Neurofibromatosis type 1

rare

A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Identifiers: MONDO:0018975 OMIM:162200 Orphanet:636
Causal genes: NF1
Part of: RASopathy Developmental defect during embryogenesis Neurocristopathy Neurofibromatosis
Also known as: Neurofibromatosis 1 · neurofibromatosis type i · neurofibromatosis, type 1 · NF1 · Nf1-Microdeletion syndrome

Subtypes

All diseases Rare only

Disease

Chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0013357
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion MONDO:0018208
Neurofibromatosis, familial spinal MONDO:0008078

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