falan42/medcuad_data huggingface dataset:
Topic: Immunotactoid or fibrillary glomerulopathy
Question: What is (are) Immunotactoid or fibrillary glomerulopathy ?
Answer: Immunotactoid or fibrillary glomerulopathy is a term that includes two conditions: immunotactoid glomerulopathy and fibrillary glomerulonephritis, which are uncommon causes of glomerular disease. Most experts feel that fibrillary glomerulonephritis and immunotactoid glomerulopathy are separate disorders but they have many similarities and some experts group these disorders together. Fibrillary glomerulonephritis and immunotactoid glomerulopathy can be distinguished from each other by electron microscopy; the 'fibrils' that characterize fibrillary glomerulonephritis are smaller and  randomly oriented as opposed to the larger and organized fibrils of immunotactoid glomerulopathy which also have microtubule formations.  Both disorders probably result from deposits derived from immunoglobulins but in most cases the cause is idiopathic (unknown). The signs and symptoms are similar in both diseases and may include blood (hematuria) and protein (proteinuria) in the urine, kidney insufficiency and high blood pressure. Fibrillary glomeurlonephritis is much more common than immunotactoid glomerulopathy.  Both fibrillary glomerulonephritis and immunotactoid glomerulopathy have been associated with hepatitis C virus infection and with malignancy and autoimmune disease, but immunotactoid glomerulopathy patients have a greater predisposition to chronic lymphocytic leukemia and B cell lymphomas. All patients should be screened for these conditions. It is also important to rule out another disease known as amyloidosis. When the fibrils are stained with an acid dye known as "Congo red" the results are negative. In amyloidosis the results are positive because the dye is absorbed by the amyloids. Treatment is generally determined by the severity of the kidney problems.
(Source: GARD)
Topic: Congenital hepatic fibrosis
Question: What is (are) Congenital hepatic fibrosis ?
Answer: Congenital hepatic fibrosis is a rare disease of the liver that is present at birth. Symptoms include the following: a large liver, a large spleen, gastrointestinal bleeding caused by varices, increased pressure in the blood vessels that carry blood to the liver (portal hypertension), and scar tissue in the liver (fibrosis). Isolated congenital hepatic fibrosis is rare; it usually occurs as part of a syndrome that also affects the kidneys. There is no treatment to correct the fibrosis or the specific abnormalities in the blood vessels, but complications such as bleeding and infection can be treated.
(Source: GARD)
Topic: Congenital hepatic fibrosis
Question: What causes Congenital hepatic fibrosis ?
Answer: What causes congenital hepatic fibrosis? Isolated congenital hepatic fibrosis is rare. Congenital hepatic fibrosis is usually associated with conditions known as hepatorenal fibrocystic diseases (FCD) that can also affect the kidneys. Examples of FCDs include polycystic kidney disease (PKD) and nephronophthisis (NPHP). FCDs can be inherited as autosomal recessive , autosomal dominant , or X-linked recessive disorders.
(Source: GARD)
Topic: TAR syndrome
Question: What is (are) TAR syndrome ?
Answer: TAR syndrome is characterized by the absence of a bone called the radius in each forearm, short stature, and thrombocytopenia. The thrombocytopenia often appears first in infancy but becomes less severe or returns to normal over time. Infants and young children are particularly vulnerable to episodes of severe bleeding which may occur in the brain and other organs. Children who survive this period and do not have damaging bleeding in the brain usually have a normal life expectancy and normal intellectual development. Other signs and symptoms vary but may include heart defects, kidney defects, and other skeletal abnormalities. About half of people with TAR syndrome also have difficulty digesting cow's milk. TAR syndrome is thought be caused by a deletion of genes on chromosome 1q21.1 in concert with another genetic change that has yet to be identified. Click here to see a diagram of chromosome 1.
(Source: GARD)
Topic: TAR syndrome
Question: What are the symptoms of TAR syndrome ?
