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Griscelli disease

Disease definition

Griscelli syndrome (GS) is characterised 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).

ORPHA:381

  • Synonym(s):
    • Chédiak-Higashi-like syndrome
    • Griscelli-Pruniéras syndrome
    • Partial albinism-immunodeficiency syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E70.3
  • OMIM: 214450  607624  609227
  • UMLS: -
  • MeSH: -
  • GARD: 10913
  • MedDRA: -

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