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

[User] What are the symptoms of PCDH19-related female-limited epilepsy ?

[Assistant] What are the signs and symptoms of PCDH19-related female-limited epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for PCDH19-related female-limited epilepsy. 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) Intellectual disability 30% Absence seizures - Aggressive behavior - Atonic seizures - Focal seizures - Generalized myoclonic seizures - Generalized tonic-clonic seizures - Infantile onset - Psychosis - Status epilepticus - 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] Is carbamoyl phosphate synthetase I 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] What are the treatments for glycine encephalopathy ?

[Assistant] These resources address the diagnosis or management of glycine encephalopathy:  - Baby's First Test  - Gene Review: Gene Review: Glycine Encephalopathy  - Genetic Testing Registry: Non-ketotic hyperglycinemia   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 X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia ?

[Assistant] What are the signs and symptoms of X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia. 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) Decreased number of CD4+ T cells - Decreased T cell activation - Immunodeficiency - Lymphoma - Recurrent viral infections - 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 is (are) lactate dehydrogenase deficiency ?

[Assistant] Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.  There are two types of this condition: lactate dehydrogenase-A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase-B deficiency.  People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people with lactate dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Some people with lactate dehydrogenase-A deficiency develop skin rashes. The severity of the signs and symptoms among individuals with lactate dehydrogenase-A deficiency varies greatly.  People with lactate dehydrogenase-B deficiency typically do not have any signs or symptoms of the condition. They do not have difficulty with physical activity or any specific physical features related to the condition. Affected individuals are usually discovered only when routine blood tests reveal reduced lactate dehydrogenase activity.


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

[Assistant]
Treatment generally depends on whether the thyroid is damaged enough to cause hypothyroidism. In the absence of hypothyroidism, some health care providers treat Hashimotos disease to reduce the size of the goiter. Others choose not to treat the disease and simply monitor their patients for disease progression.

Hashimotos disease, with or without hypothyroidism, is treated with synthetic thyroxine, which is man-made T4. Health care providers prefer to use synthetic T4, such as Synthroid, rather than synthetic T3, because T4 stays in the body longer, ensuring a steady supply of thyroid hormone throughout the day. The thyroid preparations made with animal thyroid are not considered as consistent as synthetic thyroid (Levothyroxine) and rarely prescribed today.

Health care providers routinely test the blood of patients taking synthetic thyroid hormone and adjust the dose as necessary, typically based on the result of the TSH test. Hypothyroidism can almost always be completely controlled with synthetic thyroxine, as long as the recommended dose is taken every day as instructed.


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[User] what research (or clinical trials) is being done for Complex Regional Pain Syndrome ?

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to CRPS and also support additional research through grants to major medical institutions across the country. NINDS-supported scientists are studying new approaches to treat CRPS and intervene more aggressively after traumatic injury to lower the chances of developing the disorder. Researchers hope to identify specific cellular and molecular changes in sensory neurons following peripheral nerve injury to better understand the processes that underlie neuroplasticity (the brains ability to reorganize or form new nerve connections and pathways following injury or death of nerve cells). Identifying these mechanisms could provide targets for new drug therapies that could improve recovery following regeneration. Other researchers hope to better understand how CRPS develops by studying immune system activation and peripheral nerve signaling using an animal model of the disorder.


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[User] Is Baraitser-Winter syndrome inherited ?

[Assistant] This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family.


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[User] What are the treatments for autoimmune polyglandular syndrome, type 1 ?

[Assistant] These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1:  - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant  - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia  - Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1  - MedlinePlus Encyclopedia: Addison's Disease  - MedlinePlus Encyclopedia: Autoimmune Disorders  - MedlinePlus Encyclopedia: Cutaneous Candidiasis  - MedlinePlus Encyclopedia: Hypoparathyroidism   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 infantile-onset ascending hereditary spastic paralysis ?

[Assistant] These resources address the diagnosis or management of infantile-onset ascending hereditary spastic paralysis:  - Gene Review: Gene Review: ALS2-Related Disorders  - Genetic Testing Registry: Infantile-onset ascending hereditary spastic paralysis   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 is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ?

[Assistant]
Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous. Benign prostatic hyperplasia is also called benign prostatic hypertrophy or benign prostatic obstruction.

The prostate goes through two main growth periods as a man ages. The first occurs early in puberty, when the prostate doubles in size. The second phase of growth begins around age 25 and continues during most of a mans life. Benign prostatic hyperplasia often occurs with the second growth phase.

As the prostate enlarges, the gland presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty completely, leaving some urine in the bladder. The narrowing of the urethra and urinary retentionthe inability to empty the bladder completelycause many of the problems associated with benign prostatic hyperplasia.


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[User] What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ?

[Assistant] Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.


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[User] What is (are) Carney complex ?

[Assistant] Carney complex is a disorder characterized by an increased risk of several types of tumors. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood.  Individuals with Carney complex are at increased risk of developing noncancerous (benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of the body. Cardiac myxomas may be found in any of the four chambers of the heart and can develop in more than one chamber. These tumors can block the flow of blood through the heart, causing serious complications or sudden death. Myxomas may also develop on the skin and in internal organs. Skin myxomas appear as small bumps on the surface of the skin or as lumps underneath the skin. In Carney complex, myxomas have a tendency to recur after they are removed.  Individuals with Carney complex also develop tumors in hormone-producing (endocrine) glands, such as the adrenal glands located on top of each kidney. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the adrenal glands to produce an excess of the hormone cortisol. High levels of cortisol (hypercortisolism) can lead to the development of Cushing syndrome. This syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.  People with Carney complex may also develop tumors of other endocrine tissues, including the thyroid, testes, and ovaries. A tumor called an adenoma may form in the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized by large hands and feet, arthritis, and "coarse" facial features.  Some people with Carney complex develop a rare tumor called psammomatous melanotic schwannoma. This tumor occurs in specialized cells called Schwann cells, which wrap around and insulate nerves. This tumor is usually benign, but in some cases it can become cancerous (malignant).  Almost all people with Carney complex have areas of unusual skin pigmentation. Brown skin spots called lentigines may appear anywhere on the body but tend to occur around the lips, eyes, or genitalia. In addition, some affected individuals have at least one blue-black mole called a blue nevus.


