bowang0911/MedQuAD huggingface dataset:
What are the signs and symptoms of Congenital primary aphakia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital primary aphakia. 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) Aniridia - Anterior segment of eye aplasia - Autosomal recessive inheritance - Congenital primary aphakia - Microphthalmia - Sclerocornea - 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.
Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most patients present with neurological features early in life, which can be secondary to intracranial hemorrhages (bleeding in the brain), impairment of cerebrospinal fluid circulation (fluid around the brain and spinal cord), and/or malignant transformation of the melanocytes. The prognosis of patients with symptomatic neurocutaneous melanosis is extremely poor, even in the absence of malignancy. Chemotherapy has been ineffective in the few patients in whom it has been tried.
What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. 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) Cognitive impairment 90% Generalized hyperpigmentation 90% Hypertrichosis 90% Melanocytic nevus 90% Seizures 90% Thickened skin 90% Abnormality of neuronal migration 7.5% Abnormality of retinal pigmentation 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Arnold-Chiari malformation 7.5% Behavioral abnormality 7.5% Chorioretinal coloboma 7.5% Cranial nerve paralysis 7.5% Dandy-Walker malformation 7.5% EEG abnormality 7.5% Encephalitis 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Melanoma 7.5% Meningocele 7.5% Renal hypoplasia/aplasia 7.5% Syringomyelia 7.5% Thrombophlebitis 7.5% Arachnoid cyst 5% Choroid plexus papilloma 5% Hydrocephalus 5% Meningioma 5% Death in infancy - Mental deterioration - Numerous congenital melanocytic nevi - 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.
Phacomatosis pigmentovascularis (PPV) is a skin and blood vessel disorder that is present from birth. Common signs and symptoms include port wine stain and pigmentary lesions, such as melanocytic nevi or epidermal nevi. A variety of classification systems have been proposed for PPV, largely depending on what type of pigmentary lesion is present. Around half of individuals with PPV have systemic disease, meaning that body systems other than the skin are affected. Systemic symptoms can vary greatly from person to person. PPV is not inherited, but is thought to be caused by a genetic phenomenon called twin spotting.
What are the signs and symptoms of phacomatosis pigmentovascularis? Characteristic signs and symptoms of phacomatosis pigmentovascularis (PPV), include port wine stain and pigmentary lesions. The port wine stain and pigmentary lesions are often extensive and can affect several areas of the body, including the face. Examples of associated pigmentary lesions, include: Melanocytic nevi  Epidermal nevi   In addition to the port wine stain and pigmentary lesions, other skin lesions are not uncommon, such as: Nevus anemicus  Cafe-au-lait spots Mongolian spots Nevus of Ota Nevus of Ito Nevus spilus Around half of people with PPV have systemic involvement (i.e., other body systems are affected). Eye conditions such as ocular melanosis (also called ocular melanocytosis) is common. Ocular melanosis refers to a blue-gray pigmentation in the 'white of the eye' or sclerae. This condition often occurs along with nevus of Ota and may affect one or both eyes. The complications of nevus of Ota are glaucoma and melanoma, as a result people with nevus of Ota require careful examination and follow-up by an opthamologist. Other eye conditions reported in PPV include iris hamartomas, iris mammillations, and iris nodules. Some individuals with PPV also have Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Signs and symptoms of Sturge-Weber syndrome include a large port-wine stain facial birthmark, blood vessel abnormalities in the brain called leptomeningeal angiomas, as well as glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Klippel-Trenaunay syndrome is characterized by a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. You can learn more about Sturge-Weber syndrome on our Web site at the following link: http://rarediseases.info.nih.gov/GARD/Condition/7706/Sturge_Weber_syndrome.aspx You can learn more about Klippel-Trenaunay syndrome on the Genetic Home Reference Web site at the following link: http://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome  A variety of other symptoms have been reported in individual cases of PPV (e.g., primary lymphedema, renal angiomas, moyamoya disease, scoliosis, malignant colonic polyposis, hypoplastic larynx, multiple granular cell tumors, and selective IgA deficiency). Conditions associated with PPV can vary greatly from person to person and can be difficult to predict.
What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.
How might phacomatosis pigmentovascularis be treated? If phacomatosis pigmentovascularis (PPV) is not associated with systemic complications (e.g., Sturge-Weber syndrome, Klippel-Trenaunay syndrome, eye conditions) it requires no treatment, however pulsed dye laser may improve the appearance of port wine stains and Q-switched laser the appearance of pigmentary nevus. Medical treatment of PPV with systemic complications requires individualized plans and often assistance from a team of specialists (e.g., opthamologist, neurologist, and vascular specialist).
