KEGG DISEASE: Congenital megabladder

KEGG

DISEASE: Congenital megabladder

Entry

H02495                      Disease

Name

Congenital megabladder

Description

Congenital megabladder (MGBL) is characterized by a massively dilated urinary bladder with disrupted smooth muscle in its wall. It has been reported that loss of function mutations in myocardin cause this disease. Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the urinary system
    LB31  Structural developmental anomalies of urinary tract
     H02495  Congenital megabladder

Gene

MYOCD [HSA:93649] [KO:K22526]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Houweling AC, Beaman GM, Postma AV, Gainous TB, Lichtenbelt KD, Brancati F, Lopes FM, van der Made I, Polstra AM, Robinson ML, Wright KD, Ellingford JM, Jackson AR, Overwater E, Genesio R, Romano S, Camerota L, D'Angelo E, Meijers-Heijboer EJ, Christoffels VM, McHugh KM, Black BL, Newman WG, Woolf AS, Creemers EE

Title

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Journal

J Clin Invest 129:5374-5380 (2019)
DOI:10.1172/JCI128545

Reference

Authors

Huang J, Wang T, Wright AC, Yang J, Zhou S, Li L, Yang J, Small A, Parmacek MS

Title

Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development.

Journal

Proc Natl Acad Sci U S A 112:4447-52 (2015)
DOI:10.1073/pnas.1420363112

LinkDB

» Japanese version

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