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[User] Is focal dermal hypoplasia inherited ?

[Assistant] Focal dermal hypoplasia is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. The X chromosome that contains the mutated PORCN gene may be turned on (active) or turned off (inactive) due to a process called X-inactivation. Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in somatic cells (cells other than egg and sperm cells). X-inactivation ensures that females, like males, have only one active copy of the X chromosome in each body cell. Usually X-inactivation occurs randomly, so that each X chromosome is active in about half the body's cells. Sometimes X-inactivation is not random, and one X chromosome is active in more than half of cells. When X-inactivation does not occur randomly, it is called skewed X-inactivation. Researchers suspect that the distribution of active and inactive X chromosomes may play a role in determining the severity of focal dermal hypoplasia in females.  In males (who have only one X chromosome), a mutation in the only copy of the PORCN gene in each cell appears to be lethal very early in development. A male can be born with focal dermal hypoplasia if he has a PORCN gene mutation in only some of his cells (known as mosaicism). Affected males typically experience milder symptoms of the disorder than females because more of their cells have a functional copy of the PORCN gene. A characteristic of focal dermal hypoplasia is that mildly affected fathers cannot pass this condition to their sons, but they can pass it to their daughters, who are usually more severely affected than they are. Women with focal dermal hypoplasia cannot pass this condition to their sons (because it is lethal early in development) but can pass it to their daughters.  Most cases of focal dermal hypoplasia in females result from new mutations in the PORCN gene and occur in people with no history of the disorder in their family. When focal dermal hypoplasia occurs in males, it always results from a new mutation in this gene that is not inherited. Only about 5 percent of females with this condition inherit a mutation in the PORCN gene from a parent.


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[User] What are the treatments for Klippel Feil Syndrome ?

[Assistant] Treatment for Klippel-Feil Syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis. Physical therapy may also be useful.


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

[User] Is Hemophagocytic lymphohistiocytosis inherited ?

[Assistant] Is hemophagocytic lymphohistiocytosis inherited? Hemophagocytic lymphohistiocytosis (HLH) may be inherited or acquired (due to non-genetic factors). Familial HLH is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change (mutation) in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. Acquired HLH is not inherited. The non-genetic causes of HLH include: infection, medications that suppress the immune system, autoimmune diseases, immunodeficiencies, certain types of cancer and/or metabolic diseases.


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[User] How to prevent Asbestos-Related Lung Diseases ?

[Assistant]
You can prevent asbestos-related lung diseases by limiting your exposure to asbestos fibers. If your job requires you to work around asbestos, make sure to follow workplace rules for handling it. For example, make sure that air levels are measured, and wear a proper respirator to avoid breathing in asbestos fibers.

If you live in a house or work in a building that has pipes or other products containing asbestos, you generally dont need to take special precautions. Being around products that contain asbestos isnt a danger, as long as the asbestos is enclosed. This prevents the fibers from getting into the air.

If you smoke, quit. Smoking greatly increases your risk of lung cancer if you have pleural plaque, pleural effusion, or asbestosis. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.

If you have trouble quitting smoking on your own, consider joining a support group. Many hospitals, workplaces, and community groups offer classes to help people quit smoking.

For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institutes Your Guide to a Healthy Heart. Although these resources focus on heart health, they include general information about how to quit smoking.


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[User] What is (are) Donnai-Barrow syndrome ?

[Assistant] Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. Affected people often have mild to moderate intellectual disability and developmental delay. Donnai Barrow syndrome is caused by changes (mutations) in the LRP2 gene and is inherited in an autosomal recessive manner. Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities.


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[User] What are the symptoms of Benign hereditary chorea ?

[Assistant] What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. 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) Gait disturbance 90% Dysarthria 7.5% Anxiety - Autosomal dominant inheritance - Chorea - Juvenile onset - Motor delay - Phenotypic variability - 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) Williams syndrome ?

[Assistant] Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual.


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[User] What causes Lemierre syndrome ?

[Assistant] What causes Lemierre syndrome? In about 90% of cases, Lemierre syndrome is caused by Fusobacterium necrophorum; however, the syndrome has also been reported with other bacteria, including Stapylococcus aureus, Bacteroides, Eikenella, Porphyromonas, Prevotella, Proteus, Peptostreptococcus and Streptococcus pyogenes.


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[User] How many people are affected by autosomal recessive hyper-IgE syndrome ?

[Assistant] AR-HIES is a rare disorder whose prevalence is unknown.


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

[User] What is (are) Metabolic Disorders ?

[Assistant] Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.    A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy.     You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.


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[User] What are the treatments for Aspergillosis ?

[Assistant] How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.


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[User] Is glutamate formiminotransferase 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] What is (are) Kawasaki Disease ?

[Assistant]
Kawasaki (KAH-wah-SAH-ke) disease is a rare childhood disease. It's a form of a condition calledvasculitis(vas-kyu-LI-tis). This condition involves inflammation of the blood vessels.

