sarnsrun/medquad huggingface dataset:
Topic: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Question: What are the symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis ?
Answer: What are the signs and symptoms of Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. 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) Cataract 5% Adult onset - Areflexia - Atrophy/Degeneration involving the spinal cord - Autosomal recessive inheritance - Cognitive impairment - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Dilated cardiomyopathy - Dysarthria - Gastroparesis - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased serum lactate - Increased variability in muscle fiber diameter - Intestinal pseudo-obstruction - Migraine - Mildly elevated creatine phosphokinase - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Myoclonus - Nystagmus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Progressive gait ataxia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Seizures - Sensorineural hearing impairment - Sensory ataxic neuropathy - Sensory axonal neuropathy - Subsarcolemmal accumulations of abnormally shaped mitochondria - Vestibular dysfunction - 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: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Question: What is (are) Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?
Answer: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. NCAH is caused by changes (mutations) in the CYP21A2 gene and is inherited in an autosomal recessive manner. Treatment is only necessary in people who are symptomatic and may include a glucocorticoid called dexamethasone.
Source: GARD
Topic: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Question: What are the symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?
Answer: What are the signs and symptoms of Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? The signs and symptoms of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may develop any time after birth. Affected people generally experience symptoms of androgen (male hormone) excess such as acne, premature development of pubic hair, accelerated growth, advanced bone age, and reduced adult height. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. Some men and women affected by NCAH have no signs or symptoms of the condition. The Human Phenotype Ontology provides the following list of signs and symptoms for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase 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) Abnormality of the thorax - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal recessive inheritance - Fever - Growth abnormality - Gynecomastia - Hypertension - Hypoglycemia - Hypospadias - Renal salt wasting - 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: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Question: What causes Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?
Answer: What causes non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is caused by changes (mutations) in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is found in the adrenal glands. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in CYP21A2 lead to deficient levels of 21-hydroxylase which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of NCAH. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. People with NCAH have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than the classic form of congenital adrenal hyperplasia.
Source: GARD
Topic: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Question: Is Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited ?
Answer: Is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency inherited? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Source: GARD
Topic: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Question: How to diagnose Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?
Answer: How is non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency diagnosed? A diagnosis of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include a blood test to measure the concentration of 17-hydroxyprogesterone (17-OHP) and/or an adrenocorticotropic hormone (ACTH) stimulation test. An ACTH stimulation test involves measuring the concentration of 17-OHP in the blood before ACTH is administered and 60 min after ACTH is given.
Source: GARD
Topic: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Question: What are the treatments for Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?
Answer: How might non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency be treated? In some cases, people affected by non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) may not require any treatment. Many are asymptomatic throughout their lives, although symptoms may develop during puberty, after puberty, or post partum. If symptoms are present, a glucocorticoid called dexamethasone is often recommended. Dexamethasone can treat irregular menstruation, acne, and excess body hair (hirsutism).
Source: GARD
Topic: Cervical hypertrichosis peripheral neuropathy
Question: What are the symptoms of Cervical hypertrichosis peripheral neuropathy ?
Answer: What are the signs and symptoms of Cervical hypertrichosis peripheral neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical hypertrichosis peripheral neuropathy. 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) Dandy-Walker malformation 90% EMG abnormality 90% Hypertrichosis 90% Osteomyelitis 50% Skin ulcer 50% Anterior cervical hypertrichosis - Autosomal recessive inheritance - Motor polyneuropathy - Sensory neuropathy - 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: Cryptogenic organizing pneumonia
Question: What is (are) Cryptogenic organizing pneumonia ?
Answer: Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often affects adults in midlife (40 to 60 years of age). The exact underlying cause of the condition is unknown (idiopathic). Treatment varies based on the severity of the condition but generally includes glucocorticoids.
Source: GARD
Topic: Cryptogenic organizing pneumonia
Question: What are the symptoms of Cryptogenic organizing pneumonia ?
Answer: What are the signs and symptoms of cryptogenic organizing pneumonia? Signs and symptoms of cryptogenic organizing pneumonia (COP) vary but may include: Persistent nonproductive cough Difficult or labored breathing Fever Malaise Weight loss Hemoptysis (rare)
Source: GARD
Topic: Cryptogenic organizing pneumonia
Question: What causes Cryptogenic organizing pneumonia ?
