Griscelli syndrome
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Epidemiology
rare
Pathology
- accumulation of melanosomes in melanocytes
- hypomelanosis with:
- both neurologic & immunologic disorder may occur together
Genetics
- autosomal recessive
- associated with defects in MYO5A (type 1, type 3)
- associated with defects in RAB27A (type 2)
- associated with defects in MLPH (type 3)
Clinical manifestations
- pigmentary dilution of the skin & hair (hypomelanosis)
- presence of large clumps of pigment in hair shafts
- silvery-gray hair
More general terms
- genetic syndrome (multisystem disorder)
- immunodeficiency; immunodeficiency syndrome
- genetic disease of the immune system
More specific terms
- Griscelli syndrome type-1 (Chediak-Higashi-like syndrome)
- Griscelli syndrome type-2 (Chediak-Higashi-like syndrome)
- Griscelli syndrome type-3
Additional terms
References
- ↑ Pastural E et al Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nature Genetics 16:289-92, 1997 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9207796
- ↑ OMIM https://mirror.omim.org/entry/214450
- ↑ OMIM https://mirror.omim.org/entry/607624