Griscelli syndrome, type 3

Defects in MLPH are a cause of Griscelli syndrome type 3. GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.

Alternative names

GS3

Classification

  • Defects of phagocyte function
    • Griscelli syndrome

Inheritance

Autosomal recesseive

OMIM

*606526 Melanophilin; MLPH

#609227 Griscelli syndrome type 3

Incidence

Incidence is not known yet.