KEGG DISEASE: McKusick-Kaufman syndrome

KEGG

DISEASE: McKusick-Kaufman syndrome

Entry

H02180                      Disease

Name

McKusick-Kaufman syndrome

Description

McKusick-Kaufman syndrome (MKKS) is a rare, autosomal recessive syndrome reported mainly in infants and is characterised by vaginal atresia with hydrometrocolpos, postaxial polydactyly, and congenital heart defect. It is caused by mutations in the MKKS gene, that encodes centrosome-shuttling protein.

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
    H02180  McKusick-Kaufman syndrome

Gene

MKKS [HSA:8195] [KO:K09492]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, Verloes A

Title

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

Journal

J Med Genet 36:599-603 (1999)
DOI:10.1136/jmg.36.8.599

Reference

Authors

Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG

Title

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.

Journal

Hum Genet 110:561-7 (2002)
DOI:10.1007/s00439-002-0733-3

Reference

Authors

Hirayama S, Yamazaki Y, Kitamura A, Oda Y, Morito D, Okawa K, Kimura H, Cyr DM, Kubota H, Nagata K

Title

MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

Journal

Mol Biol Cell 19:899-911 (2008)
DOI:10.1091/mbc.e07-07-0631

LinkDB

» Japanese version

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