Griscelli syndrome
MONDO:0018306Mondo
Findings
No curated finding names Griscelli syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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).
Definition from the Mondo Disease Ontology (MONDO:0018306), read 2026-09-29. CC BY 4.0.
Features
36 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.
- Hypopigmented skin patchesHPOHP:0001053
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- Silver-gray hairHPOHP:0002218
- Very frequent (80% to 99% of cases)
- White hairHPOHP:0011364
- Very frequent (80% to 99% of cases)
- Abnormal circulating lipid concentrationHPOHP:0003119
- Frequent (30% to 79% of cases)
- Abnormality of neutrophilsHPOHP:0001874
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
- Decreased total leukocyte countHPOHP:0001882
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
- ImmunodeficiencyHPOHP:0002721
- Frequent (30% to 79% of cases)
- LymphadenopathyHPOHP:0002716
- Frequent (30% to 79% of cases)
- ThrombocytopeniaHPOHP:0001873
- Frequent (30% to 79% of cases)
Show the remaining 24
- Abnormal eyebrow morphologyHPOHP:0000534
- Occasional (5% to 29% of cases)
- Abnormal eyelash morphologyHPOHP:0000499
- Occasional (5% to 29% of cases)
- Abnormality of movementHPOHP:0100022
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Bone marrow hypocellularityHPOHP:0005528
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
7 names
Resolves to: Griscelli syndrome
- Also called
- ChC)diak-Higashi-like syndromeChédiak-Higashi-like syndromeCh��diak-Higashi-like syndromeGriscelli-PruniC)ras syndromeGriscelli-Pruniéras syndromeGriscelli-Pruni��ras syndromepartial albinism-immunodeficiency syndrome