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What is (are) Antisynthetase syndrome ? | Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying caus... |
What are the symptoms of Antisynthetase syndrome ? | What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or d... |
What causes Antisynthetase syndrome ? | What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the pr... |
How to diagnose Antisynthetase syndrome ? | How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of... |
What are the treatments for Antisynthetase syndrome ? | What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications... |
What is (are) Potocki-Lupski syndrome ? | Potocki-Lupski syndrome (PTLS) is a genetic disorder characterized by the presence of an extra copy of a tiny portion of chromosome 17 (duplication of 17p11.2). People with this duplication often have low muscle tone, poor feeding, and failure to thrive during infancy. They may also present with delayed development of ... |
What are the symptoms of Potocki-Lupski syndrome ? | What are the signs and symptoms of Potocki-Lupski syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Lupski 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... |
What is (are) Congenital pulmonary alveolar proteinosis ? | Congenital pulmonary alveolar proteinosis is a rare form of respiratory failure that is present from birth. In this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult. Congenital pulmonary alveolar proteinosis is caused by mutations in the SFTPB, SFTPC, ABCA3, or C... |
What are the symptoms of Congenital pulmonary alveolar proteinosis ? | What are the signs and symptoms of Congenital pulmonary alveolar proteinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital pulmonary alveolar proteinosis. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What is (are) Ovarian small cell carcinoma ? | Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy. |
What are the treatments for Ovarian small cell carcinoma ? | What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen ... |
What are the symptoms of Charcot-Marie-Tooth disease type 2H ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 2H? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... |
What are the symptoms of Congenital generalized lipodystrophy type 4 ? | What are the signs and symptoms of Congenital generalized lipodystrophy type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 4. If the information is available, the table below includes how often the symptom is seen in people with this cond... |
What are the symptoms of Medulloblastoma ? | What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. 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 is (are) Meningioma ? | Meningiomas originate in the meninges, the membranes that surround the brain and spinal cord. Most meningiomas are benign, though a minority of meningiomas can be classified as atypical or malignant. Though rare, malignant meningiomas can be highly aggressive. However, even benign meningiomas can cause problems if thei... |
What are the treatments for Meningioma ? | How might meningiomas be treated? The treatment varies depending on the location of the meningioma and the symptoms caused by the tumor. Careful observation is sometimes the best course of action for people with a meningioma. When treatment is necessary, surgery and radiation are the most common forms of treatment. Rad... |
What is (are) Hidradenocarcinoma ? | Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40).... |
What are the treatments for Hidradenocarcinoma ? | How might hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment. Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues. Surgery is often the f... |
What is (are) Potassium aggravated myotonia ? | Potassium aggravated myotonia is a group of diseases that causes tensing and stiffness (myotonia) of skeletal muscles, which are the muscles used for movement. The three types of potassium-aggravated myotonia include myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. Potassium aggravated my... |
What are the symptoms of Potassium aggravated myotonia ? | What are the signs and symptoms of Potassium aggravated myotonia? The Human Phenotype Ontology provides the following list of signs and symptoms for Potassium aggravated myotonia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What are the symptoms of Der Kaloustian Mcintosh Silver syndrome ? | What are the signs and symptoms of Der Kaloustian Mcintosh Silver syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Der Kaloustian Mcintosh Silver syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... |
What is (are) Epithelial basement membrane corneal dystrophy ? | Epithelial basement membrane corneal dystrophy is a condition where the epithelium of the cornea (the outermost region of the cornea) loses its normal clarity due to a buildup of cloudy material. It gets its name from the unusual appearance of the cornea during an eye exam. This dystrophy occurs when the epithelium's b... |
What are the symptoms of Epithelial basement membrane corneal dystrophy ? | What are the signs and symptoms of Epithelial basement membrane corneal dystrophy? A chronic problem seen in this condition is the epithelial erosions. They can alter the cornea's normal curvature, causing periodic blurred vision. These erosions may also expose the nerve endings that line the tissue, resulting in moder... |
