Griscelli syndrome type 1
Findings
No curated finding names Griscelli syndrome type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.
Definition from the Mondo Disease Ontology (MONDO:0008962), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
24 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
- 4 of 4 reported patients
- Melanin pigment aggregation in hair shaftsHPOHP:0002220
- 3 of 3 reported patients
- Silver-gray hairHPOHP:0002218
- 7 of 7 reported patients
- White eyebrowHPOHP:0002226
- 2 of 2 reported patients
- White eyelashesHPOHP:0002227
- 2 of 2 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 6 of 7 reported patients
- Abnormality of movementHPO
Show the remaining 12
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Partial albinismHPOHP:0007443
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- RetinopathyHPOHP:0000488
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- White hairHPOHP:0011364
- Very frequent (80% to 99% of cases)
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.
- MYO5AHGNC:7602
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Griscelli syndrome type 1
- Also called
- Griscelli-PruniC)ras syndrome type 1Griscelli-Pruniéras syndrome type 1GS1hypopigmentation-neurologic impairment syndrome