Details of Disease

General Information of Disease (ID: DISTHCOQ)

Disease Name Griscelli syndrome
Synonyms
Griscelli disease; Chdiak-Higashi-like syndrome; ChC)diak-Higashi-like syndrome; Griscelli-Pruniras syndrome; partial albinism-immunodeficiency syndrome; Griscelli-PruniC)ras syndrome; Griscelli-Pruniras syndrome; Chdiak-Higashi-like syndrome
Definition
Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).
Disease Hierarchy
DIS063EG: Syndromic oculocutaneous albinism
DISTHCOQ: Griscelli syndrome
Disease Identifiers
MONDO ID
MONDO_0018306
UMLS CUI
C0398794
MedGen ID
585090
Orphanet ID
381
SNOMED CT ID
37548006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP3B1 OTYTIH5Q Strong Genetic Variation [1]
DNAJC21 OT8C14QA Strong Genetic Variation [2]
FGL1 OTT0QHQ1 Strong Genetic Variation [1]
HPS1 OTKS5I7T Strong Genetic Variation [1]
MLPH OT7ADCXL Strong Genetic Variation [3]
NCR3 OT20M764 Strong Biomarker [4]
RAB27A OT9SQRWY Strong Genetic Variation [5]
RAB27B OTPF9D0K Strong Biomarker [6]
SBF2 OTBB8NO8 Strong Genetic Variation [7]
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⏷ Show the Full List of 9 DOT(s)

References

1 Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.Hum Mutat. 2006 May;27(5):402-7. doi: 10.1002/humu.20309.
2 Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.Braz J Med Biol Res. 2008 Oct;41(10):839-48. doi: 10.1590/s0100-879x2008001000002.
3 Cellular and clinical report of new Griscelli syndrome type III cases.Pigment Cell Melanoma Res. 2012 Jan;25(1):47-56. doi: 10.1111/j.1755-148X.2011.00901.x. Epub 2011 Oct 3.
4 NK cytotoxicity mediated by CD16 but not by NKp30 is functional in Griscelli syndrome.Blood. 2007 May 15;109(10):4306-12. doi: 10.1182/blood-2006-09-047159. Epub 2007 Jan 25.
5 Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.J Allergy Clin Immunol. 2015 May;135(5):1310-8.e1. doi: 10.1016/j.jaci.2014.08.039. Epub 2014 Oct 11.
6 Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome.J Clin Invest. 2002 Jul;110(2):247-57. doi: 10.1172/JCI15058.
7 Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.J Thromb Thrombolysis. 2013 Nov;36(4):501-6. doi: 10.1007/s11239-012-0864-x.