Neurofibromatosis Type I

Neurofibromatosis type I (NF-1), formerly known as von Recklinghausen disease after the researcher (Friedrich Daniel von Recklinghausen) who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene.

NF-1 is not to be confused with Proteus Syndrome, which is a separate disorder, although significant confusion remains in both the media and medical community regarding this fact. NF-1 is a developmental syndrome caused by germline mutations in neurofibromin, a gene that is involved in the RAS pathway (RASopathy). In diagnosis it may also be confused with Legius syndrome.

Read more about Neurofibromatosis Type I:  Simple Explanation, Prognosis, Treatment, Patient Registry

Other articles related to "neurofibromatosis type i, neurofibromatosis, neurofibromatosis type, type":

Crowe Sign
... Crowe sign or Crowe's sign is the presence of axillary (armpit) freckling in people with neurofibromatosis type I (von Recklinghausen's disease) ... presence is one of seven diagnostic criteria for neurofibromatosis ... be present in the intertriginous area in neurofibromatosis, such as the inguinal fold, submamillary areas and nape of the neck ...
Neurofibromatosis Type I - Patient Registry
... Washington University Neurofibromatosis Center maintains a patient registry. ...
Texas Neurofibromatosis Foundation - Support
... Neurofibromatosis Cafe Home Page of the Neurofibromatosis Cafe website (a non-profit organization working providing patient education, awareness and ...
Neurofibromatosis Type 4
... Neurofibromatosis type 4 (also known as "Neurofibromatosis variant type") resembles von Recklinghausen's disease, but also presents with cutaneous neurofibromas ...

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