KEGG DISEASE: Prune belly syndrome

DISEASE: Prune belly syndrome

Entry

H02129                      Disease

Name

Prune belly syndrome;
Triad syndrome;
Eagle-Barret syndrome;
Abdominal musculature deficiency syndrome

Description

Prune belly syndrome (PBS) is a rare congenital anomaly characterized by deficient or absent abdominal wall musculature, hypotonia, ectasia of the urinary system, and bilateral intra-abdominal testes. A homozygous loss-of-function mutation of muscarinic acetylcholine receptor M3 (CHRM3) has been described from patients with a PBS-like syndrome. CHRM3 encodes the major receptor mediating urinary bladder contraction upon micturition.

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
    H02129  Prune belly syndrome

Pathway

hsa04080

Neuroactive ligand-receptor interaction

hsa04020

Calcium signaling pathway

Gene

CHRM3 [HSA:1131] [KO:K04131]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:4382958

Authors

Williams DI, Burkholder GV

Title

The prune belly syndrome.

Journal

J Urol 98:244-51 (1967)
DOI:10.1016/S0022-5347(17)62864-7

Reference

PMID:22077972

Authors

Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmuller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nurnberg P, Woolf AS

Title

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Journal

Am J Hum Genet 89:668-74 (2011)
DOI:10.1016/j.ajhg.2011.10.007

Reference

PMID:24909464

Authors

Ekwunife OH, Ugwu JO, Modekwe V

Title

Prune belly syndrome: early management outcome of nine consecutive cases.

Journal

Niger J Clin Pract 17:425-30 (2014)
DOI:10.4103/1119-3077.134012

Reference

PMID:22198807

Authors

Hassett S, Smith GH, Holland AJ

Title

Prune belly syndrome.

Journal

Pediatr Surg Int 28:219-28 (2012)
DOI:10.1007/s00383-011-3046-6

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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