KEGG   DISEASE: Dyskeratosis congenita (DC)Help
Entry
H00507                      Disease                                

Name
Dyskeratosis congenita (DC), including:
X-linked dyskeratosis congenita (DKCX);
Autosomal dominant dyskeratosis congenita (DKCA1);
Autosomal recessive dyskeratosis congenita (DKCB1)
Description
Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while autosomal dominant and autosomal recessive forms have been reported. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. Moreover, dyskeratosis congenita is linked to defective ribosome biogenesis.
Category
Congenital disorder of development; Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00507  Dyskeratosis congenita (DC)
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q82  Other congenital malformations of skin
    H00507  Dyskeratosis congenita (DC)
BRITE hierarchy
Pathway
hsa03008 Ribosome biogenesis in eukaryotes  
 
Gene
(DKCX) DKC1 [HSA:1736] [KO:K11131]
(DKCA1) TERC [HSA:7012]
(DKCA2/B4) TERT [HSA:7015] [KO:K11126]
(DKCB1) NOP10 [HSA:55505] [KO:K11130]
(DKCB1) NHP2 [HSA:55651] [KO:K11129]
Comment
Two variants of dyskeratosis congenita has been reported  in which additional findings including cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome, H00788) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome, H00921) exist.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Kirwan M, Dokal I
  Title
Dyskeratosis congenita: a genetic disorder of many faces.
  Journal
Clin Genet 73:103-12 (2008)
DOI:10.1111/j.1399-0004.2007.00923.x
Reference
  Authors
Trahan C, Martel C, Dragon F
  Title
Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
  Journal
Hum Mol Genet 19:825-36 (2010)
DOI:10.1093/hmg/ddp551
Reference
  Authors
Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T
  Title
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
  Journal
Haematologica 93:943-4 (2008)
DOI:10.3324/haematol.12317
Reference
  Authors
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I
  Title
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
  Journal
Blood 110:4198-205 (2007)
DOI:10.1182/blood-2006-12-062851

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