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What are the symptoms of Leiner disease ? | What are the signs and symptoms of Leiner disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiner 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... | Leiner disease |
What are the symptoms of Spondylometaphyseal dysplasia X-linked ? | What are the signs and symptoms of Spondylometaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... | Spondylometaphyseal dysplasia X-linked |
What is (are) Neurocutaneous melanosis ? | Neurocutaneous melanosis (NCM) is a rare, non-inherited condition of the central nervous system. It is characterized by melanocytic nevi in both the skin and the brain. Two-thirds of people with NCM have giant congenital melanocytic nevi, and the remaining one-third have numerous lesions but no giant lesions. Most pati... | Neurocutaneous melanosis |
What are the symptoms of Neurocutaneous melanosis ? | What are the signs and symptoms of Neurocutaneous melanosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurocutaneous melanosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med... | Neurocutaneous melanosis |
What is (are) Alpha-thalassemia x-linked intellectual disability syndrome ? | Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an... | Alpha-thalassemia x-linked intellectual disability syndrome |
What are the symptoms of Alpha-thalassemia x-linked intellectual disability syndrome ? | What are the signs and symptoms of Alpha-thalassemia x-linked intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-thalassemia x-linked intellectual disability syndrome. If the information is available, the table below includes how often the symptom ... | Alpha-thalassemia x-linked intellectual disability syndrome |
Is Alpha-thalassemia x-linked intellectual disability syndrome inherited ? | How is alpha-thalassemia x-linked intellectual disability syndrome inherited? Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first a... | Alpha-thalassemia x-linked intellectual disability syndrome |
What are the symptoms of Crandall syndrome ? | What are the signs and symptoms of Crandall syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Crandall 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 Dictionar... | Crandall syndrome |
What is (are) Bladder cancer ? | Bladder cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the bladder. Signs and symptoms of the condition may include abdominal pain, blood in the urine, fatigue, painful urination, frequent urination, incontinence, and/or weightloss. Most cases of bladder cancer occur sporadically... | Bladder cancer |
What are the symptoms of Bladder cancer ? | What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. 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... | Bladder cancer |
What are the symptoms of Renal dysplasia diffuse cystic ? | What are the signs and symptoms of Renal dysplasia diffuse cystic? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia diffuse cystic. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | Renal dysplasia diffuse cystic |
What is (are) CADASIL ? | CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy) is an inherited disease of the blood vessels that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain. The disease primarily affects the small blood vessels in the white matter of the... | CADASIL |
What are the symptoms of CADASIL ? | What are the signs and symptoms of CADASIL? Strokes are the main feature of CADASIL and often occur repeatedly. Strokes may lead to severe disability such as an inability to walk and urinary incontinence. The average age at onset for stroke-like episodes is 46 years. A decline in thinking ability (cognitive deficit) is... | CADASIL |
What causes CADASIL ? | What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function a... | CADASIL |
Is CADASIL inherited ? | How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from ... | CADASIL |
What are the treatments for CADASIL ? | How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of sympto... | CADASIL |
What is (are) Cold agglutinin disease ? | Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to... | Cold agglutinin disease |
What are the symptoms of Cold agglutinin disease ? | What are the signs and symptoms of Cold agglutinin disease? Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body's immune system mistakenly attacks and destroys its own red blood cells. When affected people's blood is exposed to cold temperatures (32 to 50 F), certain proteins that no... | Cold agglutinin disease |
What causes Cold agglutinin disease ? | What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli Vi... | Cold agglutinin disease |
Is Cold agglutinin disease inherited ? | Is cold agglutinin disease inherited? Cold agglutinin disease is not an inherited condition. It is designated as either primary (unknown cause) or secondary (associated with or caused by another condition). In some cases, cold agglutinin may be multifactorial which means that multiple environmental factors and genes li... | Cold agglutinin disease |
