Druvith/medqa huggingface dataset:
How to diagnose Peutz-Jeghers syndrome ? 

Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Peutz-Jeghers syndrome diagnosed? A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS. Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
What is (are) Sotos syndrome ? 

Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited).
What are the symptoms of Sotos syndrome ? 

What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos 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) Accelerated skeletal maturation 90% Cognitive impairment 90% Depressed nasal ridge 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Tall stature 90% Advanced eruption of teeth 50% Anteverted nares 50% Conductive hearing impairment 50% Dolichocephaly 50% Hypoglycemia 50% Obesity 50% Precocious puberty 50% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ureter 7.5% Behavioral abnormality 7.5% Coarse facial features 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% EEG abnormality 7.5% Genu valgum 7.5% Genu varum 7.5% Hyperreflexia 7.5% Neoplasm of the nervous system 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Presacral teratoma 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Abnormal glucose tolerance - Atria septal defect - Autosomal dominant inheritance - Cavum septum pellucidum - Enlarged cisterna magna - Expressive language delay - High anterior hairline - High palate - Hypermetropia - Intellectual disability - Joint laxity - Large hands - Long foot - Narrow palate - Neonatal hypotonia - Nephroblastoma (Wilms tumor) - Nystagmus - Otitis media - Partial agenesis of the corpus callosum - Pes planus - Pointed chin - Poor coordination - Small nail - Sporadic - 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.
Is Sotos syndrome inherited ? 

How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from a parent. In these cases, the condition is the result of a new (de novo) mutation that occurred for the first time in the affected person. Only about 5% of people with Sotos syndrome have an affected parent and inherit the condition from that parent. If a parent of an affected person with an identified NSD1 mutation does not have any features of Sotos syndrome, that parent is very unlikely to have a mutation in the gene. This can be confirmed with genetic testing if the mutation has been identified in the child. If a person with Sotos syndrome has children, each child has a 50% (1 in 2) chance to inherit the mutation. However, the specific features and severity can vary from one generation to the next, so it is not possible to predict how a child will be affected.
What are the symptoms of Joubert syndrome with oculorenal anomalies ? 

What are the signs and symptoms of Joubert syndrome with oculorenal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome with oculorenal anomalies. 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) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Nephropathy 90% Chorioretinal coloboma 50% Iris coloboma 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow forehead 50% Nystagmus 50% Ptosis 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Prominent nasal bridge 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Agenesis of cerebellar vermis - Aplasia/Hypoplasia of the cerebellar vermis - Ataxia - Autosomal recessive inheritance - Blindness - Brainstem dysplasia - Dilated fourth ventricle - Dyspnea - Hepatic fibrosis - Hepatic steatosis - Hepatomegaly - Heterotopia - Hypoplasia of the brainstem - Intellectual disability, progressive - Intellectual disability, severe - Molar tooth sign on MRI - Nephronophthisis - Occipital meningocele - Polycystic kidney dysplasia - Postaxial foot polydactyly - Postaxial hand polydactyly - Renal corticomedullary cysts - Retinal dystrophy - Stage 5 chronic kidney disease - Tachypnea - Tubular atrophy - Tubulointerstitial fibrosis - Undetectable electroretinogram - 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.
What is (are) Systemic capillary leak syndrome ? 

Systemic capillary leak syndrome is a condition in which fluid and proteins leak out of tiny blood vessels and flow into surrounding tissues, resulting in dangerously low blood pressure. Attacks frequently last for several days and require emergency care. Most cases of capillary leak occur randomly in previously healthy adults. Treatment involves preventing attacks using medications which may decrease capillary leakage and interfere with hormones that may cause future leakage. Once an attack is underway, treatment is aimed at controlling blood pressure to maintain blood flow to vital organs and prevention of swelling due to fluid accumulation. Capillary leak syndrome may lead to multiple organ failure, shock and even death.
What are the symptoms of Systemic capillary leak syndrome ? 

What are the signs and symptoms of Systemic capillary leak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Systemic capillary leak 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) Edema of the lower limbs 90% Leukocytosis 90% Abdominal pain 50% Abnormal immunoglobulin level 50% Diarrhea 50% Hypotension 50% Impaired temperature sensation 50% Myalgia 50% Pancreatitis 50% Pulmonary edema 50% Sinusitis 50% Weight loss 50% Abnormality of temperature regulation 7.5% Abnormality of the myocardium 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Abnormality of the renal tubule 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Seizures 7.5% Sudden cardiac death 7.5% Thrombophlebitis 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.
What are the treatments for Systemic capillary leak syndrome ? 

How might systemic capillary leak syndrome be treated? Unfortunately, there is no cure for systemic capillary leak syndrome at this time.  However, recent studies suggest that taking medication known as beta-adrenergic agonists (including terbutaline) or undergoing immunoglobulin intravenous (IV) therapy may reduce the frequency of attacks and may increase survival in individuals affected with this condition.
What is (are) Acrodermatitis enteropathica ? 