What are the treatments for Epithelial basement membrane corneal dystrophy ? | How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it... |
What are the symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? | What are the signs and symptoms of Leukoencephalopathy - dystonia - motor neuropathy ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy - dystonia - motor neuropathy . If the information is available, the table below includes how often the symptom is seen in people ... |
What is (are) Carnitine-acylcarnitine translocase deficiency ? | Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce e... |
What are the symptoms of Carnitine-acylcarnitine translocase deficiency ? | What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This diso... |
What causes Carnitine-acylcarnitine translocase deficiency ? | What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps ... |
Is Carnitine-acylcarnitine translocase deficiency inherited ? | How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency 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 t... |
How to diagnose Carnitine-acylcarnitine translocase deficiency ? | Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficie... |
What are the treatments for Carnitine-acylcarnitine translocase deficiency ? | How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. Certain treatments may be helpful for some children but not o... |
What is (are) X-linked creatine deficiency ? | X-linked creatine deficiency is a rare condition that primarily affects the brain. Signs and symptoms generally develop before age 2 and may include mild to severe intellectual disability; delayed speech development, behavioral problems (i.e. autistic features, hyperactivity), and seizures. Less commonly, affected peop... |
What are the symptoms of X-linked creatine deficiency ? | What are the signs and symptoms of X-linked creatine deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked creatine 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 is (are) Mosaic trisomy 8 ? | Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the a... |
What are the symptoms of Mosaic trisomy 8 ? | What are the signs and symptoms of Mosaic trisomy 8? The facial features are usually mild and can include elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, micrognathia, and ear abnormalities. Additional features can include: agenesis of the corpus ca... |
What are the symptoms of Subaortic stenosis short stature syndrome ? | What are the signs and symptoms of Subaortic stenosis short stature syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Subaortic stenosis short stature syndrome. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What are the symptoms of Martinez Monasterio Pinheiro syndrome ? | What are the signs and symptoms of Martinez Monasterio Pinheiro syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martinez Monasterio Pinheiro syndrome. 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 Ornithine translocase deficiency syndrome ? | What are the signs and symptoms of Ornithine translocase deficiency syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine translocase deficiency syndrome. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What is (are) Hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early i... |
What are the symptoms of Hereditary sensory and autonomic neuropathy type V ? | What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. If the information is available, the table below includes how often the symptom is seen in people ... |
What are the symptoms of Ausems Wittebol-Post Hennekam syndrome ? | What are the signs and symptoms of Ausems Wittebol-Post Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ausems Wittebol-Post Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You... |
What are the symptoms of Chromosome 17q deletion ? | What are the signs and symptoms of Chromosome 17q deletion? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 17q 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 Medic... |
What are the symptoms of Spermatogenesis arrest ? | What are the signs and symptoms of Spermatogenesis arrest? The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. 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... |
What is (are) Juvenile spondyloarthropathy ? | Juvenile spondyloarthropathy refers to a group of rheumatic diseases that develop during childhood and are characterized by inflammation of the entheses (the regions where tendons or ligaments attach to bones) and joints. The joints of the lower extremities are generally affected first followed by the sacroiliac joints... |
What is (are) Spondylocostal dysostosis 3 ? | Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. T... |
What are the symptoms of Spondylocostal dysostosis 3 ? | What are the signs and symptoms of Spondylocostal dysostosis 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePl... |
What is (are) Lactate dehydrogenase deficiency ? | Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency... |
What is (are) Chromosome 1q41-q42 deletion syndrome ? | Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected. F... |
What are the symptoms of Chromosome 1q41-q42 deletion syndrome ? | What are the signs and symptoms of Chromosome 1q41-q42 deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chromosome 1q41-q42 deletion syndrome. 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 Orofaciodigital syndrome 3 ? | What are the signs and symptoms of Orofaciodigital syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus... |
