| H00943 | |
| H番号 | H00943 |
| 名称 | TARP 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | RBM10 [HSA:8241] [KO:K13094] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536942 OMIM: 311900 |
| 文献 | PMID:20451169 著者 Johnston JJ, Teer JK, Cherukuri PF, Hansen NF, Loftus SK, Chong K, Mullikin JC, Biesecker LG タイトル Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate. 雑誌 Am J Hum Genet 86:743-8 (2010) DOI:10.1016/j.ajhg.2010.04.007 PMID:21910224 著者 Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG タイトル Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. 雑誌 Am J Med Genet A 155A:2516-20 (2011) DOI:10.1002/ajmg.a.34190 PMID:12794682 著者 Kurpinski KT, Magyari PA, Gorlin RJ, Ng D, Biesecker LG タイトル Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients. 雑誌 Am J Med Genet A 120A:1-4 (2003) DOI:10.1002/ajmg.a.10201 |