PUV
MCID: PST041
MIFTS: 40

Posterior Urethral Valves (PUV)

Categories: Fetal diseases, Nephrological diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Posterior Urethral Valves

MalaCards integrated aliases for Posterior Urethral Valves:

Name: Posterior Urethral Valves 19 75
Congenital Posterior Urethral Valves 71 31
Posterior Urethral Valve 58 75
Puv 58

Characteristics:


Inheritance:

Posterior Urethral Valve: Autosomal recessive,X-linked recessive 58

Prevelance:

Posterior Urethral Valve: 1-9/100000 (Europe, Europe, Australia) 58

Age Of Onset:

Posterior Urethral Valve: All ages 58

Age Of Death:

Posterior Urethral Valve: early childhood 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 31 Q64.2
ICD10 via Orphanet 32 Q64.2
UMLS via Orphanet 72 C0238506 C0542520
Orphanet 58 ORPHA93110
UMLS 71 C0238506

Summaries for Posterior Urethral Valves

GARD: 19 A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.

MalaCards based summary: Posterior Urethral Valves, also known as congenital posterior urethral valves, is related to congenital anomalies of kidney and urinary tract 2 and vesicoureteral reflux. An important gene associated with Posterior Urethral Valves is BNC2 (Basonuclin 2). The drugs Oxybutynin and Muscarinic Antagonists have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and liver, and related phenotypes are recurrent urinary tract infections and congenital posterior urethral valve

Orphanet: 58 A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.

Wikipedia: 75 Posterior urethral valve (PUV) disorder is an obstructive developmental anomaly in the urethra and... more...

Related Diseases for Posterior Urethral Valves

Diseases in the Anterior Urethral Valve family:

Posterior Urethral Valves

Diseases related to Posterior Urethral Valves via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 158)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 2 31.4 TBX18 DSTYK
2 vesicoureteral reflux 30.7 TBX18 DSTYK
3 chronic kidney disease 30.2 TBX18 NRIP1 DSTYK
4 cakut 28.9 ZNG1A TBX18 NRIP1 DSTYK
5 lower urinary tract obstruction, congenital 11.5
6 congenital anomalies of kidney and urinary tract 1 11.4
7 congenital anomalies of kidney and urinary tract 3 11.3
8 urinary tract infection 11.0
9 urinary tract obstruction 10.9
10 end stage renal disease 10.9
11 hydronephrosis 10.9
12 renal dysplasia 10.9
13 urethral stricture 10.8
14 bladder neck obstruction 10.8
15 oligohydramnios 10.8
16 kidney disease 10.7
17 prune belly syndrome 10.5
18 hypospadias 10.5
19 bladder diverticulum 10.5
20 cryptorchidism, unilateral or bilateral 10.5
21 down syndrome 10.5
22 urinary tract infections, recurrent 10.5
23 anterior urethral valve 10.4
24 pyelonephritis 10.4
25 uremia 10.4
26 fetal lower urinary tract obstruction 10.4
27 pneumothorax, primary spontaneous 10.3
28 anus, imperforate 10.3
29 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.3
30 pneumothorax 10.3
31 impotence 10.3
32 cystic kidney disease 10.3
33 acute kidney failure 10.3
34 47 xxx syndrome 10.3
35 duplication of urethra 10.3
36 renal hypodysplasia/aplasia 1 10.3
37 ceroid lipofuscinosis, neuronal, 5 10.3
38 renal hypoplasia 10.3
39 bladder calculus 10.3
40 enterocele 10.3
41 urethral diverticulum 10.3
42 49, xxxxy syndrome 10.3
43 49,xxxxx syndrome 10.3
44 atresia of urethra 10.3
45 49,xyyyy syndrome 10.3
46 infertility 10.2
47 hair whorl 10.2
48 deficiency anemia 10.2
49 inguinal hernia 10.2
50 b-lymphoblastic leukemia/lymphoma 10.2

Graphical network of the top 20 diseases related to Posterior Urethral Valves:



Diseases related to Posterior Urethral Valves

Symptoms & Phenotypes for Posterior Urethral Valves

Human phenotypes related to Posterior Urethral Valves:

58 30 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000010
2 congenital posterior urethral valve 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010957
3 vesicoureteral reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0000076
4 hydronephrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000126
5 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
6 postnatal growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008897
7 stage 5 chronic kidney disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003774
8 pyelonephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012330
9 urinary incontinence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000020
10 fetal pyelectasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010945
11 enuresis nocturna 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010677
12 unilateral renal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008718
13 hypertelorism 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000316
14 abnormal nasal morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005105
15 retrognathia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000278
16 urethral stenosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008661
17 lethargy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001254
18 oligohydramnios 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001562
19 dysuria 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100518
20 urinary retention 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000016
21 renal insufficiency 58 Occasional (29-5%)
22 chronic kidney disease 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Posterior Urethral Valves according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.23 NRIP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.23 DSTYK
3 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.23 NRIP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.23 DSTYK NRIP1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.23 NRIP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.23 DSTYK
7 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.23 DSTYK