How to diagnose Cold agglutinin disease ? | How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood ... | Cold agglutinin disease |
What are the treatments for Cold agglutinin disease ? | How might cold agglutinin disease be treated? The treatment of cold agglutinin disease depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause. For example, in those affected by secondary cold agglutinin disease, it is important to diagnos... | Cold agglutinin disease |
What is (are) Bietti crystalline corneoretinal dystrophy ? | Bietti crystalline corneoretinal dystrophy is an inherited eye disease. Symptoms include crystals in the cornea (the clear covering of the eye); yellow, shiny deposits on the retina; and progressive atrophy of the retina, choriocapillaries and choroid (the back layers of the eye). This tends to lead to progressive nigh... | Bietti crystalline corneoretinal dystrophy |
What are the symptoms of Bietti crystalline corneoretinal dystrophy ? | What are the signs and symptoms of Bietti crystalline corneoretinal dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Bietti crystalline corneoretinal dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condit... | Bietti crystalline corneoretinal dystrophy |
What is (are) Yellow nail syndrome ? | Yellow nail syndrome is characterized by yellow nails that lack a cuticle, grow slowly, and are loose or detached (onycholysis). Yellow nail syndrome is often associated with diseases of the lung or lymphedema. Yellow nail syndrome often affects older adults, though it can occur at any age. While the exact cause of t... | Yellow nail syndrome |
What are the symptoms of Yellow nail syndrome ? | What are the signs and symptoms of Yellow nail syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yellow nail 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... | Yellow nail syndrome |
What causes Yellow nail syndrome ? | Has a genetic cause of familial yellow nail syndrome been discovered? The exact cause of yellow nail syndrome remains unclear. There have been reports of several members in the same family being affected with this condition and also reports of children being affected at young ages. These reports have been used to sug... | Yellow nail syndrome |
What are the treatments for Yellow nail syndrome ? | How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questio... | Yellow nail syndrome |
What is (are) Myocarditis ? | Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore ... | Myocarditis |
What are the symptoms of Cryptomicrotia brachydactyly syndrome ? | What are the signs and symptoms of Cryptomicrotia brachydactyly syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cryptomicrotia brachydactyly syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | Cryptomicrotia brachydactyly syndrome |
What are the symptoms of Epilepsy, benign occipital ? | What are the signs and symptoms of Epilepsy, benign occipital? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy, benign occipital. 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... | Epilepsy, benign occipital |
What is (are) Cutaneous mastocytosis ? | Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangi... | Cutaneous mastocytosis |
What are the symptoms of Cutaneous mastocytosis ? | What are the signs and symptoms of Cutaneous mastocytosis? Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms that vary in severity: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous ma... | Cutaneous mastocytosis |
What causes Cutaneous mastocytosis ? | What causes cutaneous mastocytosis? Most cases of cutaneous mastocytosis are caused by changes (mutations) in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of cer... | Cutaneous mastocytosis |
Is Cutaneous mastocytosis inherited ? | Is cutaneous mastocytosis inherited? Most cases of cutaneous mastocytosis are not inherited. They occur spontaneously in families with no history of the condition and are due to somatic changes (mutations) in the KIT gene. Somatic mutations occur after conception and are only present in certain cells. Because they are ... | Cutaneous mastocytosis |
How to diagnose Cutaneous mastocytosis ? | How is cutaneous mastocytosis diagnosed? A diagnosis of cutaneous mastocytosis is typically suspected based on the presence of suspicious signs and symptoms. A skin biopsy that reveals a high number of mast cells (immune cells that are important for the inflammatory response) confirms the diagnosis. Unfortunately it ca... | Cutaneous mastocytosis |
What are the treatments for Cutaneous mastocytosis ? | How might cutaneous mastocytosis be treated? Although there is currently no cure for cutaneous mastocytosis, treatments are available to manage the symptoms of the condition. In general, it is recommended that affected people avoid things that trigger or worsen their symptoms when possible. Certain medications such as ... | Cutaneous mastocytosis |
What is (are) Severe combined immunodeficiency ? | Severe combined immunodeficiencies (SCID) are inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells (specific types of white blood cells needed for immune system function). Common signs and symptoms include an increased susceptibility to infections including ear inf... | Severe combined immunodeficiency |
