| H00921 | |
| H number | H00921 |
| Name | Revesz syndrome; Dyskeratosis congenita, autosomal dominant 5; Exudative retinopathy with bone marrow failure |
| Description | Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral calcification, and progressive psychomotor retardation. Revesz syndrome has many of the features of dyskeratosis congenita. Exudative retinopathy is a diagnostic criterion to establish the diagnosis. |
| Category | Congenital malformation |
| Network | - |
| Gene | TINF2 [HSA:26277] [KO:K11112] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3A70.0 ICD-10: Q82.8 MeSH: C538371 OMIM: 268130 |
| Reference | PMID:17901676 AUTHORS Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS TITLE Revesz syndrome. JOURNAL Indian J Pediatr 74:862-3 (2007) DOI:10.1007/s12098-007-0155-2 PMID:20301779 AUTHORS Savage SA TITLE Dyskeratosis Congenita JOURNAL GeneReviews (1993) PMID:18669893 AUTHORS Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I TITLE TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. JOURNAL Blood 112:3594-600 (2008) DOI:10.1182/blood-2008-05-153445 PMID:1404302 AUTHORS Revesz T, Fletcher S, al-Gazali LI, DeBuse P TITLE Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? JOURNAL J Med Genet 29:673-5 (1992) DOI:10.1136/jmg.29.9.673 |