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Chediak-Higashi syndrome

Orpha number ORPHA167
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • E70.3
OMIM
UMLS
  • C0007965
MeSH
  • D002609
MedDRA
  • 10008415
SNOMED CT
  • 111396008

Summary

Chediak-Higashi's syndrome is a very rare recessive autosomal disease. Patients present with a combination of oculocutaneous albinism with decreased pigmentation, silvery-blond hair, hepatosplenomegaly, ganglionic hypertrophia and recurrent pyogenic cutaneo-respiratory infections. These signs result from functional anomalies of polynuclear cells, which contain large characteristic lysosomal inclusions, and from Natural Killer (NK) lymphocytes deficiency. Vital prognostic is very severe. The CHS gene was localised to the long arm of chromosome 1, 1q42.1-q42.2. An animal model of the disease, the beige mouse, allowed the discovery of a gene encoding LYST protein, whose function remains unknown.

Expert reviewer(s)

  • Dr Claudine BLANCHET-BARDON
Last update: January 2005

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Detailed information
Clinical genetics review
  • EN (2012)
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