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What are the symptoms of Cowden syndrome ? | What are the signs and symptoms of Cowden syndrome? Cowden syndrome is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body. Approximately 99% of people affected by Cowden syndrome will have benign growths on the skin and/or in the mouth by the third decade of life.... | Cowden syndrome |
What causes Cowden syndrome ? | What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in PTEN result in a defective protein that... | Cowden syndrome |
Is Cowden syndrome inherited ? | How is Cowden syndrome inherited? Cowden syndrome 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 mutation from an affected parent. Other cases may resul... | Cowden syndrome |
How to diagnose Cowden syndrome ? | How is Cowden syndrome diagnosed? A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not identified, genetic testing for the other genes known to cau... | Cowden syndrome |
What are the treatments for Cowden syndrome ? | How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Can... | Cowden syndrome |
What is (are) Blue cone monochromatism ? | Blue cone monochromatism is an inherited X-linked vision disorder. In this condition both red and green cone sensitivities are absent, however rod function and blue cone sensitivities are present. Signs and symptoms include severely reduced visual acuity (clearnes), eccentric fixation, infantile nystagmus that decrease... | Blue cone monochromatism |
What are the symptoms of Blue cone monochromatism ? | What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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... | Blue cone monochromatism |
What is (are) Hairy cell leukemia ? | Hairy cell leukemia is a rare, slow-growing cancer of the blood in which the bone marrow makes too many B cells (lymphocytes), a type of white blood cell that fights infection. The condition is named after these excess B cells which look 'hairy' under a microscope. As the number of leukemia cells increases, fewer healt... | Hairy cell leukemia |
What are the symptoms of Preaxial polydactyly type 1 ? | What are the signs and symptoms of Preaxial polydactyly type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Preaxial polydactyly 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 MedlinePl... | Preaxial polydactyly type 1 |
What is (are) Barrett esophagus ? | Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-t... | Barrett esophagus |
What are the symptoms of Barrett esophagus ? | What are the signs and symptoms of Barrett esophagus? In people affected by Barrett esophagus, the tissue lining the esophagus (the tube connecting the mouth to the stomach) is replaced by cells that are similar to those found in the lining of the intestines. This change does not cause any specific signs or symptoms. H... | Barrett esophagus |
What causes Barrett esophagus ? | What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may dec... | Barrett esophagus |
Is Barrett esophagus inherited ? | Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination... | Barrett esophagus |
How to diagnose Barrett esophagus ? | How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to deter... | Barrett esophagus |
What are the treatments for Barrett esophagus ? | How might Barrett esophagus be treated? The treatment of Barrett esophagus largely depends on the severity of the condition as determined by the level of dysplasia seen on biopsy. In people with no dysplasia or low-grade dysplasia, treatment is often focused on easing the signs and symptoms of gastroesophageal reflux d... | Barrett esophagus |
What is (are) Non-A-E hepatitis ? | Non-A-E hepatitis, sometimes referred to as hepatitis X, is a disease of the liver that is diagnosed when there is swelling of the liver (hepatitis) but examination and testing does not identify a cause. Symptoms of non-A-E hepatitis may include feeling tired or unwell (malaise), nausea, vomiting, pain in the abdomen,... | Non-A-E hepatitis |
What are the symptoms of Negative rheumatoid factor polyarthritis ? | What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Negative rheumatoid factor polyarthritis |
What is (are) Menkes disease ? | Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. Additional signs and symptoms may be present. Children with Menkes syndrome typically begin to develop very severe symptoms during infan... | Menkes disease |
What are the symptoms of Menkes disease ? | What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes 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 l... | Menkes disease |
What are the symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation ? | What are the signs and symptoms of Spastic quadriplegia retinitis pigmentosa mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic quadriplegia retinitis pigmentosa mental retardation. If the information is available, the table below includes how often the sympto... | Spastic quadriplegia retinitis pigmentosa mental retardation |
