KEGG DISEASE: Ulnar-mammary syndrome

KEGG

DISEASE: Ulnar-mammary syndrome

Entry

H00637                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00637  Ulnar-mammary syndrome

Gene

TBX3 [HSA:6926] [KO:K10177]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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