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NF1
MCID: NRF002
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Neurofibromatosis malady |
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197 genes, 15 tissues, 902 related diseases, 29 phenotypes, 468 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 23MedlinePlus, 31NINDS, 15GeneReviews, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. Tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin. There are three types of neurofibromatosis:
Neurofibromatosis type 1 (NF1) causes skin changes and deformed bones and usually starts at birth.
Neurofibromatosis type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years.
Schwannomatosis causes intense pain. It is the rarest type. Neurofibromatosis can either be an inherited disorder or the product of a gene mutation. Both NF1 and NF2 are caused by two separate abnormal genes and may be inherited from parents who have NF or may be the result of a mutation in the sperm or egg cells. NF is considered an autosomal dominant disorder.The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22. There is no cure for neurofibromatosis. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines.30
MalaCards: Neurofibromatosis, also known as bilateral acoustic neurofibromatosis, is related to neuroma and t-cell leukemia. An important gene associated with Neurofibromatosis is NF1 (neurofibromin 1), and among its related pathways are Pancreatic cancer and Renal cell carcinoma. The compounds phenylalanine and dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and spinal cord, and related mouse phenotypes are endocrine/exocrine gland and respiratory system. MedlinePlus: Neurofibromatosis is a genetic disorder of the nervous system. it mainly affects how nerve cells form and grow. it causes tumors to grow on nerves. you can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. once you have it, you can pass it along to your children. there are three types of neurofibromatosis: type 1 (nf1) causes skin changes and deformed bones and usually starts at birth. type 2 (nf2) causes hearing loss, ringing in the ears and poor balance. it often starts in the teen years. schwannomatosis causes intense pain. it is the rarest type. there is no cure. treatment is aimed at controlling symptoms. depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines. nih: national institute of neurological disorders and stroke23 NINDS: The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. 31 Genetics Home Reference: Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on nerves in other areas of the brain or spinal cord are also commonly seen with this condition.17 Wikipedia: Neurofibromatosis (commonly abbreviated NF; neurofibromatosis type 1 is also known as von Recklinghausen...44 more... OMIM: 162200 GeneReviews summary for nf1 GeneReviews summary for nf2 |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 23MedlinePlus, 43UMLS, 24MeSH, 27NCIt, 40SNOMED-CT, 19ICD9CM See all sources |
Aliases & Descriptions:
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 162200
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for neurofibromatosis Drug clinical trials:Search ClinicalTrials for neurofibromatosis Search NIH Clinical Center for neurofibromatosis Search CenterWatch for neurofibromatosis |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to neurofibromatosis:22Brain, Skin, Spinal cord, Bone marrow, Whole blood, Smooth muscle, Small intestine, Adrenal gland, Breast, Myeloid, T cells, B cells, Endothelial, Fetal brain, Pituitary
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to neurofibromatosis:25 (show all 29)
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Sources: 35PubMed See all sources |
Articles related to neurofibromatosis:(show top 50) (show all 468)
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Sources: 1BioGPS See all sources |
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Sources: 20KEGG, 10EMD Millipore, 34PharmGKB, 3Cell Signaling Technology, 36QIAGEN, 41Thomson Reuters See all sources |
Pathways related to neurofibromatosis according to GeneDecks:(show top 50) (show all 275)
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to neurofibromatosis according to GeneDecks:(show top 50) (show all 313)
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Sources: 12Gene Ontology See all sources |
Cellular components related to neurofibromatosis according to GeneDecks:(show all 18)
Biological processes related to neurofibromatosis according to GeneDecks:(show all 46)
Molecular functions related to neurofibromatosis according to GeneDecks:(show all 14)
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