sarnsrun/medquad huggingface dataset:
Topic: Prader-Willi syndrome
Question: What are the treatments for Prader-Willi syndrome ?
Answer: How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. In general, management of this condition depends on the affected person's age and symptoms. When a diagnosis of PWS is made, several evaluations are needed to assess the extent of the condition. For example, newborns should be assessed for sucking problems; infants should be assessed for development; and young children should have a vision exam. All males should be evaluated for the presence of cryptorchidism. Other associated conditions for which evaluations may be recommended include hypothyroidism, scoliosis, behavioral problems, psychosis, and respiratory problems and sleep issues. In infants, special feeding techniques may be needed. Young children often need early intervention, including physical therapy for muscle strength and reaching physical milestones, and speech therapy for language issues. Cryptorchidism may resolve on its own but usually requires hormonal and/or surgical treatment. When excessive eating begins and weight percentiles increase, affected children should be on a program of a well-balanced diet, exercise, and close supervision with food. A consultation with a dietitian is recommended. Behavioral problems may be addressed with special behavioral management programs. Serotonin uptake inhibitors have helped many affected teenagers and adults, particularly those with obsessive-compulsive symptoms. Growth hormone treatment can normalize height, increase lean body mass, increase mobility, and decrease fat mass. Controlled trials of growth hormone therapies have shown significant benefit from infancy through adulthood. Benefits may include an increase in language and cognitive skills, and better motor performance. Sex hormone replacement helps to produce secondary sex characteristics (those that develop during puberty) but is somewhat controversial due to possible behavior problems in males, risk of stroke, and hygiene concerns related to menstruation in females. Clinical trials investigating potential treatment options for people with PWS are ongoing. ClinicalTrials.gov provides patients, family members, and members of the public with current information on clinical research studies. People interested in participating in clinical trials are encouraged to visit this site to determine if any trials would be helpful. Use each study's contact information to learn more. You can view a list of clinical trials for PWS here.   To learn more about how to find and participate in a research study, clinical trial, or patient registry, view our Get Involved in Research page.   Additional information on this topic can be found at the links below. Foundation for Prader-Willi Research - Diagnosis & Treatment  GeneReviews - Prader-Willi Syndrome Medscape - Prader-Willi Syndrome
Source: GARD
Topic: Methylcobalamin deficiency cbl G type
Question: What is (are) Methylcobalamin deficiency cbl G type ?
Answer: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
Source: GARD
Topic: Methylcobalamin deficiency cbl G type
Question: What are the symptoms of Methylcobalamin deficiency cbl G type ?
Answer: What are the signs and symptoms of Methylcobalamin deficiency cbl G type? The Human Phenotype Ontology provides the following list of signs and symptoms for Methylcobalamin deficiency cbl G 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) Blindness 5% Nystagmus 5% Autosomal recessive inheritance - Cerebral atrophy - Decreased methionine synthase activity - Decreased methylcobalamin - Failure to thrive - Feeding difficulties in infancy - Gait disturbance - Homocystinuria - Hyperhomocystinemia - Hypomethioninemia - Infantile onset - Intellectual disability - Megaloblastic anemia - Muscular hypotonia - Poor coordination - 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.
Source: GARD
Topic: Malignant peripheral nerve sheath tumor
Question: What is (are) Malignant peripheral nerve sheath tumor ?
Answer: A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue.  The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation.  MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung.  Treatment of MPNST begins with surgery to remove as much of the tumor as possible.  Radiation therapy may be used to decrease the chance of a recurrence.  Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis.  MPNSTs are quite rare, occurring in 0.001% of the general population.  Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.
Source: GARD
Topic: Glomerulopathy with fibronectin deposits 2
Question: What are the symptoms of Glomerulopathy with fibronectin deposits 2 ?
Answer: What are the signs and symptoms of Glomerulopathy with fibronectin deposits 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 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) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Generalized distal tubular acidosis - Microscopic hematuria - Renal cell carcinoma - Slow progression - Stage 5 chronic kidney disease - 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: Diffuse cutaneous systemic sclerosis
Question: What are the symptoms of Diffuse cutaneous systemic sclerosis ?
Answer: What are the signs and symptoms of Diffuse cutaneous systemic sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse cutaneous systemic sclerosis. 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) Acrocyanosis 90% Autoimmunity 90% Dry skin 90% Pulmonary infiltrates 90% Respiratory insufficiency 90% Arthralgia 50% Arthritis 50% Carious teeth 50% Feeding difficulties in infancy 50% Flexion contracture 50% Malabsorption 50% Muscle weakness 50% Osteolysis 50% Pulmonary fibrosis 50% Skin ulcer 50% Telangiectasia of the skin 50% Xerostomia 50% Chondrocalcinosis 7.5% Congestive heart failure 7.5% Hypertensive crisis 7.5% Nausea and vomiting 7.5% Pulmonary hypertension 7.5% Renal insufficiency 7.5% 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: Ichthyosis bullosa of Siemens
Question: What are the symptoms of Ichthyosis bullosa of Siemens ?
