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What are the symptoms of Buerger disease ? | What are the signs and symptoms of Buerger disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Buerger disease. 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 Buerger disease ? | What causes Buerger disease? Buerger disease has a strong relationship to cigarette smoking. This association may be due to direct poisioning of cells from some component of tobacco, or by hypersensitivity to the same components. Many people with Buerger disease will show hypersensitivities to injection of tobacco extr... |
What are the treatments for Buerger disease ? | How is Buerger disease treated? Currently there is not a cure for Buerger disease, however there are treatments that can help control it. The most essential part of treatment is to avoid all tobacco and nicotine products. Even one cigarette a day can worsen the disease. A doctor can help a person with Buerger disease l... |
What are the symptoms of Carney triad ? | What are the signs and symptoms of Carney triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney triad. 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 ... |
What are the symptoms of Holocarboxylase synthetase deficiency ? | What are the signs and symptoms of Holocarboxylase synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Holocarboxylase synthetase deficiency. 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 Pelizaeus-Merzbacher-like disease ? | What are the signs and symptoms of Pelizaeus-Merzbacher-like disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Pelizaeus-Merzbacher-like disease. 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 Fitzsimmons-Guilbert syndrome ? | What are the signs and symptoms of Fitzsimmons-Guilbert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fitzsimmons-Guilbert 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 is (are) Dermatitis herpetiformis ? | Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms m... |
What are the symptoms of Dermatitis herpetiformis ? | What are the signs and symptoms of Dermatitis herpetiformis ? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatitis herpetiformis . 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 are the treatments for Dermatitis herpetiformis ? | How might dermatitis herpetiformis be treated? The antibiotic dapsone is extremely effective in treating this condition. Symptomatic improvement may occur in as little as several hours after the first dose. However, dapsone may cause serious side effects and requires regular monitoring by a physician. When this medicat... |
What is (are) Osteogenesis imperfecta type III ? | Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are co... |
What are the symptoms of Osteogenesis imperfecta type III ? | What are the signs and symptoms of Osteogenesis imperfecta type III? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteogenesis imperfecta type III. 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 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 are the symptoms of Camptodactyly taurinuria ? | What are the signs and symptoms of Camptodactyly taurinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly taurinuria. 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 Waardenburg syndrome type 2A ? | What are the signs and symptoms of Waardenburg syndrome type 2A? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2A. 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) Merkel cell carcinoma ? | Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomav... |
What causes Merkel cell carcinoma ? | What causes Merkel cell carcinoma? The exact underlying cause of Merkel cell carcinoma (MCC) is unknown, but several risk factors have been associated with the development of MCC. Having one or more risk factors does not mean that a person will develop MCC; most individuals with risk factors will not develop MCC. Risk ... |
Is Merkel cell carcinoma inherited ? | Is Merkel cell carcinoma inherited? To our knowledge, there currently is no evidence that Merkel cell carcinoma (MCC) is inherited. While DNA changes (mutations) found in the cells of MCC tumors can lead to MCC, these types of mutations are not inherited from a person's parents. They are referred to as somatic mutation... |
What is (are) Osteopetrosis autosomal recessive 3 ? | Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder ... |
What are the symptoms of Osteopetrosis autosomal recessive 3 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 3. 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) Lesch Nyhan syndrome ? | Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous s... |
What are the symptoms of Lesch Nyhan syndrome ? | What are the signs and symptoms of Lesch Nyhan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lesch Nyhan 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 Dic... |
Is Lesch Nyhan syndrome inherited ? | How is Lesch Nyhan syndrome inherited? Lesch Nyhan syndrome is inherited in an X-linked recessive manner. A condition is X-linked if the changed (mutated) gene responsible for the condition is located on the X chromosome. The X chromosome is one of the two sex chromosomes; females have two X chromosomes, and males have... |
What is (are) Richter syndrome ? | Richter syndrome is a rare condition in which chronic lymphocytic leukemia (CLL) changes into a fast-growing type of lymphoma. Symptoms of Richter syndrome can include fever, loss of weight and muscle mass, abdominal pain, and enlargement of the lymph nodes, liver, and spleen. Laboratory results may show anemia and low... |
