bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Permanent neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. 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 ear - Abnormality of the immune system - Anteverted nares - Autosomal dominant inheritance - Beta-cell dysfunction - Clinodactyly - Diabetes mellitus - Downturned corners of mouth - Hyperglycemia - Hypsarrhythmia - Intrauterine growth retardation - Ketoacidosis - Limb joint contracture - Long philtrum - Motor delay - Muscle weakness - Muscular hypotonia of the trunk - Peripheral neuropathy - Prominent metopic ridge - Ptosis - Radial deviation of finger - Seizures - Small for gestational age - 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.
Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).
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.
How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal body temperature, they should frequently drink cool liquids and wear cool clothing. Dental defects can be managed with dentures and implants. Artificial tears are used to prevent cornea damage for patients that do not produce enough tears. Surgery to repair a cleft palate is also helpful in improving speech and facial deformities.
What are the signs and symptoms of Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech. 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) Anterior scalloping of vertebral bodies - Anteverted nares - Autosomal dominant inheritance - Blepharophimosis - Brachydactyly syndrome - Carpal bone hypoplasia - Coarse facial features - Cubitus valgus - Cuboid-shaped vertebral bodies - Curly eyelashes - Delayed epiphyseal ossification - Depressed nasal bridge - Flexion contracture - High pitched voice - Hoarse voice - Hypoplasia of midface - Hypoplastic iliac wing - Long philtrum - Malar flattening - Microtia - Pectus excavatum - Platyspondyly - Postnatal growth retardation - Restrictive lung disease - Rhizo-meso-acromelic limb shortening - Round face - Short foot - Short long bone - Short metacarpal - Short neck - Short palm - Short phalanx of finger - Short toe - Single interphalangeal crease of fifth finger - Small epiphyses - Spondyloepiphyseal dysplasia - Tapered metacarpals - Tapered phalanx of finger - Thick lower lip vermilion - Thick upper lip vermilion - Thoracic hypoplasia - Upslanted palpebral fissure - Wide mouth - 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 Dystonia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 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) Gait disturbance 90% Hypertonia 90% Abnormality of the voice 50% Incomplete penetrance 30% Abnormal posturing - Autosomal dominant inheritance - Blepharospasm - Dysarthria - Hyperlordosis - Kyphosis - Muscular hypotonia - Scoliosis - Torsion dystonia - Torticollis - Tremor - Writer's cramp - 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 Nasopharyngeal carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasopharyngeal carcinoma. 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) Neoplasm - 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.
Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if their growth affects the neighboring areas of the brain. Though most meningiomas grow slowly, there is no way to predict the rate of growth for a particular meningioma or to know how long a specific meningioma was growing before it was diagnosed. Signs and symptoms can vary but may include seizures, headaches, weakness in the arms and legs, and vision loss. Sometimes memory loss, carelessness, and unsteadiness are the only symptoms.
How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Radiation may be used if the meningioma cannot be operated on or if the meningioma is only partially removed by surgery. Radiation may also be used in cases of malignant, atypical, or recurrent tumors. Other treatments that have been tried or are being explored include hydroxyurea, epidermal growth factor receptor inhibitors, platelet-derived growth factor receptor inhibitors, vascular endothelial growth factor inhibitors, immunotherapy to stimulate the immune system, and somatostatin analogs which prevent the release of growth hormones.
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy 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.
What are the signs and symptoms of Multiple pterygium syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple pterygium 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) Abnormal cervical curvature - Abnormal facial shape - Amyoplasia - Cleft palate - Cleft upper lip - Cystic hygroma - Depressed nasal ridge - Edema - Epicanthus - Fetal akinesia sequence - Flexion contracture - Hypertelorism - Hypoplastic heart - Increased susceptibility to fractures - Intrauterine growth retardation - Joint dislocation - Low-set ears - Malignant hyperthermia - Multiple pterygia - Polyhydramnios - Pulmonary hypoplasia - Short finger - Thin ribs - Vertebral fusion - 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.
What are the signs and symptoms of De Sanctis-Cacchione syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Sanctis-Cacchione 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) Areflexia - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Choreoathetosis - Conjunctivitis - Cutaneous photosensitivity - Defective DNA repair after ultraviolet radiation damage - Dermal atrophy - Ectropion - Entropion - Gonadal hypoplasia - Hyporeflexia - Intellectual disability - Keratitis - Mental deterioration - Microcephaly - Olivopontocerebellar atrophy - Photophobia - Poikiloderma - Sensorineural hearing impairment - Severe short stature - Spasticity - Telangiectasia - 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 Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of the eye - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Growth delay - Hypoalbuminemia - Hypobetalipoproteinemia - Hypocholesterolemia - Infantile onset - Intellectual disability - Malnutrition - Steatorrhea - Vomiting - 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 Meckel syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Meckel syndrome type 3. 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 5% Dandy-Walker malformation 5% Hydrocephalus 5% Autosomal recessive inheritance - Bile duct proliferation - Encephalocele - Hepatic fibrosis - Multicystic kidney dysplasia - Polydactyly - Postaxial hand polydactyly - 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.
Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. Guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the GAMT gene and is inherited in an autosomal recessive manner. Treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.
What are the signs and symptoms of Guanidinoacetate methyltransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Guanidinoacetate methyltransferase 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) Ataxia - Autosomal recessive inheritance - Delayed speech and language development - Hyperreflexia - Hypertonia - Infantile muscular hypotonia - Intellectual disability - Myoclonus - Progressive extrapyramidal movement disorder - Seizures - 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.
Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Several authors published descriptions of a more global autonomic disturbance associated with the original three characteristics, leading one author to suggest the name 4A syndrome (adrenal insufficiency, achalasia, alacrima, autonomic abnormalities). Specific autonomic disturbances described in this syndrome include abnormal pupillary reflexes, poor heart rate variability, and orthostatic hypotension. Affected individuals may also have developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern. Alacrimia is treated with artificial tears while achalasia may need surgery with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.
What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus of the cell. Mutations in the AAAS gene prevent this protein from reaching its proper location in the cell, which may disrupt the movement of molecules. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome. Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene; in these individuals, the genetic cause of the disorder is unknown.