What are the symptoms of Pyridoxal 5'-phosphate-dependent epilepsy ? | What are the signs and symptoms of Pyridoxal 5'-phosphate-dependent epilepsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyridoxal 5'-phosphate-dependent epilepsy. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Pyridoxal 5'-phosphate-dependent epilepsy |
What is (are) Complete androgen insensitivity syndrome ? | Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female b... | Complete androgen insensitivity syndrome |
What are the symptoms of Complete androgen insensitivity syndrome ? | What are the signs and symptoms of Complete androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Complete androgen insensitivity syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition.... | Complete androgen insensitivity syndrome |
What are the symptoms of Hypocalcemia, autosomal dominant ? | What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | Hypocalcemia, autosomal dominant |
What is (are) Isolated ectopia lentis ? | Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism... | Isolated ectopia lentis |
What are the symptoms of Isolated ectopia lentis ? | What are the signs and symptoms of Isolated ectopia lentis? The Human Phenotype Ontology provides the following list of signs and symptoms for Isolated ectopia lentis. 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 Medic... | Isolated ectopia lentis |
What is (are) Hypolipoproteinemia ? | Hypolipoproteinemia refers to unusually low levels of fats (lipids) in the blood. Low lipid levels may be caused by rare genetic conditions, or be a sign of another disorder such as overactive thyroid, anemia, undernutrition, cancer, chronic infection, or impaired absorption of foods from the digestive tract. Associate... | Hypolipoproteinemia |
What are the symptoms of Hypolipoproteinemia ? | Are there other symptoms associated with hypolipoproteinemia? Some reports suggest that hypolipoproteinemia (low cholesterol levels) in general may increase the risk for development of fatty livers. | Hypolipoproteinemia |
What causes Hypolipoproteinemia ? | What causes familial or genetic hypolipoproteinemia? Cholesterol levels in general are thought to be influenced by genetic factors. Very low levels of lipids (hypolipoproteinemia) is known to be caused by certain genetic conditions, including hypobetalipoproteinemia, abetalipoproteinemia, and chylomicron retention dise... | Hypolipoproteinemia |
What is (are) Cronkhite-Canada disease ? | Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripher... | Cronkhite-Canada disease |
What are the symptoms of Cronkhite-Canada disease ? | What are the signs and symptoms of Cronkhite-Canada disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cronkhite-Canada 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 Med... | Cronkhite-Canada disease |
What is (are) Acute febrile neutrophilic dermatosis ? | Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, ... | Acute febrile neutrophilic dermatosis |
What are the symptoms of Acute febrile neutrophilic dermatosis ? | What are the signs and symptoms of Acute febrile neutrophilic dermatosis? The most obvious signs of acute febrile neutrophilic dermatosis are distinctive skin lesions that usually develop according to a specific pattern. Typically, a series of small red bumps appear suddenly on the back, neck, arms and face, often afte... | Acute febrile neutrophilic dermatosis |
What causes Acute febrile neutrophilic dermatosis ? | What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disord... | Acute febrile neutrophilic dermatosis |
What are the treatments for Acute febrile neutrophilic dermatosis ? | How might acute febrile neutrophilic dermatosis be treated? Left untreated, acute febrile neutrophilic dermatosis not associated with a more serious condition may disappear on its own within one to three months. Medications can improve skin lesions and associated symptoms in just two or three days, with the worst of t... | Acute febrile neutrophilic dermatosis |
What is (are) Hemochromatosis type 4 ? | Hemochromatosis type 4 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene. Hemochromatosis may be aquired or hereditary. Hereditary hemochr... | Hemochromatosis type 4 |
What are the symptoms of Hemochromatosis type 4 ? | What are the signs and symptoms of Hemochromatosis type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 4. 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... | Hemochromatosis type 4 |
What is (are) Blount disease ? | Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia... | Blount disease |
What are the symptoms of Blount disease ? | What are the signs and symptoms of Blount disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Blount 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 l... | Blount disease |
What is (are) Wiedemann-Steiner syndrome ? | Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases resul... | Wiedemann-Steiner syndrome |
What are the symptoms of Wiedemann-Steiner syndrome ? | What are the signs and symptoms of Wiedemann-Steiner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wiedemann-Steiner 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... | Wiedemann-Steiner syndrome |
