bowang0911/MedQuAD huggingface dataset:
How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an affected individual, or it may be inherited from an affected parent. Each child of an individual with an autosomal dominant condition has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Congenital radio-ulnar synostosis may also occur with a variety of other abnormalities and may be associated with a chromosome abnormality or genetic syndrome. In these cases, the inheritance pattern may depend upon that of the underlying genetic abnormality. Some genetic abnormalities that have been reported in association with this condition include Apert syndrome, Carpenter syndrome, arthrogryposis, Treacher Collins syndrome, Williams syndrome, Klinefelter syndrome, and Holt-Oram syndrome. Congenital radio-ulnar synostosis may also occur sporadically as an isolated abnormality, in which case the cause may be unknown.
Pure autonomic failure is characterized by generalized autonomic failure without central nervous system (brain or spinal cord) involvement. The autonomic nervous system is the part of our bodies that controls involuntary actions, such as the widening or narrowing of our blood vessels. Failure of this system can cause a variety of symptoms. The most common symptom of pure autonomic failure is orthostatic hypotension. Other symptoms may include decreased sweating, heat intolerance, inability to empty the bladder, erectile dysfunction, incontinence or constipation, and pupil changes. The cause of this condition is usually unknown.
What are the signs and symptoms of Harlequin ichthyosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Harlequin ichthyosis. 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 eyelid 90% Depressed nasal ridge 90% Hearing abnormality 90% Hyperkeratosis 90% Recurrent respiratory infections 90% Abnormality of the mouth 50% Limitation of joint mobility 50% Cataract 7.5% Dehydration 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Malignant hyperthermia 7.5% Respiratory insufficiency 7.5% Self-injurious behavior 7.5% Sudden cardiac death 7.5% Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Ectropion - Premature birth - Proptosis - Rigidity - Short finger - 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 harlequin ichthyosis? Harlequin ichthyosis is caused by mutations in the ABCA12 gene. This gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein, while others lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.
Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. 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 specific genetic test should contact a health care provider or a genetics professional.
What are the signs and symptoms of Multiple epiphyseal dysplasia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. 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 epiphysis morphology 90% Osteoarthritis 90% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Patellar aplasia 50% Scoliosis 50% Talipes 50% Hearing abnormality 7.5% Short stature 7.5% Autosomal recessive inheritance - Brachydactyly syndrome - Epiphyseal dysplasia - Flat capital femoral epiphysis - Hip dysplasia - Hypoplasia of the femoral head - Limited elbow flexion - Multiple epiphyseal dysplasia - Short metacarpal - Talipes equinovarus - 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.
Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'DOA plus.' DOA is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes, some of which have not been identified. There is currently no way to prevent or cure DOA, but affected people may benefit from low vision aids.
How is dominant optic atrophy inherited? Dominant optic atrophy (DOA) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from a parent. In other cases, the mutation occurs for the first time in an affected person and is not inherited from a parent (a de novo mutation). When a person with a mutation that causes DOA has children, each child has a 50% (1 in 2) chance to inherit the mutation. While a mutation responsible for DOA can cause the condition, not all people with a mutation will develop DOA. This means that DOA has reduced penetrance. There are likely to be other genetic and environmental factors that influence whether a person with a mutation will develop features of DOA. Additionally, not all people who do develop features will be affected the same way, and severity can vary - even within families. This phenomenon is known as variable expressivity. People with questions about genetic risks or genetic testing for themselves or family members are encouraged to speak with a genetics professional.
How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-vision aids in individuals with severely decreased visual acuity can be helpful. A preliminary study published in February 2013 found that several individuals with specific OPA1 mutations who underwent idebenone therapy (which has been used to treat some cases of Leber hereditary optic neuropathy) experienced some improvement of visual function. However, more thorough research is necessary to confirm these findings. Acupuncture is also being studied as a potential treatment. Avoiding tobacco and alcohol intake and certain medications (antibiotics, antivirals), which can interfere with mitochondrial metabolism, may help to slow the progression. Cochlear implants have been shown to markedly improve hearing in individuals with sensorineural hearing loss.
Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other.  Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS.  BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms.
How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected individual may have inherited a mutated copy of the LEMD3 gene from an affected parent, or they may have been born with a new (de novo) mutation. There is a 50% (1 in 2) chance for each child of an affected individual to inherit the mutated gene, and a 50% chance for each child  to not inherit the mutated gene. It has been proposed that the inheritance of BOS shows incomplete penetrance. Penetrance refers to the proportion of people with a particular genetic change (such as a mutation in a specific gene) who exhibit signs and symptoms of a genetic disorder. If some people with the mutation do not develop features of the disorder, the condition is said to have reduced (or incomplete) penetrance. Reduced penetrance probably results from a combination of genetic, environmental, and lifestyle factors, many of which are unknown. This phenomenon can make it challenging for genetics professionals to interpret a persons family medical history and predict the risk of passing a genetic condition to future generations. This means that not all individuals who have a new or inherited mutation in the LEMD3 gene will necessarily develop signs and symptoms of BOS.
Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
How might Buschke Ollendorff syndrome be treated? There is currently no cure for BOS. Surgical removal of lesions on or under the skin may be done for cosmetic purposes. In some patients, surgical treatment of deafness may be possible. Surgery might also be necessary for some of the signs or symptoms associated with BOS. Osteopoikilosis is typically asymptomatic, but about 15-20% of individuals experience pain and joint effusions (fluid build-up). Usually, no special restrictions in activity are required for individuals with BOS.[3150]
Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than men, and has a variable prognosis. Scarring of the affected  mucosa of the eye may lead to blindness and tends to be the most feared complication. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5.  Treatment is dependent on the person's specific symptoms.
What are the signs and symptoms of Leber congenital amaurosis 15? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 15. 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) Hypermetropia 5% Abnormality of color vision - Autosomal recessive inheritance - Constriction of peripheral visual field - Impaired smooth pursuit - Myopia - Nyctalopia - Nystagmus - Optic disc pallor - Pigmentary retinopathy - Retinal degeneration - Rod-cone dystrophy - Slow pupillary light response - Visual impairment - 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.
Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, serious organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.
What are the signs and symptoms of Chromosome 16p13.3 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 16p13.3 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) Abnormal facial shape - Abnormality of the hairline - Abnormality of the kidney - Autosomal dominant contiguous gene syndrome - Broad hallux - Broad thumb - Clinodactyly of the 5th finger - Convex nasal ridge - Death in infancy - Facial hemangioma - Facial hypertrichosis - Failure to thrive - Feeding difficulties in infancy - High palate - Hypoplastic left heart - Intellectual disability - Low hanging columella - Microcephaly - Muscular hypotonia - Myopia - Nevus sebaceous - Obesity - Polysplenia - Prominent nose - Recurrent infections - Scoliosis - Seizures - Sleep disturbance - Somatic mosaicism - 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.
What are the signs and symptoms of Sulfite oxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Sulfite oxidase deficiency. 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) Agitation - Ataxia - Autosomal recessive inheritance - Choreoathetosis - Death in infancy - Decreased urinary sulfate - Delayed eruption of teeth - Ectopia lentis - Eczema - Fine hair - Generalized dystonia - Hemiplegia - Hypertonia - Increased urinary sulfite - Infantile muscular hypotonia - Seizures - Sulfite oxidase deficiency - 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.
Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages.
What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of CD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with multicentric CD, specifically. HHV-8 is found in nearly all people who are HIV-positive and develop multicentric CD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause multicentric CD by making its own IL-6.
Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern.