Neurofibromatosis type 1 - Symptoms and causes - Mayo Clinic
Neurofibromatosis type 1 (NF1) is a genetic condition that causes changes in skin pigment and tumors on nerve tissue. Skin changes include flat, light brown spots and freckles in the armpits and groin.
NF1 Gene - GeneCards | NF1 Protein | NF1 Antibody
2024年12月25日 · NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis-Noonan Syndrome and Neurofibromatosis, Type I . Among its related pathways are MAPK family signaling cascades and Prolactin Signaling .
Neurofibromatosis type 1: MedlinePlus Genetics
Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves ( oligodendrocytes and Schwann cells).
Neurofibromatosis 1 - GeneReviews® - NCBI Bookshelf
1998年10月2日 · Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically.
Neurofibromatosis Type 1 (NF1) - Johns Hopkins Medicine
NF1 Gene — What causes neurofibromatosis type 1? Neurofibromatosis type 1 is caused by a change in the NF1 gene, which is found on chromosome 17. Some people with NF1 have signs and symptoms only on one part of their body. This is called mosaic (or segmental) NF1.
NF1 gene - MedlinePlus
The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves.
Neurofibromatosis Type 1 - StatPearls - NCBI Bookshelf
2023年8月13日 · NF-1 is an autosomal dominant disorder. The gene for NF-1 is located on chromosome 17 and encodes a gene product called neurofibromin. Neurofibromin is widely expressed in a variety of tissues. Neurofibromin, a GTPase-activating protein, normally inhibits the rat sarcoma (RAS) pathway.
Molecular genetics of neurofibromatosis type 1 (NF1) - PMC
Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterised by multiple neurofibromas, café au lait spots, and Lisch nodules of the iris, with a variable clinical expression.
4763 - Gene ResultNF1 neurofibromin 1 [ (human)] - National …
Phenotypic and genetic characterization of novel variant in the NF1 gene underlying neurofibromatosis type 1 in five Chinese families. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
Neurofibromatosis Type 1 (NF1) - Cleveland Clinic
2024年5月1日 · What causes neurofibromatosis type 1? A genetic change to the neurofibromin 1 gene causes NF1. Neurofibromin 1 gives your body instructions to create the neurofibromin protein. This protein is a tumor suppressor. It manages how often a cell divides and replicates.
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