[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of HurlerScheie syndrome ?

[Assistant] What are the signs and symptoms of HurlerScheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for HurlerScheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the heart valves 90% Abnormality of the tonsils 90% Coarse facial features 90% Hepatomegaly 90% Hernia 90% Limitation of joint mobility 90% Opacification of the corneal stroma 90% Short stature 90% Sinusitis 90% Skeletal dysplasia 90% Splenomegaly 90% Abnormal pyramidal signs 50% Decreased nerve conduction velocity 50% Sensorineural hearing impairment 50% Spinal canal stenosis 50% Hypertrichosis 7.5% Hypertrophic cardiomyopathy 7.5% Aortic regurgitation - Autosomal recessive inheritance - Corneal opacity - Depressed nasal bridge - Dysostosis multiplex - Hirsutism - Joint stiffness - Kyphosis - Mitral regurgitation - Obstructive sleep apnea - Pulmonary hypertension - Recurrent respiratory infections - Scoliosis - Thick vermilion border - Tracheal stenosis - Umbilical hernia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Squamous cell carcinoma of the head and neck ?

[Assistant] Cancers that are known collectively as head and neck cancers usually begin in the squamous cells that line the moist, mucosal surfaces inside the head and neck (for example, inside the mouth, the nose, and the throat). These squamous cell cancers are often referred to as squamous cell carcinomas of the head and neck. At least 75 % of head and neck cancers are caused by tobacco and alcohol use. Infection with cancer-causing types of human papillomavirus (HPV), especially HPV-16, is a risk factor for some types of head and neck cancers. The symptoms of head and neck cancers may include a lump or a sore that does not heal, a sore throat that does not go away, difficulty in swallowing, and a change or hoarseness in the voice. Treatment for head and neck cancer can include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of treatments.


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[User] What causes Frontal fibrosing alopecia ?

[Assistant] What causes frontal fibrosing alopecia? The exact underlying cause of frontal fibrosing alopecia (FFA) is unknown. FFA is thought to be an autoimmune condition in which an affected person's immune system mistakenly attacks the hair follicles (structures in the skin that make hair). Scientists also suspect that there may be a hormonal component since the condition most commonly affects post-menopausal women over age 50.


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[User] What is (are) adiposis dolorosa ?

[Assistant] Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50.  In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe. In some people, the pain comes and goes, while in others it is continuous. Movement or pressure on adipose tissue or lipomas can make the pain worse.  Other signs and symptoms that have been reported to occur with adiposis dolorosa include general weakness and tiredness (fatigue), depression, irritability, confusion, recurrent seizures (epilepsy), and a progressive decline in intellectual function (dementia). These problems do not occur in everyone with adiposis dolorosa, and it is unclear whether they are directly related to the condition.


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[User] Is prothrombin deficiency inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] Is McCune Albright syndrome inherited ?

[Assistant] Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. This mutation is not passed on to any of the affected individual's children.


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[User] What are the symptoms of Costocoracoid ligament congenitally short ?

[Assistant] What are the signs and symptoms of Costocoracoid ligament congenitally short? The Human Phenotype Ontology provides the following list of signs and symptoms for Costocoracoid ligament congenitally short. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the shoulder 90% Narrow chest 90% Sprengel anomaly 90% Abnormality of the scapula - Abnormality of the shoulder girdle musculature - Autosomal dominant inheritance - Down-sloping shoulders - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is 7q11.23 duplication syndrome inherited ?

[Assistant] 7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family. Less commonly, an affected person inherits the chromosome with a duplicated segment from a parent.


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[User] what research (or clinical trials) is being done for Lambert-Eaton Myasthenic Syndrome ?

[Assistant] The NINDS supports research on neuromuscular disorders such as LEMS with the ultimate goal of finding ways to treat, prevent, and cure them.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Lissencephaly X-linked ?

[Assistant] What are the signs and symptoms of Lissencephaly X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Lissencephaly X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for congenital afibrinogenemia ?

[Assistant] These resources address the diagnosis or management of congenital afibrinogenemia:  - Genetic Testing Registry: Hereditary factor I deficiency disease   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


[System] The assistant is a factual and informative medical chatbot.

[User] Is desmosterolosis inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Accessory deep peroneal nerve ?

[Assistant] What are the signs and symptoms of Accessory deep peroneal nerve? The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory deep peroneal nerve. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nervous system - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the treatments for Hennekam syndrome ?

[Assistant] These resources address the diagnosis or management of Hennekam syndrome:  - Great Ormond Street Hospital for Children (UK): Primary Intestinal Lymphangiectasia Information  - Johns Hopkins Medicine: Lymphedema Management  - VascularWeb: Lymphedema   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


[System] The assistant is a factual and informative medical chatbot.

[User] How many people are affected by inclusion body myopathy 2 ?

[Assistant] More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. Inclusion body myopathy 2 has also been found in several other ethnic groups worldwide.


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[User] What is the outlook for Ataxia ?

[Assistant] The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the treatments for eosinophil peroxidase deficiency ?

[Assistant] These resources address the diagnosis or management of eosinophil peroxidase deficiency:  - Genetic Testing Registry: Eosinophil peroxidase deficiency  - Tulane University Eosinophilic Disorder Center   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Kidney Disease ?

