Griscelli syndrome

Also known as: Partial albinism with immunodeficiency

Hypopigmentation with hemophagocytic syndrome in type 2.

Medical specialty: Hematology
Subspecialty: Hematology / Platelet disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: MLPH, MYO5A, RAB27A

Etiology & mechanism

Defects in melanosome transport and cytotoxic granule exocytosis.

Gene(s) involved (3)

MLPHMYO5ARAB27A

Symptoms & signs (5)

hemophagocytic lymphohistiocytosishypopigmentationimmunodeficiencyneurologic deteriorationsilvery hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.