What is (are) Syndrome of inappropriate antidiuretic hormone ? | Syndrome of inappropriate antidiuretic hormone (SIADH) occurs when an excessive amount of antidiuretic hormone is released resulting in water retention and a low sodium level. It is most common among older people. It has many causes including, but not limited too, pain, stress, exercise, a low blood sugar level, certai... | Syndrome of inappropriate antidiuretic hormone |
What are the symptoms of Syndrome of inappropriate antidiuretic hormone ? | What are the signs and symptoms of Syndrome of inappropriate antidiuretic hormone? Symptoms of syndrome of inappropriate antidiuretic hormone include water retention and low sodium level. Low sodium levels may cause lethargy and confusion. Severe low levels of sodium in the body may cause muscle twitching, seizures, st... | Syndrome of inappropriate antidiuretic hormone |
What causes Syndrome of inappropriate antidiuretic hormone ? | What causes syndrome of inappropriate antidiuretic hormone? Many things can cause syndrome of inappropriate antidiuretic hormone (SIADH), including brain injury, brain infection, brain abscesses, subarachnoid hemorrhage, encephalitis, meningitis, Guillain-Barr syndrome, delirium tremens, multiple sclerosis, lung cancer... | Syndrome of inappropriate antidiuretic hormone |
What are the treatments for Syndrome of inappropriate antidiuretic hormone ? | How might the syndrome of inappropriate antidiuretic hormone be treated? Treatment of syndrome of inappropriate antidiuretic hormone (SIADH) may involve fluid restriction, treatment of the underlying cause once determined, and medication that decreases the effect of antidiuretic hormone on the kidneys. | Syndrome of inappropriate antidiuretic hormone |
What are the symptoms of Amelogenesis imperfecta local hypoplastic ? | What are the signs and symptoms of Amelogenesis imperfecta local hypoplastic? The Human Phenotype Ontology provides the following list of signs and symptoms for Amelogenesis imperfecta local hypoplastic. If the information is available, the table below includes how often the symptom is seen in people with this conditio... | Amelogenesis imperfecta local hypoplastic |
What are the symptoms of Maple syrup urine disease type 1A ? | What are the signs and symptoms of Maple syrup urine disease type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Maple syrup urine disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Maple syrup urine disease type 1A |
What are the symptoms of Focal palmoplantar and gingival keratoderma ? | What are the signs and symptoms of Focal palmoplantar and gingival keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal palmoplantar and gingival keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Focal palmoplantar and gingival keratoderma |
What is (are) Gray zone lymphoma ? | Gray zone lymphoma is a cancer of the immune system. The name of this lymphoma refers to the fact that cancer cells in this condition are in a "gray zone" (an uncertain category) because they appear similar to that of two other types of lymphoma, classical Hodgkin lymphoma and mediastinal large B-cell lymphoma. Becau... | Gray zone lymphoma |
What are the treatments for Gray zone lymphoma ? | How might gray zone lymphoma be treated? Gray zone lymphoma shares features with two other types of lymphoma, classical Hodgkin lymphoma (cHL) and mediastinal large B-cell lymphoma (MLBCL). Because MLBCL and cHL are treated differently, it is unclear how gray zone lymphoma should be treated. At this time, there are n... | Gray zone lymphoma |
What is (are) Neuroacanthocytosis ? | Neuroacanthocytosis (NA) refers to a group of genetic disorders that are characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. The onset, severity and specific physical findings vary depending upon the specific type of NA present. Signs and sym... | Neuroacanthocytosis |
What are the treatments for Neuroacanthocytosis ? | How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medic... | Neuroacanthocytosis |
What are the symptoms of 8p23.1 duplication syndrome ? | What are the signs and symptoms of 8p23.1 duplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8p23.1 duplication 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 MedlinePl... | 8p23.1 duplication syndrome |
What is (are) Churg Strauss syndrome ? | Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin... | Churg Strauss syndrome |
What are the symptoms of Churg Strauss syndrome ? | What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosino... | Churg Strauss syndrome |
What are the symptoms of Bone dysplasia lethal Holmgren type ? | What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | Bone dysplasia lethal Holmgren type |
What is (are) Hemochromatosis type 1 ? | Hemochromatosis type 1 is a disease in which too much iron builds up in the body. This extra iron is toxic to the body and can damage the organs. Hemochromatosis type 1 is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. Early symptoms of hemochromatosis are... | Hemochromatosis type 1 |
What are the symptoms of Hemochromatosis type 1 ? | What are the signs and symptoms of Hemochromatosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical... | Hemochromatosis type 1 |
