LUTO
MCID: LWR018
MIFTS: 25

Lower Urinary Tract Obstruction, Congenital (LUTO)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Lower Urinary Tract Obstruction, Congenital

MalaCards integrated aliases for Lower Urinary Tract Obstruction, Congenital:

Name: Lower Urinary Tract Obstruction, Congenital 56 6
Luto 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial variability
variable age at onset of symptoms
diagnosed in utero in some patients


Classifications:



External Ids:

OMIM 56 618612

Summaries for Lower Urinary Tract Obstruction, Congenital

OMIM : 56 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)

MalaCards based summary : Lower Urinary Tract Obstruction, Congenital, also known as luto, is related to fetal lower urinary tract obstruction and oligohydramnios. An important gene associated with Lower Urinary Tract Obstruction, Congenital is BNC2 (Basonuclin 2). The drugs Fentanyl and Pancuronium have been mentioned in the context of this disorder. Affiliated tissues include kidney and testes.

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 18)
# Related Disease Score Top Affiliating Genes
1 fetal lower urinary tract obstruction 11.6
2 oligohydramnios 10.2
3 atresia of urethra 10.2
4 sotos syndrome 1 10.1
5 beckwith-wiedemann syndrome 10.1
6 down syndrome 10.1
7 megacystis-microcolon-intestinal hypoperistalsis syndrome 10.1
8 microcolon 10.1
9 hydronephrosis 10.1
10 patau syndrome 10.1
11 bladder neck obstruction 10.1
12 gonadal dysgenesis 10.1
13 turner syndrome 10.1
14 chromosomal triplication 10.1
15 fetal macrosomia 10.1
16 overgrowth syndrome 10.1
17 urinary tract obstruction 10.0
18 posterior urethral valves 10.0

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

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Lower Urinary Tract Obstruction, Congenital

Drugs for Lower Urinary Tract Obstruction, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
2
Pancuronium Approved Phase 2 15500-66-0, 16974-53-1 27350 441289
3
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
4 Pharmaceutical Solutions Phase 1
5 Calcium, Dietary Phase 1
6 Hormones Phase 1
7 Anesthetics, Local
8 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial of Fetal Cystoscopy Versus Vesico-amniotic Shunting in Severe Lower Urinary Tract Obstructions Unknown status NCT01552824 Phase 2
2 Serial Amnioinfusions as Regenerative Therapy for Pulmonary Hypoplasia in Fetuses With Intrauterine Renal Failure or Severe Renal Anomalies- a Feasibility Study Recruiting NCT03723564 Phase 1 Lactated Ringers Solution for Injection
3 Validation of the Standardized Prenatal Clinical Management of Fetuses With Lower Urinary Tract Obstruction (LUTO) Recruiting NCT02315521
4 Fetal Cystoscopy for Severe Lower Urinary Tract Obstruction (LUTO): A Prospective Trial Recruiting NCT03281798
5 Automated Myocardial Performance Index Before, During and After Fetal Surgeries Using Samsung HERA W10 Recruiting NCT04140669
6 Renal Anhydramnios Fetal Therapy (RAFT) Trial Recruiting NCT03101891 Isotonic fluid
7 Fetal Cystoscopy for Severe Lower Urinary Tract Obstruction - a Prospective Trial Terminated NCT02446184

Search NIH Clinical Center for Lower Urinary Tract Obstruction, Congenital

Genetic Tests for Lower Urinary Tract Obstruction, Congenital

Anatomical Context for Lower Urinary Tract Obstruction, Congenital

MalaCards organs/tissues related to Lower Urinary Tract Obstruction, Congenital:

40
Kidney, Testes

Publications for Lower Urinary Tract Obstruction, Congenital

Articles related to Lower Urinary Tract Obstruction, Congenital:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. 61 56 6
31051115 2019
2
Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)-Development and internal validation. 61
31659787 2019
3
Fetal cardiac findings and hemodynamic changes associated with severe lower urinary tract obstruction in utero. 61
30908816 2019
4
Balloon catheterization in fetal lower urinary tract obstruction: an observational study of 10 fetuses. 61
31763721 2019
5
Outcome of fetuses with lower urinary tract obstruction and normal amniotic fluid volume in second trimester of pregnancy. 61
30977189 2019
6
Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations. 61
31401627 2019
7
Congenital urinary tract obstruction. 61
30819578 2019
8
Myocardial function in fetuses with lower urinary tract obstruction: Is there a cardiac remodeling effect due to renal damage? 61
30957256 2019
9
Fetal megacystis: a lot more than LUTO. 61
30043466 2019
10
First-year profile of biomarkers for early detection of renal injury in infants with congenital urinary tract obstruction. 61
30694385 2019
11
The role of renal biomarkers to predict the need of surgery in congenital urinary tract obstruction in infants. 61
30979613 2019
12
Antenatal staging of congenital lower urinary tract obstruction. 61
29978555 2019
13
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. 61
29664229 2019
14
Biometric and morphological features of the fetal bladder in lower urinary tract obstruction on magnetic resonance imaging: new perspectives for fetal cystoscopy. 61
31006924 2019
15
Surgical interventions and anesthesia in the 1st year of life for lower urinary tract obstruction. 61
30049573 2019
16
Effectiveness of Prenatal Intervention on the Outcome of Diseases That Have a Postnatal Urological Impact. 61
31001504 2019
17
Neonatal survival and kidney function after prenatal interventions for obstructive uropathies. 61
31392712 2019
18
Prenatal diagnosis of LUTO: improving diagnostic accuracy. 61
29266464 2018
19
Antenatal intervention for congenital fetal lower urinary tract obstruction (LUTO): a systematic review and meta-analysis. 61
30501534 2018
20
Long-term renal outcome in infants with congenital lower urinary tract obstruction. 61
29980359 2018
21
Perinatal Outcomes of Fetal Lower Urinary Tract Obstruction After Vesicoamniotic Shunting Using a Double-Basket Catheter. 61
29498072 2018
22
Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction. 61
30093259 2018
23
Fetal surgery for lower urinary tract obstruction: the importance of staging prior to intervention. 61
29160637 2018
24
Comparison of biochemical analysis of fetal serum and fetal urine in the prediction of postnatal renal outcome in lower urinary tract obstruction. 61
29644715 2018
25
Natural History of Fetal Lower Urinary Tract Obstruction with Normal Amniotic Fluid Volume at Initial Diagnosis. 61
28700992 2018
26
Lower urinary tract obstruction: fetal intervention based on prenatal staging. 61
28730376 2017
27
Report on The Society for Fetal Urology panel discussion on the selection criteria and intervention for fetal bladder outlet obstruction. 61
28476482 2017
28
Effectiveness of vesicoamniotic shunt in fetuses with congenital lower urinary tract obstruction: an updated systematic review and meta-analysis. 61
27270578 2017
29
Finding pathways to national-scale land-sector sustainability. 61
28406202 2017
30
Incidence and Risk Factors of De novo Stress Urinary Incontinence after Pelvic Floor Reconstruction: A Nested Case-control Study. 61
28303850 2017
31
Evidence Suggesting the End of Universal Domestic Asbestos Exposure in Metsovo, NW Greece. 61
29020669 2017
32
Serial amnioinfusions for fetal pulmonary palliation in fetuses with renal failure. 61
26978650 2017
33
Early vesico-amniotic shunting - does it change the prognosis in fetal lower urinary tract obstruction diagnosed in the first trimester? 61
29057434 2017
34
Ultrasound guided balloon catheterisation: a new method of fetal lower urinary tract obstruction management. 61
28580571 2017
35
Are ultrasound renal aspects associated with urinary biochemistry in fetuses with lower urinary tract obstruction? 61
27862070 2016
36
Fetal lower urinary tract obstruction: proposal for standardized multidisciplinary prenatal management based on disease severity. 61
26690832 2016
37
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. 61
27061706 2016
38
Factors associated with fetal shunt dislodgement in lower urinary tract obstruction. 61
27247093 2016
39
Factors associated with the grief after stillbirth: a comparative study between Brazilian and Canadian women. 61
27680038 2016
40
Taking care of the newborn dying and their families: Nurses' experiences of neonatal intensive care. 61
27384286 2016
41
Defining and predicting 'intrauterine fetal renal failure' in congenital lower urinary tract obstruction. 61
26525197 2016
42
Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. 61
26739350 2016
43
Current applications of in utero intervention for lower urinary tract obstruction. 61
26441047 2015
44
Outcome in fetal lower urinary tract obstruction: a prospective registry study. 61
25689128 2015
45
Fetal urine biochemistry at 13-23 weeks of gestation in lower urinary tract obstruction: criteria for in-utero treatment. 61
25412852 2015
46
Fetal intervention for severe lower urinary tract obstruction: a multicenter case-control study comparing fetal cystoscopy with vesicoamniotic shunting. 61
25157756 2015
47
Successful Fetoscopic Surgery to Release a Complete Obstruction of the Urethral Meatus in a Case of Congenital Megalourethra. 61
25613991 2015
48
Fetal Lower Urinary Tract Obstruction (LUTO): a practical review for providers. 61
27057343 2015
49
Fetal therapy for the treatment of congenital bladder neck obstruction. 61
24934451 2014
50
The experience of pregnant women with a diagnosis of fetal lower urinary tract obstruction (LUTO). 61
24290423 2014

Variations for Lower Urinary Tract Obstruction, Congenital

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BNC2 NM_017637.6(BNC2):c.2663A>G (p.His888Arg)SNV Pathogenic 599348 rs1563774686 9:16419624-16419624 9:16419626-16419626
2 BNC2 NM_017637.6(BNC2):c.2636+499C>TSNV Pathogenic 624566 rs1350162888 9:16435054-16435054 9:16435056-16435056

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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