Details of Disease | DrugMAP

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.