In Kawasaki disease, the walls of the blood vessels throughout the body become inflamed. The disease can affect any type of blood vessel in the body, including the arteries, veins, and capillaries.

Sometimes Kawasaki disease affects the coronary arteries, which carry oxygen-rich blood to the heart. As a result, some children who have Kawasaki disease may develop serious heart problems.

Overview

The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known.

The disease can't be passed from one child to another. Your child won't get it from close contact with a child who has the disease. Also, if your child has the disease, he or she can't pass it to another child.

Kawasaki disease affects children of all races and ages and both genders. It occurs most often in children of Asian and Pacific Island descent. The disease is more likely to affect boys than girls. Most cases occur in children younger than 5years old.

One of the main symptoms of Kawasaki disease is a fever that lasts longer than5days. The fever remains high even after treatment with standard childhood fever medicines.

Children who have the disease also may have red eyes, red lips, and redness on the palms of their hands and soles of their feet. These are all signs of inflamed blood vessels.

Early treatment helps reduce the risk of Kawasaki disease affecting the coronary arteries and causing serious problems.

Outlook

Kawasaki disease can't be prevented. However, most children who have the disease usually recover within weeks of getting symptoms. Further problems are rare.

The disease affects some children's coronary arteries, which can cause serious problems. These children need long-term care and treatment.

Researchers continue to look for the cause of Kawasaki disease and better ways to diagnose and treat it. They also hope to learn more about long-term health risks, if any, for people who have had the disease.


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[User] What is (are) Birthmarks ?

[Assistant] Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks.    No one knows what causes many types of birthmarks, but some run in families. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery.     Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.


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[User] What is (are) Meningoencephalocele ?

[Assistant] Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull.  There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone.  Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities.  The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.


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[User] What is (are) Familial Mediterranean fever ?

[Assistant] Familial Mediterranean fever (FMF) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis),  lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). FMF is usually inherited in an autosomal recessive fashion and is caused by mutations in the MEFV gene. Treatment for FMF often involves use of a medication called colchicine.


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[User] What is (are) X-linked adrenal hypoplasia congenita ?

[Assistant] X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body.  One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications are often life-threatening.  Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism.  The onset and severity of these signs and symptoms can vary, even among affected members of the same family.


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[User] What is (are) Cold urticaria ?

[Assistant] Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


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[User] What are the treatments for Childhood Brain and Spinal Cord Tumors ?

[Assistant]
Key Points
                    - There are different types of treatment for children with brain and spinal cord tumors.     - Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors.    - Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years.    - Some cancer treatments cause side effects months or years after treatment has ended.    - Three types of standard treatment are used:          - Surgery      - Radiation therapy      - Chemotherapy         - New types of treatment are being tested in clinical trials.         - High-dose chemotherapy with stem cell transplant        - Patients may want to think about taking part in a clinical trial.    - Patients can enter clinical trials before, during, or after starting their cancer treatment.    - Follow-up tests may be needed.

                    There are different types of treatment for children with brain and spinal cord tumors.
                    Different types of treatment are available for children with brain and spinal cord tumors. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment.   Because cancer in children is rare, taking part in a clinical trial should be considered. Clinical trials are taking place in many parts of the country. Some clinical trials are open only to patients who have not started treatment.

                    Children with brain or spinal cord tumors should have their treatment planned by a team of health care providers who are experts in treating childhood brain and spinal cord tumors.
                    Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other health care providers who are experts in treating children with brain tumors and who specialize in certain areas of medicine. These may include the following specialists:         -  Pediatrician.    -  Neurosurgeon.    -  Neurologist.    -  Neuro-oncologist.    -  Neuropathologist.    -  Neuroradiologist.    -  Radiation oncologist.    -  Endocrinologist.    -  Psychologist.    -  Ophthalmologist.    -  Rehabilitation specialist.    -  Social worker.    -  Nurse specialist.

                    Childhood brain and spinal cord tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years.
                    Childhood brain and spinal cord tumors may cause signs or symptoms that continue for months or years. Signs or symptoms caused by the tumor may begin before diagnosis. Signs or symptoms caused by treatment may begin during or right after treatment.

                    Some cancer treatments cause side effects months or years after treatment has ended.
                    These are called late effects. Late effects of cancer treatment may include the following:         - Physical problems.    - Changes in mood, feelings, thinking, learning, or memory.    -  Second cancers (new types of cancer).         Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information).

                    Three types of standard treatment are used:
                    Surgery      Surgery may be used to diagnose and treat childhood brain and spinal cord tumors. See the General Information section of this summary.        Radiation therapy      Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy:             -  External radiation therapy uses a machine outside the body to send radiation toward the cancer.      -  Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer.           The way the radiation therapy is given depends on the type of cancer being treated. External radiation therapy is used to treat childhood brain and spinal cord tumors.       Chemotherapy      Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly in the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated.    Anticancer drugs given by mouth or vein to treat brain and spinal cord tumors cannot cross the blood-brain barrier and enter the fluid that surrounds the brain and spinal cord. Instead, an anticancer drug is injected into the fluid-filled space to kill cancer cells there. This is called intrathecal chemotherapy.

                    New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     High-dose chemotherapy with stem cell transplant     High-dose chemotherapy with stem cell transplant is a way of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells.

                    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. Information about clinical trials is available from the NCI website.

                    Follow-up tests may be needed.
                    Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.   Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.


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[User] How many people are affected by X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?

[Assistant] The prevalence of XMEN is unknown. Only a few affected individuals have been described in the medical literature.


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[User] What are the genetic changes related to isolated Pierre Robin sequence ?

