/Griscelli syndrome type 1

Griscelli syndrome type 1

Rare Disease

MONDO:0008962

Also Known As

GS1Griscelli syndrome type 1Griscelli syndrome with neurological impairmentGriscelli syndrome, cutaneous and neurological typeGriscelli-PruniC)ras syndrome type 1Griscelli-Pruniéras syndrome type 1hypopigmentation-neurologic impairment syndromeGriscelli disease type 1Griscelli syndrome with neurologic impairmentGriscelli syndrome, cutaneous and neurologic typeGriscelli syndrome, type 1partial albinism and primary neurologic disease without hemophagocytic syndromepigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts

Definition

A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.