Drugs & Therapeutics for Posterior Urethral Valves

Drugs for Posterior Urethral Valves (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxybutynin Approved, Investigational Phase 2 5633-20-5 4634
2 Muscarinic Antagonists Phase 2
3 Parasympatholytics Phase 2
4 Liver Extracts Phase 2
5 Cholinergic Antagonists Phase 2
6 Cholinergic Agents Phase 2
7 Neurotransmitter Agents Phase 2
8 Anti-Infective Agents
9 Antibiotics, Antitubercular
10 Anti-Bacterial Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Randomized Clinical Trial of Early Oxybutinin Treatment for Boys With Posterior Urethral Valves Not yet recruiting NCT04526353 Phase 2 Oxybutynin 1 mg/ml Syrup
2 Effect of Circumcision on the Risk of Febrile Urinary Tract Infections in Children With Posterior Urethral Valves. Unknown status NCT01537601
3 Multicentre Validation of a Fetal Urine Peptidome-based Classifier to Predict Post-natal Renal Function in Posterior Urethral Valves Recruiting NCT03116217
4 Effect of Overnight Bladder Drainage on Posterior Urethral Valve Sequelae: A Randomized Controlled Trial Recruiting NCT05168358
5 Concomitant Renal and Urinary Bladder Allograft Transplantation Recruiting NCT04626167 Early Phase 1
6 Effect of Concomitant Bladder Neck Incision and Urethral Valve Ablation on Surgical Re-intervention Rate for Patients With Posterior Urethral Valve : A Randomized Controlled Trial Active, not recruiting NCT05087537

Search NIH Clinical Center for Posterior Urethral Valves

Genetic Tests for Posterior Urethral Valves

Anatomical Context for Posterior Urethral Valves

Organs/tissues related to Posterior Urethral Valves:

MalaCards : Lung, Kidney, Liver, Appendix, Smooth Muscle, Spinal Cord, Prostate

Publications for Posterior Urethral Valves

Articles related to Posterior Urethral Valves:

(show top 50) (show all 1615)
# Title Authors PMID Year
1
Clinical spectrum and management options for prostatic utricle in children. 62
35101262 2022
2
[Relationship between valve ablation and bladder function in children with posterior urethral valves disorder]. 62
36229206 2022
3
Pop-off mechanisms as protective factors against chronic renal disease in children with posterior urethral valves. 62
36217788 2022
4
Operative Volume of Newborn Surgery in German University Hospitals: High Volume Versus Low Volume Centers. 62
35026856 2022
5
Long-term outcomes of augmentation cystoplasty: A retrospective view of 54 children. 62
35780052 2022
6
Retrograde urethrogram - a novel approach to diagnosing a posterior urethral polyp in a neonate. 62
36255454 2022
7
Surgical management of the posterior urethral valve in children. 62
35577649 2022
8
The benefits of circumcision in boys with posterior urethral valves. 62
36089807 2022
9
The risk factors of influencing postoperative bladder function in children with posterior urethral valve: A retrospective cohort study of 23 children. 62
35562211 2022
10
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves. 62
36124557 2022
11
Comparison of outcomes of prenatal versus postnatal presentation of posterior urethral valves: a systematic review and meta-analysis. 62
35943527 2022
12
Congenital anterior urethral valves and diverticulum: A case series and association with posterior urethral valves. 62
36123286 2022
13
Pre-versus postnatal presentation of posterior urethral valves: a multi-institutional experience. 62
35142035 2022
14
Clinical profile of children with posterior urethral valve at Tertiary Care Center. 62
36246682 2022
15
Mid-short-term risk factors for chronic renal failure in children with posterior urethral valve. 62
35779105 2022
16
Family Reflections: Living with, but not defined by: Posterior urethral valves, chronic kidney disease and kidney transplant. 62
35501372 2022
17
Novel Biomarkers for Posterior Urethral Valve. 62
35927803 2022
18
Chronic Kidney Disease in Boys with Posterior Urethral Valves-Pathogenesis, Prognosis and Management. 62
36009441 2022
19
New challenges of fetal therapy in Japan. 62
35676616 2022
20
Publication landscape of Posterior urethral valve- A scientometric study. 62
36167650 2022
21
Editorial comment on "Posterior urethral morphology on initial voiding cystourethrogram correlates to early renal outcomes in infants with posterior urethral valves". 62
35948452 2022
22
Health Worker (HW) Factors in Delayed Access to Pediatric Surgery in Low- and Middle-Income Countries (LMICs). 62
35859481 2022
23
Concomitant anterior urethral valve, distal urethral diverticulum and posterior urethral valve with five-year follow up; A case report and literature review. 62
35311025 2022
24
Congenital megaureter presenting as intraabdominal cystic masses in a pediatric patient at Hasan Sadikin hospital: A case report. 62
35586169 2022
25
Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report. 62
35504454 2022
26
Deep learning imaging features derived from kidney ultrasounds predict chronic kidney disease progression in children with posterior urethral valves. 62
35867160 2022
27
Persistent Anhydramnios and Lower Urinary Tract Obstruction in a Patient With a Vesicoamniotic Shunt. 62
34843749 2022
28
Experience with the use of mohan's valvotome for posterior urethral valve ablation at a centre in North-Eastern Nigeria. 62
35775514 2022
29
Catheter test: A reliable alternative to assess adequacy of bladder management in patients of PUV in developing countries. 62
35504816 2022
30
Tubular and glomerular biomarkers of renal tissue function in the urine of fetuses with posterior urethral valves. 62
35400574 2022
31
Predicting childhood chronic kidney disease severity in infants with posterior urethral valve: a critical analysis of creatinine values in the first year of life. 62
34716802 2022
32
Preliminary experience in endoscopic section of posterior urethral valves using the Holmium: YAG laser. 62
35477665 2022
33
Risk factors for end stage renal disease in children with anorectal malformation and outcome comparison to children with isolated urological anomalies. 62
35842394 2022
34
Prenatally Diagnosed Posterior Urethral Valves: Ethical Dilemmas of Fetal Intervention. 62
35680050 2022
35
Role of progressive urethral dilation and primary valve ablation in the long-term renal outcomes of small, preterm infants with posterior urethral valve. 62
35780046 2022
36
Bladder height width ratio on voiding cystourethrogram as a predictor of future valve bladder in children with posterior urethral valve. 62
35419631 2022
37
A Rare Cause of Ascites in Preterm Baby: A Case Report. 62
35784966 2022
38
Posterior urethral morphology on initial voiding cystourethrogram correlates to early renal outcomes in infants with posterior urethral valves. 62
35840456 2022
39
Use of Eculizumab in Pediatric Patients with Late Antibody-Mediated Rejection After Kidney Transplantation. 62
35570600 2022
40
Posterior Urethral Valves Outcomes Prediction (PUVOP): a machine learning tool to predict clinically relevant outcomes in boys with posterior urethral valves. 62
34686914 2022
41
Rare case of inguinal ureteral hernia in a child diagnosed by drip infusion pyelography-computed tomography. 62
35417833 2022
42
Urologic Considerations in Pediatric Chronic Kidney Disease. 62
36084977 2022
43
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. 62
35227688 2022
44
Can real-time near-infrared spectroscopy monitoring detect graft venous thrombosis after pediatric kidney transplantation? 62
34918432 2022
45
Outcome of boys with posterior urethral valves from a single tertiary hospital in Singapore. 62
35072328 2022
46
Can Concomitant Bladder Neck Incision and Primary Valve Ablation Reduce Early Re-admission Rate and Secondary Intervention? 62
35168311 2022
47
Nadir creatinine predicts long-term bladder function in boys with posterior urethral valves. 62
35184944 2022
48
Posterior urethral valves and urachal cyst: an unusual combination. 62
35418380 2022
49
Reply to Abhay Singh and Prasant Nayak's Letter to the Editor re: Luke Harper, T. Blanc, M. Peycelon, et al. Circumcision and Risk of Febrile Urinary Tract Infection in Boys with Posterior Urethral Valves: Result of the CIRCUP Randomized Trial. Eur Urol. 2022;81:64-72. 62
34893360 2022
50
Reply to Deepansh Dalela and Kristina Suson's Letter to the Editor re: Luke Harper, T. Blanc, M. Peycelon, et al. Circumcision and Risk of Febrile Urinary Tract Infection in Boys with Posterior Urethral Valves: Result of the CIRCUP Randomized Trial. Eur Urol. 2022;81:64-72. 62
34937678 2022

Variations for Posterior Urethral Valves

Expression for Posterior Urethral Valves

Search GEO for disease gene expression data for Posterior Urethral Valves.

Pathways for Posterior Urethral Valves

GO Terms for Posterior Urethral Valves

Sources for Posterior Urethral Valves

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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