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What is (are) Isolated levocardia ? | Isolated levocardia is a type of situs inversus where the heart is located in the normal position, but there is a mirror-image reversal of other internal organs. Isolated levocardia may occur alone or with heart defects, heart rhythm abnormalities (sick sinus syndrome or atrioventricular node disorder), spleen defects ... | |
How to diagnose Isolated levocardia ? | Has MRI or other tests been helpful in planning the care of infants prenatally diagnosed with isolated levocardia? Yes. In isolated levocardia it can be difficult to determine the position of the internal organs. Ultrasonography, CT, and MRI have been used alone and in combination to improve imaging of the internal org... | |
What is (are) Roberts syndrome ? | Roberts syndrome is a genetic disorder characterized by limb and facial abnormalities. Affected individuals are born with abnormalities of all four limbs and typically have shortened arm and leg bones (hypomelia). They may also have phocomelia (in severe cases); abnormal or missing fingers and toes; joint deformities (... | |
What are the symptoms of Roberts syndrome ? | What are the signs and symptoms of Roberts syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Roberts 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 ... | |
How to diagnose Roberts syndrome ? | How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. Limb malformations including bilateral, symmetric tetr... | |
What are the symptoms of Gonadal dysgenesis, XX type ? | What are the signs and symptoms of Gonadal dysgenesis, XX type? The Human Phenotype Ontology provides the following list of signs and symptoms for Gonadal dysgenesis, XX type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... | |
What are the symptoms of Palmer Pagon syndrome ? | What are the signs and symptoms of Palmer Pagon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Palmer Pagon 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 D... | |
What is (are) Laryngeal cleft ? | A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the e... | |
What are the symptoms of Laryngeal cleft ? | What are the signs and symptoms of Laryngeal cleft? The symptoms of laryngeal clefts range from mild stridor to significant difficulties with breathing and swallowing. Severity of symptoms depends on the severity of the cleft. Swallowing problems, a husky cry and feeding difficulties are common. Feeding often causes... | |
What causes Laryngeal cleft ? | What causes laryngeal cleft? During fetal development, the trachea and esophagus begin as one tube. They later separate when a wall of tissue known as the tracheoesophageal septum forms, dividing the original tube into the trachea and esophagus. If the tracheoesophageal septum fails to form, the trachea and esophagus... | |
What are the treatments for Laryngeal cleft ? | How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. Du... | |
What are the symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity ? | What are the signs and symptoms of Intrauterine growth retardation with increased mitomycin C sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Intrauterine growth retardation with increased mitomycin C sensitivity. If the information is available, the table below includes ... | |
What is (are) Ehlers-Danlos syndrome, dermatosparaxis type ? | Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, ... | |
What are the symptoms of Ehlers-Danlos syndrome, dermatosparaxis type ? | What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature... | |
What causes Ehlers-Danlos syndrome, dermatosparaxis type ? | What causes Ehlers-Danlos syndrome, dermatosparaxis type? Ehlers-Danlos syndrome (EDS), dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene. This gene encodes an enzyme that helps process several types of "procollagen molecules" (precursors of collagen). Collagen is a protein that provides structu... | |
Is Ehlers-Danlos syndrome, dermatosparaxis type inherited ? | Is Ehlers-Danlos syndrome, dermatosparaxis type inherited? Ehlers-Danlos syndrome, dermatosparaxis type is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry o... | |
How to diagnose Ehlers-Danlos syndrome, dermatosparaxis type ? | How is Ehlers-Danlos syndrome, dermatosparaxis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the ADAMTS2 gene and/or a skin biopsy can then be ordered to confirm the di... | |
What are the treatments for Ehlers-Danlos syndrome, dermatosparaxis type ? | How might Ehlers-Danlos syndrome, dermatosparaxis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), dermatosparaxis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with moderate to severe joint hy... | |
What are the symptoms of Kallmann syndrome 3 ? | What are the signs and symptoms of Kallmann syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 3. 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 Dicti... | |
What are the symptoms of Rhizomelic chondrodysplasia punctata type 3 ? | What are the signs and symptoms of Rhizomelic chondrodysplasia punctata type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic chondrodysplasia punctata type 3. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Inflammatory myofibroblastic tumor ? | An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the ... | |
What causes Inflammatory myofibroblastic tumor ? | What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been rep... | |
What are the symptoms of Imperforate oropharynx-costo vetebral anomalies ? | What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Plasmablastic lymphoma ? | Plasmablastic lymphoma is an aggressive form of non-Hodgkin lymphoma. Although the condition most commonly occurs in the oral cavity, it can be diagnosed in many other parts of the body such as the gastrointestinal tract, lymph nodes, and skin. The exact underlying cause of plasmablastic lymphoma is poorly understood; ... | |
