Skip to content
GenoLensGenoLens

Griscelli syndrome type 3

MONDO:0012220

Also known as: GS3, Griscelli syndrome type 3, Griscelli-PruniC)ras syndrome type 3, Griscelli-Pruniéras syndrome type 3, Griscelli-Pruni��ras syndrome type 3

MONDO:
MONDO:0012220
Orphanet:
79478
Rare disease55 associated genes

Description

A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.

Associated genes

+45 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.