[Assistant] Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence.  The SOX9 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton, including the mandible.  The genetic changes associated with isolated Pierre Robin sequence occur near the SOX9 gene. These abnormalities are thought to disrupt regions of DNA called enhancers that normally regulate the activity of the SOX9 gene, reducing SOX9 gene activity. As a result, the SOX9 protein cannot properly control the genes essential for normal development of the lower jaw, causing micrognathia, and consequently, glossoptosis and cleft palate.


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[User] What is (are) Satoyoshi syndrome ?

[Assistant] Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder.


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[User] What are the treatments for atopic dermatitis ?

[Assistant] These resources address the diagnosis or management of atopic dermatitis:  - American Academy of Dermatology: Atopic Dermatitis: Tips for Managing   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) Liposarcoma ?

[Assistant] Liposarcoma is a tumor that arises from fat tissue.  This tumor often occurs in the thigh, behind the knee, or in the abdomen, but it can be found in other parts of the body.  Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor.


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[User] What are the genetic changes related to 2-hydroxyglutaric aciduria ?

[Assistant] The different types of 2-hydroxyglutaric aciduria result from mutations in several genes. D-2-HGA type I is caused by mutations in the D2HGDH gene; type II is caused by mutations in the IDH2 gene. L-2-HGA results from mutations in the L2HGDH gene. Combined D,L-2-HGA is caused by mutations in the SLC25A1 gene.  The D2HGDH and L2HGDH genes provide instructions for making enzymes that are found in mitochondria, which are the energy-producing centers within cells. The enzymes break down compounds called D-2-hydroxyglutarate and L-2-hydroxyglutarate, respectively, as part of a series of reactions that produce energy for cell activities. Mutations in either of these genes lead to a shortage of functional enzyme, which allows D-2-hydroxyglutarate or L-2-hydroxyglutarate to build up in cells. At high levels, these compounds can damage cells and lead to cell death. Brain cells appear to be the most vulnerable to the toxic effects of these compounds, which may explain why the signs and symptoms of D-2-HGA type I and L-2-HGA primarily involve the brain.  The IDH2 gene provides instructions for making an enzyme in mitochondria that normally produces a different compound. When the enzyme is altered by mutations, it takes on a new, abnormal function: production of the potentially toxic compound D-2-hydroxyglutarate. The resulting excess of this compound damages brain cells, leading to the signs and symptoms of D-2-HGA type II. It is unclear why an accumulation of D-2-hydroxyglutarate may be associated with cardiomyopathy in some people with this form of the condition.  The SLC25A1 gene provides instructions for making a protein that transports certain molecules, such as citrate, in and out of mitochondria. Mutations in the SLC25A1 gene reduce the protein's function, which prevents it from carrying out this transport. Through processes that are not fully understood, a loss of this transport allows both D-2-hydroxyglutarate and L-2-hydroxyglutarate to build up, which damages brain cells. Researchers suspect that an imbalance of other molecules, particularly citrate, also contributes to the severe signs and symptoms of combined D,L-2-HGA.


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[User] What is the outlook for Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ?

[Assistant] Certain factors affect treatment options and prognosis (chance of recovery). The prognosis (chance of recovery) and treatment options depend on the following:         - The type of ovarian cancer and how much cancer there is.    - The stage and grade of the cancer.    - Whether the patient has extra fluid in the abdomen that causes swelling.    - Whether all of the tumor can be removed by surgery.    - Whether there are changes in the  BRCA1  or  BRCA2  genes.    - The patients age and general health.    - Whether the cancer has just been diagnosed or has recurred (come back).


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[User] What are the symptoms of Vertebral fusion posterior lumbosacral blepharoptosis ?

[Assistant] What are the signs and symptoms of Vertebral fusion posterior lumbosacral blepharoptosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Vertebral fusion posterior lumbosacral blepharoptosis. 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 musculature 90% Ptosis 90% Vertebral segmentation defect 90% Limitation of joint mobility 50% Sacral dimple 50% Tarsal synostosis 50% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Congenital ptosis - Posterior fusion of lumbosacral vertebrae - 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 genetic changes related to achondrogenesis ?

[Assistant] Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively.  The genetic cause of achondrogenesis type 1A was unknown until recently, when researchers discovered that the condition can result from mutations in the TRIP11 gene. This gene provides instructions for making a protein called GMAP-210. This protein plays a critical role in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Mutations in the TRIP11 gene prevent the production of functional GMAP-210, which alters the structure and function of the Golgi apparatus. Researchers suspect that cells called chondrocytes in the developing skeleton may be most sensitive to these changes. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Malfunction of the Golgi apparatus in chondrocytes likely underlies the problems with bone formation in achondrogenesis type 1A.  Achondrogenesis type 1B is the most severe of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene cause the skeletal problems characteristic of achondrogenesis type 1B by disrupting the structure of developing cartilage, which prevents bones from forming properly.  Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.


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[User] What are the treatments for Gas in the Digestive Tract ?

[Assistant]
Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications. People who think they have too much gas can try to treat gas on their own before seeing a health care provider. Health care providers can provide advice about reducing gas and prescribe medications that may help.

Reducing swallowed air. Swallowing less air may help reduce gas, especially for people who burp frequently. A health care provider may suggest eating more slowly, avoiding gum and hard candies, or checking with a dentist to make sure dentures fit correctly.

Making dietary changes. People may be able to reduce gas by eating less of the foods that cause gas. However, many healthy foods may cause gas, such as fruits and vegetables, whole grains, and milk products. The amount of gas caused by certain foods varies from person to person. Effective dietary changes depend on learning through trial and error which foods cause a person to have gas and how much of the offending foods one can handle.

