| H00637 | |
| H番号 | H00637 |
| 名称 | Schinzel 症候群 |
| 概要 | Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder caused by haploinsufficiency of the TBX3 gene. It is characterized by bilateral hypoplasia or aplasia of upper limbs on the ulnar side, mammary and apocrine gland hypoplasia, and genital abnormalities. Delayed puberty is one of the recognized features in UMS. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | TBX3 [HSA:6926] [KO:K10177] |
| 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: Q71.8 MeSH: C536937 OMIM: 181450 |
| 文献 | PMID:19938096 著者 Linden H, Williams R, King J, Blair E, Kini U タイトル Ulnar Mammary syndrome and TBX3: expanding the phenotype. 雑誌 Am J Med Genet A 149A:2809-12 (2009) DOI:10.1002/ajmg.a.33096 PMID:21199695 著者 Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J タイトル The face of Ulnar Mammary syndrome? 雑誌 Eur J Med Genet 54:301-5 (2011) DOI:10.1016/j.ejmg.2010.12.010 PMID:16896345 著者 Klopocki E, Neumann LM, Tonnies H, Ropers HH, Mundlos S, Ullmann R タイトル Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. 雑誌 Eur J Hum Genet 14:1274-9 (2006) DOI:10.1038/sj.ejhg.5201696 PMID:9207801 著者 Bamshad M, Lin RC, Law DJ, Watkins WC, Krakowiak PA, Moore ME, Franceschini P, Lala R, Holmes LB, Gebuhr TC, Bruneau BG, Schinzel A, Seidman JG, Seidman CE, Jorde LB タイトル Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. 雑誌 Nat Genet 16:311-5 (1997) DOI:10.1038/ng0797-311 |