Druvith/medqa1 huggingface dataset:
Question:  What causes Immunodeficiency with hyper IgM type 1 ?
Answer: What causes hyper IgM syndrome? A flawed gene (or genes) in T-cells (a type of white blood cell that is part of the immune system and helps the body fight diseases or harmful substances) is responsible for hyper IgM syndrome. The faulty T-cells do not give B-cells a signal they need to switch from making IgM to IgA and IgG. Most cases (approximately 70%) of hyper-IgM syndrome are linked to a recessive mutation on the X chromosome. These cases are inherited as an X-linked recessive genetic trait. Because males do not have a second, healthy, X-chromosome to offset the disease, boys far out number girls with this disease. A small number of cases of hyper IgM syndrome have been attributed to autosomal recessive and autosomal dominant genetic inheritance. In addition, a rare acquired form of the disorder has been described in the medical literature.
Question:  What are the treatments for Immunodeficiency with hyper IgM type 1 ?
Answer: How might hyper IgM syndrome be treated? The cornerstone of treatment for individuals with hyper IgM syndrome is regular injections of intravenous immunogloblulin (IVIG). This treatment not only supplies missing IgG antibodies, but also prompts a drop in IgM antibodies. Patients with neutropenia can take granulocyte colony-stimulating factor (G-CSF). Antibiotics may also be prescribed to prevent the respiratory infection, pneumocystis carinii pneumonia. Most children with hyper-IgM syndrome respond well to treatment, become symptom-free and resume normal growth.
Question:  What are the symptoms of Verloove Vanhorick Brubakk syndrome ?
Answer: What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk 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) Abnormal form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the sacrum 90% Atresia of the external auditory canal 90% Cleft palate 90% Cryptorchidism 90% Limb undergrowth 90% Low-set, posteriorly rotated ears 90% Non-midline cleft lip 90% Tarsal synostosis 90% Abnormal localization of kidney 50% Finger syndactyly 50% Growth abnormality - Syndactyly - Truncus arteriosus - 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.
Question:  What are the symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related ?
Answer: What are the signs and symptoms of Spondyloepimetaphyseal dysplasia Matrilin-3 related? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia Matrilin-3 related. 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 - Bowing of the legs - Disproportionate short-limb short stature - Dysplastic iliac wings - Flat acetabular roof - Hypoplastic pubic bone - Irregular epiphyses - Limited elbow extension - Lumbar hyperlordosis - Metaphyseal spurs - Metaphyseal widening - Micromelia - Narrow iliac wings - Ovoid vertebral bodies - Platyspondyly - Posterior rib cupping - Short long bone - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thoracic hypoplasia - Waddling gait - 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.
Question:  What is (are) Alport syndrome ?
Answer: Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes. Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation.
Question:  What are the symptoms of Alport syndrome ?
Answer: What are the signs and symptoms of Alport syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alport 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) Glomerulopathy 90% Retinopathy 90% Sensorineural hearing impairment 90% Aplasia/Hypoplasia of the lens 50% Aseptic leukocyturia 50% Cataract 50% Dry skin 50% Edema of the lower limbs 50% Hypertension 50% Migraine 50% Nephrotic syndrome 50% Pallor 50% Periorbital edema 50% Proteinuria 50% Renal insufficiency 50% Respiratory insufficiency 50% Tinnitus 50% Weight loss 50% Abdominal situs inversus 7.5% Abnormality of the macula 7.5% Corneal dystrophy 7.5% Feeding difficulties in infancy 7.5% Myopia 7.5% Nausea and vomiting 7.5% Neoplasm of the colon 7.5% Photophobia 7.5% Sarcoma 7.5% Thrombocytopenia 7.5% Uterine neoplasm 7.5% Anterior lenticonus - Congenital cataract - Corneal erosion - Diffuse glomerular basement membrane lamellation - Diffuse leiomyomatosis - Heterogeneous - Hypoparathyroidism - Ichthyosis - Microscopic hematuria - Nephritis - Progressive - Stage 5 chronic kidney disease - X-linked 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.
Question:  What causes Alport syndrome ?