While fat does not cause gas, limiting high-fat foods can help reduce bloating and discomfort. Less fat in the diet helps the stomach empty faster, allowing gases to move more quickly into the small intestine.

Taking over-the-counter medications. Some over-the-counter medications can help reduce gas or the symptoms associated with gas:

- Alpha-galactosidase (Beano), an over-the-counter digestive aid, contains the sugar-digesting enzyme that the body lacks to digest the sugar in beans and many vegetables. The enzyme comes in liquid and tablet form. Five drops are added per serving or one tablet is swallowed just before eating to break down the gas-producing sugars. Beano has no effect on gas caused by lactose or fiber.  - Simethicone (Gas-X, Mylanta Gas) can relieve bloating and abdominal pain or discomfort caused by gas.  - Lactase tablets or drops can help people with lactose intolerance digest milk and milk products to reduce gas. Lactase tablets are taken just before eating foods that contain lactose; lactase drops can be added to liquid milk products. Lactose-free and lactose-reduced milk and milk products are available at most grocery stores.

Taking prescription medications. Health care providers may prescribe medications to help reduce symptoms, especially for people with small intestinal bacterial overgrowth or IBS. More information about IBS is provided in the NIDDK health topic, Irritable Bowel Syndrome fact sheet.


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[User] What is (are) Mowat-Wilson syndrome ?

[Assistant] Mowat-Wilson syndrome (MWS) is a rare genetic disorder that affects many systems of the body. The main features include moderate to severe intellectual disability, distinctive facial features, and epilepsy. Other features may include Hirschsprung disease; heart (cardiac) defects; kidney (renal) abnormalities; genital abnormalities; eye abnormalities; and short stature. It is caused by a mutation or deletion in the ZEB2 gene, which usually occurs for the first time (sporadically) in affected people. Treatment typically focuses on the specific symptoms in each person.


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[User] How many people are affected by progressive supranuclear palsy ?

[Assistant] The exact prevalence of progressive supranuclear palsy is unknown. It may affect about 6 in 100,000 people worldwide.


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[User] What are the symptoms of Microphthalmia syndromic 6 ?

[Assistant] What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 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) Aplasia/Hypoplasia affecting the eye 90% Microphthalmia 90% Cataract 50% Chorioretinal coloboma 50% Cognitive impairment 50% Iris coloboma 50% Microcornea 50% Abnormality of the fingernails 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the palate 7.5% Abnormality of the palpebral fissures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Postaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Sclerocornea 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Myopia 3/3 Anophthalmia 9/10 Blindness 8/11 Coloboma 3/5 High palate 3/6 Microcephaly 3/6 Sclerocornea 2/5 Absent speech 2/6 Anterior hypopituitarism 2/6 Aplasia/Hypoplasia of the corpus callosum 3/9 Cryptorchidism 2/6 Failure to thrive 2/6 Hearing impairment 2/6 Microcornea 1/3 Muscular hypotonia 2/6 Nystagmus 1/3 Orbital cyst 1/3 Retinal dystrophy 1/3 Retrognathia 2/6 Ventriculomegaly 3/9 Cerebral cortical atrophy 2/9 Hypothyroidism 2/9 Inferior vermis hypoplasia 2/9 Female hypogonadism 1/5 Preaxial hand polydactyly 2/11 Adrenal hypoplasia 1/6 Bifid scrotum 1/6 Brachycephaly 1/6 Cleft palate 1/6 Hypospadias 1/6 Microglossia 1/6 Micropenis 1/6 Renal hypoplasia 1/6 Small sella turcica 1/6 Cerebellar hypoplasia 1/9 Plagiocephaly 1/9 Abnormality of the cervical spine 1/10 Facial asymmetry 1/10 Lambdoidal craniosynostosis 1/10 Clinodactyly of the 5th finger 1/11 Finger syndactyly 1/11 Flexion contracture of thumb 1/11 Low-set ears 1/11 Posteriorly rotated ears 1/11 Protruding ear 1/11 Short middle phalanx of finger 1/11 Autosomal dominant inheritance - Bifid uvula - Brachydactyly syndrome - Delayed CNS myelination - High forehead - Hypoplasia of midface - Macrotia - Malar flattening - Severe muscular hypotonia - Single transverse palmar crease - Small scrotum - Toe syndactyly - Uplifted earlobe - 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 Striatonigral degeneration infantile ?

[Assistant] What are the signs and symptoms of Striatonigral degeneration infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Striatonigral degeneration infantile. 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 - Choreoathetosis - Developmental regression - Developmental stagnation - Dysphagia - Dystonia - Failure to thrive - Intellectual disability - Optic atrophy - Pendular nystagmus - Spasticity - 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 Winchester syndrome ?

[Assistant] These resources address the diagnosis or management of Winchester syndrome:  - Genetic Testing Registry: Winchester syndrome   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] Is juvenile Batten 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] Is deafness and myopia syndrome 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 is (are) Chronic Myelomonocytic Leukemia ?

[Assistant]
Key Points
                    - Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.    - Older age and being male increase the risk of chronic myelomonocytic leukemia.    - Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired.    - Certain factors affect prognosis (chance of recovery) and treatment options.

                    Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.
                    In chronic myelomonocytic leukemia (CMML), the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.


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[User] What are the genetic changes related to histiocytosis-lymphadenopathy plus syndrome ?