What are the treatments for Richter syndrome ? | Are there any recent advancements in the treatment of Richter syndrome? Monoclonal antibodies (MABs) are a type of biological therapy. They are man-made proteins that target specific proteins on cancer cells. MABs are a fairly new treatment for cancer. Doctors often use the MAB drug called rituximab along with chemoth... |
What is (are) Hemochromatosis ? | Hemochromatosis is a condition in which too much iron builds up in the body (iron overload). Accumulation of iron in the organs is toxic and can result in organ failure. While many organs can be affected, it may especially affect the liver, heart, and pancreas. Symptoms of hemochromatosis tend to develop gradually and ... |
What are the symptoms of Hemochromatosis ? | What are the signs and symptoms of Hemochromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis. 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 Hemochromatosis ? | What causes hemochromatosis? The underlying cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form. Hereditary hemochromatosis is caused by mutations in any of several genes: type 1 hemochromatosis - the HFE gene type 2 hemochromatosis - either the HFE2 or HAM... |
Is Hemochromatosis inherited ? | Is hemochromatosis inherited? Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on the type a person has. Types 1, 2, and 3 are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsi... |
What is (are) McCune Albright syndrome ? | McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and... |
What are the symptoms of McCune Albright syndrome ? | What are the signs and symptoms of McCune Albright syndrome? People with McCune Albright syndrome (MAS) may have symptoms related to bones, the endocrine system, and/or skin. The symptoms can range from mild to severe. Bone symptoms may include: Polyostotic fibrous dysplasia: This is when normal bone is replaced by sof... |
What causes McCune Albright syndrome ? | What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that ... |
Is McCune Albright syndrome inherited ? | Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenom... |
What are the treatments for McCune Albright syndrome ? | How might McCune Albright syndrome be treated? Although there is no cure for McCune Albright syndrome (MAS), drug treatments may help some of the endocrine symptoms, and surgery can help repair some of the bone problems. Generally, treatment depends on what tissues are affected as well as the severity. Surgery may be n... |
What are the symptoms of Penoscrotal transposition ? | What are the signs and symptoms of Penoscrotal transposition? The Human Phenotype Ontology provides the following list of signs and symptoms for Penoscrotal transposition. 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) Polyglucosan body disease, adult ? | Polyglucosan body disease affects the nervous system. Individuals with this condition usually begin to show signs of the disorder after the age of 40. Signs and symptoms include trouble walking due to decreased sensation in the legs (peripheral neuropathy) and muscle weakness and stiffness (spasticity). Individuals may... |
What are the symptoms of Polyglucosan body disease, adult ? | What are the signs and symptoms of Polyglucosan body disease, adult? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyglucosan body disease, adult. 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 are the symptoms of Limb-girdle muscular dystrophy type 2H ? | What are the signs and symptoms of Limb-girdle muscular dystrophy type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What is (are) Pediatric Crohn's disease ? | Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, ... |
What is (are) Primary carnitine deficiency ? | Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction... |
What are the symptoms of Primary carnitine deficiency ? | What are the signs and symptoms of Primary carnitine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Primary carnitine 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 Medline... |
What causes Primary carnitine deficiency ? | What causes primary carnitine deficiency? Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-pr... |
Is Primary carnitine deficiency inherited ? | How is primary carnitine deficiency inherited? Primary carnitine deficiency is inherited in an autosomal recessive manner. Individuals have two copies of each gene, one of which is inherited from each parent. For an individual to have an autosomal recessive condition, he/she must have a mutation in both copies of the d... |
What are the treatments for Primary carnitine deficiency ? | How might primary carnitine deficiency be treated? Most individuals with primary carnitine deficiency are followed by a metabolic doctor as well as a dietician familiar with this condition. Certain treatments may be advised for some children but not others. Treatment is often needed throughout life. The main treatment ... |
What is (are) Early Infantile Epileptic Encephalopathy ? | Ohtahara syndrome is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally ... |
What is (are) Eosinophilic enteropathy ? | Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function ... |
What are the symptoms of Eosinophilic enteropathy ? | What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach c... |
How to diagnose Eosinophilic enteropathy ? | How is eosinophilic enteropathy diagnosed? Endoscopy and biopsy is the only way to confirm the diagnosis of eosinophilic enteropathy. During an endoscopy, a gastroenterologist looks at the gastrointestinal tract through an endoscope and takes multiple small samples (biopsies), which a pathologist reviews. A high number... |
