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Results 1 - 10 of 16 for "Neurofibromatosis," type 1
  1. Neurofibromatosis type 1 
    Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along ... Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
  2. NF1 gene 
    ... More than 1,000 NF1 mutations that cause neurofibromatosis type 1 have been identified. Most of these mutations are ... experience fatigue, fever, and easy bleeding or bruising. Neurofibromatosis Type 1 Protein Neurofibromatosis-related protein NF-1 neurofibromin 1 ( ...
    https://medlineplus.gov/genetics/gene/nf1 - Genetics
  3. Legius syndrome 
    ... syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two ... of Legius syndrome are similar to those of neurofibromatosis type 1. Mutations in the SPRED1 gene cause Legius syndrome. ...
    https://medlineplus.gov/genetics/condition/legius-syndrome - Genetics
  4. Constitutional mismatch repair deficiency syndrome 
    ... to those that occur in a condition called neurofibromatosis type 1. These features include changes in skin coloring (pigmentation), ... with CMMRD syndrome will develop a feature of neurofibromatosis type 1 called Lisch nodules, which are benign growths that ...
    https://medlineplus.gov/...ional-mismatch-repair-deficiency-syndrome - Genetics
  5. MSH2 gene 
    ... to those that occur in a condition called neurofibromatosis type 1.Individuals with CMMRD syndrome inherit two MSH2 gene ... syndrome.It is thought that the features of neurofibromatosis type 1 in people with CMMRD syndrome are due to ...
    https://medlineplus.gov/genetics/gene/msh2 - Genetics
  6. MLH1 gene 
    ... to those that occur in a condition called neurofibromatosis type 1.Individuals with CMMRD syndrome inherit two MLH1 gene ... syndrome.It is thought that the features of neurofibromatosis type 1 in people with CMMRD syndrome are due to ...
    https://medlineplus.gov/genetics/gene/mlh1 - Genetics
  7. MSH6 gene 
    ... to those that occur in a condition called neurofibromatosis type 1.Individuals with CMMRD syndrome inherit two MSH6 gene ... syndrome.It is thought that the features of neurofibromatosis type 1 in people with CMMRD syndrome are due to ...
    https://medlineplus.gov/genetics/gene/msh6 - Genetics
  8. PMS2 gene 
    ... to those that occur in a condition called neurofibromatosis type 1.Individuals with CMMRD syndrome inherit two PMS2 gene ... syndrome.It is thought that the features of neurofibromatosis type 1 in people with CMMRD syndrome are due to ...
    https://medlineplus.gov/genetics/gene/pms2 - Genetics
  9. Cherubism 
    ... that causes learning disabilities and cognitive impairment), and neurofibromatosis type 1 (a condition primarily characterized by multiple skin tumors). ...
    https://medlineplus.gov/genetics/condition/cherubism - Genetics
  10. Schwannomatosis 
    ... The other two recognized forms of neurofibromatosis are neurofibromatosis type 1 and neurofibromatosis type 2. The features of schwannomatosis can be ...
    https://medlineplus.gov/genetics/condition/schwannomatosis - Genetics
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