KEGG DISEASE: Hoyeraal-Hreidarsson syndrome

KEGG

DISEASE: Hoyeraal-Hreidarsson syndrome

Entry

H00788                      Disease

Name

Hoyeraal-Hreidarsson syndrome;
X-linked dyskeratosis congenita

Supergrp

Dyskeratosis congenita [DS:H00507]

Description

Hoyeraal-Hreidarsson syndrome is an X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita. It is a multisystem disorder characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, bone marrow failure associated with immunodeficiency. A missense mutation in the DKC1 gene and premature short telomeres were found in the disease.

Category

Ribosomopathy

Brite

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
    H00788  Hoyeraal-Hreidarsson syndrome

Pathway

Ribosome biogenesis in eukaryotes

Gene

DKC1 [HSA:1736] [KO:K11131]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A

Title

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

Journal

Eur J Pediatr 162:863-7 (2003)
DOI:10.1007/s00431-003-1317-5

Reference

Authors

Valera ET, Brassesco MS, Roxo P Jr, Lourenco CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET

Title

Genomic instability in Hoyeraal-Hreidarsson syndrome.

Journal

Pediatr Blood Cancer 54:779-80 (2010)
DOI:10.1002/pbc.22446

LinkDB

» Japanese version

DBGET integrated database retrieval system