LUTO
MCID: LWR018
MIFTS: 28

Lower Urinary Tract Obstruction, Congenital (LUTO)

Categories: Genetic diseases, Nephrological diseases
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Aliases & Classifications for Lower Urinary Tract Obstruction, Congenital

MalaCards integrated aliases for Lower Urinary Tract Obstruction, Congenital:

Name: Lower Urinary Tract Obstruction, Congenital 57 73 28 5 38
Luto 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
intrafamilial variability
variable age at onset of symptoms
diagnosed in utero in some patients


Classifications:



Summaries for Lower Urinary Tract Obstruction, Congenital

UniProtKB/Swiss-Prot: 73 A disorder characterized by urinary bladder outflow obstruction, which can represent an anatomical blockage or a functional obstruction. The most common anatomical causes are posterior urethral valves at the level of the prostatic urethra, a lesion unique to males. Less common are anterior urethral valves, also called urethral atresia, that can occur in either sex. LUTO is an autosomal dominant disease with variable expression.

MalaCards based summary: Lower Urinary Tract Obstruction, Congenital, also known as luto, is related to fetal lower urinary tract obstruction and posterior urethral valves. An important gene associated with Lower Urinary Tract Obstruction, Congenital is BNC2 (Basonuclin 2). Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and urethral stenosis

OMIM®: 57 Congenital lower urinary tract obstruction (LUTO) is characterized by anatomic blockage of bladder outflow due to urethral stenosis, which may be caused by posterior urethral valves in some families (Kolvenbach et al., 2019). (618612) (Updated 08-Dec-2022)

Related Diseases for Lower Urinary Tract Obstruction, Congenital

Diseases related to Lower Urinary Tract Obstruction, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 fetal lower urinary tract obstruction 11.2
2 posterior urethral valves 11.1
3 atresia of urethra 11.0
4 prune belly syndrome 10.9
5 anterior urethral valve 10.9
6 urinary tract obstruction 10.5
7 oligohydramnios 10.0
8 sotos syndrome 9.9
9 beckwith-wiedemann syndrome 9.9
10 visceral myopathy 1 9.9
11 down syndrome 9.9
12 anus, imperforate 9.9
13 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 9.9
14 microcolon 9.9
15 orofaciodigital syndrome viii 9.9
16 preterm premature rupture of the membranes 9.9
17 hydronephrosis 9.9
18 patau syndrome 9.9
19 bladder neck obstruction 9.9
20 turner syndrome 9.9
21 end stage renal disease 9.9
22 fetal macrosomia 9.9
23 overgrowth syndrome 9.9

Graphical network of the top 20 diseases related to Lower Urinary Tract Obstruction, Congenital:



Diseases related to Lower Urinary Tract Obstruction, Congenital

Symptoms & Phenotypes for Lower Urinary Tract Obstruction, Congenital

Human phenotypes related to Lower Urinary Tract Obstruction, Congenital:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 30 Very rare (1%) HP:0000076
2 urethral stenosis 30 Very rare (1%) HP:0008661
3 congenital posterior urethral valve 30 Very rare (1%) HP:0010957
4 urinary incontinence 30 Very rare (1%) HP:0000020
5 pollakisuria 30 Very rare (1%) HP:0100515

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Bladder:
vesicoureteral reflux
urethral stenosis
urinary incontinence
nocturia
posterior urethral valve
more
Genitourinary Kidneys:
renal hypodysplasia (in 1 patient)

Clinical features from OMIM®:

618612 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lower Urinary Tract Obstruction, Congenital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fetal Cystoscopy for Severe Lower Urinary Tract Obstruction (LUTO): A Prospective Trial Recruiting NCT03281798

Search NIH Clinical Center for Lower Urinary Tract Obstruction, Congenital

Genetic Tests for Lower Urinary Tract Obstruction, Congenital

Genetic tests related to Lower Urinary Tract Obstruction, Congenital:

# Genetic test Affiliating Genes
1 Lower Urinary Tract Obstruction, Congenital 28 BNC2

Anatomical Context for Lower Urinary Tract Obstruction, Congenital

Organs/tissues related to Lower Urinary Tract Obstruction, Congenital:

MalaCards : Kidney

Publications for Lower Urinary Tract Obstruction, Congenital

Articles related to Lower Urinary Tract Obstruction, Congenital:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. 62 57 5
31051115 2019
2
Obstetric outcomes after fetal intervention - a single-center descriptive review. 62
36411675 2022
3
Fetal therapy of LUTO (lower urinary tract obstruction) - a follow-up observational study. 62
34652254 2022
4
Fetal Megacystis in the first trimester: Comparing management and outcomes between longitudinal bladder length groups. 62
36372362 2022
5
Prenatally Diagnosed Posterior Urethral Valves: Ethical Dilemmas of Fetal Intervention. 62
35680050 2022
6
Reply to 'Management of very young fetuses with LUTO'. 62
35882995 2022
7
Management of very young fetuses with LUTO. 62
35882994 2022
8
Chronic Kidney Disease in Boys with Posterior Urethral Valves-Pathogenesis, Prognosis and Management. 62
36009441 2022
9
Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group. 62
35136187 2022
10
Vesicoamniotic Shunting before 17 + 0 Weeks in Fetuses with Lower Urinary Tract Obstruction (LUTO): Comparison of Somatex vs. Harrison Shunt Systems. 62
35566484 2022
11
Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment. 62
34182598 2022
12
Vesico-amniotic shunt insertion prior to the completion of 16 weeks results in improved preservation of renal function in surviving fetuses with isolated severe lower urinary tract obstruction (LUTO). 62
35123910 2022
13
Early 2nd trimester vesico-amniotic shunt insertion promises a new era of better outcomes for fetuses with isolated severe lower urinary tract obstruction (LUTO). 62
35307334 2022
14
Vesico-amniotic shunt insertion prior to the completion of 16 weeks results in improved preservation of renal function in surviving fetuses with isolated severe lower urinary tract obstruction (LUTO). 62
35337732 2022
15
Development and in-vitro characterization of a novel fetal vesicoamniotic shunt - The Vortex shunt. 62
35048376 2022
16
Urine Biochemistry of a Human Fetus with Urinary Tract Obstruction - A Case Report. 62
35225147 2022
17
Evaluating the impact of pop-off mechanisms in boys with posterior urethral valves. 62
36330367 2022
18
Genome-wide association study in patients with posterior urethral valves. 62
36238604 2022
19
[DISTENDED FETAL BLADDER]. 62
34957714 2021
20
Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia. 62
33864313 2021
21
Prenatally diagnosed lower urinary tract obstruction: A 15-year experience at two tertiary centers in Japan. 62
34155735 2021
22
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). 62
34573432 2021
23
Predictive accuracy of prenatal ultrasound findings for lower urinary tract obstruction: A systematic review and Bayesian meta-analysis. 62
34318486 2021
24
Novel scoring system for determining fetal candidacy for prenatal intervention for severe congenital lower urinary tract obstruction. 62
34010724 2021
25
Fetoscopic urethral meatotomy in fetuses with lower urinary tract obstruction by congenital megalourethra. 62
33792084 2021
26
Fetal interventions for congenital renal anomalies. 62
34189109 2021
27
Selection of candidates for foetal intervention in congenital lower urinary tract obstruction. 62
33620890 2021
28
Therapeutic intervention for fetal lower urinary tract obstruction: Current evidence and future strategies. 62
33583743 2021
29
Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation. 62
33219696 2021
30
Evaluation of the Fetal Therapy Evidence in Lower Urinary Tract Obstruction: Would an ERAS Guideline Improve Outcomes? 62
34350862 2021
31
Evaluation of Sequential Urine Analysis when Selecting Candidates for Vesicoamniotic Shunting in Lower Urinary Tract Obstruction. 62
33756463 2021
32
Urethroplasty with balloon catheterization in fetal lower urinary tract obstruction: observational study of 10 fetuses. 62
31763721 2020
33
Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties. 62
32978001 2020
34
Serial Amnioinfusion as Regenerative Therapy for Pulmonary Hypoplasia in Fetuses With Intrauterine Renal Failure or Severe Renal Anomalies: Systematic Review and Future Perspectives. 62
32793867 2020
35
Decreased biventricular myocardial deformation in fetuses with lower urinary tract obstruction. 62
32787795 2020
36
Antenatal intervention for congenital fetal lower urinary tract obstruction (LUTO): a systematic review and meta-analysis. 62
30501534 2020
37
Biometric and morphological features on magnetic resonance imaging of fetal bladder in lower urinary tract obstruction: new perspectives for fetal cystoscopy. 62
31006924 2020
38
Fetal anesthesia: intrauterine therapies and immediate postnatal anesthesia for noncardiac surgical interventions. 62
32324666 2020
39
Fetal lower urinary tract obstruction: What should we tell the prospective parents? 62
32065667 2020
40
Neurodevelopmental Outcome in Infants with Lower Urinary Tract Obstruction Based on Different Degrees of Severity. 62
32146466 2020
41
Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations. 62
31401627 2020
42
Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)-Development and internal validation. 62
31659787 2019
43
Fetal cardiac findings and hemodynamic changes associated with severe lower urinary tract obstruction in utero. 62
30908816 2019
44
Outcome of fetuses with lower urinary tract obstruction and normal amniotic fluid volume in second trimester of pregnancy. 62
30977189 2019
45
Congenital urinary tract obstruction. 62
30819578 2019
46
First-year profile of biomarkers for early detection of renal injury in infants with congenital urinary tract obstruction. 62
30694385 2019
47
Fetal megacystis: a lot more than LUTO. 62
30043466 2019
48
Myocardial function in fetuses with lower urinary tract obstruction: Is there a cardiac remodeling effect due to renal damage? 62
30957256 2019
49
The role of renal biomarkers to predict the need of surgery in congenital urinary tract obstruction in infants. 62
30979613 2019
50
Antenatal staging of congenital lower urinary tract obstruction. 62
29978555 2019

Variations for Lower Urinary Tract Obstruction, Congenital

ClinVar genetic disease variations for Lower Urinary Tract Obstruction, Congenital:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BNC2 NM_017637.6(BNC2):c.2636+499C>T SNV Pathogenic
624566 rs1350162888 GRCh37: 9:16435054-16435054
GRCh38: 9:16435056-16435056
2 BNC2 NM_017637.6(BNC2):c.2663A>G (p.His888Arg) SNV Pathogenic
599348 rs1563774686 GRCh37: 9:16419624-16419624
GRCh38: 9:16419626-16419626
3 PRDM6, LINC02201, PPIC, SNX24, SNX2, SNCAIP, LOC101927357, MGC32805 dup(5)(q23.2q23.2) DUP Uncertain Significance
1240005 GRCh37:
GRCh38:

UniProtKB/Swiss-Prot genetic disease variations for Lower Urinary Tract Obstruction, Congenital:

73
# Symbol AA change Variation ID SNP ID
1 BNC2 p.His888Arg VAR_083495 rs1563774686

Expression for Lower Urinary Tract Obstruction, Congenital

Search GEO for disease gene expression data for Lower Urinary Tract Obstruction, Congenital.

Pathways for Lower Urinary Tract Obstruction, Congenital

GO Terms for Lower Urinary Tract Obstruction, Congenital

Sources for Lower Urinary Tract Obstruction, Congenital

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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