Is Severe combined immunodeficiency inherited ? | How is severe combined immunodeficiency inherited? Severe combined immunodeficiency (SCID) can be inherited in an X-linked recessive or autosomal recessive manner depending on the genetic cause of the condition. X-linked SCID is the most common type of SCID and is inherited in an X-linked recessive manner. A condition ... | Severe combined immunodeficiency |
How to diagnose Severe combined immunodeficiency ? | How is severe combined immunodeficiency (SCID) diagnosed? A diagnosis of severe combined immunodeficiency (SCID) may be suspected if a baby shows any of the following persistent symptoms within the first year of life: Eight or more ear infections Two or more cases of pneumonia Infections that do not resolve with antibi... | Severe combined immunodeficiency |
What are the symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance ? | What are the signs and symptoms of Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. If the information is ... | Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance |
What are the symptoms of Rutherfurd syndrome ? | What are the signs and symptoms of Rutherfurd syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rutherfurd 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... | Rutherfurd syndrome |
What is (are) Hereditary sensory and autonomic neuropathy ? | Hereditary sensory autonomic neuropathy (HSAN) is a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Myelin is an insulating layer, or sheath that forms around nerves, made up of protein and fatt... | Hereditary sensory and autonomic neuropathy |
What is (are) Pulmonary vein stenosis ? | Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing o... | Pulmonary vein stenosis |
What are the symptoms of Pulmonary vein stenosis ? | What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. 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... | Pulmonary vein stenosis |
What is (are) Spondyloepiphyseal dysplasia Maroteaux type ? | Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findin... | Spondyloepiphyseal dysplasia Maroteaux type |
What are the symptoms of Spondyloepiphyseal dysplasia Maroteaux type ? | What are the signs and symptoms of Spondyloepiphyseal dysplasia Maroteaux type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepiphyseal dysplasia Maroteaux type. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Spondyloepiphyseal dysplasia Maroteaux type |
What is (are) Vein of Galen aneurysm ? | Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often i... | Vein of Galen aneurysm |
What are the symptoms of Vein of Galen aneurysm ? | What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. 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... | Vein of Galen aneurysm |
What are the symptoms of Ectodermal dysplasia with natal teeth Turnpenny type ? | What are the signs and symptoms of Ectodermal dysplasia with natal teeth Turnpenny type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia with natal teeth Turnpenny type. If the information is available, the table below includes how often the symptom is seen in peo... | Ectodermal dysplasia with natal teeth Turnpenny type |
What is (are) Castleman disease ? | Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multipl... | Castleman disease |
What causes Castleman disease ? | What causes Castleman disease? The exact underlying cause of Castleman disease (CD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of CD. IL-6 is a substance normally produced by cells within the lymph no... | Castleman disease |
Is Castleman disease inherited ? | Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. | Castleman disease |
What is (are) Generalized pustular psoriasis ? | Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle wea... | Generalized pustular psoriasis |
What are the symptoms of Generalized pustular psoriasis ? | What are the signs and symptoms of Generalized pustular psoriasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Generalized pustular psoriasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | Generalized pustular psoriasis |
What is (are) Schnitzler syndrome ? | Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases ... | Schnitzler syndrome |
What are the symptoms of Schnitzler syndrome ? | What are the signs and symptoms of Schnitzler syndrome? The signs and symptoms of Schnitzler syndrome vary but may include: Red raised patches of skin (urticaria) that may become itchy Recurrent fevers Join pain and inflammation Organomegaly (enlarged internal organs) often involving the lymph nodes, liver and/or splee... | Schnitzler syndrome |
What causes Schnitzler syndrome ? | What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are pr... | Schnitzler syndrome |
How to diagnose Schnitzler syndrome ? | How is Schnitzler syndrome diagnosed? A diagnosis of Schnitzler syndrome is often suspected based on the presence of characteristic signs and symptoms identified through physical exam, laboratory studies (i.e. immunoelectrophoresis) and/or imaging studies. Additional testing should also be ordered to rule out other con... | Schnitzler syndrome |