[Assistant] Kidney disease -- also known as chronic kidney disease (CKD) -- occurs when kidneys can no longer remove wastes and extra water from the blood or perform other functions as they should. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. Many more are at risk. (Watch the video to learn more about kidney disease. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)


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[User] What are the genetic changes related to congenital hepatic fibrosis ?

[Assistant] Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown.  Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. During development before birth, the ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, resulting in the persistence of immature bile ducts. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts.  The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis.


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[User] What are the symptoms of Anemia in Chronic Kidney Disease ?

[Assistant]
The signs and symptoms of anemia in someone with CKD may include

- weakness  - fatigue, or feeling tired  - headaches  - problems with concentration  - paleness  - dizziness  - difficulty breathing or shortness of breath  - chest pain

Anyone having difficulty breathing or with shortness of breath should seek immediate medical care. Anyone who has chest pain should call 911.


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[User] What to do for Vesicoureteral Reflux ?

[Assistant] Eating, diet, and nutrition have not been shown to play a role in causing or preventing VUR.


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Wilson disease ?

[Assistant] Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body.


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[User] Is spastic paraplegia type 11 inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


[System] The assistant is a factual and informative medical chatbot.

[User] Is nonsyndromic hearing loss inherited ?

[Assistant] As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but does not have hearing loss.  Another 20 to 25 percent of nonsyndromic hearing loss has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Most people with autosomal dominant hearing loss inherit an altered copy of the gene from a parent who also has hearing loss.  Between 1 and 2 percent of cases have an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. Males with X-linked nonsyndromic hearing loss tend to develop more severe hearing loss earlier in life than females who inherit a copy of the same gene mutation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Mitochondrial forms of the condition, which result from changes to mtDNA, account for less than 1 percent of all nonsyndromic hearing loss in the United States. These cases are inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.  In some cases, hearing loss occurs in people with no history of the condition in their family. These cases are described as sporadic, and the cause of the hearing loss is often unknown. When hearing loss results from environmental factors, it is not inherited.


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[User] What are the treatments for craniofacial microsomia ?

[Assistant] These resources address the diagnosis or management of craniofacial microsomia:  - Children's Hospital and Medical Center of the University of Nebraska  - Gene Review: Gene Review: Craniofacial Microsomia Overview  - Genetic Testing Registry: Goldenhar syndrome  - Seattle Children's Hospital  - Virginia Commonwealth University   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


[System] The assistant is a factual and informative medical chatbot.

[User] Is sensorineural deafness and male infertility inherited ?

[Assistant] Sensorineural deafness and male infertility is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with sensorineural deafness and male infertility each carry one copy of the chromosome 15 deletion, but they do not show symptoms of the condition.  Males with two chromosome 15 deletions in each cell have sensorineural deafness and infertility. Females with two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom because the CATSPER2 gene deletions affect sperm function, and women do not produce sperm.


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[User] What are the genetic changes related to corticosteroid-binding globulin deficiency ?

[Assistant] Mutations in the SERPINA6 gene cause corticosteroid-binding globulin deficiency. The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG), which is primarily produced in the liver. The CBG protein attaches (binds) to a hormone called cortisol. This hormone has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. When cortisol is bound to CBG, the hormone is turned off (inactive). Normally, around 80 to 90 percent of the body's cortisol is bound to CBG. When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it, causing cortisol to become active. In this manner, CBG regulates the amount of cortisol that is available for use in the body. The amount of total cortisol in the body consists of both bound (inactive) and unbound (active) cortisol.  SERPINA6 gene mutations often decrease the CBG protein's ability to bind to cortisol; some severe mutations prevent the production of any CBG protein. With less functional CBG to bind cortisol, people with corticosteroid-binding globulin deficiency usually have increased unbound cortisol levels. Typically, the body decreases cortisol production to compensate, resulting in a reduction in total cortisol.  It is unclear how a decrease in CBG protein and total cortisol leads to the signs and symptoms of corticosteroid-binding globulin deficiency. Since the CBG protein is needed to transport cortisol to specific tissues at certain times, it may be that while cortisol is available in the body, the cortisol is not getting to the tissues that require it. A decrease in cortisol may influence widening or narrowing of the blood vessels, contributing to abnormal blood pressure. Some researchers think the features of the disorder may influence each other and that fatigue could be a result of chronic pain rather than a symptom of the disorder itself. There may also be other genetic or environmental factors that influence whether an affected individual is more likely to develop pain or fatigue.


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[User] How many people are affected by isovaleric acidemia ?

[Assistant] Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in the United States.


[System] The assistant is a factual and informative medical chatbot.

[User] Is benign chronic pemphigus inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia ?

[Assistant] What are the signs and symptoms of Immunodeficiency without anhidrotic ectodermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency without anhidrotic ectodermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) IgA deficiency - IgG deficiency - Immunodeficiency - Impaired memory B-cell generation - Increased IgM level - Recurrent mycobacterium avium complex infections - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Asbestos-Related Lung Diseases ?

[Assistant]
The signs and symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. Signs and symptoms may not appear for 10 to 40 or more years after exposure to asbestos.

If you have pleural plaque, you may not have any signs or symptoms. Pleural effusion may cause pain on one side of the chest. Both conditions often are found with a chest x ray. These conditions may occur earlier than other asbestos-related lung diseases.

The main symptom of asbestosis is shortness of breath with physical exertion. You also may have a dry cough and feel tired. If your doctor listens to your lungs with a stethoscope, he or she may hear a crackling sound when you breathe in.

