Neurology · Neurology / Neurocutaneous disorders
Neurofibromatosis type 1
also: von Recklinghausen disease
Autosomal dominant neurocutaneous disorder.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurocutaneous disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, café-au-lait macules in early childhood
- Gene(s) involved
- NF1, SPRED1
- Alternative names & eponyms
- von Recklinghausen disease
Etiology & mechanism
NF1 loss of function.
Gene(s) involved (2)
Symptoms & signs (5)
In plain terms, someone with Neurofibromatosis type 1 may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
Shares genes with
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