falan42/medcuad_data huggingface dataset:
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)
Topic: STAR syndrome
Question: What are the symptoms of STAR syndrome ?
Answer: What are the signs and symptoms of STAR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for STAR 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) Clinodactyly of the 5th finger 90% External ear malformation 90% Short stature 90% Toe syndactyly 90% Urogenital fistula 90% Abnormal localization of kidney 50% Abnormality of female internal genitalia 50% Abnormality of the cardiac septa 50% Female pseudohermaphroditism 50% Midline defect of the nose 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Telecanthus 50% Thin vermilion border 50% Vesicoureteral reflux 50% Abnormality of the aortic valve 7.5% Abnormality of the macula 7.5% Abnormality of the pulmonary artery 7.5% Aplasia/Hypoplasia of the radius 7.5% Chorioretinal abnormality 7.5% Cleft eyelid 7.5% Mitral stenosis 7.5% Myopia 7.5% Seizures 7.5% Syringomyelia 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: Chronic fatigue syndrome
Question: What is (are) Chronic fatigue syndrome ?
Answer: Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities.  It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. The main symptom is disabling fatigue that does not improve with rest. Other signs and symptoms may include muscle pain; joint pain; concentration and memory problems; headaches; sleep problems; fever; sore throat; and/or tender lymph nodes. The cause of chronic fatigue syndrome is not known yet. Some researchers have proposed that this condition is caused by viral infections or by immunological, hormonal or mental or psychiatric problems, but none have been proved. It is also believed that there may be a genetic predisposition for this condition and stress-related events act as triggers. Because the symptoms are similar to many conditions that need to be ruled out, the diagnosis make take some time to be made and patients are frequently misunderstood. Those who are affected are typically highly functioning individuals who are "struck down" with this disease. There is still no cure for this condition but there are several clinical trials. Current treatment consists of cognitive and/or behavioral therapy and focuses on improving symptoms and may include medications to treat pain, sleep disorders and other associated problems. There is significant controversy and debate in the medical literature about the relationship between myalgic encephalomyelitis and chronic fatigue syndrome. Unfortunately there is no consensus on nomenclature or classification for these disorders, and different countries, organizations, and researchers continue to use different names to describe these conditions. Until a global consensus is reached on how to name and classify these disorders, confusion will persist.
(Source: GARD)
Topic: Chronic fatigue syndrome
Question: How to diagnose Chronic fatigue syndrome ?
Answer: How is chronic fatigue syndrome diagnosed? No specific diagnostic tests are available. Though there is no definitive diagnostic test, the diagnosis can be made if the patient has a typical history, and no abnormality can be detected on the exam or in the screening tests.    The Committee on the Diagnostic Criteria for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, The Board of Select Populations and the Institute of Medicine proposed a diagnosis criteria which requires that the patient have the following three symptoms: 1. A chronic fatigue that interferes with the daily activities and work,  which is often profound, is of new or definite onset (not lifelong), is not the result of ongoing excessive exertion or other medical conditions, and is not greatly alleviated by rest. 2. Post-exertional malaise. 3. Unrefreshing sleep. At least one of the two following symptoms is also required: 1. Cognitive impairment (imparirment of short memory or concentration). 2. Orthostatic intolerance (Onset of symptoms when standing upright that are improved by lying back down). Other  symptoms include post exertion illness lasting more than 24 hours, muscle pain, pain in the joints, headaces, tender lymph nodes and sore throat.   These symptoms should have persisted or recurred during 6 or more consecutive months of illness and they cannot have first appeared before the fatigue. The following tests are expected to be normal in patients with chronic fatigue syndrome:  Complete blood count with differential count;  Chemistry screen;  Thyroid stimulating hormone level;  Other tests based in the patients symptoms like immunologic tests or serologic tests.
(Source: GARD)
Topic: Chronic fatigue syndrome
Question: What are the treatments for Chronic fatigue syndrome ?
