| H00965 | |
| H number | H00965 |
| Name | RAPADILINO syndrome |
| Description | RAPADILINO syndrome is an abbreviation of its hallmark features: radial hypo-/aplasia, patellae hypo-/aplasia and cleft or highly arched palate, diarrhoea and dislocated joints, little size and limb malformation, nose slender and normal intelligence. It is an autosomal recessive disorder caused by mutations in human DNA helicase RECQL4. Unlike its allelic disorders Rothmund-Thomson syndrome and Baller-Gerold syndrome, RAPADILINO syndrome lacks poikiloderma. |
| Category | Congenital malformation |
| Network | nt06509(H00965) DNA replication |
| Gene | RECQL4 [HSA:9401] [KO:K10730] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Disorder of DNA repair system |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.1 MeSH: C535288 OMIM: 266280 |
| Reference | PMID:18716613 AUTHORS Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kaariainen H, Kestila M TITLE The mutation spectrum in RECQL4 diseases. JOURNAL Eur J Hum Genet 17:151-8 (2009) DOI:10.1038/ejhg.2008.154 PMID:16617241 AUTHORS Kellermayer R TITLE The versatile RECQL4. JOURNAL Genet Med 8:213-6 (2006) DOI:10.1097/01.gim.0000214457.58378.1a PMID:17364146 AUTHORS Dietschy T, Shevelev I, Stagljar I TITLE The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress. JOURNAL Cell Mol Life Sci 64:796-802 (2007) DOI:10.1007/s00018-007-6468-5 PMID:12952869 AUTHORS Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M TITLE Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. JOURNAL Hum Mol Genet 12:2837-44 (2003) DOI:10.1093/hmg/ddg306 |