Hematology · Hematology / Platelet disorders
Griscelli syndrome
also: Partial albinism with immunodeficiency
Hypopigmentation with hemophagocytic syndrome in type 2.
- Specialty
- Hematology
- Subspecialty
- Hematology / Platelet disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- MLPH, MYO5A, RAB27A
- Alternative names & eponyms
- Partial albinism with immunodeficiency
Etiology & mechanism
Defects in melanosome transport and cytotoxic granule exocytosis.
Gene(s) involved (3)
Symptoms & signs (5)
In plain terms, someone with Griscelli syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Chédiak–Higashi syndrome
hypopigmentation, silvery hair
1 shared
Ataxia-telangiectasia
immunodeficiency
1 shared
Bloom syndrome
immunodeficiency
1 shared
Cartilage–hair hypoplasia syndrome
immunodeficiency
1 shared
Chediak–Higashi syndrome
hemophagocytic lymphohistiocytosis
1 shared
Cross syndrome
hypopigmentation
1 shared
Folate malabsorption syndrome
immunodeficiency
1 shared
Hoyeraal–Hreidarsson syndrome
immunodeficiency
1 shared
Nijmegen breakage syndrome
immunodeficiency
1 shared
Trichohepatoenteric syndrome
immunodeficiency
Shares genes with
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