[Assistant] Histiocytosis-lymphadenopathy plus syndrome is caused by mutations in the SLC29A3 gene, which provides instructions for making a protein called equilibrative nucleoside transporter 3 (ENT3). ENT3 belongs to a family of proteins that transport molecules called nucleosides in cells. With chemical modification, nucleosides become the building blocks of DNA, its chemical cousin RNA, and molecules such as ATP and GTP, which serve as energy sources in the cell. Molecules derived from nucleosides play an important role in many functions throughout the body.  ENT3 is found in cellular structures called lysosomes, which break down large molecules into smaller ones that can be reused by cells. Researchers believe that this protein transports nucleosides generated by the breakdown of DNA and RNA out of lysosomes into the cell so they can be reused. The protein is also thought to transport nucleosides into structures called mitochondria, which are the energy-producing centers of cells. In mitochondria, nucleosides are likely used in the formation or repair of DNA found in these structures, known as mitochondrial DNA.  The SLC29A3 gene mutations involved in histiocytosis-lymphadenopathy plus syndrome reduce or eliminate the activity of the ENT3 protein. Researchers speculate that the resulting impairment of nucleoside transport leads to a buildup of nucleosides in lysosomes, which may be damaging to cell function. A lack of ENT3 activity may also lead to a reduction in the amount of nucleosides in mitochondria. This nucleoside shortage could impair cellular energy production, which would impact many body systems. It is unclear how the mutations lead to histiocytosis and other features of the condition or why affected individuals can have different patterns of signs and symptoms.


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[User] What is (are) Late-Onset Familial Alzheimer Disease ?

[Assistant] Late-onset familial Alzheimer disease is a form of familial Alzheimer disease that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is not completely understood; however, researchers suspect that it is a complex condition, which is likely associated with multiple susceptibility genes (such as the APOE e4 allele) in combination with environmental and lifestyle factors. Although complex conditions do tend to cluster in families, they do not follow a clear-cut pattern of inheritance. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.


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[User] What are the symptoms of Hawkinsinuria ?

[Assistant] What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. 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 hair quantity 90% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - 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 prothrombin thrombophilia inherited ?

[Assistant] The risk of developing an abnormal clot in a blood vessel depends on whether a person inherits one or two copies of the F2 gene mutation that causes prothrombin thrombophilia. In the general population, the risk of developing an abnormal blood clot is about 1 in 1,000 people per year. Inheriting one copy of the F2 gene mutation increases that risk to 2 to 3 in 1,000. People who inherit two copies of the mutation, one from each parent, may have a risk as high as 20 in 1,000.


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[User] what research (or clinical trials) is being done for Cavernous Malformation ?

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. Currently there is no therapy to prevent the development or progression of CCMs. NINDS-funded scientists have developed an animal model that studies two of the familial genes related to the development of CCMs. Research shows that the protein signaling pathway Rhoa/ROCK, which allows cells to communicate regarding the formation of cell structure, is involved in blood vessel activity/ and the flow of molecules and cells into and out of blood vessels. These scientists hypothesize that blocking ROCK activity will inhibit CCM development and hemorrhage, and possibly create a therapy for these malformations.


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[User] What is (are) Cirrhosis ?

[Assistant] Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to        - Easy bruising or bleeding, or nosebleeds    - Swelling of the abdomen or legs     - Extra sensitivity to medicines    - High blood pressure in the vein entering the liver    - Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly.    -  Kidney failure    - Jaundice    - Severe itching    - Gallstones       A small number of people with cirrhosis get liver cancer.    Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy.    Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] Who is at risk for Nutrition for Early Chronic Kidney Disease in Adults? ?

[Assistant] Millions of Americans are at risk for developing CKD because they have diabetes, high blood pressure, or both. High blood glucose levels put people with diabetes at risk for heart disease, stroke, amputation, and eye and kidney problems. People with high blood pressure are at risk for damaged blood vessels, including tiny vessels in the kidneys.


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[User] What is (are) Charcot-Marie-Tooth disease ?

[Assistant] Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. Defects in many different genes cause different forms of this disease. Common symptoms may include foot drop, foot deformity, loss of lower leg muscle, numbness in the foot or leg, slapping" gait (feet hit the floor hard when walking), and weakness of the hips, legs, or feet. There is currently no cure for Charcot-Marie-Tooth disease, but physical therapy, occupational therapy, braces and other orthopedic devices, pain medication, and orthopedic surgery can help manage and improve symptoms. There are over 40 types of Charcot-Marie-Tooth disease. You can search for more information on a particular type of Charcot-Marie-Tooth disease from the GARD Home page. Enter the name of the condition in the GARD search box, and then select the type from the drop down menu.


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[User] What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ?

[Assistant] Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a type of brain tissue called white matter. White matter consists of nerve fibers (axons) covered by a substance called myelin that insulates and protects them. The axons extend from nerve cells (neurons) and transmit nerve impulses throughout the body. Areas of damage to this brain tissue (white matter lesions) can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is swellings called spheroids in the axons of the brain, which are a sign of axon damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells are specialized brain cells that protect and maintain neurons. Damage to myelin and neurons is thought to contribute to many of the neurological signs and symptoms in people with ALSP.  Symptoms of ALSP usually begin in a person's forties and worsen over time. Personality changes, including depression and a loss of social inhibitions, are among the earliest symptoms of ALSP. Affected individuals may develop memory loss and loss of executive function, which is the ability to plan and implement actions and develop problem-solving strategies. Loss of this function impairs skills such as impulse control, self-monitoring, and focusing attention appropriately. Some people with ALSP have mild seizures, usually only when the condition begins. As ALSP progresses, it causes a severe decline in thinking and reasoning abilities (dementia).  Over time, motor skills are affected, and people with ALSP may have difficulty walking. Many develop a pattern of movement abnormalities known as parkinsonism, which includes unusually slow movement (bradykinesia), involuntary trembling (tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor problems are variable, even among individuals in the same family, although almost all affected individuals ultimately become unable to walk, speak, and care for themselves.  ALSP was previously thought to be two separate conditions, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic leukodystrophy (POLD), both of which cause very similar white matter damage and cognitive and movement problems. POLD was thought to be distinguished by the presence of pigmented glial cells and an absence of spheroids; however, people with HDLS can have pigmented cells, too, and people with POLD can have spheroids. HDLS and POLD are now considered to be part of the same disease spectrum, which researchers have recommended calling ALSP.