Acrodermatitis enteropathica (AE) is a disorder of zinc metabolism that can either be inherited or acquired. Both forms lead to the inability to absorb zinc from the intestine. The lack of zinc can cause skin inflammation with a rash (pustular dermatitis) around the mouth and/or anus; diarrhea; and abnormal nails (nail dystrophy). Irritability and emotional disturbances can also occur. The inherited form is caused by mutations in the SLC39A4 gene and inherited in an autosomal recessive pattern. The acquired form can result from diets lacking the appropriate amount of zinc. Supplemental zinc usually eliminates the symptoms of acrodermatitis enteropathica.
What are the symptoms of Acrodermatitis enteropathica ? 

What are the signs and symptoms of Acrodermatitis enteropathica? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrodermatitis enteropathica. 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 the eyebrow 90% Alopecia 90% Cerebral cortical atrophy 90% Diarrhea 90% Dry skin 90% Malabsorption 90% Pustule 90% Short stature 90% Abnormality of the fingernails 50% Abnormality of the toenails 50% Cheilitis 50% Furrowed tongue 50% Glossitis 50% Inflammatory abnormality of the eye 50% Photophobia 50% Skin ulcer 50% Anorexia 7.5% Corneal erosion 7.5% Visual impairment 7.5% Weight loss 7.5% Alopecia of scalp - Ataxia - Autosomal recessive inheritance - Decreased taste sensation - Decreased testicular size - Decreased testosterone in males - Emotional lability - Failure to thrive - Hepatomegaly - Hypogonadism - Impaired T cell function - Infantile onset - Irritability - Lethargy - Low alkaline phosphatase - Paronychia - Poor appetite - Recurrent candida infections - Splenomegaly - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Dystonia 3, torsion, X-linked ? 

What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, X-linked. 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) Adult onset - Chorea - Myoclonus - Parkinsonism with favorable response to dopaminergic medication - Torsion dystonia - Tremor - X-linked recessive 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.
What is (are) Diabetic mastopathy ? 

Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es).
What are the symptoms of Diabetic mastopathy ? 

What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabetic mastopathy who have had insulin-requiring diabetes for a long time (>15 years) commonly have other diabetes complications as well (e.g., thyroid, eye, and joint involvement).
What causes Diabetic mastopathy ? 

What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia.
How to diagnose Diabetic mastopathy ? 

How is diabetic mastopathy diagnosed? The diagnosis of diabetic mastopathy should be considered in patients with long-standing insulin-dependent diabetes and a firm, mobile breast mass. Initial imaging may include mammography and ultrasound. While these methods can help to further differentiate the mass, they cannot provide a specific diagnosis of diabetic mastopathy with confident exclusion of malignancy. Magnetic resonance imaging (MRI) is unlikely to add additional information. Current practice dictates that a core biopsy (utilizing a needle to remove a small cylinder of tissue) be performed for a definitive diagnosis.  Biopsy results demonstrate lymphocytic lobulitis and ductitis, glandular atrophy (wasting), perivascular inflammation (vasculitis), dense keloid fibrosis (scarring), and epithelioid fibroblasts.
What are the treatments for Diabetic mastopathy ? 

How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast team or general practitioner. Patients should be routinely followed up with MRI or ultrasound and core biopsy if the lesions become clinically or radiologically suspicious. Lesions can be excised for cosmetic reasons or if malignancy cannot be excluded. No followup is recommended when malignancy has been ruled out.
What is (are) Encephalitis lethargica ? 

Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes including psychosis. A world-wide epidemic of encephalitis lethargica occurred from 1917 to 1928. The cause of this condition is unknown, and treatment depends on a person's symptoms. Levodopa and other antiparkinson drugs often produce dramatic responses.
What are the symptoms of Hemophagocytic lymphohistiocytosis, familial, 4 ? 

What are the signs and symptoms of Hemophagocytic lymphohistiocytosis, familial, 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis, familial, 4. 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) Muscular hypotonia 5% Seizures 5% Anemia 7/7 Hepatomegaly 7/7 Hypertriglyceridemia 5/5 Splenomegaly 7/7 Hemophagocytosis 6/7 Thrombocytopenia 6/7 Increased serum ferritin 3/4 Neutropenia 5/7 Hypofibrinogenemia 3/5 Autosomal recessive inheritance - Fever - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of Sonoda syndrome ? 

What are the signs and symptoms of Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sonoda 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 dermatoglyphics 90% Abnormality of the oral cavity 90% Anteverted nares 90% Depressed nasal ridge 90% Generalized hyperpigmentation 90% Hypopigmentation of hair 90% Narrow mouth 90% Round face 90% Short nose 90% Short stature 90% Displacement of the external urethral meatus 50% Autosomal recessive inheritance - Depressed nasal bridge - High axial triradius - Intellectual disability - 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.