What is (are) Hereditary leiomyomatosis and renal cell cancer ? | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a condition that causes benign tumors of smooth muscle tissue in the skin (cutaneous leiomyomas) and in the uterus in females (uterine leiomyomas, or fibroids). The condition also increases the risk of kidney cancer. Signs and symptoms usually begin in adulthoo... |
What are the symptoms of Hereditary leiomyomatosis and renal cell cancer ? | What are the signs and symptoms of Hereditary leiomyomatosis and renal cell cancer? Signs and symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC) typically begin in adulthood at an average age of 25. The skin growths (cutaneous leiomyomata) appear as skin-colored or light brown bumps on the torso and ex... |
What causes Hereditary leiomyomatosis and renal cell cancer ? | What causes hereditary leiomyomatosis and renal cell cancer? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by changes (mutations) in the FH gene. This gene gives the body instructions for making an enzyme called fumarase which is needed for a series of reactions that lets cells use oxygen and energy... |
Is Hereditary leiomyomatosis and renal cell cancer inherited ? | How is hereditary leiomyomatosis and renal cell cancer inherited? Hereditary leiomyomatosis and renal cell cancer (HLRCC) is inherited in an autosomal dominant pattern, which means that having one mutated copy of the gene in each cell is enough to cause symptoms of the condition. In some cases, an affected person inher... |
What are the treatments for Hereditary leiomyomatosis and renal cell cancer ? | How might hereditary leiomyomatosis and renal cell cancer be treated? Skin growths (cutaneous leiomyomas) associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) should be examined by a dermatologist. Treatment of these may include surgery to remove a painful growth; cryoablation and/or lasers; and/or m... |
What is (are) Hypohidrotic ectodermal dysplasia ? | Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant mann... |
How to diagnose Hypohidrotic ectodermal dysplasia ? | Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm t... |
What are the treatments for Hypohidrotic ectodermal dysplasia ? | How might hypohidrotic ectodermal dysplasia be treated? There is no specific treatment for HED. The condition is managed by treating the various symptoms. For patients with abnormal or no sweat glands, it is recommended that they live in places with air conditioning at home, school and work. In order to maintain normal... |
What is (are) Williams syndrome ? | Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing ge... |
What are the symptoms of Williams syndrome ? | What are the signs and symptoms of Williams syndrome? The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy ... |
What causes Williams syndrome ? | What causes Williams syndrome? Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2... |
Is Williams syndrome inherited ? | Is Williams syndrome inherited? |
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... |
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... |
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... |
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... |
What is (are) Cicatricial pemphigoid ? | Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than me... |
What is (are) Ebstein's anomaly ? | Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the... |
What are the symptoms of Ebstein's anomaly ? | What are the signs and symptoms of Ebstein's anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Ebstein's anomaly. 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... |
What is (are) Kawasaki syndrome ? | Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mou... |
What are the symptoms of Kawasaki syndrome ? | What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki 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... |
What causes Kawasaki syndrome ? | What genes are related to Kawasaki syndrome? A variation in the ITPKC gene has been associated with an increased risk of developing Kawasaki syndrome. This gene provides instructions for making an enzyme called inositol 1,4,5-triphosphate 3-kinase C. This enzyme helps limit the activity of immune system cells called T ... |
Is Kawasaki syndrome inherited ? | Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown. |
What are the treatments for Kawasaki syndrome ? | How might Kawasaki disease be treated? Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually greatly improve within 24 hours of treatment with IV gamma globulin. Aspirin is often given in combination with the IV gamma globulin... |
What is (are) Pigment-dispersion syndrome ? | Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and... |
What is (are) Hereditary diffuse leukoencephalopathy with spheroids ? | Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroi... |
What are the symptoms of Hereditary diffuse leukoencephalopathy with spheroids ? | What are the signs and symptoms of Hereditary diffuse leukoencephalopathy with spheroids? HDLS is characterized by leukoencephalopathy, which is damage to a type of brain tissue called white matter (made up of nerve fibers (axons) covered by myelin). Also common in HDLS are swellings called spheroids in the axons of th... |
