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

Name
Dyskeratosis congenita (DC), including:
X-linked dyskeratosis congenita (DKCX);
Autosomal dominant dyskeratosis congenita (DKCA);
Autosomal recessive dyskeratosis congenita (DKCB)
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]
(DKCA3) TINF2 [HSA:26277] [KO:K11112]
(DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136]
(DKCA6/B7) ACD [HSA:65057] [KO:K11114]
(DKCB1) NOP10 [HSA:55505] [KO:K11130]
(DKCB2) NHP2 [HSA:55651] [KO:K11129]
(DKCB3) WRAP53 [HSA:55135]
(DKCB6) PARN [HSA:5073] [KO:K01148]
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
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
Reference
PMID:21477109 (gene)
  Authors
Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA
  Title
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
  Journal
Clin Genet 81:470-8 (2012)
DOI:10.1111/j.1399-0004.2011.01658.x
Reference
PMID:25205116 (gene)
  Authors
Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM
  Title
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
  Journal
Blood 124:2767-74 (2014)
DOI:10.1182/blood-2014-08-596445
Reference
PMID:21205863 (gene)
  Authors
Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE
  Title
Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
  Journal
Genes Dev 25:11-6 (2011)
DOI:10.1101/gad.2006411
Reference
PMID:23329068 (gene)
  Authors
Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA
  Title
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
  Journal
Hum Genet 132:473-80 (2013)
DOI:10.1007/s00439-013-1265-8
Reference
PMID:26342108 (gene)
  Authors
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y
  Title
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
  Journal
J Med Genet 52:738-48 (2015)
DOI:10.1136/jmedgenet-2015-103292

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