The symptoms of lung cancer may include a worsening cough or a cough that won't go away, trouble breathing, ongoing chest pain, and coughing up blood. Other symptoms of lung cancer include frequent lung infections, fatigue (tiredness), and weight loss without a known cause.

Symptoms of mesothelioma include shortness of breath and chest pain due to pleural effusion.


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[User] What are the symptoms of Birdshot chorioretinopathy ?

[Assistant] What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chorioretinal abnormality - Posterior uveitis - Retinal pigment epithelial atrophy - Visual impairment - Vitritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What causes Ornithine transcarbamylase deficiency ?

[Assistant] What causes ornithine transcarbamylase (OTC) deficiency? Ornithine transcarbamylase (OTC) deficiency is caused by mutations in the OTC gene. OTC deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In OTC deficiency, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so OTC deficiency causes neurological problems as well as eventual damage to the liver.


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[User] What is (are) Glomerular Diseases ?

[Assistant]
The two kidneys are bean-shaped organs located just below the rib cage, one on each side of the spine. Everyday, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid.

Blood enters the kidneys through arteries that branch inside the kidneys into tiny clusters of looping blood vessels. Each cluster is called a glomerulus, which comes from the Greek word meaning filter. The plural form of the word is glomeruli. There are approximately 1 million glomeruli, or filters, in each kidney. The glomerulus is attached to the opening of a small fluid-collecting tube called a tubule. Blood is filtered in the glomerulus, and extra fluid and wastes pass into the tubule and become urine. Eventually, the urine drains from the kidneys into the bladder through larger tubes called ureters.

Each glomerulus-and-tubule unit is called a nephron. Each kidney is composed of about 1 million nephrons. In healthy nephrons, the glomerular membrane that separates the blood vessel from the tubule allows waste products and extra water to pass into the tubule while keeping blood cells and protein in the bloodstream.


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[User] What is (are) pantothenate kinase-associated neurodegeneration ?

[Assistant] Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.  Pantothenate kinase-associated neurodegeneration is characterized by an abnormal buildup of iron in certain areas of the brain. A particular change called the eye-of-the-tiger sign, which indicates an accumulation of iron, is typically seen on magnetic resonance imaging (MRI) scans of the brain in people with this disorder.  Researchers have described classic and atypical forms of pantothenate kinase-associated neurodegeneration. The classic form usually appears in early childhood, causing severe problems with movement that worsen rapidly. Features of the atypical form appear later in childhood or adolescence and progress more slowly. Signs and symptoms vary, but the atypical form is more likely than the classic form to involve speech defects and psychiatric problems.  A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration), which was historically described as a separate syndrome, is now considered part of pantothenate kinase-associated neurodegeneration. Although HARP is much rarer than classic pantothenate kinase-associated neurodegeneration, both conditions involve problems with movement, dementia, and vision abnormalities.


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[User] What are the treatments for Limb-girdle muscular dystrophy ?

[Assistant] How might limb-girdle muscular dystrophy be treated? Unfortunately, no definitive treatments or effective medications for the limb-girdle muscular dystrophies (LGMDs) currently exist. Management depends on each individual and the specific type of LGMD that the individual has. However, a general approach to managing LGMD has been proposed, based on the typical progression and complications of affected individuals. This approach may include: weight control to avoid obesity; physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the muscles); use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility; monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis; monitoring respiratory function and use of respiratory aids when needed; monitoring for evidence of cardiomyopathy in the types of LGMD with known occurrence of cardiac involvement; and social and emotional support and stimulation to maximize a sense of social involvement and productivity, and to reduce the sense of social isolation common in these disorders.


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[User] What is (are) Aceruloplasminemia ?

[Assistant] Aceruloplasminemia is a disorder of iron metabolism. This disorder causes iron to build-up in the body. Signs and symptoms begin in adulthood. People with this disorder tend to develop anemia and diabetes in their 20's. As the condition progresses, movement problems are common, such as tremors, chorea, ataxia, eyelid twitching, and grimacing. Some experience psychiatric problems and dementia in their 40's and 50's. Eye examination may reveal changes in the retina, but these changes typically do not affect vision. Aceruloplasminemia is caused by mutations in the CP gene and are inherited in an autosomal recessive fashion.


[System] The assistant is a factual and informative medical chatbot.

[User] Who is at risk for Osteoporosis? ?

[Assistant] Some risk factors for osteoporosis cannot be changed. These include - Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis.  - Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis.  - Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so.  - Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too.  - History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another. Gender. Women are at higher risk for osteoporosis than men. They have smaller bones and lose bone more rapidly than men do because of hormone changes that occur after menopause. Therefore, if you are a woman, you are at higher risk for osteoporosis. Age. Because bones become thinner with age, the older you are, the greater your risk of osteoporosis. Ethnicity. Caucasian and Asian women are at the highest risk for osteoporosis. This is mainly due to differences in bone mass and density compared with other ethnic groups. African-American and Hispanic women are also at risk, but less so. Family History. Osteoporosis tends to run in families. If a family member has osteoporosis or breaks a bone, there is a greater chance that you will too. History of Previous Fracture. People who have had a fracture after the age of 50 are at high risk of having another.


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[User] Is hereditary sensory and autonomic neuropathy type IE inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Rickets ?

[Assistant] Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.


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[User] What is (are) Heart Failure ?

