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What are the symptoms of Pili annulati ? | What are the signs and symptoms of Pili annulati? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili annulati. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to loo... |
What is (are) Tetrasomy X ? | Tetrasomy X is a chromosome disorder that only affects females and is caused by having four copies of the X chromosome instead of two. Females with tetrasomy X have a total of 48 chromosomes in their cells, so this condition is sometimes written as 48, XXXX. The signs and symptoms of tetrasomy X vary, but can include m... |
What are the symptoms of Tetrasomy X ? | What are the signs and symptoms of Tetrasomy X? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrasomy X. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up... |
What causes Tetrasomy X ? | What causes tetrasomy X? Tetrasomy X is usually caused by a random error in the formation of an egg cell (before pregnancy). In some cases, it may be due to inheriting three X chromosomes from the mother and one X chromosome from the father. In other cases, it may be due to inheriting all four X chromosomes from the mo... |
What are the symptoms of Autosomal recessive spastic ataxia 4 ? | What are the signs and symptoms of Autosomal recessive spastic ataxia 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive spastic ataxia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Multicentric reticulohistiocytosis ? | Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, h... |
What are the symptoms of Multicentric reticulohistiocytosis ? | What are the signs and symptoms of Multicentric reticulohistiocytosis? The main symptoms of multicentric reticulohistiocytosis are arthritis and red to purple skin nodules varying in size from 1 to 10 mm. The nodules can be found on any part of the body but tend to concentrate on the face and hands and decrease in numb... |
What are the treatments for Multicentric reticulohistiocytosis ? | How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many diff... |
What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ? | What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. If the information is available, the table below includes how often the symptom is seen in people with this co... |
What is (are) Tarsal tunnel syndrome ? | Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve an... |
What are the symptoms of Tarsal tunnel syndrome ? | What symptoms are commonly seen in tarsal tunnel syndrome? The symptoms of tarsal tunnel syndrome can vary from person to person. The most common symptom of tarsal tunnel syndrome is foot and ankle pain. Individuals may also experience a burning or tingling sensation and numbness. These symptoms may occur when a person... |
What causes Tarsal tunnel syndrome ? | What causes tarsal tunnel syndrome? There are a variety of factors that may cause tarsal tunnel syndrome. These may include repetitive stress with activities, trauma (e.g., crush injury, stretch injury, fractures, ankle dislocations or sprains), flat feet, and excess weight. Additionally, any lesion that occupies space... |
What are the treatments for Tarsal tunnel syndrome ? | What treatment is available for tarsal tunnel syndrome? While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid i... |
What are the symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis ? | What are the signs and symptoms of Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis. If the inf... |
What are the symptoms of Acromegaloid facial appearance syndrome ? | What are the signs and symptoms of Acromegaloid facial appearance syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid facial appearance 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) Multicentric Castleman Disease ? | Multicentric Castleman disease (MCD) is a rare condition that affects the lymph nodes and related tissues. It is a form of Castleman disease that is "systemic" and affects multiple sets of lymph nodes and other tissues throughout the body (as opposed to unicentric Castleman disease which has more "localized" effects). ... |
What are the symptoms of Multicentric Castleman Disease ? | What are the signs and symptoms of multicentric Castleman disease? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. They can vary but may include: Fever Enlarged lymph nodes Night sweats Loss of appetite and weight loss Weakness and fatigu... |
What causes Multicentric Castleman Disease ? | What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) 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 MCD. IL-6 is a substance normally produced ... |
Is Multicentric Castleman Disease inherited ? | Is multicentric Castleman disease inherited? Although the exact underlying cause of multicentric Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. |
How to diagnose Multicentric Castleman Disease ? | How is multicentric Castleman disease diagnosed? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. However, if MCD is suspected, the following tests may be recommended to help establish the diagnosis and rule out other conditions that cause... |
What are the treatments for Multicentric Castleman Disease ? | How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block th... |
What is (are) Paget disease of bone ? | Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect... |
What are the symptoms of Paget disease of bone ? | What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical D... |
What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can... |
What is (are) Beare-Stevenson cutis gyrata syndrome ? | Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normall... |
What are the symptoms of Beare-Stevenson cutis gyrata syndrome ? | What are the signs and symptoms of Beare-Stevenson cutis gyrata syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beare-Stevenson cutis gyrata syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What is (are) Centronuclear myopathy ? | Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause... |
What are the symptoms of Centronuclear myopathy ? | What are the signs and symptoms of Centronuclear myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Centronuclear 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... |
What are the symptoms of Angioma serpiginosum, autosomal dominant ? | What are the signs and symptoms of Angioma serpiginosum, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Angioma serpiginosum, autosomal dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition.... |