Answer: What causes cryptogenic organizing pneumonia? The underlying cause of cryptogenic organizing pneumonia (COP) is unknown (idiopathic). Organizing pneumonia is specifically diagnosed as COP when, among other characteristics, no definite cause for the organizing pneumonia is found. In other words, any known cause for the pneumonia must be ruled out before stating that a person is affected by COP. Other forms of organizing pneumonia may result from infection (bacteria, viruses, parasites, or fungi); drugs; or a reaction to radiation therapy for breast cancer. Organizing pneumonia can also be associated with specific disorders such as certain connective tissue disorders, blood malignancies (cancers), or ulcerative colitis.
Source: GARD
Topic: Cryptogenic organizing pneumonia
Question: Is Cryptogenic organizing pneumonia inherited ?
Answer: Is cryptogenic organizing pneumonia inherited? We are not aware of any familial cases of cryptogenic organizing pneumonia (COP) in the medical literature, and to our knowledge, there is no evidence that some people may be genetically predisposed to developing COP.
Source: GARD
Topic: Cryptogenic organizing pneumonia
Question: How to diagnose Cryptogenic organizing pneumonia ?
Answer: How is cryptogenic organizing pneumonia diagnosed? A diagnosis of cryptogenic organizing pneumonia is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been excluded. This includes ruling out other known causes of organizing pneumonia. Additional testing such as a computed tomography (CT) scan or lung biopsy can confirm the diagnosis.
Source: GARD
Topic: Cryptogenic organizing pneumonia
Question: What are the treatments for Cryptogenic organizing pneumonia ?
Answer: How might cryptogenic organizing pneumonia be treated? The treatment of cryptogenic organizing pneumonia (COP) generally depends on the severity of the condition. For example, people who are mildly affected may simply be monitored as some cases can improve on their own. Unfortunately, the majority of people with COP have persistent and/or progressive symptoms that will require therapy. In these cases, oral or intravenous glucocorticoids can be given which often result in rapid improvement of symptoms.
Source: GARD
Topic: Spastic paraplegia 5B
Question: What are the symptoms of Spastic paraplegia 5B ?
Answer: What are the signs and symptoms of Spastic paraplegia 5B? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 5B. 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 - Spastic paraplegia - 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: Revesz syndrome
Question: What are the symptoms of Revesz syndrome ?
Answer: What are the signs and symptoms of Revesz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Revesz 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 hair quantity 90% Abnormality of neutrophils 90% Abnormality of the nail 90% Abnormality of the oral cavity 90% Abnormality of the retinal vasculature 90% Anemia 90% Aplasia/Hypoplasia of the cerebellum 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Premature birth 90% Retinal detachment 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormality of metabolism/homeostasis - Aplastic anemia - Ataxia - Autosomal dominant inheritance - Bone marrow hypocellularity - Cerebellar hypoplasia - Cerebral calcification - Exudative retinopathy - Fine, reticulate skin pigmentation - Hypertonia - Leukocoria - Megalocornea - Nail dystrophy - Nail pits - Nystagmus - Oral leukoplakia - Progressive neurologic deterioration - Ridged fingernail - Sparse hair - Sporadic - 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: Vici syndrome
Question: What is (are) Vici syndrome ?
Answer: Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive.
Source: GARD
Topic: Vici syndrome
Question: What are the symptoms of Vici syndrome ?
Answer: What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici 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) Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the corpus callosum 90% Cellular immunodeficiency 90% Cognitive impairment 90% EEG abnormality 90% Generalized hypopigmentation 90% Hypertrophic cardiomyopathy 90% Hypopigmentation of hair 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Abnormality of the renal tubule 50% Aplasia/Hypoplasia of the cerebellum 50% Cataract 50% Nystagmus 50% Optic atrophy 50% Seizures 50% Abnormality of the macula 7.5% Cerebral cortical atrophy 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Limitation of joint mobility 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Abnormal posturing - Abnormality of the thymus - Acidosis - Agenesis of corpus callosum - Albinism - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Chronic mucocutaneous candidiasis - Cleft palate - Cleft upper lip - Congenital cataract - Congenital onset - Congestive heart failure - Cutaneous anergy - Decreased number of CD4+ T cells - Decreased T cell activation - Dilated cardiomyopathy - Failure to thrive - Growth delay - Hypopigmentation of the fundus - IgG deficiency - Immunoglobulin IgG2 deficiency - Left ventricular hypertrophy - Low-set ears - Microcephaly - Motor delay - Myopathy - Ocular albinism - Penile hypospadias - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Schizencephaly - White matter neuronal heterotopia - 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