Details of Disease

General Information of Disease (ID: DIS2UD2J)

Disease Name Posterior urethral valve
Synonyms Posterior urethral valves; PUV; Posterior Urethral Valves; congenital posterior urethral valves
Definition
Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.
Disease Hierarchy
DISSTKG1: Fetal lower urinary tract obstruction
DIS2UD2J: Posterior urethral valve
Disease Identifiers
MONDO ID
MONDO_0019640
UMLS CUI
C0238506
MedGen ID
451008
HPO ID
HP:0010957
Orphanet ID
93110
SNOMED CT ID
253900005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC3A1 DTBCKVM Limited Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMIM10L2B OT04IG2N Limited Biomarker [2]
BNC2 OTU22H9Z Supportive Autosomal recessive [3]
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References

1 Low renin-angiotensin system activity gene polymorphism and dysplasia associated with posterior urethral valves.J Urol. 2005 Aug;174(2):713-7. doi: 10.1097/01.ju.0000164739.13408.e2.
2 Improvise, Adapt, Overcome: mobile phone LED used as a light source for cystoscopy and resection of posterior urethral valves in a low-cost setting.J Pediatr Urol. 2019 Feb;15(1):85-86. doi: 10.1016/j.jpurol.2018.11.012. Epub 2018 Nov 27.
3 Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023.