What are the treatments for Eosinophilic enteropathy ? | How might eosinophilic enteropathy be treated? There is no "cure" for eosinophilic enteropathy, but treatment can help alleviate symptoms and prevent further damage to the gastrointestinal tract. Treatment of eosinophilic enteropathy varies based on the location of the eosinophils, severity of symptoms, and other medic... |
What are the symptoms of Lowry Wood syndrome ? | What are the signs and symptoms of Lowry Wood syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lowry Wood 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 Dicti... |
What are the symptoms of Deafness oligodontia syndrome ? | What are the signs and symptoms of Deafness oligodontia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness oligodontia 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 is (are) Lentigo maligna melanoma ? | Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinned adults. The average age of diagnosis is 65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. |
What is (are) Sturge-Weber syndrome ? | Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other featur... |
What are the symptoms of Sturge-Weber syndrome ? | What are the signs and symptoms of Sturge-Weber syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sturge-Weber 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 are the treatments for Sturge-Weber syndrome ? | What are some of the benefits and risks of laser treatment for port-wine stains associated with Sturge-Weber syndrome? Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain (PWS). Laser treatment of port-wine stains may produce good cosmetic results, with a low incid... |
What are the symptoms of Kuster Majewski Hammerstein syndrome ? | What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein syndrome. 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) Craniopharyngioma ? | A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adul... |
What are the symptoms of Craniopharyngioma ? | What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiti... |
What causes Craniopharyngioma ? | What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamo... |
What are the treatments for Craniopharyngioma ? | How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary. If the tumo... |
What is (are) Split hand split foot nystagmus ? | Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with... |
What are the symptoms of Split hand split foot nystagmus ? | What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fu... |
Is Split hand split foot nystagmus inherited ? | How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Some... |
What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? | What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. If the information is available, the table bel... |
What is (are) Factor XI deficiency ? | Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heav... |
What are the symptoms of Factor XI deficiency ? | What are the signs and symptoms of Factor XI deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Factor XI 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 Dic... |
What is (are) Juvenile primary lateral sclerosis ? | Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. This disorder damages motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms begin in early childhood and progre... |
What are the symptoms of Juvenile primary lateral sclerosis ? | What are the signs and symptoms of Juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress over a period of 1... |
What causes Juvenile primary lateral sclerosis ? | What causes juvenile primary lateral sclerosis? Juvenile primary lateral sclerosis is caused by mutations in the ALS2 gene. The ALS2 gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructio... |
Is Juvenile primary lateral sclerosis inherited ? | How is juvenile primary lateral sclerosis inherited? Juvenile primary lateral sclerosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they ty... |
What are the symptoms of Cataract, posterior polar, 1 ? | What are the signs and symptoms of Cataract, posterior polar, 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract, posterior polar, 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 Medline... |
What are the symptoms of Multiple endocrine neoplasia type 2B ? | What are the signs and symptoms of Multiple endocrine neoplasia type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2B. 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) Emanuel syndrome ? | Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects... |
What are the symptoms of Emanuel syndrome ? | What are the signs and symptoms of Emanuel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Emanuel 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) Currarino triad ? | Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities (abnormally developed lower spine), anorectal malformation (most commonly in the form of anorectal stenosis) and presacral mass consisting of a teratoma, anterior sacral meningo... |
What are the symptoms of Currarino triad ? | What are the signs and symptoms of Currarino triad? The Human Phenotype Ontology provides the following list of signs and symptoms for Currarino triad. 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 Currarino triad ? | What causes Currarino triad? Currarino triad is caused by mutations in the MNX1 gene in nearly all familial and 30% of sporadic cases. These mutations in the gene are called loss of function mutations because the gene can no longer produce working (functional) protein. Less frequently, a complex phenotype of Currarino ... |