What are the treatments for Hemochromatosis type 1 ? | How might hemochromatosis type 1 be treated? Treatment for hemochromatosis might include phlebotomy, iron chelation therapy, dietary changes, and treatment for complications.The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, treat complic... | Hemochromatosis type 1 |
What are the symptoms of Leber congenital amaurosis 5 ? | What are the signs and symptoms of Leber congenital amaurosis 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 5. 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... | Leber congenital amaurosis 5 |
What is (are) Children's interstitial lung disease ? | Children's interstitial and diffuse lung disease (chILD) is not a single condition, but a group of rare lung diseases found in infants, children and adolescents that can range from mild to severe. All types of chILD decrease a child's ability to supply oxygen to their body. These diseases make it difficult for the lu... | Children's interstitial lung disease |
What are the treatments for Children's interstitial lung disease ? | How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent ... | Children's interstitial lung disease |
What are the symptoms of Spranger Schinzel Myers syndrome ? | What are the signs and symptoms of Spranger Schinzel Myers syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Spranger Schinzel Myers 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... | Spranger Schinzel Myers syndrome |
What is (are) Human T-cell leukemia virus type 2 ? | Human T-cell leukemia virus, type 2 (HTLV-2) is a retroviral infection that affect the T cells (a type of white blood cell). Although this virus generally causes no signs or symptoms, scientists suspect that some affected people may later develop neurological problems and/or chronic lung infections. HTLV-2 is spread by... | Human T-cell leukemia virus type 2 |
What are the symptoms of Human T-cell leukemia virus type 2 ? | What are the signs and symptoms of human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) generally causes no signs or symptoms. Although HTLV-2 has not been definitively linked with any specific health problems, scientists suspect that some affected people may later develop neurological prob... | Human T-cell leukemia virus type 2 |
What causes Human T-cell leukemia virus type 2 ? | What causes human T-cell leukemia virus, type 2? Human T-cell leukemia virus, type 2 (HTLV-2) occurs when a person is infected by the human T-cell leukemia retrovirus. HTLV-2 is spread by blood transfusions, sexual contact and sharing needles. It can also be spread from mother to child during birth or breast-feeding. I... | Human T-cell leukemia virus type 2 |
How to diagnose Human T-cell leukemia virus type 2 ? | How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may oc... | Human T-cell leukemia virus type 2 |
What are the treatments for Human T-cell leukemia virus type 2 ? | How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the numb... | Human T-cell leukemia virus type 2 |
What is (are) Parsonage Turner syndrome ? | Parsonage Turner syndrome is characterized by the sudden onset of shoulder and upper arm pain followed by progressive (worsening over time) weakness and/or atrophy of the affected area. Although the exact cause is unknown, researchers believe that most cases are due to an autoimmune response following exposure to an il... | Parsonage Turner syndrome |
What are the symptoms of Parsonage Turner syndrome ? | What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. R... | Parsonage Turner syndrome |
What causes Parsonage Turner syndrome ? | What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to... | Parsonage Turner syndrome |
Is Parsonage Turner syndrome inherited ? | Is Parsonage Turner syndrome inherited? Parsonage Turner syndrome, which is also known as idiopathic neuralgic amyotrophy, is not inherited. However, an inherited form of neuralgic amyotrophy does exist, which is passed down through families in an autosomal dominant manner. For more information on hereditary neuralgic ... | Parsonage Turner syndrome |
How to diagnose Parsonage Turner syndrome ? | How is Parsonage Turner syndrome diagnosed? A diagnosis of Parsonage Turner syndrome (PTS) is often suspected based on the presence of characteristic signs and symptoms. Specialized tests may be recommended to further investigate the shoulder pain and/or muscle weakness and to rule out other conditions that can cause s... | Parsonage Turner syndrome |
What are the treatments for Parsonage Turner syndrome ? | How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or co... | Parsonage Turner syndrome |
What is (are) Graves' disease ? | Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism). It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism and occurs most often in women ov... | Graves' disease |
What are the symptoms of Graves' disease ? | What are the signs and symptoms of Graves' disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Graves' 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... | Graves' disease |
