| H00637 | |
| H number | H00637 |
| Name | Ulnar-mammary syndrome; Schinzel syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | TBX3 [HSA:6926] [KO:K10177] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q71.8 MeSH: C536937 OMIM: 181450 |
| Reference | PMID:19938096 AUTHORS Linden H, Williams R, King J, Blair E, Kini U TITLE Ulnar Mammary syndrome and TBX3: expanding the phenotype. JOURNAL Am J Med Genet A 149A:2809-12 (2009) DOI:10.1002/ajmg.a.33096 PMID:21199695 AUTHORS Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J TITLE The face of Ulnar Mammary syndrome? JOURNAL Eur J Med Genet 54:301-5 (2011) DOI:10.1016/j.ejmg.2010.12.010 PMID:16896345 AUTHORS Klopocki E, Neumann LM, Tonnies H, Ropers HH, Mundlos S, Ullmann R TITLE Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. JOURNAL Eur J Hum Genet 14:1274-9 (2006) DOI:10.1038/sj.ejhg.5201696 PMID:9207801 AUTHORS 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 TITLE Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. JOURNAL Nat Genet 16:311-5 (1997) DOI:10.1038/ng0797-311 |