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[User] What to do for Acquired Cystic Kidney Disease ?

[Assistant] - Acquired cystic kidney disease happens when a person's kidneys develop fluid-filled sacs, called cysts, over time.  - Acquired cystic kidney disease occurs in children and adults who have      - chronic kidney disease (CKD)    - end-stage kidney disease (ESRD)    - People with acquired cystic kidney disease may develop the following complications:      - an infected cyst, which can cause fever and back pain    - blood in the urine, which can signal that a cyst in the kidney is bleeding    - tumors in the kidneys    - To confirm the diagnosis, the health care provider may order one or more imaging tests:      - Ultrasound    - Computerized tomography (CT) scan    - Magnetic resonance imaging (MRI)    - If acquired cystic kidney disease is not causing complications, a person does not need treatment.  - A health care provider will treat infections with antibioticsmedications that kill bacteria.  - If large cysts are causing pain, a health care provider may drain the cyst using a long needle inserted into the cyst through the skin.  - A surgeon may perform an operation to remove tumors or suspected tumors. In rare cases, a surgeon performs an operation to stop cysts from bleeding.


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[User] What are the treatments for Noonan syndrome ?

[Assistant] How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.


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[User] What are the treatments for catecholaminergic polymorphic ventricular tachycardia ?

[Assistant] These resources address the diagnosis or management of catecholaminergic polymorphic ventricular tachycardia:  - Cleveland Clinic: Management of Arrhythmias  - Gene Review: Gene Review: Catecholaminergic Polymorphic Ventricular Tachycardia  - Genetic Testing Registry: Catecholaminergic polymorphic ventricular tachycardia  - Genetic Testing Registry: Ventricular tachycardia, catecholaminergic polymorphic, 2  - MedlinePlus Encyclopedia: Fainting  - MedlinePlus Encyclopedia: Ventricular Tachycardia   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 Ehlers-Danlos syndrome, spondylocheirodysplastic type ?

[Assistant] What are the signs and symptoms of Ehlers-Danlos syndrome, spondylocheirodysplastic type ? The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, spondylocheirodysplastic 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) Blue sclerae 90% Bruising susceptibility 90% Hyperextensible skin 90% Proptosis 90% Short stature 90% Skeletal dysplasia 90% Thin skin 90% Abnormality of epiphysis morphology 50% Abnormality of the metaphyses 50% Absent palmar crease 50% Platyspondyly 50% Reduced bone mineral density 50% Skeletal muscle atrophy 50% Tapered finger 50% Flexion contracture 7.5% Autosomal recessive inheritance - Bifid uvula - Broad femoral neck - Camptodactyly of finger - Cigarette-paper scars - Delayed eruption of teeth - Dental malocclusion - Flat capital femoral epiphysis - High palate - Hypodontia - Irregular vertebral endplates - Joint laxity - Metaphyseal widening - Moderately short stature - Osteopenia - Pes planus - Short femoral neck - Short metacarpal - Short phalanx of finger - Thenar muscle atrophy - Waddling gait - 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 the outlook for Extragonadal Germ Cell Tumors ?

[Assistant] Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - Whether the tumor is nonseminoma or seminoma.    - The size of the tumor and where it is in the body.     - The blood levels of AFP, -hCG, and LDH.    - Whether the tumor has spread to other parts of the body.    - The way the tumor responds to initial treatment.    - Whether the tumor has just been diagnosed or has recurred (come back).


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[User] What is (are) hereditary sensory and autonomic neuropathy type V ?

[Assistant] Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.  The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.


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[User] What are the symptoms of Niemann-Pick disease type A ?

[Assistant] What are the signs and symptoms of Niemann-Pick disease type A? The Human Phenotype Ontology provides the following list of signs and symptoms for Niemann-Pick disease type A. 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) Cherry red spot of the macula 50% Athetosis - Autosomal recessive inheritance - Bone-marrow foam cells - Constipation - Diffuse reticular or finely nodular infiltrations - Failure to thrive - Feeding difficulties in infancy - Foam cells with lamellar inclusion bodies - Hepatomegaly - Hyporeflexia - Infantile onset - Intellectual disability - Lymphadenopathy - Microcytic anemia - Muscle weakness - Muscular hypotonia - Osteoporosis - Protuberant abdomen - Recurrent respiratory infections - Rigidity - Sea-blue histiocytosis - Short stature - Spasticity - Splenomegaly - Vomiting - Xanthomatosis - 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) xeroderma pigmentosum ?

