Griscelli syndrome type 2
Findings
No curated finding names Griscelli syndrome type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011872), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- FeverHPOHP:0001945
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HemophagocytosisHPOHP:0012156
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- Melanin pigment aggregation in hair shaftsHPOHP:0002220
- 16 of 16 reported patients
- Silver-gray hairHPOHP:0002218
- 16 of 16 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RAB27AHGNC:9766
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: Griscelli syndrome type 2
- Also called
- Griscelli syndrome with hemophagocytic syndromeGriscelli-PruniC)ras syndrome type 2Griscelli-Pruniéras syndrome type 2Griscelli-Pruni��ras syndrome type 2GS2hypopigmentation-immunodeficiency with or without neurologic impairment syndromePAID syndromepartial albinism and immunodeficiency syndrome