Answer: How might chronic fatigue syndrome be treated? Treatment options for chronic fatigue syndrome (CFS) are limited.[9440] Treatment is largely supportive and is focused on the specific symptoms present in each individual. In most cases, symptoms of CFS lessen over time. Many therapies have been tried, but only cognitive behavioral therapy (CBT) and graded exercise therapy reportedly appear to produce meaningful benefit. CBT typically involves a series of one-hour sessions designed to alter beliefs and behaviors that might delay recovery. Graded exercise therapy can be beneficial because prolonged lack of exercise may worsen the symptoms of the condition and should be discouraged.[9440] Gradual introduction of regular aerobic exercise, such as walking, swimming, cycling, or jogging, under close medical supervision may reduce fatigue and improve physical function. The goal is to have 30 minutes of light exercise five times a week. To avoid overexertion it is recommended to set a target heart rate range, generally <100 beats per minute. Graded exercise should be always supervised by a physical therapist or exercise therapist. In some studies, women with this condition were found to have low normal fitness on treadmill testing with no indication of heart or lung problems. Maximal testing did not result in worse fatigue or other symptoms. Because many people who have CFS are also depressed, treating the depression can make it easier to cope with the problems associated with CFS. Low doses of some antidepressants may help improve sleep and relieve pain.[6269] A number of medications, special diets and vitamin supplements have been evaluated in individuals with CFS, but none have been proven effective. Although there have been a number of viruses that were initially reported to cause CFS, additional studies have not proven this.[9440] Trials of antiviral agents have been ineffective in relieving the symptoms of CFS. Several clinical trials aiming to find effective treatment are currently ongoing.
(Source: GARD)
Topic: Porokeratosis, disseminated superficial actinic 2
Question: What are the symptoms of Porokeratosis, disseminated superficial actinic 2 ?
Answer: What are the signs and symptoms of Porokeratosis, disseminated superficial actinic 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Porokeratosis, disseminated superficial actinic 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) Aplasia/Hypoplasia of the skin 90% Hyperkeratosis 90% Hypohidrosis 90% Cutaneous photosensitivity 50% Pruritus 50% Neoplasm of the skin 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: Thyrotoxic periodic paralysis
Question: What are the symptoms of Thyrotoxic periodic paralysis ?
Answer: What are the signs and symptoms of Thyrotoxic periodic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyrotoxic periodic paralysis. 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) Goiter - Heterogeneous - Hyperthyroidism - Hypokalemia - Muscle weakness - Palpitations - Periodic paralysis - Rhabdomyolysis - 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: Methylmalonic acidemia with homocystinuria, type cblC
Question: What is (are) Methylmalonic acidemia with homocystinuria, type cblC ?
Answer: Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.
(Source: GARD)
Topic: Dwarfism stiff joint ocular abnormalities
Question: What are the symptoms of Dwarfism stiff joint ocular abnormalities ?
Answer: What are the signs and symptoms of Dwarfism stiff joint ocular abnormalities? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism stiff joint ocular abnormalities. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cataract - Delayed ossification of carpal bones - Disproportionate short-limb short stature - Glaucoma - Hypermetropia - Joint stiffness - Retinal detachment - Severe short stature - Short lower limbs - Short phalanx of finger - Thickened skin - 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: Congenitally corrected transposition of the great arteries
Question: What is (are) Congenitally corrected transposition of the great arteries ?
Answer: Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers. Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block) are often associated with this defect and require treatment.
(Source: GARD)
Topic: Congenitally corrected transposition of the great arteries
Question: What causes Congenitally corrected transposition of the great arteries ?
Answer: What causes congenitally corrected transposition of the great arteries? Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. Also, having a family history of this heart defect is a risk factor. It has been estimated that the recurrence risk in siblings is around 3% to 5%.
(Source: GARD)
Topic: Cerebral sarcoma
Question: What are the symptoms of Cerebral sarcoma ?
Answer: What are the signs and symptoms of Cerebral sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cerebral sarcoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Fibrosarcoma - 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: Systemic capillary leak syndrome
Question: What is (are) Systemic capillary leak syndrome ?
Answer: 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.
(Source: GARD)
Topic: Systemic capillary leak syndrome
Question: What are the symptoms of Systemic capillary leak syndrome ?
Answer: 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.
(Source: GARD)
Topic: Systemic capillary leak syndrome
Question: What are the treatments for Systemic capillary leak syndrome ?
Answer: 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.
(Source: GARD)