KEGG DISEASE: Dyskeratosis congenita

KEGG

DISEASE: Dyskeratosis congenita

Entry

H00507                      Disease

Name

Dyskeratosis congenita

Subgroup

X-linked dyskeratosis congenita (DKCX) [DS:H00788]
Autosomal dominant dyskeratosis congenita (DKCA)
Autosomal recessive dyskeratosis congenita (DKCB)
Revesz syndrome [DS:H00921]

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

Ribosomopathy

Brite

Human diseases [BR:br08402]
Other congenital disorders
  Ribosomopathies
   H00507  Dyskeratosis congenita
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H00507  Dyskeratosis congenita

Pathway

Ribosome biogenesis in eukaryotes

Network

nt06506 Double-strand break repair
nt06510 Telomere length regulation

Gene

(DKCX) DKC1 [HSA:1736] [KO:K11131]
(DKCA1) TERC [HSA:7012] [KO:K22183]
(DKCA2/B4) TERT [HSA:7015] [KO:K11126]
(DKCA3/A5) 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] [KO:K23314]
(DKCB6) PARN [HSA:5073] [KO:K01148]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

305000 127550 613989 613990 615190 616553 224230 613987 613988 616353

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

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

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

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

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

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

LinkDB

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