KEGG   DISEASE: Chediak-Higashi syndrome
Entry
H02021                      Disease                                
Name
Chediak-Higashi syndrome
  Supergrp
Other phagocyte defects [DS:H00101]
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Defects in lysosomal trafficking [DS:H02128]
Lysosomal storage disease [DS:H01425]
Description
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial skin and ocular albinism, increased susceptibility to infections, and progressive neuropathy. Clinical reports of CHS have identified mutations in the CHS1/LYST gene.
Category
Primary immunodeficiency
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H02021  Chediak-Higashi syndrome
Gene
LYST [HSA:1130] [KO:K22937]
Other DBs
ICD-11: EC23.20
MeSH: D002609
OMIM: 214500
Reference
PMID:15096561
  Authors
Lim MS, Elenitoba-Johnson KS.
  Title
The molecular pathology of primary immunodeficiencies.
  Journal
J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X
Reference
PMID:9215680
  Authors
Barbosa MD, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, Pastural E, Dufourcq-Lagelouse R, Fischer A, Holcombe RF, Wallace MR, Brandt SJ, de Saint Basile G, Kingsmore SF
  Title
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
  Journal
Hum Mol Genet 6:1091-8 (1997)
DOI:10.1093/hmg/6.7.1091
LinkDB

» Japanese version

DBGET integrated database retrieval system