Griscelli syndrome, type 1

Defects in MYO5A cause Griscelli syndrome (GS) type 1 (GS1), an autosomal recessive disorder. Mutations in MYO5A may also cause a form of Griscelli syndrome (GS3) with a phenotype restricted to hypopigmentation. GS1 correspond to the 'dilute' phenotype in the mouse, and GS2 correspond to the 'ashen' phenotype in mouse.

Alternative names

GS1

Griscelli syndrome with neurologic impairment

Partial albinism and primary neurologic disease without hemophagocytic syndrome

Griscelli syndrome, cutaneous and neurologic type

Elejalde syndrome

Classification

  • Defects of phagocyte function
    • Griscelli syndrome

Inheritance

Autosomal recesseive

OMIM

#214450 Griscelli syndrome

*160777 MYOSIN VA; MYO5A

Incidence

Incidence is not known.