[Assistant] In heart failure, the heart cannot pump enough blood through the body. Heart failure develops over time as the pumping action of the heart gets weaker. Heart failure does not mean that the heart has stopped working or is about to stop working. When the heart is weakened by heart failure, blood and fluid can back up into the lungs and fluid builds up in the feet, ankles, and legs. People with heart failure often experience tiredness and shortness of breath.


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[User] What are the treatments for complement factor I deficiency ?

[Assistant] These resources address the diagnosis or management of complement factor I deficiency:  - MedlinePlus Encyclopedia: Complement   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Progeroid syndrome Petty type ?

[Assistant] What are the signs and symptoms of Progeroid syndrome Petty type? The Human Phenotype Ontology provides the following list of signs and symptoms for Progeroid syndrome Petty type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal dermatoglyphics 90% Abnormality of hair texture 90% Abnormality of the eyelashes 90% Abnormality of the fontanelles or cranial sutures 90% Anonychia 90% Broad forehead 90% Cutis laxa 90% Decreased skull ossification 90% Epicanthus 90% Hypertrichosis 90% Intrauterine growth retardation 90% Lipoatrophy 90% Low-set, posteriorly rotated ears 90% Mandibular prognathia 90% Prematurely aged appearance 90% Reduced number of teeth 90% Sacrococcygeal pilonidal abnormality 90% Shagreen patch 90% Short distal phalanx of finger 90% Short stature 90% Strabismus 90% Thick eyebrow 90% Umbilical hernia 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Progressive familial intrahepatic cholestasis type 2 ?

[Assistant] What are the signs and symptoms of Progressive familial intrahepatic cholestasis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial intrahepatic cholestasis type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cirrhosis - Conjugated hyperbilirubinemia - Death in childhood - Diarrhea - Elevated alkaline phosphatase - Failure to thrive - Fat malabsorption - Hepatocellular carcinoma - Hepatomegaly - Infantile onset - Intermittent jaundice - Intrahepatic cholestasis - Pruritus - Short stature - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Bile Duct Cancer (Cholangiocarcinoma) ?

[Assistant]
Key Points
                    - Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts.     - Having colitis or certain liver diseases can increase the risk of bile duct cancer.    - Signs of bile duct cancer include jaundice and pain in the abdomen.    - Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer.    - Different procedures may be used to obtain a sample of tissue and diagnose bile duct cancer.     - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Bile duct cancer is a rare disease in which malignant (cancer) cells form in the bile ducts.
                    A network of tubes, called ducts, connects the liver, gallbladder, and small intestine. This network begins in the liver where many small ducts collect bile (a fluid made by the liver to break down fats during digestion). The small ducts come together to form the right and left hepatic ducts, which lead out of the liver. The two ducts join outside the liver and form the common hepatic duct. The cystic duct connects the gallbladder to the common hepatic duct. Bile from the liver passes through the hepatic ducts, common hepatic duct, and cystic duct and is stored in the gallbladder.    When food is being digested, bile stored in the gallbladder is released and passes through the cystic duct to the common bile duct and into the small intestine.    Bile duct cancer is also called cholangiocarcinoma.   There are two types of bile duct cancer:         -   Intrahepatic bile duct cancer : This type of cancer forms in the bile ducts inside the liver. Only a small number of bile duct cancers are intrahepatic. Intrahepatic bile duct cancers are also called intrahepatic cholangiocarcinomas.    -   Extrahepatic bile duct cancer : The extrahepatic bile duct is made up of the hilum region and the distal region. Cancer can form in either region:                - Perihilar bile duct cancer: This type of cancer is found in the hilum region, the area where the right and left bile ducts exit the liver and join to form the common hepatic duct. Perihilar bile duct cancer is also called a Klatskin tumor or perihilar cholangiocarcinoma.      - Distal extrahepatic bile duct cancer: This type of cancer is found in the distal region. The distal region is made up of the common bile duct which passes through the pancreas and ends in the small intestine. Distal extrahepatic bile duct cancer is also called extrahepatic cholangiocarcinoma.


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[User] What are the symptoms of Noonan syndrome 6 ?

[Assistant] What are the signs and symptoms of Noonan syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asymmetry of the thorax 100% Cryptorchidism 100% Curly hair 100% Generalized hypotonia 100% Hyperkeratosis 100% Hypertelorism 100% Low-set ears 100% Short stature 100% Webbed neck 100% Hypertrophic cardiomyopathy 3 of 4 Macrocephaly 3 of 4 Pulmonic stenosis 3 of 4 Intellectual disability, mild 2 of 4 Myopia 2 of 4 Delayed speech and language development 1 of 4 The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What causes 15q11.2 microdeletion ?

[Assistant] What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.


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[User] Is microvillus inclusion disease inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What are the symptoms of Tietz syndrome ?

[Assistant] What are the signs and symptoms of Tietz syndrome? The signs and symptoms of Tietz syndrome are usually present at birth and may include: Severe, bilateral (both ears) sensorineural hearing loss Fair skin Light-colored hair Blue eyes The Human Phenotype Ontology provides the following list of signs and symptoms for Tietz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the anterior chamber 90% Aplasia/Hypoplasia of the eyebrow 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Autosomal dominant inheritance - Bilateral sensorineural hearing impairment - Blue irides - Congenital sensorineural hearing impairment - Hypopigmentation of the fundus - White eyebrow - White eyelashes - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for CAV3-related distal myopathy ?