Answer: What are the signs and symptoms of TAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for TAR 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) Bilateral radial aplasia 100% Abnormality of coagulation 90% Aplasia/Hypoplasia of the ulna 90% Thrombocytopenia 90% Clinodactyly of the 5th finger 75% Cow milk allergy 75% Coxa valga 75% Eosinophilia 75% Genu varum 75% Hip dislocation 75% Patellar aplasia 75% Abnormality of the intestine 50% Adducted thumb 50% Aplasia/hypoplasia of the humerus 50% Broad forehead 50% Broad thumb 50% High forehead 50% Low-set, posteriorly rotated ears 50% Patellar dislocation 50% Death in infancy 40% Anemia 33% Abnormal localization of kidney 7.5% Abnormality of the cardiac septa 7.5% Abnormality of the shoulder 7.5% Carpal bone hypoplasia 7.5% Cavum septum pellucidum 7.5% Cerebellar hypoplasia 7.5% Cleft palate 7.5% Delayed CNS myelination 7.5% Edema of the dorsum of feet 7.5% Edema of the dorsum of hands 7.5% Finger syndactyly 7.5% Hepatosplenomegaly 7.5% Lateral clavicle hook 7.5% Malar flattening 7.5% Nevus flammeus of the forehead 7.5% Phocomelia 7.5% Ptosis 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Short phalanx of finger 7.5% Strabismus 7.5% Talipes equinovarus 7.5% Tetralogy of Fallot 7.5% Tibial torsion 7.5% Short stature 7% Aplasia of the uterus 5% Axial malrotation of the kidney 5% Cervical ribs 5% Coarctation of aorta 5% Fibular aplasia 5% Fused cervical vertebrae 5% Anteverted nares - Atria septal defect - Autosomal recessive inheritance - Brachycephaly - Carpal synostosis - Decreased antibody level in blood - Horseshoe kidney - Meckel diverticulum - Motor delay - Pancreatic cysts - Seborrheic dermatitis - Seizures - Shoulder muscle hypoplasia - Spina bifida - Ventricular septal defect - 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.
(Source: GARD)
Topic: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Question: What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?
Answer: What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 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 adipose tissue 90% Abnormality of epiphysis morphology 90% Arthralgia 90% Behavioral abnormality 90% Bone cyst 90% Bone pain 90% Cerebral cortical atrophy 90% Developmental regression 90% Limitation of joint mobility 90% Memory impairment 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Ventriculomegaly 90% Agnosia 50% Cerebral calcification 50% Chorea 50% Hypertonia 50% Neurological speech impairment 50% Oculomotor apraxia 50% Seizures 50% Abnormality of the abdominal organs 7.5% Acute leukemia 7.5% Hydrocephalus 7.5% Abnormal upper motor neuron morphology - Abnormality of the foot - Abnormality of the hand - Aggressive behavior - Apraxia - Autosomal recessive inheritance - Axonal loss - Babinski sign - Basal ganglia calcification - Caudate atrophy - Cerebral atrophy - Disinhibition - EEG abnormality - Frontal lobe dementia - Gait disturbance - Gliosis - Hypoplasia of the corpus callosum - Lack of insight - Leukoencephalopathy - Myoclonus - Pathologic fracture - Peripheral demyelination - Personality changes - Primitive reflexes (palmomental, snout, glabellar) - Spasticity - Urinary incontinence - 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.
(Source: GARD)
Topic: Imerslund-Grasbeck syndrome
Question: What is (are) Imerslund-Grasbeck syndrome ?
Answer: Imerslund-Grasbeck syndrome (IGS) is a rare condition characterized by vitamin B12 deficiency, often causing megaloblastic anemia. IGS usually appears in childhood. Other features may include failure to thrive, infections, and neurological damage. Mild proteinuria (with no signs of kidney disease) is present in about half of affected individuals. IGS is caused by mutations in either the CUBN or AMN gene and is inherited in an autosomal recessive manner. Treatment includes life-long vitamin B12 injections, with which affected individuals can stay healthy for decades.
(Source: GARD)
Topic: Imerslund-Grasbeck syndrome
Question: What are the symptoms of Imerslund-Grasbeck syndrome ?
Answer: What are the signs and symptoms of Imerslund-Grasbeck syndrome? Affected individuals often first experience non-specific health problems, such as failure to thrive and grow, recurrent gastrointestinal or respiratory infections, pallor and fatigue. Individuals often have anemia, and about half of affected individuals also have mild proteinuria but no signs of kidney disease. Individuals may also have mild neurological damage. Congenital (present at birth) abnormalities of the urinary tract were present in some of the original reported cases. The age at diagnosis is usually anywhere from a few months of age to about 14 years of age. The Human Phenotype Ontology provides the following list of signs and symptoms for Imerslund-Grasbeck 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) Autosomal recessive inheritance - Childhood onset - Confusion - Dementia - Malabsorption of Vitamin B12 - Megaloblastic anemia - Paresthesia - Proteinuria - Sensory 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.
(Source: GARD)
Topic: Imerslund-Grasbeck syndrome
Question: How to diagnose Imerslund-Grasbeck syndrome ?
Answer: How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.
(Source: GARD)
Topic: Leprechaunism
Question: What is (are) Leprechaunism ?