What are the treatments for Schnitzler syndrome ? | How might Schnitzler syndrome be treated? The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success: Nonsteroidal anti-inflammatory drugs (NSAIDs) Corticosteroids Immunosuppressive agents Interleukin-... | Schnitzler syndrome |
What is (are) Variant Creutzfeldt-Jakob disease ? | There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and ... | Variant Creutzfeldt-Jakob disease |
What are the symptoms of Athabaskan brainstem dysgenesis ? | What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem 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 M... | Athabaskan brainstem dysgenesis |
What is (are) Dravet syndrome ? | Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists... | Dravet syndrome |
What are the symptoms of Dravet syndrome ? | What are the signs and symptoms of Dravet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Dravet 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... | Dravet syndrome |
What is (are) Cat scratch disease ? | Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Ot... | Cat scratch disease |
What are the symptoms of Cat scratch disease ? | What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may exper... | Cat scratch disease |
What is (are) ADCY5-related dyskinesia ? | ADCY5-related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. The arms, legs, neck and face are most commonly in... | ADCY5-related dyskinesia |
What are the symptoms of ADCY5-related dyskinesia ? | What are the signs and symptoms of ADCY5-related dyskinesia ? The Human Phenotype Ontology provides the following list of signs and symptoms for ADCY5-related dyskinesia . 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... | ADCY5-related dyskinesia |
What are the symptoms of Pillay syndrome ? | What are the signs and symptoms of Pillay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pillay 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... | Pillay syndrome |
What are the symptoms of Familial dilated cardiomyopathy ? | What are the signs and symptoms of Familial dilated cardiomyopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial dilated cardiomyopathy. 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... | Familial dilated cardiomyopathy |
What is (are) Congenital central hypoventilation syndrome ? | Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth. Affected inf... | Congenital central hypoventilation syndrome |
What are the symptoms of Congenital central hypoventilation syndrome ? | What are the signs and symptoms of Congenital central hypoventilation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital central hypoventilation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this cond... | Congenital central hypoventilation syndrome |
Is Congenital central hypoventilation syndrome inherited ? | How is congenital central hypoventilation syndrome inherited? Congenital central hypoventilation syndrome (CCHS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. The genetics of CC... | Congenital central hypoventilation syndrome |
What are the symptoms of Spastic paraplegia 10 ? | What are the signs and symptoms of Spastic paraplegia 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 10. 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... | Spastic paraplegia 10 |
What are the symptoms of Familial colorectal cancer ? | What are the signs and symptoms of Familial colorectal cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial colorectal cancer. 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... | Familial colorectal cancer |
What is (are) Peutz-Jeghers syndrome ? | Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and ... | Peutz-Jeghers syndrome |
What are the symptoms of Peutz-Jeghers syndrome ? | What are the signs and symptoms of Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, the... | Peutz-Jeghers syndrome |
What causes Peutz-Jeghers syndrome ? | What causes Peutz-Jeghers syndrome? Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 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 STK11 result in a defective prot... | Peutz-Jeghers syndrome |
Is Peutz-Jeghers syndrome inherited ? | Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) 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... | Peutz-Jeghers syndrome |
How to diagnose Peutz-Jeghers syndrome ? | Is genetic testing available for Peutz-Jeghers syndrome? Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a ce... | Peutz-Jeghers syndrome |
What is (are) Pemphigus vulgaris ? | Pemphigus vulgaris is an autoimmune disorder that involves blistering of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. In most cases, the exact cause of pemphigus vulgaris is unknow... | Pemphigus vulgaris |
What causes Pemphigus vulgaris ? | What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certai... | Pemphigus vulgaris |
What is (are) Idiopathic neutropenia ? | Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, m... | Idiopathic neutropenia |