What are the symptoms of Madokoro Ohdo Sonoda syndrome ? | What are the signs and symptoms of Madokoro Ohdo Sonoda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What are the symptoms of Cardioauditory syndrome of Sanchez Cascos ? | What are the signs and symptoms of Cardioauditory syndrome of Sanchez Cascos? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardioauditory syndrome of Sanchez Cascos. If the information is available, the table below includes how often the symptom is seen in people with this conditio... |
What is (are) Porphyria cutanea tarda ? | Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fr... |
What are the symptoms of Porphyria cutanea tarda ? | What are the signs and symptoms of Porphyria cutanea tarda? The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. 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 Nail dysplasia, isolated congenital ? | What are the signs and symptoms of Nail dysplasia, isolated congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail dysplasia, isolated congenital. 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 Infantile axonal neuropathy ? | What are the signs and symptoms of Infantile axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile axonal neuropathy. 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) Erythropoietic protoporphyria ? | Erythropoietic protoporphyria is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by impaired activity of ferrocheletase... |
What are the symptoms of Erythropoietic protoporphyria ? | What are the signs and symptoms of Erythropoietic protoporphyria? The Human Phenotype Ontology provides the following list of signs and symptoms for Erythropoietic protoporphyria. 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 causes Erythropoietic protoporphyria ? | What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene. |
Is Erythropoietic protoporphyria inherited ? | How is erythropoietic protoporphyria (EPP) inherited? EPP is inherited in an autosomal recessive manner. In most cases, affected individuals have one severe (loss-of-function) mutation that is inherited from one parent, and another weak (low-expression) mutation that is inherited from the other parent. In a small numbe... |
What is (are) Michels syndrome ? | Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry,... |
What are the symptoms of Michels syndrome ? | What are the signs and symptoms of Michels syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michels syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary ... |
What is (are) Optic atrophy 1 ? | Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include diff... |
What are the symptoms of Optic atrophy 1 ? | What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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 Dictionary to... |
What are the symptoms of Familial congenital fourth cranial nerve palsy ? | What are the signs and symptoms of Familial congenital fourth cranial nerve palsy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial congenital fourth cranial nerve palsy. If the information is available, the table below includes how often the symptom is seen in people with thi... |
What are the symptoms of Mental retardation, X-linked, nonspecific ? | What are the signs and symptoms of Mental retardation, X-linked, nonspecific? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation, X-linked, nonspecific. 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 Saccharopinuria ? | What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. 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) Osteochondritis dissecans ? | Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness ... |
What are the symptoms of Osteochondritis dissecans ? | What are the signs and symptoms of osteochondritis dissecans? The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage an... |
What causes Osteochondritis dissecans ? | What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone ... |
How to diagnose Osteochondritis dissecans ? | How is osteochondritis dissecans diagnosed? A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomograph... |
What are the treatments for Osteochondritis dissecans ? | How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity ... |
What are the symptoms of Gracile bone dysplasia ? | What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone dysplasia. 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) Wandering spleen ? | Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen m... |
What are the treatments for Wandering spleen ? | How might wandering spleen be treated? Because wandering spleen can cause life-threatening complications (such as splenic infarction, portal hypertension, and hemorrhage), surgery to remove the spleen is the preferred treatment method for patients. Laparoscopic splenectomy is the typical method used for spleen removal.... |
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... |
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... |
What is (are) PURA syndrome ? | PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, learning disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. PURA syndrome occurs when one of a person's two copies of the PURA gene, located on c... |
What is (are) Type 1 plasminogen deficiency ? | Type 1 plasminogen deficiency is a genetic condition associated with chronic lesions in the pseudomembrane (tough, thick material) of the mucosa of the eye, mouth, nasopharynx, trachea, and female genital tract; decreased serum plasminogen activity; and decreased plasminogen antigen level. The lesions may be triggered ... |
What are the symptoms of Type 1 plasminogen deficiency ? | What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most c... |
What causes Type 1 plasminogen deficiency ? | What causes plasminogen deficiency, type 1? Plasminogen deficiency, type 1 is caused by a mutation in a gene encoding plasminogen, an enzyme whose function is to dissolve fibrin clots. Fibrin clots form scabs at a wound site. |
Is Type 1 plasminogen deficiency inherited ? | Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms. |
What are the treatments for Type 1 plasminogen deficiency ? | How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. R... |
What are the symptoms of Porencephaly cerebellar hypoplasia internal malformations ? | What are the signs and symptoms of Porencephaly cerebellar hypoplasia internal malformations? The Human Phenotype Ontology provides the following list of signs and symptoms for Porencephaly cerebellar hypoplasia internal malformations. If the information is available, the table below includes how often the symptom is s... |