[Assistant] These resources address the diagnosis or management of CAV3-related distal myopathy:  - Gene Review: Gene Review: Caveolinopathies  - Genetic Testing Registry: CAV3-Related Distal Myopathy  - Genetic Testing Registry: Distal myopathy, Tateyama type  - MedlinePlus Encyclopedia: Electromyography  - MedlinePlus Encyclopedia: Muscle Biopsy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) peroxisomal acyl-CoA oxidase deficiency ?

[Assistant] Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals.  Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood.


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[User] How many people are affected by episodic ataxia ?

[Assistant] Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition.


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[User] What is (are) Primary Hyperparathyroidism ?

[Assistant]
High PTH levels trigger the bones to release increased amounts of calcium into the blood, causing blood calcium levels to rise above normal. The loss of calcium from bones may weaken the bones. Also, the small intestine may absorb more calcium from food, adding to the excess calcium in the blood. In response to high blood calcium levels, the kidneys excrete more calcium in the urine, which can lead to kidney stones.

High blood calcium levels might contribute to other problems, such as heart disease, high blood pressure, and difficulty with concentration. However, more research is needed to better understand how primary hyperparathyroidism affects the cardiovascular systemthe heart and blood vesselsand the central nervous systemthe brain and spinal cord.


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[User] What are the symptoms of Pseudohypoparathyroidism type 2 ?

[Assistant] What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated circulating parathyroid hormone (PTH) level - Hyperphosphatemia - Hypocalcemia - Pseudohypoparathyroidism - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Who is at risk for Breast Cancer? ?

[Assistant] Risk factors are conditions or agents that increase a person's chances of getting a disease. Here are the most common risk factors for breast cancer. - Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter.  - Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating.  - Never being pregnant or having your first child in your mid-30s or later.  - Early menstruation. Having your first menstrual period before age 12.  -  Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density.   -  Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer.   - Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast.  - Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy.   - Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises.  - Gaining weight after menopause, especially after natural menopause and/or after age 60.  - Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease.  - Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma.    Five percent to 10 percent of all breast cancers are thought to be inherited.    Personal and family history. A personal history of breast cancer or breast cancer among one or more of your close relatives, such as a sister, mother, or daughter. Estrogen levels in the body. High estrogen levels over a long time may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. Never being pregnant or having your first child in your mid-30s or later. Early menstruation. Having your first menstrual period before age 12. Breast density. Women with very dense breasts have a higher risk of breast cancer than women with low or normal breast density. Combination hormone replacement therapy/Hormone therapy. Estrogen, progestin, or both may be given to replace the estrogen no longer made by the ovaries in postmenopausal women or women who have had their ovaries removed. This is called hormone replacement therapy. (HRT) or hormone therapy (HT). Combination HRT/HT is estrogen combined with progestin. This type of HRT/HT can increase the risk of breast cancer. Exposure to radiation. Radiation therapy to the chest for the treatment of cancer can increase the risk of breast cancer, starting 10 years after treatment. Radiation therapy to treat cancer in one breast does not appear to increase the risk of cancer in the other breast. Obesity. Obesity increases the risk of breast cancer, especially in postmenopausal women who have not used hormone replacement therapy. Alcohol. Drinking alcohol increases the risk of breast cancer. The level of risk rises as the amount of alcohol consumed rises. Gaining weight after menopause, especially after natural menopause and/or after age 60. Race. White women are at greater risk than black women. However, black women diagnosed with breast cancer are more likely to die of the disease. Inherited gene changes. Women who have inherited certain changes in the genes named BRCA1 and BRCA2 have a higher risk of breast cancer, ovarian cancer and maybe colon cancer. The risk of breast cancer caused by inherited gene changes depends on the type of gene mutation, family history of cancer, and other factors. Men who have inherited certain changes in the BRCA2 gene have a higher risk of breast, prostate and pancreatic cancers, and lymphoma.    Five percent to 10 percent of all breast cancers are thought to be inherited.   Get information about the BRCA1 and BRCA2 genetic mutations and testing for them. This chart shows what the approximate chances are of a woman getting invasive breast cancer in her lifetime.


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[User] Who is at risk for Coronary Heart Disease? ?

[Assistant]
In the United States, coronary heart disease (CHD) is a leading cause of death for both men and women. Each year, about 370,000 Americans die from coronary heart disease.

Certain traits, conditions, or habits may raise your risk for CHD. The more risk factors you have, the more likely you are to develop the disease.

You can control many risk factors, which may help prevent or delay CHD.

Major Risk Factors

Unhealthy blood cholesterol levels. This includes high LDL cholesterol (sometimes called bad cholesterol) and low HDL cholesterol (sometimes called good cholesterol).

High blood pressure. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.)

Smoking. Smoking can damage and tighten blood vessels, lead to unhealthy cholesterol levels, and raise blood pressure. Smoking also can limit how much oxygen reaches the body's tissues.

Insulin resistance. This condition occurs if the body can't use its own insulin properly. Insulin is a hormone that helps move blood sugar into cells where it's used for energy. Insulin resistance may lead to diabetes.

Diabetes. With this disease, the body's blood sugar level is too high because the body doesn't make enough insulin or doesn't use its insulin properly.

Overweight or obesity. The terms overweight and obesity refer to body weight thats greater than what is considered healthy for a certain height.

Metabolic syndrome. Metabolic syndrome is the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke.

Lack of physical activity. Being physically inactive can worsen other risk factors for CHD, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight or obesity.

