KEGG DISEASE: Scalp-ear-nipple syndrome

KEGG

DISEASE: Scalp-ear-nipple syndrome

Entry

H02691                      Disease

Name

Scalp-ear-nipple syndrome

Description

Scalp-ear-nipple syndrome (SENS) is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. It has been reported that mutations in KCTD1 cause this disease. KCTD1 inhibits the transactivation of the transcription factor AP-2a via its BTB domain.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02691  Scalp-ear-nipple syndrome

Gene

KCTD1 [HSA:284252] [KO:K21754]

Other DBs

ICD-11:

ICD-10:

OMIM:

Reference

Authors

Baris H, Tan WH, Kimonis VE

Title

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.

Journal

Am J Med Genet A 134A:220-2 (2005)
DOI:10.1002/ajmg.a.30612

Reference

Authors

Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ

Title

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Journal

Am J Hum Genet 92:621-6 (2013)
DOI:10.1016/j.ajhg.2013.03.002

LinkDB

» Japanese version

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