| H00943 | |
| H number | H00943 |
| Name | TARP syndrome |
| Description | TARP syndrome is a disorder marked by early lethality. It comprises Talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava. It is inherited in an X-linked recessive pattern. Expression analysis of mouse orthologue of the causative gene revealed that the gene is expressed in the parts where malformations in TARP syndrome are observed, such as in the branchial arches and in the limb/tail bud regions. |
| Category | Congenital malformation |
| Network | - |
| Gene | RBM10 [HSA:8241] [KO:K13094] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536942 OMIM: 311900 |
| Reference | PMID:20451169 AUTHORS Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG TITLE Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. JOURNAL Am J Hum Genet 86:743-8 (2010) DOI:10.1016/j.ajhg.2010.04.007 PMID:21910224 AUTHORS Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG TITLE Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. JOURNAL Am J Med Genet A 155A:2516-20 (2011) DOI:10.1002/ajmg.a.34190 PMID:12794682 AUTHORS Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG TITLE Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. JOURNAL Am J Med Genet A 120A:1-4 (2003) DOI:10.1002/ajmg.a.10201 |