What are the symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies ? | What are the signs and symptoms of Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis, distal, with hypopituitarism, intellectual disability and facial anomalies. If the information... | |
What is (are) Mnire's disease ? | Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop att... | |
What are the symptoms of Mnire's disease ? | What are the signs and symptoms of Mnire's disease? The symptoms of Mnire's disease typically occur suddenly and can arise daily, or as infrequently as once a year. Vertigo, often the most debilitating symptom of Mnire's disease, typically involves a whirling dizziness that forces the affected person to lie down. Verti... | |
What causes Mnire's disease ? | What causes Mnire's disease? The underlying cause of Mnire's disease is unknown, although it probably results from a combination of environmental and genetic factors. Possible factors that have been studied include viral infections; trauma to the middle ear; middle ear infection (otitis media); head injury; a hereditar... | |
How to diagnose Mnire's disease ? | How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imag... | |
What are the treatments for Mnire's disease ? | How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys reten... | |
What are the symptoms of Brachydactyly Mononen type ? | What are the signs and symptoms of Brachydactyly Mononen type? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly Mononen type. 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... | |
What is (are) Fibrolamellar carcinoma ? | Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, ... | |
What are the symptoms of Fibrolamellar carcinoma ? | What are the signs and symptoms of Fibrolamellar carcinoma? Many people with early fibrolamellar carcinoma (FLC) have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Some people affected by FLC may experience the following: Abdominal pain ... | |
What causes Fibrolamellar carcinoma ? | What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; ... | |
How to diagnose Fibrolamellar carcinoma ? | How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typ... | |
What are the treatments for Fibrolamellar carcinoma ? | How might fibrolamellar carcinoma be treated? The standard treatment for fibrolamellar carcinoma (FLC) is surgical resection. Due to the rarity of the condition, there is limited information to support the use of other treatment options and there is no standard chemotherapy regimen. However, other treatments may be con... | |
What is (are) Behr syndrome ? | Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person. Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Auto... | |
What are the symptoms of Behr syndrome ? | What are the signs and symptoms of Behr syndrome? People with Behr syndrome typically have visual disturbances (e.g. optic atrophy, nystagmus), ataxia, and spasticity. Other signs and symptoms that may be present in patients with Behr syndrome include intellectual disability, loss of bladder control, and variable pyram... | |
What causes Behr syndrome ? | What causes Behr syndrome? The exact cause of Behr syndrome is not known; however, a genetic cause is suspected based on the families identified, thus far. | |
What are the treatments for Behr syndrome ? | How might Behr syndrome be treated? Treatment is symptomatic. For instance, people who develop muscle contractures may have to undergo surgery. | |
What are the symptoms of Monomelic amyotrophy ? | What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. 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 Dic... | |
What are the symptoms of Spinal intradural arachnoid cysts ? | What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | |
What are the symptoms of Alpha-mannosidosis type 1 ? | What are the signs and symptoms of Alpha-mannosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-mannosidosis 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 M... | |
What is (are) Hansen's disease ? | Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes. After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions; muscle weakness or paralysis; eye problem... | |
What is (are) 1q21.1 microdeletion syndrome ? | 1q21.1 microdeletion syndrome is a newly described chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). It has been described in 46 patients to date. Some people with this deletion have no observable features; while others have v... | |
What are the symptoms of 1q21.1 microdeletion syndrome ? | What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion 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 Medli... | |
What are the symptoms of Renal tubular dysgenesis ? | What are the signs and symptoms of Renal tubular dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal tubular dysgenesis. 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 Med... | |
What are the symptoms of Osteodysplasia familial Anderson type ? | What are the signs and symptoms of Osteodysplasia familial Anderson type? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteodysplasia familial Anderson type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the symptoms of Charcot-Marie-Tooth disease type 2J ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2J? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2J. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | |
What is (are) Pyogenic granuloma ? | Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and ... | |
What is (are) Ullrich congenital muscular dystrophy ? | Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their ... | |