Answer: What are the signs and symptoms of Ichthyosis bullosa of Siemens? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis bullosa of Siemens. 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 blistering of the skin 90% Acantholysis 90% Edema 90% Palmoplantar keratoderma 90% Thin skin 90% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - 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: Stevens-Johnson syndrome
Question: What is (are) Stevens-Johnson syndrome ?
Answer: Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids).
Source: GARD
Topic: Stevens-Johnson syndrome
Question: What are the symptoms of Stevens-Johnson syndrome ?
Answer: What are the signs and symptoms of Stevens-Johnson syndrome? Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed. To be classified as Stevens-Johnson syndrome, the condition must involve less than 10% of the body surface area. The condition is characterized by painful, blistery lesions on the skin and the mucous membranes (the thin, moist tissues that line body cavities) of the mouth, throat, genital region, and eyelids. It can also cause serious eye problems, such as severe conjunctivitis; iritis, an inflammation inside the eye; corneal blisters and erosions; and corneal holes. In some cases, the ocular complications from this condition can be disabling and lead to severe vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Stevens-Johnson 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 blistering of the skin 90% Abnormality of temperature regulation 90% Acantholysis 90% Hypermelanotic macule 90% Malabsorption 90% Nausea and vomiting 90% Weight loss 90% Abnormality of neutrophils 50% Excessive salivation 50% Feeding difficulties in infancy 50% Abdominal pain 7.5% Abnormality of the eyelid 7.5% Abnormality of the myocardium 7.5% Abnormality of the pleura 7.5% Abnormality of the preputium 7.5% Abnormality of the urethra 7.5% Acute hepatic failure 7.5% Anemia 7.5% Corneal erosion 7.5% Coronary artery disease 7.5% Elevated hepatic transaminases 7.5% Gastrointestinal hemorrhage 7.5% Inflammatory abnormality of the eye 7.5% Pancreatitis 7.5% Photophobia 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Sepsis 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Visual impairment 7.5% 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: Stevens-Johnson syndrome
Question: What causes Stevens-Johnson syndrome ?
Answer: What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndrome. The allergic reaction to the drug may not occur until 7-14 days after first using it. Stevens-Johnson syndrome can also be preceded by a viral infection, such as herpes or the mumps. In rare cases, Stevens-Johnson syndrome may be caused by an illness or bone marrow transplantation.
Source: GARD
Topic: Stevens-Johnson syndrome
Question: What are the treatments for Stevens-Johnson syndrome ?
Answer: How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.[2144]
Source: GARD
Topic: ITCH E3 ubiquitin ligase deficiency
Question: What are the symptoms of ITCH E3 ubiquitin ligase deficiency ?
Answer: What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase 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) Chronic diarrhea 5% Abnormal facial shape - Autoimmunity - Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Dolichocephaly - Frontal bossing - Hepatomegaly - Low-set ears - Posteriorly rotated ears - Prominent occiput - Proptosis - Relative macrocephaly - Short chin - Splenomegaly - 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: Denys-Drash syndrome
Question: What is (are) Denys-Drash syndrome ?
Answer: Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: GARD
Topic: Denys-Drash syndrome
Question: What are the symptoms of Denys-Drash syndrome ?
Answer: What are the signs and symptoms of Denys-Drash syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Denys-Drash 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) Male pseudohermaphroditism 90% Nephroblastoma (Wilms tumor) 90% Nephropathy 90% Nephrotic syndrome 90% Proteinuria 90% Hypertension 50% Gonadal dysgenesis 7.5% Ambiguous genitalia, female - Ambiguous genitalia, male - Autosomal dominant inheritance - Congenital diaphragmatic hernia - Diffuse mesangial sclerosis - Focal segmental glomerulosclerosis - Gonadal tissue inappropriate for external genitalia or chromosomal sex - Ovarian gonadoblastoma - Somatic mutation - Stage 5 chronic kidney disease - True hermaphroditism - 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: Denys-Drash syndrome
Question: What causes Denys-Drash syndrome ?
Answer: What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis (where scar tissue forms throughout glomeruli, the tiny blood vessels in the kidney that filter waste from blood) and gonadal dysgenesis, which are characteristic features of Denys-Drash syndrome. The abnormal gene activity caused by the loss of normal WT1 protein also increases the risk of developing Wilms tumor in affected individuals.
Source: GARD