Is Currarino triad inherited ? | How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In ... |
What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly ? | What are the signs and symptoms of Thumb deformity, alopecia, pigmentation anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb deformity, alopecia, pigmentation anomaly. If the information is available, the table below includes how often the symptom is seen in people with t... |
What is (are) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? | DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young ch... |
What are the symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ? | What are the signs and symptoms of DICER1-related pleuropulmonary blastoma cancer predisposition syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome. If the information is available, the table below includes ... |
What is (are) Long QT syndrome 1 ? | Romano-Ward syndrome is the most common form of inherited long QT syndrome. Symptoms include arrhythmia, fainting, cardiac arrest, and sudden death. There are six different types of this syndrome, long QT 1 through 6. Each type is caused by a change in a different gene. The most prevalent form of long QT syndrome is lo... |
What are the symptoms of Long QT syndrome 1 ? | What are the signs and symptoms of Long QT syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 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 Diction... |
What are the symptoms of Macrothrombocytopenia progressive deafness ? | What are the signs and symptoms of Macrothrombocytopenia progressive deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Macrothrombocytopenia progressive deafness. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ? | What are the signs and symptoms of Lethal short limb skeletal dysplasia Al Gazali type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali type. If the information is available, the table below includes how often the symptom is seen in peopl... |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 1 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 1. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What is (are) Adult-onset vitelliform macular dystrophy ? | Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging t... |
What are the symptoms of Adult-onset vitelliform macular dystrophy ? | What are the signs and symptoms of Adult-onset vitelliform macular dystrophy? Signs and symptoms of adult-onset vitelliform macular dystrophy typically begin during mid-adulthood, in the fourth or fifth decade of life. At the time of diagnosis, individuals may have minimal visual symptoms (such as mild blurring) or mil... |
What causes Adult-onset vitelliform macular dystrophy ? | What causes adult-onset vitelliform dystrophy? Historically, adult-onset vitelliform macular dystrophy (AVMD) was defined as a genetic disorder; however, recent studies have concluded that only a minority of cases have an identified genetic cause, suggesting that there might be other underlying causes of environmental ... |
Is Adult-onset vitelliform macular dystrophy inherited ? | How is adult-onset vitelliform macular dystrophy inherited? The majority of cases with an identified family history or genetic cause are inherited in an autosomal dominant manner. This means that in order to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some c... |
What are the treatments for Adult-onset vitelliform macular dystrophy ? | How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. Int... |
What is (are) Adult-onset Still's disease ? | Adult-onset Still's disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still's disease may lead to chronic arthritis and other complications. Still's disease was named after an English doctor named George Still, who described the condition... |
What are the symptoms of Adult-onset Still's disease ? | What are the signs and symptoms of Adult-onset Still's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Adult-onset Still's disease. 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 causes Adult-onset Still's disease ? | What causes adult-onset Still's disease? The cause of adult-onset Stills disease is unknown. Some hypothesize that the condition results from or is triggered by a virus or other infectious agent. Others believe that it is a hypersensitive or autoimmune disorder. To date, no conclusive evidence has been found to prove o... |
What is (are) Pyoderma gangrenosum ? | Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, ... |
What are the symptoms of Pyoderma gangrenosum ? | What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. 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 treatments for Pyoderma gangrenosum ? | How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best docum... |
What are the symptoms of Atrial septal defect ostium primum ? | What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... |
What is (are) 2,4-Dienoyl-CoA reductase deficiency ? | 2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance. |
What are the symptoms of 2,4-Dienoyl-CoA reductase deficiency ? | What are the signs and symptoms of 2,4-Dienoyl-CoA reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for 2,4-Dienoyl-CoA reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
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