bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Ruvalcaba syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ruvalcaba 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 metacarpal bones 90% Abnormality of the teeth 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Convex nasal ridge 90% Kyphosis 90% Microcephaly 90% Micromelia 90% Narrow mouth 90% Proximal placement of thumb 90% Ptosis 90% Short nose 90% Short palm 90% Synostosis of carpal bones 90% Thin vermilion border 90% Abnormality of the elbow 50% Abnormality of vertebral epiphysis morphology 50% Cryptorchidism 50% High forehead 50% Intrauterine growth retardation 50% Narrow chest 50% Pectus carinatum 50% Scoliosis 50% Abnormal electroretinogram 7.5% Abnormal localization of kidney 7.5% Abnormality of visual evoked potentials 7.5% Clinodactyly of the 5th finger 7.5% Hematuria 7.5% Hernia of the abdominal wall 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Seizures 7.5% Abnormality of the breast - Autosomal dominant inheritance - Delayed puberty - Dental crowding - Inguinal hernia - Intellectual disability - Limited elbow extension - Narrow nose - Retinal dystrophy - Short foot - Short metacarpal - Short metatarsal - Short phalanx of finger - Short stature - Small hand - Underdeveloped nasal alae - 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.
Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes. Treatment for FIHP often includes surgical removal of the affected gland(s).
What are the signs and symptoms of Familial isolated hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial isolated hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypercalcemia - Primary hyperparathyroidism - 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 familial isolated hyperparathyroidism inherited? Familial isolated hyperparathyroidism (FIHP) is typically 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 or symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene from the affected parent.
How is familial isolated hyperparathyroidism diagnosed? The diagnosis of familial isolated hyperparathyroidism (FIHP) is primarily a diagnosis of exclusion. This means that it is diagnosed when no symptoms or genetic features of other forms of familial hyperparathyroidism are present. FIHP may be the only feature of another condition that is not manifesting completely, or it may be a distinct condition due to mutations in genes that have not yet been identified. Clinical exams, laboratory tests, and histological (microscopic) findings are needed before making a diagnosis of FIHP. A diagnosis of FIHP may include the findings of: hypercalcemia (defined as a serum calcium level greater than 10.5 mg/dL) inappropriately high parathyroid hormone (PTH) concentrations parathyroid adenomas exclusion of multiple endocrine neoplasia type 1 (MEN 1) and hyperparathyroidism-jaw tumor syndrome (HPT-JT) In the majority of people with FIHP, genetic mutations are not found. However, in some people, mutations in the MEN1, CASR, and CDC73 (HRPT2) genes have been reported. At this time, no gene has been associated exclusively with FIHP.
Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms.
What are the signs and symptoms of Biotin-thiamine-responsive basal ganglia disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Biotin-thiamine-responsive basal ganglia 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 the basal ganglia - Autosomal recessive inheritance - Babinski sign - Coma - Confusion - Craniofacial dystonia - Dysarthria - Dysphagia - Encephalopathy - External ophthalmoplegia - Fever - Gait ataxia - Inability to walk - Irritability - Juvenile onset - Morphological abnormality of the pyramidal tract - Muscular hypotonia of the trunk - Mutism - Nystagmus - Paraparesis - Ptosis - Rigidity - 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.
What are the signs and symptoms of Cardioskeletal syndrome Kuwaiti type? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioskeletal syndrome Kuwaiti type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the metaphyses 90% Accelerated skeletal maturation 90% Atria septal defect 90% Limb undergrowth 90% Narrow chest 90% Short stature 90% Ventricular septal defect 90% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the ribs 50% Abnormality of the tricuspid valve 50% Kyphosis 50% Abnormality of cardiovascular system morphology - Autosomal recessive inheritance - Skeletal dysplasia - 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 Glaucoma sleep apnea? The Human Phenotype Ontology provides the following list of signs and symptoms for Glaucoma sleep apnea. 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) Glaucoma 90% Respiratory insufficiency 90% Sleep apnea - 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.
Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. In people with LCH, these cells multiply excessively and build up in certain areas of the body, causing tumors called granulomas to form. The symptoms vary among affected individuals, and the cause of LCH is unknown. In most cases, this condition is not life-threatening. Some people do experience life-long problems associated with LCH.
