bowang0911/MedQuAD huggingface dataset:
Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may also have trouble controlling bladder function as a result of damage to the nerves of the bladder (neurogenic bladder). Approximately half of the individuals with adult polyglucosan body disease also experience some degree of intellectual impairment. Mutations in the GBE1 gene can cause adult polyglucosan body disease. In some cases, no mutation can be found and the cause of the disease is not known. Adult polyglucosan body disease is thought to be inherited in an autosomal recessive manner. Treatment usually involves a team of specialists who can address the specific symptoms such as walking difficulties, incontinence, and intellectual impairment.
What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. 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 pyramidal signs 90% Abnormal renal physiology 90% Cognitive impairment 90% Erectile abnormalities 90% Gait disturbance 90% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Peripheral neuropathy 90% Behavioral abnormality 50% Skin ulcer 50% Abnormality of extrapyramidal motor function 7.5% Developmental regression 7.5% EMG abnormality 7.5% Incoordination 7.5% Limitation of joint mobility 7.5% Abnormal upper motor neuron morphology - Abnormality of metabolism/homeostasis - Adult onset - Autosomal recessive inheritance - Distal sensory impairment - Paresthesia - Slow progression - Tetraparesis - 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 Autosomal dominant caf au lait spots ? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant caf au lait spots . 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) Cafe-au-lait spot 90% Freckling 7.5% Autosomal dominant inheritance - Lisch nodules - Multiple cafe-au-lait spots - 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.
Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia). In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%.
What are the signs and symptoms of Tracheoesophageal fistula? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheoesophageal fistula. 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) Esophageal atresia - Tracheoesophageal fistula - 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.
Is tracheoesophageal fistula inherited? In most cases, tracheoesophageal fistula (TEF) is not inherited and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors). However, in most isolated cases, no specific genetic changes or environmental factors have been proven to cause the condition. When TEF occurs as a feature of a specific genetic syndrome or chromosome abnormality, it may follow the inheritance pattern and recurrence risk for the underlying condition. In these cases, it may be caused by changes in single genes or chromosomes, or it may be multifactorial.
What are the signs and symptoms of Pilodental dysplasia with refractive errors? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilodental dysplasia with refractive errors. 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% Abnormality of dental morphology 90% Anteverted nares 90% Hypermetropia 90% Hypohidrosis 90% Irregular hyperpigmentation 90% Long philtrum 90% Myopia 90% Reduced number of teeth 90% Thin vermilion border 90% Astigmatism 50% Hyperkeratosis 50% Cognitive impairment 7.5% Abnormality of the nail - Autosomal recessive inheritance - Brittle hair - Conical incisor - Ectodermal dysplasia - Follicular hyperkeratosis - Hypodontia - Reticular hyperpigmentation - Sparse scalp hair - Wide nasal bridge - 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 Abruzzo Erickson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Abruzzo Erickson 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) Cleft palate 90% Displacement of the external urethral meatus 90% Hypoplasia of the zygomatic bone 90% Macrotia 90% Malar flattening 90% Chorioretinal coloboma 50% Iris coloboma 50% Radioulnar synostosis 50% Sensorineural hearing impairment 50% Short stature 50% Ulnar deviation of finger 50% Abnormal localization of kidney 7.5% Abnormality of dental morphology 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Chin dimple 7.5% Conductive hearing impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Microcornea 7.5% Short toe 7.5% Toe syndactyly 7.5% Coloboma - Hearing impairment - Hypospadias - Protruding ear - 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.
Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended.
What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyramidal tract dysfunction (e.g., increased tone in certain muscles, paralysis of voluntary movements, Babinski sign, increased deep tendon reflexes), peripheral neuropathy, dementia, and muscle contractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Behr 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 color vision 90% Cognitive impairment 90% Hypertonia 90% Incoordination 90% Nystagmus 90% Optic atrophy 90% Strabismus 90% Visual impairment 50% Achilles tendon contracture - Adductor longus contractures - Ataxia - Autosomal recessive inheritance - Babinski sign - Cerebellar atrophy - Gait disturbance - Hamstring contractures - Hyperreflexia - Intellectual disability - Progressive 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.
Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. 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 is found to have 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. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time.  HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy.
What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. 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 skin - Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Distal sensory loss of all modalities - Hyporeflexia - Osteomyelitis - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Pes cavus - Sensorineural hearing impairment - Skeletal muscle atrophy - 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.
How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. In rare cases, a mutation that causes HSN1 occurs sporadically as a new (de novo) mutation in a person without an affected parent.
Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified HSN1C is caused by mutations in the SPTLC2 gene HSN1D is caused by mutations in the ATL1 gene (the same gene is associated with early-onset hereditary spastic paraplegia 3A) HSN1E is caused by mutations in the DNMT1 gene The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. 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. Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1. If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms.
What are the signs and symptoms of Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. 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 electroretinogram 90% Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia affecting the eye 90% Myopia 90% Optic atrophy 90% Visual impairment 90% Nystagmus 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cystoid macular degeneration - Glaucoma - Macular atrophy - Microphthalmia - Nyctalopia - Pigmentary retinal degeneration - Retinal degeneration - Slitlike anterior chamber angles in children - 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 Sjogren-Larsson-like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sjogren-Larsson-like 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 eye - Abnormality of the nervous system - Autosomal recessive inheritance - Congenital ichthyosiform erythroderma - Hyperkeratosis - 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.