Unhealthy diet. An unhealthy diet can raise your risk for CHD. Foods that are high in saturated and trans fats, cholesterol, sodium, and sugar can worsen other risk factors for CHD.

Older age. Genetic or lifestyle factors cause plaque to build up in your arteries as you age. In men, the risk for coronary heart disease increases starting at age 45. In women, the risk for coronary heart disease increases starting at age 55.

A family history of early coronary heart disease is a risk factor for developing coronary heart disease, specifically if a father or brother is diagnosed before age 55, or a mother or sister is diagnosed before age 65.

Although older age and a family history of early heart disease are risk factors, it doesn't mean that youll develop CHD if you have one or both. Controlling other risk factors often can lessen genetic influences and help prevent CHD, even in older adults.

Emerging Risk Factors

Researchers continue to study other possible risk factors for CHD.

High levels of a protein called C-reactive protein (CRP) in the blood may raise the risk of CHD and heart attack. High levels of CRP are a sign of inflammation in the body.

Inflammation is the body's response to injury or infection. Damage to the arteries' inner walls may trigger inflammation and help plaque grow.

Research is under way to find out whether reducing inflammation and lowering CRP levels also can reduce the risk of CHD and heart attack.

High levels of triglycerides in the blood also may raise the risk of CHD, especially in women. Triglycerides are a type of fat.

Other Risks Related to Coronary Heart Disease

Other conditions and factors also may contribute to CHD, including:

Sleep apnea. Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Untreated sleep apnea can increase your risk for high blood pressure, diabetes, and even a heart attack or stroke.

Stress. Research shows that the most commonly reported "trigger" for a heart attack is an emotionally upsetting event, especially one involving anger.

Alcohol. Heavy drinking can damage the heart muscle and worsen other CHD risk factors. Men should have no more than two drinks containing alcohol a day. Women should have no more than one drink containing alcohol a day.

Preeclampsia. This condition can occur during pregnancy. The two main signs of preeclampsia are a rise in blood pressure and excess protein in the urine. Preeclampsia is linked to an increased lifetime risk of heart disease, including CHD, heart attack, heart failure, and high blood pressure.

For more detailed information, go to the Health Topics Coronary Heart Disease Risk Factors article.


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[User] What is (are) Factor V deficiency ?

[Assistant] Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations.


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[User] What are the treatments for citrullinemia ?

[Assistant] These resources address the diagnosis or management of citrullinemia:  - Baby's First Test: Citrullinemia, Type I  - Baby's First Test: Citrullinemia, Type II  - Gene Review: Gene Review: Citrin Deficiency  - Gene Review: Gene Review: Citrullinemia Type I  - Gene Review: Gene Review: Urea Cycle Disorders Overview  - Genetic Testing Registry: Citrullinemia type I  - Genetic Testing Registry: Citrullinemia type II  - Genetic Testing Registry: Neonatal intrahepatic cholestasis caused by citrin deficiency  - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the treatments for Congenital sucrase-isomaltase deficiency ?

[Assistant] How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. Sucraid is an oral medication containing the enzyme that does not work properly in people with this condition. By taking this medication, those with CSID can eat sucrose-containing foods because this enzyme will break down sucrose. This medication must be taken with each meal or snack.


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[User] What causes Human T-cell leukemia virus type 1 ?

[Assistant] What causes human T-cell leukemia virus, type 1? Human T-cell leukemia virus, type 1 (HTLV-1) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-1 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. It is unclear why some people with HTLV-1 develop adult T-cell leukemia (ATL), HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) or other medical conditions, while others remain asymptomatic (show no signs or symptoms) their entire lives.


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[User] What are the genetic changes related to adiposis dolorosa ?

[Assistant] The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified.  Several other possible causes of adiposis dolorosa have been suggested, although none have been confirmed. They include the use of medications called corticosteroids, dysfunction of the endocrine system (which produces hormones), or changes in the deposition and breakdown of fat (adipose tissue metabolism). Researchers have also suggested that adiposis dolorosa could be an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. However, there is no firm evidence that the condition is related to abnormal inflammation or other immune system malfunction.  It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.


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[User] What is (are) Parkinson's Disease ?

[Assistant] Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It currently affects about half a million people in the United States, although the numbers may be much higher. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, meaning its symptoms grow worse over time. It is not contagious.


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[User] What is (are) Spine Injuries and Disorders ?

[Assistant] Your backbone, or spine, is made up of 26 bone discs called vertebrae. The vertebrae protect your spinal cord and allow you to stand and bend. A number of problems can change the structure of the spine or damage the vertebrae and surrounding tissue. They include       - Infections    - Injuries    - Tumors    - Conditions, such as ankylosing spondylitis and scoliosis    - Bone changes that come with age, such as spinal stenosis and herniated disks       Spinal diseases often cause pain when bone changes put pressure on the spinal cord or nerves. They can also limit movement. Treatments differ by disease, but sometimes they include back braces and surgery.


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[User] What is (are) Glaucoma ?

