sarnsrun/medquad huggingface dataset:
Topic: Common variable immunodeficiency
Question: What causes Common variable immunodeficiency ?
Answer: What causes common variable immunodeficiency (CVID)? Common variable immunodeficiency (CVID) is usually sporadic and thought to result from a combination of genetic and environmental factors. In most cases, the exact cause of CVID is unknown. Genetic factors associated with CVID include mutations in genes involved in the development and function of immune system cells (B cells) which help protect against infection. B cells make proteins called antibodies (also known as immunoglobulins), which attach to foreign agents and "mark" them to be destroyed. Mutations in genes associated with CVID result in B cells that don't make enough antibodies. This causes difficulty fighting infections, causing the signs and symptoms of CVID. Mutations in at least 10 genes have been associated with CVID. About 10% of affected people have mutations in the TNFRSF13B gene. However, not all people who inherit a mutation associated with CVID develop the disease. This is why additional genetic and/or environmental factors are probably needed for the disorder to occur. While CVID usually occurs in people with no family history of the condition, some cases are inherited in an autosomal dominant or autosomal recessive manner.
Source: GARD
Topic: Common variable immunodeficiency
Question: What are the treatments for Common variable immunodeficiency ?
Answer: How might common variable immunodeficiency be treated?  The main treatment for common variable immunodeficiency (CVID) is Ig replacement therapy, which stops the cycle of recurrent infections. Ig may be taken intravenously (through the vein) or subcutaneously (by injection). Adverse reactions to Ig must be monitored during therapy. Ig therapy is effective in most people, leading to less frequent infections and arthritic symptoms. However, gastrointestinal (digestive) symptoms have little improvement with IVIG. In some people wwith CVID and severe autoimmune disease, steroids or other immunosuppressive drugs in addition to Ig therapy may be needed. Detailed information about the management of CVID can be viewed on Medscape Reference's Web site.
Source: GARD
Topic: Mannosidosis, beta A, lysosomal
Question: What are the symptoms of Mannosidosis, beta A, lysosomal ?
Answer: What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. 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% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - 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: SLC4A1-associated distal renal tubular acidosis
Question: What are the symptoms of SLC4A1-associated distal renal tubular acidosis ?
Answer: What are the signs and symptoms of SLC4A1-associated distal renal tubular acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for SLC4A1-associated distal renal tubular acidosis. 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 - Autosomal recessive inheritance - Distal renal tubular acidosis - Failure to thrive - Hypocalcemia - Metabolic acidosis - Nephrocalcinosis - Osteomalacia - Pathologic fracture - Periodic hypokalemic paresis - Periodic paralysis - Postnatal growth retardation - Renal tubular acidosis - Rickets - 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: Familial hyperinsulinism
Question: What is (are) Familial hyperinsulinism ?
Answer: Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.
Source: GARD
Topic: Familial hyperinsulinism
Question: What are the symptoms of Familial hyperinsulinism ?
Answer: What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. 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 pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell hyperplasia - 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: Septo-optic dysplasia
Question: What is (are) Septo-optic dysplasia ?
Answer: Septo-optic dysplasia is a disorder of early brain development. The signs and symptoms vary from person to person; however, underdevelopment (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain, and pituitary hypoplasia are the characteristic findings. Recurring seizures, delayed development, and abnormal movements may be present in some people with septo-optic dysplasia. Although the exact cause of septo-optic dysplasia is unknown, it is believed that both genetic and environmental factors play a role. Viruses, medications, and blood flow disruption have all been suggested as possible environmental causes. Thus far, three genes (HESX1, OTX2, and SOX2) have been associated with septo-optic dysplasia. Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. Familial cases may follow an autosomal recessive or autosomal dominant pattern of inheritance.
Source: GARD
Topic: Septo-optic dysplasia
Question: What are the symptoms of Septo-optic dysplasia ?
