Details of Disease

General Information of Disease (ID: DISDQRBS)

Disease Name Griscelli syndrome type 2
Synonyms
Paid syndrome; Griscelli syndrome, type 2; Griscelli disease type 2; GS2; partial albinism and immunodeficiency syndrome; Griscelli syndrome type 2; Griscelli-Pruniras syndrome type 2; Griscelli-Pruniras syndrome type 2; PAID syndrome; hypopigmentation-immunodeficiency with or without neurologic impairment syndrome; Griscelli syndrome with hemophagocytic syndrome; Griscelli-PruniC)ras syndrome type 2
Definition
Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.
Disease Hierarchy
DISTHCOQ: Griscelli syndrome
DISZ74WG: Constitutional neutropenia
DISQP21Z: Hereditary hemophagocytic lymphohistiocytosis
DISDQRBS: Griscelli syndrome type 2
Disease Identifiers
MONDO ID
MONDO_0011872
MESH ID
C537302
UMLS CUI
C1868679
OMIM ID
607624
MedGen ID
357030
Orphanet ID
79477

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
FHL3 OTMPRLZ5 Strong Biomarker [1]
RAB27A OT9SQRWY Definitive Autosomal recessive [2]
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References

1 Evidence for defective Rab GTPase-dependent cargo traffic in immune disorders.Exp Cell Res. 2013 Sep 10;319(15):2360-7. doi: 10.1016/j.yexcr.2013.06.012. Epub 2013 Jun 26.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.