| H00906 | |
| H番号 | H00906 |
| 名称 | MACS 症候群 |
| 概要 | Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity of joints, gingival hypertrophy, retrognathia with abnormal skull morphology, and severe scoliosis. Homozygous mutations in RIN2, a protein that is involved in the regulation of endocytosis, have been reported. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | RIN2 [HSA:54453] [KO:K23687] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD28.2 MeSH: C567770 OMIM: 613075 |
| 文献 | PMID:19631308 著者 Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E タイトル RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 雑誌 Am J Hum Genet 85:254-63 (2009) DOI:10.1016/j.ajhg.2009.07.001 PMID:20424861 著者 Syx D, Malfait F, Van Laer L, Hellemans J, Hermanns-Le T, Willaert A, Benmansour A, De Paepe A, Verloes A タイトル The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). 雑誌 Hum Genet 128:79-88 (2010) DOI:10.1007/s00439-010-0829-0 |