What are the symptoms of Ullrich congenital muscular dystrophy ? | What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | |
What are the treatments for Ullrich congenital muscular dystrophy ? | How might Ullrich muscular dystrophy be treated? Physical therapy, including early mobilization, regular stretching and splinting, is the main focus of supportive care. Respiratory support and night-time ventilation often becomes necessary in the first or second decade of life. Prevention of chest infections may be ach... | |
What are the symptoms of MORM syndrome ? | What are the signs and symptoms of MORM syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for MORM 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 loo... | |
What are the symptoms of Bifid nose with or without anorectal and renal anomalies ? | What are the signs and symptoms of Bifid nose with or without anorectal and renal anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Bifid nose with or without anorectal and renal anomalies. If the information is available, the table below includes how often the symptom is see... | |
What are the symptoms of Rhabdomyosarcoma alveolar ? | What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. 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 M... | |
What is (are) Glycogen storage disease type 6 ? | Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly. Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly whe... | |
What are the symptoms of Glycogen storage disease type 6 ? | What are the signs and symptoms of Glycogen storage disease type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 6. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | |
What is (are) Collagenous colitis ? | Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may ... | |
What are the symptoms of Collagenous colitis ? | What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. Episodes of diarrhea may be... | |
What are the treatments for Collagenous colitis ? | How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usu... | |
What is (are) Familial hypercholesterolemia ? | Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of exces... | |
What are the symptoms of Familial hypercholesterolemia ? | What are the signs and symptoms of Familial hypercholesterolemia? Signs and symptoms in individuals with the autosomal dominant form of familial hypercholesterolemia (FH), also called the heterozygous form, may include: Men who have FH may have heart attacks in their 40s to 50s, and 85% of men with the disorder have a ... | |
Is Familial hypercholesterolemia inherited ? | How is familial hypercholesterolemia inherited? Familial hypercholesterolemia (FH) is usually inherited in an autosomal dominant manner (in which case it is referred to as heterozygous FH). Individuals inherit two copies of each gene (one from each parent). In an autosomal dominant condition, having only one abnormal (... | |
What are the treatments for Familial hypercholesterolemia ? | How might familial hypercholesterolemia be treated? The overall goal of treatment for familial hypercholesterolemia (FH) is to lower the risk for atherosclerosis (build-up of plaque in the arteries) by lowering the LDL cholesterol levels in the blood stream. The first step in treatment for individuals with the heterozy... | |
What are the symptoms of Neutropenia chronic familial ? | What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | |
What is (are) Chromosome 2q deletion ? | Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | |
What are the symptoms of Brachycephalofrontonasal dysplasia ? | What are the signs and symptoms of Brachycephalofrontonasal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachycephalofrontonasal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | |
What are the symptoms of Juvenile idiopathic arthritis ? | What are the signs and symptoms of Juvenile idiopathic arthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile idiopathic arthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What are the symptoms of Metaphyseal chondrodysplasia Spahr type ? | What are the signs and symptoms of Metaphyseal chondrodysplasia Spahr type? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal chondrodysplasia Spahr type. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Severe congenital neutropenia autosomal dominant ? | What are the signs and symptoms of Severe congenital neutropenia autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe congenital neutropenia autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with... | |
What are the symptoms of Hair defect with photosensitivity and mental retardation ? | What are the signs and symptoms of Hair defect with photosensitivity and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Hair defect with photosensitivity and mental retardation. If the information is available, the table below includes how often the symptom is see... | |
What is (are) Noonan-like syndrome with loose anagen hair ? | Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and ... | |
What are the symptoms of Noonan-like syndrome with loose anagen hair ? | What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. If the information is available, the table below includes how often the symptom is seen in people with this cond... | |
What is (are) Gerstmann-Straussler-Scheinker disease ? | Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease, which is a group of conditions that affect the nervous system. Signs and symptoms generally develop between ages 35 and 50 years and may include progressive ataxia, cognitive dysfunction, slurred speech and spasticity. On average, people affected ... | |