[Assistant] Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.  The signs of xeroderma pigmentosum usually appear in infancy or early childhood. Many affected children develop a severe sunburn after spending just a few minutes in the sun. The sunburn causes redness and blistering that can last for weeks. Other affected children do not get sunburned with minimal sun exposure, but instead tan normally. By age 2, almost all children with xeroderma pigmentosum develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips); this type of freckling rarely occurs in young children without the disorder. In affected individuals, exposure to sunlight often causes dry skin (xeroderma) and changes in skin coloring (pigmentation). This combination of features gives the condition its name, xeroderma pigmentosum.  People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer. Without sun protection, about half of children with this condition develop their first skin cancer by age 10. Most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on the face, lips, and eyelids. Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer, including brain tumors. Additionally, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer.  The eyes of people with xeroderma pigmentosum may be painfully sensitive to UV rays from the sun. If the eyes are not protected from the sun, they may become bloodshot and irritated, and the clear front covering of the eyes (the cornea) may become cloudy. In some people, the eyelashes fall out and the eyelids may be thin and turn abnormally inward or outward. In addition to an increased risk of eye cancer, xeroderma pigmentosum is associated with noncancerous growths on the eye. Many of these eye abnormalities can impair vision.  About 30 percent of people with xeroderma pigmentosum develop progressive neurological abnormalities in addition to problems involving the skin and eyes. These abnormalities can include hearing loss, poor coordination, difficulty walking, movement problems, loss of intellectual function, difficulty swallowing and talking, and seizures. When these neurological problems occur, they tend to worsen with time.  Researchers have identified at least eight inherited forms of xeroderma pigmentosum: complementation group A (XP-A) through complementation group G (XP-G) plus a variant type (XP-V). The types are distinguished by their genetic cause. All of the types increase skin cancer risk, although some are more likely than others to be associated with neurological abnormalities.


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[User] What are the symptoms of Pneumonia ?

[Assistant]
The signs and symptoms of pneumonia vary from mild to severe. Many factors affect how serious pneumonia is, including the type of germ causing the infection and your age and overall health. (For more information, go to "Who Is at Risk for Pneumonia?")

See your doctor promptly if you:

Have a high fever

Have shaking chills

Have a cough with phlegm (a slimy substance), which doesn't improve or worsens

Develop shortness of breath with normal daily activities

Have chest pain when you breathe or cough

Feel suddenly worse after a cold or the flu

People who have pneumonia may have other symptoms, including nausea (feeling sick to the stomach), vomiting, and diarrhea.

Symptoms may vary in certain populations. Newborns and infants may not show any signs of the infection. Or, they may vomit, have a fever and cough, or appear restless, sick, or tired and without energy.

Older adults and people who have serious illnesses or weak immune systems may have fewer and milder symptoms. They may even have a lower than normal temperature. If they already have a lung disease, it may get worse. Older adults who have pneumonia sometimes have sudden changes in mental awareness.

Complications of Pneumonia

Often, people who have pneumonia can be successfully treated and not have complications. But some people, especially those in high-risk groups, may have complications such as:

Bacteremia (bak-ter-E-me-ah). This serious complication occurs if the infection moves into your bloodstream. From there, it can quickly spread to other organs, including your brain.

Lung abscesses. An abscess occurs if pus forms in a cavity in the lung. An abscess usually is treated with antibiotics. Sometimes surgery or drainage with a needle is needed to remove the pus.

Pleural effusion. Pneumonia may cause fluid to build up in the pleural space. This is a very thin space between two layers of tissue that line the lungs and the chest cavity. Pneumonia can cause the fluid to become infecteda condition called empyema (em-pi-E-ma). If this happens, you may need to have the fluid drained through a chest tube or removed with surgery.


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[User] what research (or clinical trials) is being done for Alzheimer's Disease ?

[Assistant] Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or intervention in people to see if it is safe and effective. Clinical trials are the best way to find out whether a particular intervention actually slows, delays, or prevents Alzheimers disease. Trials may compare a potential new treatment with a standard treatment or placebo (mock treatment). Or, they may study whether a certain behavior or condition affects the progress of Alzheimers or the chances of developing it. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.


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[User] What is (are) Hyperkalemic periodic paralysis ?

[Assistant] Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, and long periods without food. Muscle strength improves between attacks, although many affected people continue to experience mild stiffness, particularly in muscles of the face and hands. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant fashion.


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[User] What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?

[Assistant] RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth.  The IGFBP7 gene mutation that causes RAMSVPS results in an abnormally short IGFBP7 protein that does not function properly. Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder.


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[User] How to diagnose Hypohidrotic ectodermal dysplasia ?

[Assistant] Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm the diagnosis. Other reasons for testing may include to identify carriers or for prenatal diagnosis. Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes. We recommend that you speak with a health care provider or a genetics professional to learn more about your testing options. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


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[User] What are the genetic changes related to Ehlers-Danlos syndrome ?

[Assistant] Mutations in more than a dozen genes have been found to cause Ehlers-Danlos syndrome. The classical type results most often from mutations in either the COL5A1 gene or the COL5A2 gene. Mutations in the TNXB gene have been found in a very small percentage of cases of the hypermobility type (although in most cases, the cause of this type is unknown). The vascular type results from mutations in the COL3A1 gene. PLOD1 gene mutations cause the kyphoscoliosis type. Mutations in the COL1A1 gene or the COL1A2 gene result in the arthrochalasia type. The dermatosparaxis type is caused by mutations in the ADAMTS2 gene. The other, less well-characterized forms of Ehlers-Danlos syndrome result from mutations in other genes, some of which have not been identified.  Some of the genes associated with Ehlers-Danlos syndrome, including COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2, provide instructions for making pieces of several different types of collagen. These pieces assemble to form mature collagen molecules that give structure and strength to connective tissues throughout the body. Other genes, including ADAMTS2, PLOD1, and TNXB, provide instructions for making proteins that process or interact with collagen. Mutations that cause the different forms of Ehlers-Danlos syndrome disrupt the production or processing of collagen, preventing these molecules from being assembled properly. These defects weaken connective tissues in the skin, bones, and other parts of the body, resulting in the characteristic features of this condition.