[Assistant] Glaucoma is a group of diseases that can damage the eye's optic nerve and result in vision loss and blindness. While glaucoma can strike anyone, the risk is much greater for people over 60. How Glaucoma Develops  There are several different types of glaucoma. Most of these involve the drainage system within the eye. At the front of the eye there is a small space called the anterior chamber. A clear fluid flows through this chamber and bathes and nourishes the nearby tissues. (Watch the video to learn more about glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) In glaucoma, for still unknown reasons, the fluid drains too slowly out of the eye. As the fluid builds up, the pressure inside the eye rises. Unless this pressure is controlled, it may cause damage to the optic nerve and other parts of the eye and result in loss of vision. Open-angle Glaucoma The most common type of glaucoma is called open-angle glaucoma. In the normal eye, the clear fluid leaves the anterior chamber at the open angle where the cornea and iris meet. When fluid reaches the angle, it flows through a spongy meshwork, like a drain, and leaves the eye. Sometimes, when the fluid reaches the angle, it passes too slowly through the meshwork drain, causing the pressure inside the eye to build. If the pressure damages the optic nerve, open-angle glaucoma -- and vision loss -- may result. There is no cure for glaucoma. Vision lost from the disease cannot be restored. However, there are treatments that may save remaining vision. That is why early diagnosis is important.  See this graphic for a quick overview of glaucoma,  including how many people it affects, whos at risk, what to do if you have it, and how to learn more.  See a glossary of glaucoma terms.


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[User] What is (are) Dandy-Walker Syndrome ?

[Assistant] Dandy-Walker Syndrome is a congenital brain malformation involving the cerebellum (an area of the back of the brain that coordinates movement) and the fluid-filled spaces around it. The key features of this syndrome are an enlargement of the fourth ventricle (a small channel that allows fluid to flow freely between the upper and lower areas of the brain and spinal cord), a partial or complete absence of the area of the brain between the two cerebellar hemispheres (cerebellar vermis), and cyst formation near the lowest part of the skull. An increase in the size and pressure of the fluid spaces surrounding the brain (hydrocephalus) may also be present. The syndrome can appear dramatically or develop unnoticed. Symptoms, which often occur in early infancy, include slow motor development and progressive enlargement of the skull. In older children, symptoms of increased intracranial pressure (pressure within the skull) such as irritability and vomiting, and signs of cerebellar dysfunction such as unsteadiness, lack of muscle coordination, or jerky movements of the eyes may occur. Other symptoms include increased head circumference, bulging at the back of the skull, abnormal breathing problems, and problems with the nerves that control the eyes, face and neck. Dandy-Walker Syndrome is sometimes associated with disorders of other areas of the central nervous system, including absence of the area made up of nerve fibers connecting the two cerebral hemispheres (corpus callosum) and malformations of the heart, face, limbs, fingers and toes.


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[User] what research (or clinical trials) is being done for Pituitary Tumors ?

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to brain tumors, including pituitary tumors, in their laboratories at the NIH and also support research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure pituitary tumors.


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[User] What are the symptoms of Andersen-Tawil syndrome ?

[Assistant] What are the signs and symptoms of Andersen-Tawil syndrome? Anderson-Tawil syndrome causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome is a heart condition that causes the heart muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting, or cardiac arrest. Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis). The Human Phenotype Ontology provides the following list of signs and symptoms for Andersen-Tawil syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Specific learning disability 7.5% Antegonial notching of mandible - Autosomal dominant inheritance - Bidirectional ventricular ectopy - Blepharophimosis - Brachydactyly syndrome - Broad forehead - Bulbous nose - Cleft palate - Clinodactyly of the 5th finger - Clinodactyly of the 5th toe - Delayed eruption of permanent teeth - Delayed skeletal maturation - Facial asymmetry - Growth abnormality - High palate - Hypertelorism - Hypoplasia of dental enamel - Hypoplasia of the maxilla - Joint laxity - Low-set ears - Malar flattening - Microcephaly - Oligodontia - Palpitations - Periodic hypokalemic paresis - Persistence of primary teeth - Preauricular pit - Prolonged QT interval - Prominent frontal sinuses - Scapular winging - Scoliosis - Short foot - Short mandibular rami - Short metacarpal - Short metatarsal - Short palm - Short palpebral fissure - Short phalanx of finger - Slender long bone - Small hand - Syncope - Toe syndactyly - Triangular face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] what research (or clinical trials) is being done for Uterine Sarcoma ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.

                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.


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[User] How to diagnose Poland syndrome ?

[Assistant] When is Poland syndrome typically first diagnosed? The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious.


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[User] What are the treatments for Alzheimer's Disease ?

[Assistant] Medications Can Treat Symptoms There is no known cure for Alzheimer's disease, but there are medicines that can treat symptoms of the disease. Most Alzheimers medicines work best for people in the mild or moderate stages of the disease. For example, they can keep memory loss from getting worse for a time. Other medicines may help behavioral symptoms, such as trouble sleeping or feeling worried or depressed. All of these medicines may have side effects and may not work for everyone. A person with Alzheimer's should be under a doctor's care. He or she may see a primary care doctor or a specialist, such as a neurologist, geriatric psychiatrist, or geriatrician. The doctor can treat the person's physical and behavioral problems, answer questions, and refer the patient and caregiver to other sources of help. Medications for Alzheimers Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild to moderate Alzheimers, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimers, although it also has limited effects. All of these medicines have possible side effects, including nausea, vomiting, diarrhea, and loss of appetite. You should report any unusual symptoms to a doctor right away. It is important to follow a doctor's instructions when taking any medication. Scientists are testing many new drugs and other treatments to see if they can help slow, delay, or prevent Alzheimers disease. Learn how Alzheimers medications work, how to take them, and where to find more information.  Managing Behavioral Symptoms Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. Treating these symptoms often makes people with Alzheimers disease more comfortable and makes their care easier for caregivers. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution. Memory Aids Memory aids may help some people who have mild Alzheimers disease with day-to-day living. A calendar, list of daily plans, notes about simple safety measures, and written directions describing how to use common household items can be useful. Help for Caregivers Caring for a person with Alzheimers can have high physical, emotional, and financial costs. The demands of day-to-day care, changing family roles, and difficult decisions about placement in a care facility can be difficult. Sometimes, taking care of the person with Alzheimers makes caregivers feel good because they are providing love and comfort. At other times, it can be overwhelming. Changes in the person can be hard to understand and cope with. Here are some ways for caregivers of people with Alzheimers to get help. - Ask family and friends to help out in specific ways, like making a meal or visiting the person while they take a break.  - Join a caregivers support group.  - Use home health care, adult day care, and respite services. Ask family and friends to help out in specific ways, like making a meal or visiting the person while they take a break. Join a caregivers support group. Use home health care, adult day care, and respite services. For more information about caring for someone with Alzheimers disease, see  Alzheimer's Caregiving.