What are the symptoms of Idiopathic neutropenia ? | What are the signs and symptoms of Idiopathic neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic neutropenia. 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... | Idiopathic neutropenia |
What is (are) Congenital lobar emphysema ? | Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include dif... | Congenital lobar emphysema |
What are the symptoms of Congenital lobar emphysema ? | What are the signs and symptoms of Congenital lobar emphysema? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lobar emphysema. 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... | Congenital lobar emphysema |
What are the symptoms of Symphalangism with multiple anomalies of hands and feet ? | What are the signs and symptoms of Symphalangism with multiple anomalies of hands and feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Symphalangism with multiple anomalies of hands and feet. If the information is available, the table below includes how often the symptom is seen ... | Symphalangism with multiple anomalies of hands and feet |
What are the symptoms of Wells-Jankovic syndrome ? | What are the signs and symptoms of Wells-Jankovic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic 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 Medic... | Wells-Jankovic syndrome |
What are the symptoms of Fuhrmann syndrome ? | What are the signs and symptoms of Fuhrmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fuhrmann 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 Dictionar... | Fuhrmann syndrome |
What is (are) Hallermann-Streiff syndrome ? | Hallermann-Streiff syndrome is a rare, congenital condition characterized mainly by abnormalities of the skull and facial bones; characteristic facial features; sparse hair; eye abnormalities; dental defects; degenerative skin changes; and proportionate short stature. Intellectual disability is present in some individu... | Hallermann-Streiff syndrome |
What are the symptoms of Hallermann-Streiff syndrome ? | What are the signs and symptoms of Hallermann-Streiff syndrome? The signs and symptoms of Hallermann-Streiff syndrome vary in range and severity among affected individuals. The main features of the condition include abnormalities of the skull and facial bones with distinctive facial characteristics (craniofacial abnorm... | Hallermann-Streiff syndrome |
What causes Hallermann-Streiff syndrome ? | What causes Hallermann-Streiff syndrome? The genetic cause of Hallerman-Streiff syndrome has not been identified. It reportedly typically occurs randomly for unknown reasons (sporadically), most likely due to a new spontaneous (de novo) mutation in the affected individual. | Hallermann-Streiff syndrome |
Is Hallermann-Streiff syndrome inherited ? | How is Hallermann-Streiff syndrome inherited? The majority of cases of Hallermann-Streiff syndrome appear to be sporadic (occurring in individuals with no history of the condition in the family). There have been reports of affected individuals having multiple, unaffected children. Although some have reported it appears... | Hallermann-Streiff syndrome |
How to diagnose Hallermann-Streiff syndrome ? | Is genetic testing available for Hallermann-Streiff syndrome? While we are not aware of clinical genetic testing for Hallermann-Streiff syndrome, GeneTests lists laboratories offering research genetic testing for this condition. To view information for the laboratories offering research genetic testing for Hallermann-S... | Hallermann-Streiff syndrome |
What are the treatments for Hallermann-Streiff syndrome ? | How might Hallermann-Streiff syndrome be treated? Treatment for Hallermann-Streiff syndrome depends on the specific signs and symptoms present in each affected individual. Early disease management for infants may include monitoring of breathing, consideration of tracheostomy, and various measures to improve feeding and... | Hallermann-Streiff syndrome |
What are the symptoms of Genochondromatosis ? | What are the signs and symptoms of Genochondromatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Genochondromatosis. 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... | Genochondromatosis |
What is (are) Pulmonary alveolar microlithiasis ? | Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder... | Pulmonary alveolar microlithiasis |
What are the symptoms of Pulmonary alveolar microlithiasis ? | What are the signs and symptoms of Pulmonary alveolar microlithiasis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar microlithiasis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | Pulmonary alveolar microlithiasis |
What is (are) Laing distal myopathy ? | Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping w... | Laing distal myopathy |
What are the symptoms of Laing distal myopathy ? | What are the signs and symptoms of Laing distal myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Laing distal myopathy. 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... | Laing distal myopathy |
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