What causes Hereditary diffuse leukoencephalopathy with spheroids ? | What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor t... |
Is Hereditary diffuse leukoencephalopathy with spheroids inherited ? | How is hereditary diffuse leukoencephalopathy with spheroids (HDLS) inherited? HDLS is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases resu... |
What are the symptoms of Game Friedman Paradice syndrome ? | What are the signs and symptoms of Game Friedman Paradice syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Game Friedman Paradice 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 M... |
What are the symptoms of Branchial arch syndrome X-linked ? | What are the signs and symptoms of Branchial arch syndrome X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Branchial arch syndrome X-linked. 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 Cataracts, ataxia, short stature, and mental retardation ? | What are the signs and symptoms of Cataracts, ataxia, short stature, and mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataracts, ataxia, short stature, and mental retardation. If the information is available, the table below includes how often the symptom is see... |
What is (are) Early-onset, autosomal dominant Alzheimer disease ? | Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. The early-onset, autosomal dominant form of AD is caused by... |
Is Early-onset, autosomal dominant Alzheimer disease inherited ? | How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease 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 ... |
What is (are) Pityriasis lichenoides chronica ? | Pityriasis lichenoides chronica is the mild, chronic form of pityriasis lichenoides, a skin disorder of unknown cause. This condition is characterized by the gradual development of symptomless, small, scaling papules that spontaneously flatten and regress over a period of weeks or months. Lesions at various stages may ... |
What are the symptoms of Pityriasis lichenoides chronica ? | What are the symptoms of pityriasis lichenoides chronica? Pityriasis lichenoides chronica usually starts out as a small pink papule that turns a reddish-brown color. There is usually a fine, mica-like adherent scale attached to the center which can be peeled off to reveal a shiny, pinkish brown surface. Over several we... |
How to diagnose Pityriasis lichenoides chronica ? | How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is m... |
What are the treatments for Pityriasis lichenoides chronica ? | How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different thera... |
What is (are) Notalgia paresthetica ? | Notalgia paresthetica is a common chronic, localized itch, that usually affects patches of skin on the upper back. Occasionally be more widespread and involve other parts of the back, the shoulders and upper chest. People feel both the sensation of an itch and paresthesia (a sensation of tingling, pricking, or numbness... |
What are the treatments for Notalgia paresthetica ? | How might notalgia paresthetica be treated? While this condition may be difficult to treat, typical neuralgia therapies are often employed with moderate success. Effective measures may include: Cooling lotions as required (camphor and menthol) Capsaicin cream - this depletes nerve endings of their chemical transmitter... |
What is (are) Glass-Chapman-Hockley syndrome ? | The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandm... |
What are the symptoms of Glass-Chapman-Hockley syndrome ? | What are the signs and symptoms of Glass-Chapman-Hockley syndrome? Glass-Chapman-Hockley syndrome has only been described in one family with five affected family members in three generations. The signs and symptoms seen in the five affected family members varied, but included the following: Premature or early growing t... |
Is Glass-Chapman-Hockley syndrome inherited ? | How is Glass-Chapman-Hockley syndrome inherited? Based on the only family that has been reported in the medical literature, to date, the syndrome is believed to be inherited in an autosomal dominant manner. |
What are the treatments for Glass-Chapman-Hockley syndrome ? | How might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months... |
What is (are) Early infantile epileptic encephalopathy 4 ? | Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizu... |
What are the symptoms of Early infantile epileptic encephalopathy 4 ? | What are the signs and symptoms of Early infantile epileptic encephalopathy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 4. If the information is available, the table below includes how often the symptom is seen in people with this condit... |
What is (are) Myxopapillary ependymoma ? | Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain). They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors. The age of diagnosis ranges from 6 to 82 ... |
What are the treatments for Myxopapillary ependymoma ? | How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outloo... |
What is (are) Sialidosis type I ? | Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this c... |
What are the symptoms of Sialidosis type I ? | What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. 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... |
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