| H00788 | |
| H number | H00788 |
| Name | Hoyeraal-Hreidarsson syndrome; X-linked dyskeratosis congenita |
| 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 |
| Network | - |
| Gene | DKC1 [HSA:1736] [KO:K11131] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A70.0 ICD-10: D61.0 MeSH: C536068 OMIM: 305000 |
| Reference | PMID:14648217 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 PMID:20205257 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 |