Neurofibromatosis type 6

MedGen UID:: 1813065
•Concept ID:: CN033499
•: Disease or Syndrome

Synonyms:	Familial café-au-lait spots; Multiple café-au-lait spots; Multiple café-au-lait syndrome; NF6
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Orphanet:	ORPHA2678

Definition

Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeurofibromatosis type 6

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Abnormal skin morphology
      - Abnormality of skin pigmentation
        Hyperpigmentation of the skin
        Neurofibromatosis type 6

Professional guidelines

PubMed

A Review of Selumetinib in the Treatment of Neurofibromatosis Type 1-Related Plexiform Neurofibromas.

Anderson MK, Johnson M, Thornburg L, Halford Z
Ann Pharmacother 2022 Jun;56(6):716-726. Epub 2021 Sep 18 doi: 10.1177/10600280211046298. PMID: 34541874

Neurofibromatosis type 1: New developments in genetics and treatment.

Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543

The Diagnosis and Management of Neurofibromatosis Type 1.

Ly KI, Blakeley JO
Med Clin North Am 2019 Nov;103(6):1035-1054. doi: 10.1016/j.mcna.2019.07.004. PMID: 31582003

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