Answer: What are the signs and symptoms of Septo-optic dysplasia? Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development. Seizures may also occur. In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth. Intellectual problems vary in severity among individuals. While some children with septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Septo-optic dysplasia. 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) Optic atrophy 90% Septo-optic dysplasia 90% Visual impairment 90% Anterior hypopituitarism 50% Aplasia/Hypoplasia of the corpus callosum 50% Cleft palate 50% Cryptorchidism 50% Hemiplegia/hemiparesis 50% Hypoplasia of penis 50% Nystagmus 50% Seizures 50% Short stature 50% Strabismus 50% Abnormal renal physiology 7.5% Abnormality of the sense of smell 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Autism 7.5% Cognitive impairment 7.5% Constipation 7.5% Diabetes insipidus 7.5% Dry skin 7.5% Hypohidrosis 7.5% Maternal diabetes 7.5% Obesity 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Tracheoesophageal fistula 7.5% Absent septum pellucidum - Agenesis of corpus callosum - Anterior pituitary hypoplasia - Autosomal dominant inheritance - Autosomal recessive inheritance - Growth hormone deficiency - Optic disc hypoplasia - Optic nerve hypoplasia - Phenotypic variability - Polydactyly - Short finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Septo-optic dysplasia
Question: What causes Septo-optic dysplasia ?
Answer: What causes septo-optic dysplasia? In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.
Source: GARD
Topic: Septo-optic dysplasia
Question: Is Septo-optic dysplasia inherited ?
Answer: Is septo-optic dysplasia inherited?
Source: GARD
Topic: Septo-optic dysplasia
Question: What are the treatments for Septo-optic dysplasia ?
Answer: Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required.
Source: GARD
Topic: Cerebellar ataxia and hypogonadotropic hypogonadism
Question: What are the symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism ?
Answer: What are the signs and symptoms of Cerebellar ataxia and hypogonadotropic hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebellar ataxia and hypogonadotropic hypogonadism. 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% Abnormality of the hypothalamus-pituitary axis 90% Decreased fertility 90% Gynecomastia 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Optic atrophy 90% Hemiplegia/hemiparesis 50% Muscular hypotonia 50% Abnormality of calvarial morphology 7.5% Behavioral abnormality 7.5% Clinodactyly of the 5th finger 7.5% Developmental regression 7.5% Short stature 7.5% Supernumerary nipple 7.5% Oligomenorrhea 5% Abnormality of metabolism/homeostasis - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Chorioretinal dystrophy - Dementia - Dysarthria - Hypogonadotrophic hypogonadism - Infertility - 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: Prader-Willi habitus, osteopenia, and camptodactyly
Question: What is (are) Prader-Willi habitus, osteopenia, and camptodactyly ?
Answer: Prader-Willi habitus, osteopenia, and camptodactyly syndrome is characterized by intellectual disability, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has only been described in two brothers and in one isolated case in a different family. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. It is similar to Prader-Willi syndrome, but the authors concluded that it is a different condition. The cause was unknown in the reported cases.
Source: GARD
Topic: Prader-Willi habitus, osteopenia, and camptodactyly
Question: What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ?
Answer: What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. 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% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - 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: Glanzmann thrombasthenia
Question: What is (are) Glanzmann thrombasthenia ?
Answer: Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. Prolonged untreated or unsuccessfully treated bleeding may be life threatening. This condition is inherited in an autosomal recessive fashion and is caused by mutations in either the ITGA2B or ITGB3 genes.
Source: GARD
Topic: Glanzmann thrombasthenia
Question: What are the symptoms of Glanzmann thrombasthenia ?
Answer: What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. 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 - Bruising susceptibility - Decreased platelet glycoprotein IIb-IIIa - Epistaxis - Gastrointestinal hemorrhage - Gingival bleeding - Impaired platelet aggregation - Intracranial hemorrhage - Menorrhagia - Prolonged bleeding time - Purpura - 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: Ectodermal dysplasia adrenal cyst
Question: What are the symptoms of Ectodermal dysplasia adrenal cyst ?
Answer: What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. 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 endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail 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.
Source: GARD