sarnsrun/medquad huggingface dataset:
Topic: Hypochondroplasia
Question: What are the symptoms of Hypochondroplasia ?
Answer: What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Brachydactyly syndrome 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the elbow 50% Abnormality of the femur 50% Genu varum 50% Joint hypermobility 50% Apnea 7.5% Cognitive impairment 7.5% Hyperlordosis 7.5% Intellectual disability 7.5% Macrocephaly 7.5% Osteoarthritis 7.5% Scoliosis 7.5% Spinal canal stenosis 7.5% Aplasia/hypoplasia of the extremities - Autosomal dominant inheritance - Childhood onset short-limb short stature - Flared metaphysis - Frontal bossing - Limited elbow extension - Lumbar hyperlordosis - Malar flattening - Short long bone - 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: Hypochondroplasia
Question: What are the treatments for Hypochondroplasia ?
Answer: How might hypochondroplasia be treated? The evaluation of children with hypochondroplasia usually does not differ significantly from the evaluation of children with normal stature, except for genetic counseling issues (such as risk of recurrence) and dealing with parental concerns about short stature. Management of short stature may be influenced by the concerns and expectations of the parents. One reasonable approach is to address the parents' concerns about the height of their child rather than attempting to treat the child. Developmental intervention and special education may be appropriate, if it is indicated in the affected individual. If spinal stenosis (narrowing of the spine) is present, a procedure called a laminectomy may be considered. This is a type of surgery that can take pressure off the spinal nerves or spinal canal. However, one study found that about 70% of symptomatic individuals with achondroplasia experienced total relief of symptoms following decompression, without having a laminectomy. Decompression is a less invasive procedure. Support groups can help the affected individual and the family adapt to short stature through peer support, personal example, and social awareness programs. Support groups may offer information on employment, education, disability rights, adoption of children of short stature, medical issues, suitable clothing, adaptive devices, and parenting through local meetings, workshops and seminars. To see the contact information for several support groups for hypochondroplasia, click here. Sometimes, for individuals with hypochondroplasia who are more severely affected, the features may overlap with those of achondroplasia. In these cases, recommendations for the management of achondroplasia (outlined by the American Academy of Pediatrics Committee on Genetics) may be considered. The full report on these recommendations may be viewed here. For a more limited description of management of achondroplasia on our Web site, click here.
Source: GARD
Topic: Pustular psoriasis
Question: What is (are) Pustular psoriasis ?
Answer: Pustular psoriasis is a rare form of psoriasis that is characterized by widespread pustules and reddish skin. This condition can occur alone or with plaque-type psoriasis. Most cases of pustular psoriasis are thought to be "multifactorial" or associated with the effects of multiple genes in combination with lifestyle and environmental factors. There are several triggers for this conditions including withdrawal from corticosteroids, exposure to various medications and/or infections. Some cases of the generalized form are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive pattern. In severe cases, hospitalization may be required. Treatment aims to alleviate the associated symptoms and may include certain medications and/or phototherapy.
Source: GARD
Topic: Localized lipodystrophy
Question: What are the symptoms of Localized lipodystrophy ?
Answer: What are the signs and symptoms of Localized lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Localized lipodystrophy. 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 adipose tissue 90% Cellulitis 90% 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: Myelocerebellar disorder
Question: What are the symptoms of Myelocerebellar disorder ?
Answer: What are the signs and symptoms of Myelocerebellar disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelocerebellar disorder. 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% Gait disturbance 90% Incoordination 90% Abnormality of macrophages 50% Abnormality of neutrophils 50% Acute leukemia 50% Anemia 50% Hyperreflexia 50% Neurological speech impairment 50% Nystagmus 50% Recurrent respiratory infections 50% Splenomegaly 50% Abnormality of thrombocytes 7.5% Decreased antibody level in blood 7.5% Microcephaly 7.5% Acute myelomonocytic leukemia - Ataxia - Autosomal dominant inheritance - Cerebellar atrophy - Decreased nerve conduction velocity - Dysmetria - Hyperactive deep tendon reflexes - Hypoplastic anemia - Impaired vibration sensation in the lower limbs - Pancytopenia - Unsteady gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD
Topic: Hepatic lipase deficiency
Question: What is (are) Hepatic lipase deficiency ?
