| H01579 | |
| H番号 | H01579 |
| 名称 | Michelin tire baby 症候群 |
| 概要 | Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described in 1969, then subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism, and cardiac and genital anomalies. It has been reported that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a beta-tubulin isotype that is expressed abundantly in the developing brain. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-10: Q82.8 MeSH: C537575 OMIM: 156610 616734 |
| 文献 | PMID:21381593 著者 Farooqi GA, Mulla SA, Ahmad M タイトル Michelin tire baby syndrome--a case report and literature review. 雑誌 J Pak Med Assoc 60:777-9 (2010) PMID:26637975 (TUBB, MAPRE2) 著者 Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H タイトル Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 雑誌 Am J Hum Genet 97:790-800 (2015) DOI:10.1016/j.ajhg.2015.10.014 |