bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Familial Mediterranean fever? Familial Mediterranean fever (FMF) is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied by abdominal pain, chest pain, joint pain, pelvic pain, muscle aches, and/or a skin rash. The muscle pain is often confused with fibromyalgia and the joint pain is sometimes confused with gout. The pain symptoms are usually the result of inflammation in the lining of the abdomen, lungs, joints, heart, pelvis, and/or in the membrane that surrounds the brain and spinal cord. Headaches and amyloidosis may also occur. The majority of people with FMF experience their first episode by age 20. The frequency of such attacks is highly variable and the interval between attacks ranges from days to years. The frequency and symptoms experienced during an attack may also change over time. People tend to be symptom-free between attacks. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial Mediterranean fever. 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) Abdominal pain 90% Abnormality of temperature regulation 90% Arthralgia 90% Constipation 90% Myalgia 90% Nausea and vomiting 90% Abnormality of the oral cavity 50% Abnormality of the pleura 50% Chest pain 50% Diarrhea 50% Erysipelas 50% Proteinuria 50% Seizures 50% Abnormality of the pericardium 7.5% Acute hepatic failure 7.5% Arrhythmia 7.5% Ascites 7.5% Coronary artery disease 7.5% Edema of the lower limbs 7.5% Gastrointestinal infarctions 7.5% Intestinal obstruction 7.5% Lymphadenopathy 7.5% Malabsorption 7.5% Meningitis 7.5% Nephrocalcinosis 7.5% Nephropathy 7.5% Nephrotic syndrome 7.5% Orchitis 7.5% Osteoarthritis 7.5% Pancreatitis 7.5% Skin rash 7.5% Splenomegaly 7.5% Vasculitis 7.5% Arthritis - Autosomal recessive inheritance - Elevated erythrocyte sedimentation rate - Episodic fever - Hepatomegaly - Leukocytosis - Pericarditis - Peritonitis - Pleuritis - Renal amyloidosis - Renal insufficiency - 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.
How is familial Mediterranean fever (FMF) inherited? FMF is almost always 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. As many as 1 in 5 people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage are carriers for FMF.  In rare cases, this condition appears to be inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FMF inherited in an autosomal dominant manner has a 50% chance with each pregnancy of passing along the altered gene to his or her child. In some cases, FMF may appear to be autosomal dominant when it is actually autosomal recessive. This phenomenon is called pseudodominance. This may happen in families if one parent is an unaffected, unknown carrier (with 1 mutation) and the other parent is affected (with 2 mutations). It may appear that an affected child inherited FMF from only the affected parent, when in fact he/she inherited one mutation from each parent.
How is familial Mediterranean fever (FMF) diagnosed? In making a diagnosis of FMF, doctors take all of these factors into account: Whether the person has the clinical symptoms common for the disease and whether the symptoms are recurrent. How he or she responds to colchicine treatment. Usually a positive family history in people of Middle Eastern ancestry. The results of genetic testing. Also helpful in establishing a correct diagnosis of FMF is the person's ancestry. Testing for the following can also be helpful: Elevated white blood cell count, which is an indication of an immune response. Elevated erythrocyte sedimentation rate (ESR), which is an indication of an inflammatory response. Elevated plasma fibrinogen, which helps stop bleeding. An elevated amount would indicate that something might be wrong with this mechanism. Elevated serum haptoglobin, which would indicate that red blood cells are being destroyed, a common occurrence in rheumatic diseases, such as FMF. Elevated C-reactive protein, which is a special type of protein, produced by the liver, that is only present during episodes of acute inflammation. Elevated albumin in the urine, which is demonstrated by urinalysis. The presence of the protein albumin in the urine can be a symptom of kidney disease, along with microscopic hematuria (very small - microscopic - amounts of blood or blood cells in the urine), during attacks. Is genetic testing for familial Mediterranean fever (FMF) available? Yes. The Genetic Testing Registry (GTR) provides information about the genetic testing for this condition. We strongly recommend that you work with a genetics professional if you wish to pursue genetic testing.
How might familial Mediterranean fever (FMF) be treated? Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of people with FMF demonstrate a marked improvement. Even if colchicine does not prevent the fever attacks, it does prevent the amyloidosis. However, compliance in taking colchicine every day is very important. If a person stops taking the drug, an attack can occur within a few days. Complications of colchicine use can also occur and include muscle weakness (myopathy) and a toxic epidermal necrolysis-like reaction. Since the gene that causes FMF codes for the protein pyrin, researchers hope that by studying how this protein works they will ultimately develop improved treatments for FMF, and possibly for other conditions involving excess inflammation.
Autoimmune hemolytic anemia (AIHA) occurs when your immune system makes antibodies that attack your red blood cells. This causes a drop in the number of red blood cells, leading to hemolytic anemia. Symptoms may include unusual weakness and fatigue with tachycardia and breathing difficulties, jaundice, dark urine and/or splenomegaly. AIHA can be primary (idiopathic) or result from an underlying disease or medication. The condition may develop gradually or occur suddenly. There are two main types of autoimmune hemolytic anemia: warm antibody hemolytic anemia and cold antibody hemolytic anemia. Treatment may include corticosteroids such as prednisone, splenectomy, immunosuppressive drugs and/or blood transfusions.