Answer: Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner.
(Source: GARD)
Topic: Leprechaunism
Question: What are the symptoms of Leprechaunism ?
Answer: What are the signs and symptoms of Leprechaunism? The Human Phenotype Ontology provides the following list of signs and symptoms for Leprechaunism. 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 90% Abnormality of the nasal alae 90% Abnormality of the palate 90% Cognitive impairment 90% Decreased body weight 90% Hearing abnormality 90% Hyperinsulinemia 90% Hypertelorism 90% Hypoglycemia 90% Intrauterine growth retardation 90% Long penis 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Proptosis 90% Recurrent respiratory infections 90% Short stature 90% Skeletal muscle atrophy 90% Thick lower lip vermilion 90% Thickened nuchal skin fold 90% Type II diabetes mellitus 90% Abnormality of the liver 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Female pseudohermaphroditism 50% Gynecomastia 50% Hypertrichosis 50% Lipoatrophy 50% Umbilical hernia 50% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cryptorchidism 7.5% Microcephaly 7.5% Abdominal distention - Abnormality of the abdominal wall - Acanthosis nigricans - Adipose tissue loss - Autosomal recessive inheritance - Cholestasis - Clitoromegaly - Elfin facies - Fasting hypoglycemia - Gingival overgrowth - Hepatic fibrosis - Hyperglycemia - Hyperkeratosis - Hypermelanotic macule - Large hands - Long foot - Low-set ears - Nail dysplasia - Ovarian cyst - Pancreatic islet-cell hyperplasia - Postnatal growth retardation - Postprandial hyperglycemia - Precocious puberty - Prominent nipples - Recurrent infections - Severe failure to thrive - Small face - Wide mouth - 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.
(Source: GARD)
Topic: Secondary adrenal insufficiency
Question: What is (are) Secondary adrenal insufficiency ?
Answer: Adrenal insufficiency is an endocrine disorder that occurs when the adrenal glands do not produce enough of certain hormones. Secondary adrenal insufficiency occurs when the pituitary gland (a pea-sized gland at the base of the brain) fails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. The lack of these hormones in the body can be caused by reduction or cessation of corticosteroid medication, the surgical removal of pituitary tumors, or changes in the pituitary gland. Symptoms of secondary adrenal insufficiency may include severe fatigue, loss of appetite, weight loss, nausea, vomiting, diarrhea, muscle weakness, irritability, and depression. Treatment includes replacing the hormones that the adrenal glands are not making. The dose of each medication is adjusted to meet the needs of each affected individual.
(Source: GARD)
Topic: Multiple epiphyseal dysplasia
Question: What is (are) Multiple epiphyseal dysplasia ?
Answer: Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.
(Source: GARD)
Topic: Multiple epiphyseal dysplasia
Question: Is Multiple epiphyseal dysplasia inherited ?
Answer: How is multiple epiphyseal dysplasia inherited? Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mutation may be inherited from a parent or can occur for the first time in the affected person. Each child of a person with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutation. More rarely, MED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms and are unaffected. When two carriers for the same condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% to be both unaffected and not a carrier.
(Source: GARD)
Topic: Subacute cerebellar degeneration
Question: What is (are) Subacute cerebellar degeneration ?
Answer: Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.
(Source: GARD)
Topic: Subacute cerebellar degeneration
Question: What are the symptoms of Subacute cerebellar degeneration ?
Answer: What are the signs and symptoms of subacute cerebellar degeneration? Signs and symptoms of subacute cerebellar degeneration, include ataxia, speech and swallowing problems, dementia (in about half of people with this condition), and difficulty walking. People with subacute cerebellar degeneration due to thiamine deficiency may also experience quick involuntary movements of the eyeball (nystagmus), double-vision, dizziness, and paralysis of the eye muscles. In paraneoplastic cerebellar degeneration, dizziness, nausea, and vomiting may precede the neurological symptoms. Paraneoplastic cerebellar degeneration may occur in association with Lambert Eaton myasthenic syndrome or encephalomyelitis.
(Source: GARD)
Topic: Subacute cerebellar degeneration
Question: What causes Subacute cerebellar degeneration ?
Answer: What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page. http://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1
(Source: GARD)
Topic: Ankylosis of teeth
Question: What are the symptoms of Ankylosis of teeth ?
Answer: What are the signs and symptoms of Ankylosis of teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosis of teeth. 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) Reduced number of teeth 90% Abnormality of dental enamel 50% Clinodactyly of the 5th finger 7.5% Mandibular prognathia 7.5% Abnormality of the teeth - Autosomal dominant 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.
(Source: GARD)