| H00511 | |
| H number | H00511 |
| Name | Short rib-polydactyly syndrome |
| Description | Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened tubular bones, and other malformations such as cleft lip/palate. |
| Category | Congenital malformation |
| Network | - |
| Gene | (SRPS1/2B/3) DYNC2H1 [HSA:79659] [KO:K10414] (SRPS2A) NEK1 [HSA:4750] [KO:K08857] (SRPS5) WDR35 [HSA:57539] [KO:K19674] (SRPS6) DYNC2I1 [HSA:55112] [KO:K22869] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.B0 ICD-10: Q77.2 MeSH: D012779 OMIM: 613091 263520 614091 615503 |
| Reference | PMID:19361615 (DYNC2H1) AUTHORS Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA, Schibler MJ, Firestein MH, Cohn ZA, Priore MA, Thompson AK, Rimoin DL, Nelson SF, Cohn DH, Krakow D TITLE Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. JOURNAL Am J Hum Genet 84:542-9 (2009) DOI:10.1016/j.ajhg.2009.03.015 PMID:19442771 (DYNC2H1) AUTHORS Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V TITLE DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. JOURNAL Am J Hum Genet 84:706-11 (2009) DOI:10.1016/j.ajhg.2009.04.016 PMID:21211617 (NEK1) AUTHORS Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stoss H, Beinder E, Abou Jamra R, Ekici AB, Schroder-Kress N, Aigner T, Kirchner T, Reis A, Brandstatter JH, Rauch A TITLE NEK1 mutations cause short-rib polydactyly syndrome type majewski. JOURNAL Am J Hum Genet 88:106-14 (2011) DOI:10.1016/j.ajhg.2010.12.004 PMID:28400947 (WDR35) AUTHORS Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D TITLE Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. JOURNAL Cilia 6:7 (2017) DOI:10.1186/s13630-017-0051-y PMID:23910462 (DYNC2I1) AUTHORS McInerney-Leo AM, Schmidts M, Cortes CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C TITLE Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. JOURNAL Am J Hum Genet 93:515-23 (2013) DOI:10.1016/j.ajhg.2013.06.022 |