| H00509 | |
| H number | H00509 |
| Name | 3M syndrome |
| Description | The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1. |
| Category | Congenital malformation |
| Network | - |
| Gene | (3M1) CUL7 [HSA:9820] [KO:K10613] (3M2) OBSL1 [HSA:23363] [KO:K19574] (3M3) CCDC8 [HSA:83987] [KO:K17561] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.D ICD-10: Q87.1 MeSH: C535314 OMIM: 273750 612921 614205 |
| Reference | PMID:21396581 AUTHORS Huber C, Munnich A, Cormier-Daire V TITLE The 3M syndrome. JOURNAL Best Pract Res Clin Endocrinol Metab 25:143-51 (2011) DOI:10.1016/j.beem.2010.08.015 PMID:19225462 (CUL7) AUTHORS Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V TITLE A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. JOURNAL Eur J Hum Genet 17:395-400 (2009) DOI:10.1038/ejhg.2008.200 PMID:19481195 (OBSL1) AUTHORS Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE TITLE The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. JOURNAL Am J Hum Genet 84:801-6 (2009) DOI:10.1016/j.ajhg.2009.04.021 PMID:21737058 (CCDC8) AUTHORS Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC TITLE Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. JOURNAL Am J Hum Genet 89:148-53 (2011) DOI:10.1016/j.ajhg.2011.05.028 |