bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Chromosome 17p13.1 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17p13.1 deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Webbed neck 5% Ankle clonus - Anteverted nares - Autosomal dominant inheritance - Broad hallux - Contiguous gene syndrome - Elbow flexion contracture - Epicanthus - Feeding difficulties - High forehead - High palate - Highly arched eyebrow - Hydrocephalus - Hyperactive deep tendon reflexes - Inverted nipples - Knee flexion contracture - Ligamentous laxity - Long hallux - Muscular hypotonia - Prominent nasal bridge - Proximal placement of thumb - Short chin - Short foot - Short neck - Short palm - Sleep disturbance - Strabismus - 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.
Tourette syndrome is a complex neurological disorder that is characterized by repetitive, sudden, uncontrolled (involuntary) movements and sounds (vocalizations) called tics. Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. A variety of genetic and environmental factors likely play a role in causing Tourette syndrome. A small number of people with Tourette syndrome have been found to have mutations involving the SLITRK1 gene. The syndrome is believed to be linked to problems in certain areas of the brain, and the chemical substances (dopamine, serotonin, and norepinephrine) that help nerve cells talk to one another. It is estimated that about 1% of the population has Tourette syndrome. Many people with very mild tics may not be aware of them and never seek medical help. Tourette syndrome is four times as likely to occur in boys as in girls. Although Tourette syndrome can be a chronic condition with symptoms lasting a lifetime, most people with the condition experience their worst symptoms in their early teens, with improvement occurring in the late teens and continuing into adulthood.
What are the signs and symptoms of Tourette syndrome? The early symptoms of Tourette syndrome are almost always noticed first in childhood, with the average onset between the ages of 3 and 9 years. Although the symptoms of Tourette syndrome vary from person to person and range from very mild to severe, the majority of cases fall into the mild category. The Human Phenotype Ontology provides the following list of signs and symptoms for Tourette syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aggressive behavior - Attention deficit hyperactivity disorder - Autosomal dominant inheritance - Echolalia - Motor tics - Obsessive-compulsive behavior - Phonic tics - Self-mutilation - Sleep disturbance - 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.
What causes Tourette syndrome? Although the cause of Tourette syndrome is unknown, current research points to abnormalities in certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells. Given the often complex presentation of Tourette syndrome, the cause of the disorder is likely to be equally complex. In many cases, there is a family history of tics, Tourette Syndrome, ADHD, OCD. In 2005, scientists discovered the first gene mutation that may cause some cases of Tourette syndrome. This gene, named SLITRK1, is normally involved with the growth of nerve cells and how they connect with other neurons.  The mutated gene is located in regions of the brain (basal ganglia, cortex, and frontal lobes) previously identified as being associated with Tourette syndrome.
Is Tourette syndrome inherited? Evidence from twin and family studies suggests that Tourette syndrome is an inherited disorder. Although early family studies suggested an autosomal dominant mode of inheritance (an autosomal dominant disorder is one in which only one copy of the defective gene, inherited from one parent, is necessary to produce the disorder), more recent studies suggest that the pattern of inheritance is much more complex. Although there may be a few genes with substantial effects, it is also possible that many genes with smaller effects and environmental factors may play a role in the development of Tourette syndrome. Genetic studies also suggest that some forms of ADHD and OCD are genetically related to Tourette syndrome, but there is less evidence for a genetic relationship between Tourette syndrome and other neurobehavioral problems that commonly co-occur with Tourette syndrome. Due to the complex nature of Tourette syndrome inheritance, affected families and those at risk may benefit from consulting with a genetics professional. Information about how to locate a genetics professional is provided in the Living With section.
How might Tourette syndrome be treated? Many individuals with Tourette syndrome have mild symptoms and do not require medication. However, effective medications are available for those whose symptoms interfere with functioning. Neuroleptics are the most consistently useful medications for tic suppression; a number are available but some are more effective than others (for example, haloperidol and pimozide). Unfortunately, there is no one medication that is helpful to all people with Tourette syndrome, nor does any medication completely eliminate symptoms. In addition, all medications have side effects. Additional medications with demonstrated efficacy include alpha-adrenergic agonists such as clonidine and guanfacine. These medications are used primarily for hypertension but are also used in the treatment of tics. Effective medications are also available to treat some of the associated neurobehavioral disorders that can occur in patients with Tourette syndrome. Recent research shows that stimulant medications such as methylphenidate and dextroamphetamine can lessen ADHD symptoms in people with Tourette syndrome without causing tics to become more severe.  However, the product labeling for stimulants currently contraindicates the use of these drugs in children with tics/Tourette syndrome and those with a family history of tics.  For obsessive-compulsive symptoms that significantly disrupt daily functioning, the serotonin reuptake inhibitors (clomipramine, fluoxetine, fluvoxamine, paroxetine, and sertraline) have been proven effective in some individuals. Behavioral treatment such as awareness training and competing response training can also be used to reduce tics. Psychotherapy may be helpful as well. It can help with accompanying problems, such as ADHD, obsessions, depression and anxiety. Therapy can also help people cope with Tourette syndrome. For debilitating tics that don't respond to other treatment, deep brain stimulation (DBS) may help. DBS consists of implanting a battery-operated medical device (neurostimulator) in the brain to deliver electrical stimulation to targeted areas that control movement. Further research is needed to determine whether DBS is beneficial for people with Tourette syndrome.