Answer: Hepatic lipase deficiency is a rare condition that is characterized by increased levels of certain fats (known as triglycerides and cholesterol) in the blood. Affected people may also have increased levels of high-density lipoproteins (HDLs) and decreased levels of low-density lipoproteins (LDLs), which are two molecules that help transport fats throughout the body. Hepatic lipase deficiency may be associated with an increased risk of developing atherosclerosis and/or heart disease; however, additional research is needed on the long-term outlook of people with this condition. Hepatic lipase deficiency is caused by changes (mutations) in the LIPC gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD
Topic: Hepatic lipase deficiency
Question: What are the symptoms of Hepatic lipase deficiency ?
Answer: What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase 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) Angina pectoris - Autosomal recessive inheritance - Eruptive xanthomas - 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: Alpha-1 antitrypsin deficiency
Question: What is (are) Alpha-1 antitrypsin deficiency ?
Answer: Alpha-1 antitrypsin deficiency (AATD) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (AAT) protein in the blood. AAT is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. Having low levels of ATT (or no ATT) can allow the lungs to become damaged, making breathing hard. Age of onset and severity of AATD can vary based on how much ATT an affected person is missing. In adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. Some people have chronic obstructive pulmonary disease (COPD) or asthma. Liver disease (cirrhosis) may occur in affected children or adults. Rarely, AATD can cause a skin condition called panniculitis. AATD is caused by mutations in the SERPINA1 gene and is inherited in a codominant manner. Treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of AAT; and/or lung transplantation in severe cases.
Source: GARD
Topic: Alpha-1 antitrypsin deficiency
Question: What are the symptoms of Alpha-1 antitrypsin deficiency ?
Answer: What are the signs and symptoms of Alpha-1 antitrypsin deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-1 antitrypsin 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) Emphysema 90% Hepatic failure 90% Hepatomegaly 50% Nephrotic syndrome 7.5% Cirrhosis 5% Autosomal recessive inheritance - Chronic obstructive pulmonary disease - Elevated hepatic transaminases - Hepatocellular carcinoma - 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: Alpha-1 antitrypsin deficiency
Question: What causes Alpha-1 antitrypsin deficiency ?
Answer: What causes alpha-1 antitrypsin deficiency? Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. This gene gives the body instructions to make a protein called alpha-1 antitrypsin (AAT), which protects the body from an enzyme called neutrophil elastase. Neutrophil elastase helps the body fight infections, but it can also attack healthy tissues (especially the lungs) if not controlled by AAT. Mutations that cause AAT can cause a deficiency or absence of AAT, or a form of AAT that does not work well. This allows neutrophil elastase to destroy lung tissue, causing lung disease. In addition, abnormal AAT can build up in the liver and cause damage to the liver. The severity of AATD may also be worsened by environmental factors such as exposure to tobacco smoke, dust, and chemicals.
Source: GARD
Topic: Alpha-1 antitrypsin deficiency
Question: How to diagnose Alpha-1 antitrypsin deficiency ?
Answer: How is alpha-1 antitrypsin deficiency diagnosed? Alpha-1 antitrypsin deficiency (AATD) may first be suspected in people with evidence of liver disease at any age, or lung disease (such as emphysema), especially when there is no obvious cause or it is diagnosed at a younger age. Confirming the diagnosis involves a blood test showing a low serum concentration of the alpha-1 antitrypsin (AAT) protein, and either: detecting a functionally deficient AAT protein variant by isoelectric focusing (a method for detecting mutations); or detecting SERPINA1 gene mutations on both copies of the gene with molecular genetic testing. (This confirms the diagnosis when the above-mentioned tests are not performed or their results are not in agreement.) Specialists involved in the diagnosis may include primary care doctors, pulmonologists (lung specialists), and/or hepatologists (liver specialists).