Answer: What causes Alport syndrome? Alport syndrome may be caused by mutations in either the COL4A3, COL4A4, or COL4A5 genes. These genes each provide instructions for making one component of a protein called type IV collagen, which plays an important role in the glomeruli of the kidneys. Glomeruli are clusters of specialized blood vessels that remove water and waste products from the blood and create urine. Mutations in the genes mentioned above result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood. As a result, blood and protein pass into the urine. Over time, the kidneys become scarred and many people with Alport syndrome develop kidney failure. Type IV collagen is also an important component of the organ of Corti, an inner ear structure that transforms sound waves into nerve impulses for the brain. Alterations in type IV collagen may result in abnormal inner ear function, which can lead to hearing loss. In addition, type IV collagen plays a role in the eye, where it helps maintain the shape of the lens and the normal color of the retina. Mutations found in Alport syndrome may affect the shape of the lenses and the color of the retina.
Question:  Is Alport syndrome inherited ?
Answer: How is Alport syndrome inherited? Alport syndrome can have different inheritance patterns. About 80 percent of cases are caused by mutations in the COL4A5 gene and are inherited in an X-linked recessive pattern. This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in only one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question:  What are the treatments for Alport syndrome ?
Answer: How might Alport syndrome be treated? Although there is no one specific treatment for Alport syndrome, the goals of treatment include monitoring and controlling progression of the disease and treating the symptoms. Strict control of blood pressure is very important. Research suggests that ACE inhibitors can help reduce proteinuira and the progression of kidney disease. However, treatment of chronic kidney failure often becomes necessary. This can include dietary modifications, fluid restriction, and other treatments. Ultimately, chronic kidney failure progresses to end-stage kidney disease, requiring dialysis or transplantation. Kidney transplantation in patients with Alport syndrome is usually successful, but some studies have reported that about 10% of transplanted patients develop nephritis in the graft. Other aspects of the condition are addressed as needed. For instance, surgical repair of cataracts (cataract extraction), or repair of the anterior lenticonus in the eye may be needed. Loss of hearing is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language may be of some benefit. Hearing aids are helpful. Young men with Alport syndrome should use hearing protection in noisy environments. Genetic counseling may be recommended because of the inherited pattern of the disorder. Additional information related to the treatment of Alport syndrome can be accessed through GeneReviews and eMedicine.
Question:  What is (are) Temporomandibular ankylosis ?
Answer: Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically.
Question:  What are the symptoms of Bartter syndrome antenatal type 2 ?
Answer: What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal type 2. 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) Hypomagnesemia 7.5% Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hyposthenuria - Impaired platelet aggregation - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Triangular face - 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.
Question:  What is (are) Dihydropteridine reductase deficiency ?
Answer: Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. If little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. This results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. DHPR deficiency is caused by mutations in the QDPR gene. It is inherited in an autosomal recessive manner. Treatment should be started as soon as possible and includes BH4 supplementation usually combined with a diet without phenylalanine, folate supplementation, and specific medications to restore the levels of neurotransmitters in the brain.
Question:  What are the symptoms of Dihydropteridine reductase deficiency ?
Answer: What are the signs and symptoms of Dihydropteridine reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropteridine reductase 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) Cognitive impairment 90% Microcephaly 90% Autosomal recessive inheritance - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperphenylalaninemia - Hypertonia - Infantile onset - Intellectual disability - Irritability - Muscular hypotonia - Myoclonus - Progressive neurologic deterioration - Seizures - Tremor - Variable expressivity - 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.
Question:  What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ?
Answer: What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 2. 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) Autoimmune hemolytic anemia - Autosomal recessive inheritance - Episodic fever - Hypoplasia of the iris - Immunodeficiency - Lymphadenopathy - Muscular hypotonia - Myopathy - Recurrent bacterial infections - Thrombocytopenia - 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.
Question:  What is (are) Pectus carinatum ?
Answer: Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option.
Question:  What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D ?
Answer: What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type D? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type D. 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 - Autosomal dominant inheritance - Axonal degeneration/regeneration - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Hyporeflexia - Segmental peripheral demyelination/remyelination - Upper limb muscle weakness - 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.