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[User] What causes Primary melanoma of the central nervous system ?

[Assistant] What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.


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[User] What are the treatments for pseudohypoaldosteronism type 2 ?

[Assistant] These resources address the diagnosis or management of pseudohypoaldosteronism type 2:  - Gene Review: Gene Review: Pseudohypoaldosteronism Type II  - Genetic Testing Registry: Pseudohypoaldosteronism, type 2   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of Graves' disease ?

[Assistant] What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Abnormality of the abdomen - Congestive heart failure - Goiter - Graves disease - Hyperactivity - Hyperhidrosis - Hyperreflexia - Irritability - Muscle weakness - Onycholysis - Polyphagia - Pretibial myxedema - Proptosis - Weight loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How many people are affected by rapid-onset dystonia parkinsonism ?

[Assistant] Rapid-onset dystonia parkinsonism appears to be a rare disorder, although its prevalence is unknown. It has been diagnosed in individuals and families from the United States, Europe, and Korea.


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[User] What is (are) Cytomegalovirus Infections ?

[Assistant] Cytomegalovirus (CMV) is a virus found around the world. It is related to the viruses that cause chickenpox and infectious mononucleosis (mono). Between 50 percent and 80 percent of adults in the United States have had a CMV infection by age 40. Once CMV is in a person's body, it stays there for life.     CMV is spread through close contact with body fluids. Most people with CMV don't get sick and don't know that they've been infected. But infection with the virus can be serious in babies and people with weak immune systems. If a woman gets CMV when she is pregnant, she can pass it on to her baby. Usually the babies do not have health problems. But some babies can develop lifelong disabilities.    A blood test can tell whether a person has ever been infected with CMV. Most people with CMV don't need treatment. If you have a weakened immune system, your doctor may prescribe antiviral medicine. Good hygiene, including proper hand washing, may help prevent infections.    Centers for Disease Control and Prevention


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[User] What is (are) WAGR syndrome ?

[Assistant] WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.


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[User] Do you have information about Liver Transplantation

[Assistant] Summary : Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. You cannot live without a liver that works. If your liver fails, your doctor may put you on a waiting list for a liver transplant. Doctors do liver transplants when other treatment cannot keep a damaged liver working.    During a liver transplantation, the surgeon removes the diseased liver and replaces it with a healthy one. Most transplant livers come from a donor who has died. Sometimes there is a living donor. This is when a healthy person donates part of his or her liver for a specific patient.    The most common reason for a transplant in adults is cirrhosis. This is scarring of the liver, caused by injury or long-term disease. The most common reason in children is biliary atresia, a disease of the bile ducts.    If you have a transplant, you must take drugs the rest of your life to help keep your body from rejecting the new liver.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] What is (are) Congenital Heart Defects ?

[Assistant] A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely.    Doctors use a physical exam and special heart tests to diagnose congenital heart defects. They often find severe defects during pregnancy or soon after birth. Signs and symptoms of severe defects in newborns include       - Rapid breathing    - Cyanosis - a bluish tint to the skin, lips, and fingernails    - Fatigue    - Poor blood circulation       Many congenital heart defects cause few or no signs and symptoms. They are often not diagnosed until children are older.    Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants. The treatment depends on the type of the defect, how severe it is, and a child's age, size, and general health.    NIH: National Heart, Lung, and Blood Institute


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[User] What is (are) juvenile primary osteoporosis ?

[Assistant] Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.


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[User] Is Partington syndrome inherited ?

[Assistant] Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.


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[User] What are the symptoms of Okamoto syndrome ?

[Assistant] What are the signs and symptoms of Okamoto syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Okamoto syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the hip bone 90% Anteverted nares 90% Cleft palate 90% Cognitive impairment 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscular hypotonia 90% Open mouth 90% Proptosis 90% Short nose 90% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Epicanthus 50% Long philtrum 50% Synophrys 50% Webbed neck 50% Abnormality of female internal genitalia 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pinna 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Hypoplastic left heart 7.5% Intestinal malrotation 7.5% Microcephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Tented upper lip vermilion 7.5% Urogenital fistula 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is narcolepsy inherited ?

[Assistant] Most cases of narcolepsy are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of all cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (parents, siblings, and children) of people with narcolepsy with cataplexy have a 40 times greater risk of developing the condition compared with people in the general population.