Source: GARD
Topic: Alpha-1 antitrypsin deficiency
Question: What are the treatments for Alpha-1 antitrypsin deficiency ?
Answer: How might alpha-1 antitrypsin deficiency be treated? Treatment of alpha-1 antitrypsin deficiency (AATD) depends on the symptoms and severity in each person. COPD and other related lung diseases are typically treated with standard therapy. Bronchodilators and inhaled steroids can help open the airways and make breathing easier. Intravenous augmentation therapy (regular infusion of purified, human AAT to increase AAT concentrations) has been recommended for people with established fixed airflow obstruction (determined by a specific lung function test). This therapy raises the level of the AAT protein in the blood and lungs. Lung transplantation may be an appropriate option for people with end-stage lung disease. Liver transplantation is the definitive treatment for advanced liver disease. When present, panniculitis may resolve on its own or after dapsone or doxycycline therapy. When this therapy does not help, it has responded to intravenous augmentation therapy in higher than usual doses. All people with severe AATD should have pulmonary function tests every 6 to 12 months. Those with ATT serum concentrations 10% to 20% of normal should have periodic evaluation of liver function to detect liver disease. People with established liver disease should have periodic ultrasounds of the liver to monitor for fibrotic changes and liver cancer (hepatocellular carcinoma). Yearly vaccinations against influenza and pneumococcus are recommended to lessen the progression of lung disease. Vaccination against hepatitis A and B is recommended to lessen the risk of liver disease. People with AATD should avoid smoking and occupations with exposure to environmental pollutants. Parents, older and younger siblings, and children of a person with severe AATD should be evaluated to identify as early as possible those who would benefit from treatment and preventive measures.
Source: GARD
Topic: Sneddon syndrome
Question: What is (are) Sneddon syndrome ?
Answer: Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesions to develop within the central nervous system. This can lead to reduced mental capacity, memory loss and other neurological symptoms. The exact cause of Sneddon syndrome is unknown. Some familial cases have been described. It has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome.
Source: GARD
Topic: Sneddon syndrome
Question: What are the symptoms of Sneddon syndrome ?
Answer: What are the signs and symptoms of Sneddon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sneddon 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) Behavioral abnormality 90% Cerebral ischemia 90% Cutis marmorata 90% Memory impairment 90% Migraine 90% Vertigo 90% Acrocyanosis 50% Amaurosis fugax 50% Developmental regression 50% Hemiplegia/hemiparesis 50% Hypertension 50% Muscle weakness 50% Neurological speech impairment 50% Visual impairment 50% Autoimmunity 7.5% Chorea 7.5% Intracranial hemorrhage 7.5% Nephropathy 7.5% Seizures 7.5% Tremor 7.5% Antiphospholipid antibody positivity - Autosomal dominant inheritance - Dysarthria - Facial palsy - Headache - Hemiplegia - Mental deterioration - Progressive - Sporadic - Stroke - 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: Sneddon syndrome
Question: What causes Sneddon syndrome ?
Answer: What causes Sneddon syndrome? The cause of Sneddon syndrome is not well understood. It is possible that the syndrome has more than one cause (or way in which it may develop in a person). Some people develop Sneddon syndrome in association with other medical conditions such as obliterating vasculitis and antiphospholipid antibody syndrome. Most cases of Sneddon syndrome occur in people with no other family history of the condition, however there have been a few families with more than one member affected. A recent study found that in one family, Sneddon syndrome developed as a result of inheriting two changes in the CECR1 gene. In this family, Sneddon syndrome was inherited in an autosomal recessive fashion. Other case reports of familial Sneddon syndrome suggest an autosomal dominant pattern of inheritance.  It is not currently known if all familial cases are due to changes in CECR1.  Currently there is a research study titled, Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory Diseases, which is studying the effects of CECR1 gene mutations. The study lead is Dr. Daniel Kastner of the National Human Genome Research Institute. Click on the study title to learn more.
Source: GARD
Topic: Prekallikrein deficiency, congenital
Question: What are the symptoms of Prekallikrein deficiency, congenital ?
Answer: What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. 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 - Prolonged partial thromboplastin time - 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