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers); weakness of the arms and legs; loss of deep tendon reflexes; fatigue; and abnormal sensations. CIDP is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the "chronic counterpart" of GBS. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy.
What are the signs and symptoms of Chronic inflammatory demyelinating polyneuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic inflammatory demyelinating polyneuropathy. 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) Acute demyelinating polyneuropathy - 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 chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. However, no specific provoking antigens or other predisposing factors for CIDP have been identified. In several case reports, treatment with tumor necrosis factor-alpha inhibitors has been associated with the subsequent development of chronic demyelinating neuropathies.
How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility.
Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion. Treatment remains supportive rather than curative.
What are the signs and symptoms of Pyruvate kinase deficiency? The signs and symptoms of pyruvate kinase deficiency may vary greatly from person to person, but usually include the breakdown of red blood cells resulting in hemolytic anemia, a yellowing of the whites of the eyes (icterus), fatigue, lethargy, recurrent gallstones, jaundice, and pale skin (pallor).  In more severe cases, the first signs and symptoms may appear in utero in the form of hydrops fetalis, a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus. Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate kinase 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) Intrauterine growth retardation 5% Nonimmune hydrops fetalis 5% Abnormality of the amniotic fluid - Autosomal recessive inheritance - Cholecystitis - Cholelithiasis - Chronic hemolytic anemia - Increased red cell osmotic fragility - Jaundice - Reticulocytosis - Splenomegaly - Unconjugated hyperbilirubinemia - 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 pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. This type is more common and milder than the hereditary type.
How is pyruvate kinase deficiency inherited? Pyruvate kinase deficiency is inherited in an autosomal recessive fashion, which means that a child must inherit a gene with a disease-causing mutation from both parents to develop the disorder. The gene that causes pyruvate kinase deficiency is called the PKLR gene that is located on chromosome 1q21.  Although the inheritance is clinically autosomal recessive, most affected individuals are compound heterozygous for two different mutant alleles. It is estimated that approximatly 1 in 100 people carry one copy of a disease-causing mutation in the PKLR gene.  Carriers of one non-working PKLR gene usually have moderatly reduced levels of pyruvate kinase activity but do not develop clinical symptoms. It is possible that carriers of a mutant pyruvate kinase genemay have a protective advantage against malaria in areas where the disease is endemic.
How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions.  In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.  An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/125096-treatment#showall
Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.
What are the signs and symptoms of Congenital sucrase-isomaltase deficiency? Affected infants usually develop symptoms soon after they first ingest sucrose, which is found in modified milk formulas, fruits, or starches. Symptoms may include explosive, watery diarrhea resulting in abnormally low levels of body fluids (dehydration), abdominal swelling (distension), and/or abdominal discomfort. In addition, some affected infants may experience malnutrition, resulting from malabsorption of essential nutrients, and/or failure to thrive, resulting from nutritional deficiencies. In some cases, individuals may exhibit irritability; colic; abrasion and/or irritation (excoriation) of the skin on the buttocks as a result of prolonged diarrhea episodes; and/or vomiting. Symptoms of this disorder vary among affected individuals, but are usually more severe in infants and young children than in adults. Symptoms exhibited in infants and young children are usually more pronounced than those of the affected adults because the diet of younger individuals often includes a higher carbohydrate intake. In addition, the time it takes for intestinal digestion is less in infants or young children. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital sucrase-isomaltase 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 metabolism/homeostasis - Autosomal recessive inheritance - Diarrhea - Malabsorption - Nephrolithiasis - 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 congenital sucrase-isomaltase deficiency (CSID) diagnosed? CSID can be diagnosed through clinical evaluation, detailed patient history, and tolerance lab tests. Blood tests can be done to look for a flat serum glucose curve after patients are given a dose of sucrose. In addition, blood and urine samples may test positive for sucrose, maltose, or palatinose (a form of maltose) if used during tolerance testing. The feces may also show sucrose, glucose, and fructose, and an acid pH level of below 5.0 or 6.0.  CSID can be confirmed by taking a small sample of tissue (biopsy) from the small intestine and measuring the activity of the enzyme called sucrase-isomaltase. Other tests may include a sucrose hydrogen breath test in which an abnormally high level of hydrogen will be detected in the breath of an affected individual after sucrose ingestion.
How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. Sucraid is an oral medication containing the enzyme that does not work properly in people with this condition. By taking this medication, those with CSID can eat sucrose-containing foods because this enzyme will break down sucrose. This medication must be taken with each meal or snack.