Details of Disease

General Information of Disease (ID: DISG4PY1)

Disease Name Griscelli syndrome type 3
Synonyms
Griscelli syndrome, type 3; Griscelli disease type 3; hypomelanosis with no immunologic or neurologic manifestations; Griscelli-Pruniras syndrome type 3; GS3; Griscelli-Pruniras syndrome type 3; Griscelli-PruniC)ras syndrome type 3; Griscelli syndrome type 3
Definition 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.
Disease Hierarchy
DISTHCOQ: Griscelli syndrome
DISG4PY1: Griscelli syndrome type 3
Disease Identifiers
MONDO ID
MONDO_0012220
MESH ID
C537303
UMLS CUI
C1836573
OMIM ID
609227
MedGen ID
373124
Orphanet ID
79478
SNOMED CT ID
1254947002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MLPH OT7ADCXL Strong Autosomal recessive [1]
MYO5A OTMWLP3E Definitive Autosomal recessive [2]
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References

1 Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc Natl Acad Sci U S A. 2001 Aug 28;98(18):10238-43. doi: 10.1073/pnas.181336698. Epub 2001 Aug 14.
2 Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Eur J Pediatr. 2012 Oct;171(10):1527-31. doi: 10.1007/s00431-012-1765-x. Epub 2012 Jun 19.