What are the symptoms of Osteopenia and sparse hair ? | What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. 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... | Osteopenia and sparse hair |
What are the symptoms of Charlie M syndrome ? | What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M 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 Diction... | Charlie M syndrome |
What are the symptoms of Chromosome 8p23.1 deletion ? | What are the signs and symptoms of Chromosome 8p23.1 deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 8p23.1 deletion. 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... | Chromosome 8p23.1 deletion |
What is (are) Polymicrogyria ? | Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; how... | Polymicrogyria |
What is (are) Agenesis of the dorsal pancreas ? | Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively). Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes ... | Agenesis of the dorsal pancreas |
What are the symptoms of Agenesis of the dorsal pancreas ? | What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. 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... | Agenesis of the dorsal pancreas |
What causes Agenesis of the dorsal pancreas ? | What causes agenesis of the dorsal pancreas? Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may... | Agenesis of the dorsal pancreas |
What are the treatments for Agenesis of the dorsal pancreas ? | How might agenesis of the dorsal pancreas be treated? Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the si... | Agenesis of the dorsal pancreas |
What is (are) Pseudoachondroplasia ? | 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. Pseudo... | Pseudoachondroplasia |
What are the symptoms of Pseudoachondroplasia ? | What are the signs and symptoms of Pseudoachondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoachondroplasia. 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... | Pseudoachondroplasia |
Is Pseudoachondroplasia inherited ? | How is pseudoachondroplasia inherited? Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means having one altered copy of the COMP gene in each cell is enough to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new muta... | Pseudoachondroplasia |
What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? | What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people ... | Mandibuloacral dysplasia with type A lipodystrophy |
What is (are) Complement component 2 deficiency ? | Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years... | Complement component 2 deficiency |
What are the symptoms of Complement component 2 deficiency ? | What are the signs and symptoms of Complement component 2 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Complement component 2 deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Complement component 2 deficiency |
What is (are) CREST syndrome ? | CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST... | CREST syndrome |
What are the symptoms of CREST syndrome ? | What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST 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 l... | CREST syndrome |
What causes CREST syndrome ? | What causes CREST syndrome? In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of con... | CREST syndrome |
How to diagnose CREST syndrome ? | How is CREST syndrome diagnosed? CREST syndrome can be difficult to diagnose. Signs and symptoms vary widely and often resemble those of other connective tissue and autoimmune diseases. Further complicating matters is that limited scleroderma sometimes occurs with other autoimmune conditions such as polymyositis, lupu... | CREST syndrome |
What are the symptoms of NADH cytochrome B5 reductase deficiency ? | What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | NADH cytochrome B5 reductase deficiency |
What is (are) Glucose-6-phosphate dehydrogenase deficiency ? | Glucose 6 phosphate dehydrogenase (G6PD) deficiency is a hereditary condition in which red blood cells break down (hemolysis) when the body is exposed to certain foods, drugs, infections or stress. This condition occurs when a person is missing or doesn't have enough glucose-6-phosphate dehydrogenase, an enzyme which h... | Glucose-6-phosphate dehydrogenase deficiency |
What are the symptoms of Glucose-6-phosphate dehydrogenase deficiency ? | What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition nev... | Glucose-6-phosphate dehydrogenase deficiency |
What causes Glucose-6-phosphate dehydrogenase deficiency ? | What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells fro... | Glucose-6-phosphate dehydrogenase deficiency |
Is Glucose-6-phosphate dehydrogenase deficiency inherited ? | How is glucose-6-phosphate dehydrogenase (G6PD) deficiency inherited? G6PD deficiency is inherited in an X-linked recessive manner. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one changed (mutated) copy of th... | Glucose-6-phosphate dehydrogenase deficiency |
What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ? | How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association,... | Glucose-6-phosphate dehydrogenase deficiency |
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