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prune belly syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.
Uniprot Description A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities.
Disease Ontology Description A syndrome that has material basis in homozygous mutation in the CHRM3 gene on chromosome 1q43. It is characterized by megacystis (massively enlarged bladder) with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin.
Mondo Term and Equivalent IDs
MONDO:0007032:  prune belly syndrome
GARD:0007479: 
ICD9:756.71: 
MESH:D011535: 
NCIT:C85033: 
Orphanet:2970: 
SCTID:5187006: 
UMLS:C0033770: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)