What are the signs and symptoms of Ring chromosome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 8. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the ureter 90% Anteverted nares 90% Cognitive impairment 90% Deviation of finger 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Low posterior hairline 90% Polyhydramnios 90% Round ear 90% Short nose 90% Sloping forehead 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Branchial arch syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Branchial arch syndrome X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Abnormality of the pinna 90% Branchial anomaly 90% Conductive hearing impairment 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short stature 90% Triangular face 90% Webbed neck 90% Aplasia/Hypoplasia of the eyebrow 50% Cryptorchidism 50% Epicanthus 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary artery 7.5% Abnormality of the pulmonary valve 7.5% Asymmetric growth 7.5% Facial asymmetry 7.5% Pectus excavatum 7.5% Ptosis 7.5% Hearing impairment - High palate - Low-set ears - Protruding ear - Pulmonic stenosis - Specific learning disability - 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.
Annular atrophic lichen planus (LP) is a rare form of lichen planus, which is a condition that affects the skin and/or mouth. In annular atrophic LP, specifically, affected people develop skin lesions with features of both annular LP and atrophic LP - ring-shaped, slightly raised, purple lesions with central atrophy (tissue breakdown). Although these lesions can be found anywhere on the body, they most commonly affect the trunk and legs. The exact underlying cause of annular atrophic LP is unknown. Treatment is not always necessary as some cases of annular atrophic LP resolve on their own. Mild cases that are diagnosed early can often be managed with topical steroids, while more intensive therapies may be required for severe cases.
Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.
Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and childhood, but may also be observed in adults, particularly in pregnant women. Small pyogenic granulomas may go away on their own. Larger lesions are treated with surgery, electrocautery, freezing, or lasers.
What are the signs and symptoms of Wittwer syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wittwer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Anteverted nares 90% Broad forehead 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Delayed skeletal maturation 90% EEG abnormality 90% Epicanthus 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Neurological speech impairment 90% Seizures 90% Short stature 90% Single transverse palmar crease 90% Thin vermilion border 90% Abnormality of the ureter 50% Cryptorchidism 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormal lung lobation 7.5% Abnormality of the teeth 7.5% Abnormality of the thorax 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Aplasia/Hypoplasia of the lungs 7.5% Corneal dystrophy 7.5% Displacement of the external urethral meatus 7.5% Intestinal malrotation 7.5% Optic atrophy 7.5% Premature graying of hair 7.5% Growth delay - Intellectual disability - 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.
Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA.
What causes hypophosphatasia? Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineralization process. A shortage of the enzyme also causes other substances to build up in the body. These abnormalities lead to the features of HPP. ALPL mutations that almost completely eliminate alkaline phosphatase activity generally cause the more severe forms of HPP, while mutations that reduce activity to a lesser extent often cause the milder forms of HPP.
How is hypophosphatasia inherited? Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP.
How might hypophosphatasia be treated? Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement.
Mucopolysaccharidosis type IVA (MPS IVA, also called Morquio syndrome, type A) is a metabolic condition that primarily affects the skeleton. The severity, age of onset, and associated symptoms vary significantly from person to person and range from a severe and rapidly progressive, early-onset form to a slowly progressive, later-onset form. The severe form is usually diagnosed between ages 1 and 3, while the milder form may not become evident until late childhood or adolescence. Signs and symptoms include various skeletal abnormalities such as short stature, knock knees, pectus carinatum, and malformations of the spine, hips and wrists. Affected people may also experience involvement of other organ systems such as respiratory problems, valvular heart disease, hearing impairment, corneal clouding, dental abnormalities, hepatomegaly, and spinal cord compression. MPS IVA is caused by changes (mutations) in the GALNS gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.