What are the signs and symptoms of Langerhans cell histiocytosis? Symptoms of Langerhans cell histiocytosis (LCH) can vary greatly from person to person depending on how much of the body is involved and what part(s) are affected. The disease can affect virtually every organ, including skin, bones, lymph nodes, bone marrow, liver, spleen, lungs, gastrointestinal tract, thymus, central nervous system, and hormone glands. The symptoms may range from localized bone lesions or skin disease to multiple organ involvement and severe dysfunction. Below are the organs that may be affected as well as the symptoms that might be observed: Skin - Red, scaly papules in areas where opposing skin surfaces touch or rub (e.g. skin folds) are commonly seen in LCH. Infants with the skin presentation on the scalp are often misdiagnosed with cradle cap. The skin symptoms usually improve without treatment. Bone - Lesions that cause bone destruction are common, with the skull, lower limbs, ribs, pelvis, and vertebrae usually being affected. Symptoms may include pain, swelling, limited motion, and inability to bear weight. Lymph node - Lymph node involvement may be limited or associated with a skin or bone lesion or disseminated disease. Although any of the lymph nodes may be affected, the cervical lymph nodes are where the disease commonly occurs. Individuals usually only present with pain of the lymph node affected. If only one lymph node is affected, prognosis is normally good and treatment is unnecessary. Liver - Liver involvement at the time of diagnosis is generally associated with more severe disease. Symptoms may include ascites, jaundice, low levels of protein, and prolonged clotting time. Central nervous system (CNS) and hormone - CNS involvement is rare and may be devastating. The most common result of CNS involvement is the altering of hormonal function, with some individuals developing diabetes insipidus. More detailed information about the symptoms of LCH can be accessed through the Histiocytosis Association's website.
How is Langerhans cell histiocytosis diagnosed? Testing for Langerhans cell histiocytosis (LCH) may include bronchoscopy with biopsy, x-ray, skin biopsy, bone marrow biopsy, complete blood count, and pulmonary function tests. Because LCH is sometimes associated with cancer, CT scans and a biopsy may be done to rule out possible cancer. Additional information about the diagnosis of LCH can be viewed on the Histiocytosis Association's website.
How might Langerhans cell histiocytosis be treated? Treatment for Langerhans cell histiocytosis (LCH) depends upon the individual patient; it may differ depending on the type and severity of the condition as well as what part(s) of the body are affected. In some cases, the disease will regress without any treatment at all. In other cases, limited surgery and small doses of radiation therapy or chemotherapy will be needed, depending on the extent of the disease. Treatment is planned after complete evaluation of the patient, with the goal of using as little treatment as possible to keep the disease under control. Detailed information about the treatment of LCH can be viewed on Medscape Reference's Web site.
Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association. Surgery to repair the trachea may be attempted; however, the long-term outlook is generally poor in most cases.
What are the signs and symptoms of Tracheal agenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheal agenesis. 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 cardiac septa 90% Aplasia/Hypoplasia of the lungs 90% Polyhydramnios 90% Respiratory insufficiency 90% Tracheal stenosis 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.
Angelman syndrome is a genetic disorder that primarily affects the nervous system. Characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. Individuals with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Many of the characteristic features of Angelman syndrome result from the loss of function of a gene called UBE3A. Most cases of Angelman syndrome are not inherited, although in rare cases a genetic change responsible for Angelman syndrome can be inherited from a parent. Treatment is aimed at addressing each individual's symptoms and may include antiepileptics for seizures; physical, occupational, and speech therapy; and special education services.
What are the signs and symptoms of Angelman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Angelman 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 tongue 90% Behavioral abnormality 90% Broad-based gait 90% Cerebral cortical atrophy 90% Clumsiness 90% Cognitive impairment 90% EEG abnormality 90% Incoordination 90% Mandibular prognathia 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Sporadic 75% Abnormality of the teeth 50% Hyperreflexia 50% Malar flattening 50% Wide mouth 50% Hernia of the abdominal wall 7.5% Strabismus 7.5% Absent speech - Autosomal dominant inheritance - Blue irides - Brachycephaly - Constipation - Deeply set eye - Drooling - Exotropia - Fair hair - Feeding difficulties in infancy - Flat occiput - Hyperactivity - Hypopigmentation of the skin - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Limb tremor - Macroglossia - Motor delay - Myopia - Nystagmus - Obesity - Paroxysmal bursts of laughter - Progressive gait ataxia - Protruding tongue - Scoliosis - Sleep-wake cycle disturbance - Widely spaced teeth - 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 Angelman syndrome? Angelman syndrome is caused by a loss of function of a gene called UBE3A on chromosome 15. The exact mechanism that causes this loss of function is complex. People normally inherit one copy of the UBE3A gene from each parent. Both copies of this gene are turned on (active) in many of the body's tissues. In certain areas of the brain, however, only the copy inherited from a person's mother is active. This parent-specific gene activation is known as genomic imprinting. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain. Several different genetic mechanisms can inactivate or delete the maternal copy of the UBE3A gene. Most cases of Angelman syndrome occur when a segment of the maternal chromosome 15 containing this gene is deleted. In other cases, Angelman syndrome is caused by a mutation in the maternal copy of the UBE3A gene. In a small percentage of cases, a person with Angelman syndrome inherits two copies of chromosome 15 from his or her father, instead of one copy from each parent. This is called paternal uniparental disomy. Rarely, Angelman syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect in the region of DNA that controls activation of the UBE3A gene. These genetic changes can abnormally turn off (inactivate) UBE3A or other genes on the maternal copy of chromosome 15. The cause of Angelman syndrome is unknown in 10 to 15 percent of affected individuals. Changes involving other genes or chromosomes may be responsible for the condition in these individuals.
How might Angelman syndrome be inherited? Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. In these instances, people typically have no history of the disorder in their family. Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby region of DNA that controls gene activation to be passed from one generation to the next.