What are the symptoms of Gerstmann-Straussler-Scheinker disease ? | What are the signs and symptoms of Gerstmann-Straussler-Scheinker disease? Signs and symptoms of Gerstmann-Straussler-Scheinker disease generally develop between ages 35 and 50 years. Affected people may experience: Progressive ataxia, including clumsiness, unsteadiness, and difficulty walking Cognitive disfunction lea... | |
What causes Gerstmann-Straussler-Scheinker disease ? | What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain... | |
Is Gerstmann-Straussler-Scheinker disease inherited ? | How is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) is 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 mut... | |
How to diagnose Gerstmann-Straussler-Scheinker disease ? | How is Gerstmann-Straussler-Scheinker disease diagnosed? The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following: Characteristic signs and symptoms Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cel... | |
What are the treatments for Gerstmann-Straussler-Scheinker disease ? | How might Gerstmann-Straussler-Scheinker disease be treated? The treatment of Gerstmann-Straussler-Scheinker disease (GSS) is based on the signs and symptoms present in each person. There is currently no cure for the condition and no known treatments to slow its progression. GeneReviews' Web site offers more specific i... | |
What are the symptoms of Seres-Santamaria Arimany Muniz syndrome ? | What are the signs and symptoms of Seres-Santamaria Arimany Muniz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seres-Santamaria Arimany Muniz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | |
What are the symptoms of Akesson syndrome ? | What are the signs and symptoms of Akesson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson 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 ... | |
What is (are) 47 XXX syndrome ? | 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls ... | |
What are the symptoms of 47 XXX syndrome ? | What are the signs and symptoms of 47 XXX syndrome? Many women with 47 XXX syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced. Females with 47 XXX syndrome may be taller than average, but the condition usually does not cause unusual physical features. Minor physical finding... | |
Is 47 XXX syndrome inherited ? | Is 47 XXX syndrome inherited? Most cases of 47 XXX syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For... | |
How to diagnose 47 XXX syndrome ? | How is 47 XXX syndrome diagnosed? 47 XXX syndrome may first be suspected based on the presence of certain developmental, behavioral or learning disabilities in an individual. The diagnosis can be confirmed with chromosomal analysis (karyotyping), which can be performed on a blood sample. This test would reveal the pres... | |
What are the treatments for 47 XXX syndrome ? | How might 47 XXX syndrome be treated? There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, an... | |
What are the symptoms of Richieri Costa Da Silva syndrome ? | What are the signs and symptoms of Richieri Costa Da Silva syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Richieri Costa Da Silva 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... | |
What is (are) Leukoencephalopathy with vanishing white matter ? | Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symp... | |
What are the symptoms of Leukoencephalopathy with vanishing white matter ? | What are the signs and symptoms of Leukoencephalopathy with vanishing white matter? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What causes Leukoencephalopathy with vanishing white matter ? | What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This... | |
Is Leukoencephalopathy with vanishing white matter inherited ? | How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one m... | |
What are the treatments for Leukoencephalopathy with vanishing white matter ? | How might leukoencephalopathy with vanishing white matter be treated? Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications f... | |
What are the symptoms of Mental retardation X-linked, South African type ? | What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. If the information is available, the table below includes how often the symptom is seen in people with t... | |
What is (are) Lysinuric protein intolerance ? | Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting... | |
What are the symptoms of Lysinuric protein intolerance ? | What are the signs and symptoms of Lysinuric protein intolerance? The Human Phenotype Ontology provides the following list of signs and symptoms for Lysinuric protein intolerance. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... | |
What are the symptoms of Hereditary congenital facial paresis ? | What are the signs and symptoms of Hereditary congenital facial paresis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary congenital facial paresis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... | |
What is (are) Chronic hiccups ? | Chronic hiccups are unintentional movements (spasms) of the diaphragm followed by rapid closure of the vocal cords that persist for an extended period of time. Hiccups often develop for no apparent reason and typically go away on their own after a couple minutes. However, chronic hiccups last over two days and in rare ... | |
What are the symptoms of Chronic hiccups ? | What are the signs and symptoms of Chronic hiccups? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic hiccups. 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... | |
What causes Chronic hiccups ? | What causes chronic hiccups? Although the exact underlying cause of chronic hiccups is often unknown, many factors can contribute to the development of hiccups. For example, common triggers for hiccups include hot or spicy foods and liquids; harmful fumes; surgery; and/or certain medications. Chronic hiccups can also b... |
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