Griscelli syndrome type 3
Findings
No curated finding names Griscelli syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0012220), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Large clumps of pigment irregularly distributed along hair shaftHPOHP:0004527
- 2 of 2 reported patients
- Silver-gray hairHPOHP:0002218
- 2 of 2 reported patients
- White eyelashesHPOHP:0002227
- 2 of 2 reported patients
- Hypopigmentation of hairHPOHP:0005599
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Occasional (5% to 29% of cases)
- Partial albinismHPOHP:0007443
- Occasional (5% to 29% of cases)
- Abnormality of the nervous system
Genes
2 genes
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.
Where it sits
- A kind of
Other names
4 names
Resolves to: Griscelli syndrome type 3
- Also called
- Griscelli-PruniC)ras syndrome type 3Griscelli-Pruniéras syndrome type 3Griscelli-Pruni��ras syndrome type 3GS3