What is (are) Punctate inner choroidopathy ? | Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of perip... |
What is (are) Lenz microphthalmia syndrome ? | Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body. Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. Eye symptoms ma... |
What are the symptoms of Lenz microphthalmia syndrome ? | What are the signs and symptoms of Lenz microphthalmia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz microphthalmia 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 Medline... |
What are the symptoms of Eyebrows duplication of, with stretchable skin and syndactyly ? | What are the signs and symptoms of Eyebrows duplication of, with stretchable skin and syndactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Eyebrows duplication of, with stretchable skin and syndactyly. If the information is available, the table below includes how often the symp... |
What are the symptoms of Focal facial dermal dysplasia ? | What are the signs and symptoms of Focal facial dermal dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Focal facial dermal dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli... |
What is (are) 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... |
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... |
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... |
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 ... |
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... |
What are the symptoms of Familial hyperlipo-proteinemia type 1 ? | What are the signs and symptoms of Familial hyperlipo-proteinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperlipo-proteinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
What is (are) Familial pemphigus vulgaris ? | Familial pemphigus vulgaris refers to a cluster of pemphigus vulgaris within a family. Pemphigus vulgaris is a rare autoimmune condition that is characterized by blisters and sores on the skin and mucus membranes. Although the exact cause of familial pemphigus vulgaris is unknown, autoimmune conditions generally occur ... |
What are the symptoms of Familial pemphigus vulgaris ? | What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. 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) GM1 gangliosidosis ? | GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult ons... |
What are the symptoms of GM1 gangliosidosis ? | What are the signs and symptoms of GM1 gangliosidosis? There are three general types of GM1 gangliosidosis, which differ in severity but can have considerable overlap of signs and symptoms. Classic infantile (type 1) GM1 gangliosidosis is the most severe type, with onset shortly after birth (usually within 6 months of ... |
What causes GM1 gangliosidosis ? | What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called... |
Is GM1 gangliosidosis inherited ? | How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, ... |
How to diagnose GM1 gangliosidosis ? | Is genetic testing available for GM1 gangliosidosis? Yes. A diagnosis of GM1 gangliosidosis (GM1), can be made by either enzyme analysis of the beta-galactosidase enzyme, or by molecular genetic testing of the GLB1 gene. Despite the availability of molecular genetic testing, the mainstay of diagnosis will likely contin... |
What are the treatments for GM1 gangliosidosis ? | How might GM1 gangliosidosis be treated? There is currently no effective medical treatment for GM1 gangliosidosis. Symptomatic treatment for some of the neurologic signs and symptoms is available, but does not significantly alter the progression of the condition. For example, anticonvulsants may initially control seizu... |
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... |
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... |
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... |
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 ... |
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... |
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 ... |
What are the symptoms of Dystonia 3, torsion, X-linked ? | What are the signs and symptoms of Dystonia 3, torsion, X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 3, torsion, 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 Medli... |
What are the symptoms of Spinal muscular atrophy Ryukyuan type ? | What are the signs and symptoms of Spinal muscular atrophy Ryukyuan type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy Ryukyuan type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... |
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, ... |
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... |
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... |
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... |
What are the symptoms of Beardwell syndrome ? | What are the signs and symptoms of Beardwell syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Beardwell 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... |
What is (are) 17q23.1q23.2 microdeletion syndrome ? | 17q23.1q23.2 microdeletion syndrome is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location encompassing bands 23.1 to 23.2 on the long (q) arm of the chromosome. People with 17q23.1q23.2 microdeletion syndrome may have developmental delay, microcephaly, short... |
What are the symptoms of 17q23.1q23.2 microdeletion syndrome ? | What are the signs and symptoms of 17q23.1q23.2 microdeletion syndrome? 17q23.1q23.2 microdeletion syndrome is characterized by developmental delay, microcephaly, short stature, heart defects and hand, foot and limb abnormalities. All individuals reported to date have had mild to moderate developmental delay, in partic... |
What causes 17q23.1q23.2 microdeletion syndrome ? | What causes 17q23.2q23.2 microdeletion syndrome? The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17. Two transcription factors, TBX2 and TBX4, which belong to a family of genes implicated in ... |
Is 17q23.1q23.2 microdeletion syndrome inherited ? | Is 17q23.2q23.2 microdeletion syndrome inherited? Parental FISH testing in most of the reported cases confirmed a de novo origin, meaning that the deletion was new to the family. |
How to diagnose 17q23.1q23.2 microdeletion syndrome ? | How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). |
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