What are the signs and symptoms of Autoimmune hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hemolytic anemia. 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) Autoimmunity 90% Hemolytic anemia 90% Migraine 90% Muscle weakness 90% Pallor 90% Respiratory insufficiency 90% Abnormality of the liver 50% Lymphoma 50% Abdominal pain 7.5% Abnormality of temperature regulation 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 7.5% Splenomegaly 7.5% Abnormality of metabolism/homeostasis - Autoimmune hemolytic anemia - Autosomal 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 causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell transplant. Secondary causes of autoimmune hemolytic anemia include:  Autoimmune diseases, such as lupus Chronic lymphocytic leukemia Non-Hodgkin's lymphoma and other blood cancers Epstein-Barr virus Cytomegalovirus Mycoplasma pneumonia Hepatitis HIV
Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to run in families. In these cases, it appears to follow an autosomal recessive pattern of inheritance. If you have concerns about the specific risks in your family, we encourage you to consult with a genetics professional.
Ascher syndrome is a rare condition characterized by a combination of episodic edemea or swelling of the eyelids (blepharochalasia), double lip, and nontoxic thyroid enlargement (goiter). The underlying cause of this condition is unknown. Most cases are sporadic, but familial cases suggestive of autosomal dominant inheritance have also been reported. The condition is often undiagnosed due to its rarity. Treatment may include surgical excision of the double lip and/or surgery for eyelid edema.
What are the signs and symptoms of Ascher Syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ascher 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) Blepharophimosis 90% Goiter 50% Hypothyroidism 50% Ptosis 50% Visual impairment 50% Abnormality of the nose 7.5% Abnormality of the palate 7.5% Deviation of finger 7.5% Hypertelorism 7.5% Abnormality of the eye - Abnormality of the mouth - Autosomal dominant inheritance - Blepharochalasis - 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.
A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial or ethnic background and on any area of the body. They result from localized genetic changes in the fetus that lead to excessive growth of melanocytes, the cells in the skin that are responsible for skin color. People with giant congenital nevi may experience a number of complications ranging from fragile, dry, or itchy skin to neurological problems like neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord). They also have an increased risk of developing malignant melanoma, a type of skin cancer.
What are the signs and symptoms of Giant congenital nevus? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant congenital nevus. 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) Hypertrichosis 50% Hydrocephalus 7.5% Hypopigmented skin patches 7.5% Pruritus 7.5% Sarcoma 7.5% Seizures 7.5% Autosomal dominant inheritance - Broad forehead - Broad nasal tip - Congenital giant melanocytic nevus - Cutaneous melanoma - Deep philtrum - Full cheeks - Long philtrum - Narrow nasal ridge - Open mouth - Periorbital fullness - Prominence of the premaxilla - Prominent forehead - Round face - Short nose - 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.
How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi are removed, the surrounding skin can often be pulled together with stitches. Larger nevi may need to be removed in several stages and full-thickness skin grafts may be needed to help the skin heal following surgery. Laser treatments may be used for superficial skin imperfections, including reducing pigment and hair, but cannot completely remove the nevus. Affected individuals should self-monitor and continue to have regular skin examinations to check for benign or malignant tumors. Early awareness will allow their physicians  to adjust treatment protocols  accordingly. Children are most likely to show neurological signs before primary school and can respond well to a range of symptomatic therapies.
What are the signs and symptoms of McKusick Kaufman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for McKusick Kaufman 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) Cryptorchidism 50% Displacement of the external urethral meatus 50% Postaxial hand polydactyly 50% Urogenital sinus anomaly 50% Abnormality of the metacarpal bones 7.5% Aganglionic megacolon 7.5% Atria septal defect 7.5% Brachydactyly syndrome 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Ectopic anus 7.5% Finger syndactyly 7.5% Hypoplastic left heart 7.5% Multicystic kidney dysplasia 7.5% Patent ductus arteriosus 7.5% Postaxial foot polydactyly 7.5% Renal hypoplasia/aplasia 7.5% Short stature 7.5% Tarsal synostosis 7.5% Tetralogy of Fallot 7.5% Urogenital fistula 7.5% Ventricular septal defect 7.5% Abnormality of cardiovascular system morphology - Anal atresia - Autosomal recessive inheritance - Congenital hip dislocation - Edema - Edema of the lower limbs - Hydrometrocolpos - Hydronephrosis - Hydroureter - Mesoaxial hand polydactyly - Polycystic kidney dysplasia - Pulmonary hypoplasia - Rectovaginal fistula - Syndactyly - Transverse vaginal septum - Vaginal atresia - Vesicovaginal fistula - 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 signs and symptoms of Macular dystrophy, corneal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, corneal type 1. 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 metabolism/homeostasis - Autosomal recessive inheritance - Corneal dystrophy - Juvenile onset - Macular dystrophy - Photophobia - Punctate opacification of the cornea - Recurrent corneal erosions - 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.
Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness, high blood pressure, backache, high blood sugar, easy bruising and bluish-red stretch marks on the skin. Affected women may also experience irregular menstrual periods and increased growth of body and facial hair. This condition may be caused by a variety of factors including long-term use of corticosteroid medications, tumors in the pituitary gland or adrenal adenomas.Treatment depends on the underlying cause, but may include decreasing the dosage of corticosteroids or surgery to remove tumors.