Lower Urinary Tract Obstruction, Congenital disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618612

MeSH ⁴³ D014570

MedGen ⁴⁰ C5231427 CN262378

SNOMED-CT via HPO ⁶⁹ 162116003 165232002 197811007 more

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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)

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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
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:

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Symptoms & Phenotypes for Lower Urinary Tract Obstruction, Congenital

Human phenotypes related to Lower Urinary Tract Obstruction, Congenital:

³⁰

#	Description	HPO 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)

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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

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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

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Anatomical Context for Lower Urinary Tract Obstruction, Congenital

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

MalaCards : Kidney

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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	Kolvenbach CM...Hilger AC	31051115	2019
2	Obstetric outcomes after fetal intervention - a single-center descriptive review. ⁶²	Narang K...Ruano R	36411675	2022
3	Fetal therapy of LUTO (lower urinary tract obstruction) - a follow-up observational study. ⁶²	Keil C...Weber S	34652254	2022
4	Fetal Megacystis in the first trimester: Comparing management and outcomes between longitudinal bladder length groups. ⁶²	Ormonde M...Martins AT	36372362	2022
5	Prenatally Diagnosed Posterior Urethral Valves: Ethical Dilemmas of Fetal Intervention. ⁶²	Meier KM...Vemulakonda V	35680050	2022
6	Reply to 'Management of very young fetuses with LUTO'. ⁶²	Capone V...Montini G	35882995	2022
7	Management of very young fetuses with LUTO. ⁶²	Kohl T	35882994	2022
8	Chronic Kidney Disease in Boys with Posterior Urethral Valves-Pathogenesis, Prognosis and Management. ⁶²	Klaus R...Lange-Sperandio B	36009441	2022
9	Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group. ⁶²	Capone V...Montini G	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	Strizek B...Geipel A	35566484	2022
11	Pathological and sonographic review of early isolated severe lower urinary tract obstruction and implications for prenatal treatment. ⁶²	Vinit N...Collaborators	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	Kohl T...Bruckmann M	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	Kohl T	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	Farrugia MK	35337732	2022
15	Development and in-vitro characterization of a novel fetal vesicoamniotic shunt - The Vortex shunt. ⁶²	Sheth KR...Blumenfeld YJ	35048376	2022
16	Urine Biochemistry of a Human Fetus with Urinary Tract Obstruction - A Case Report. ⁶²	Mongia A...Fanelli A	35225147	2022
17	Evaluating the impact of pop-off mechanisms in boys with posterior urethral valves. ⁶²	Delefortrie T...Harper L	36330367	2022
18	Genome-wide association study in patients with posterior urethral valves. ⁶²	van der Zanden LFM...Hilger AC	36238604	2022
19	[DISTENDED FETAL BLADDER]. ⁶²	Shapira D...Cleper R	34957714	2021
20	Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia. ⁶²	Fontanella F...Bilardo CM	33864313	2021
21	Prenatally diagnosed lower urinary tract obstruction: A 15-year experience at two tertiary centers in Japan. ⁶²	Sugibayashi R...Sago H	34155735	2021
22	Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). ⁶²	Schierbaum LM...Hilger AC	34573432	2021
23	Predictive accuracy of prenatal ultrasound findings for lower urinary tract obstruction: A systematic review and Bayesian meta-analysis. ⁶²	Keefe DT...Rickard M	34318486	2021
24	Novel scoring system for determining fetal candidacy for prenatal intervention for severe congenital lower urinary tract obstruction. ⁶²	Nassr AA...Shamshirsaz AA	34010724	2021
25	Fetoscopic urethral meatotomy in fetuses with lower urinary tract obstruction by congenital megalourethra. ⁶²	Cruz-Martinez R...Juarez-Martinez I	33792084	2021
26	Fetal interventions for congenital renal anomalies. ⁶²	Irfan A...Jelin E	34189109	2021
27	Selection of candidates for foetal intervention in congenital lower urinary tract obstruction. ⁶²	Nassr AA...Belfort MA	33620890	2021
28	Therapeutic intervention for fetal lower urinary tract obstruction: Current evidence and future strategies. ⁶²	Farrugia MK...Kilby MD	33583743	2021
29	Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation. ⁶²	Kao C...Somerset D	33219696	2021
30	Evaluation of the Fetal Therapy Evidence in Lower Urinary Tract Obstruction: Would an ERAS Guideline Improve Outcomes? ⁶²	Wilson RD...Nelson G	34350862	2021
31	Evaluation of Sequential Urine Analysis when Selecting Candidates for Vesicoamniotic Shunting in Lower Urinary Tract Obstruction. ⁶²	Koch A...Sananes N	33756463	2021
32	Urethroplasty with balloon catheterization in fetal lower urinary tract obstruction: observational study of 10 fetuses. ⁶²	Debska M...Debski R	31763721	2020
33	Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties. ⁶²	Farrugia MK	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	Warring SK...Ruano R	32793867	2020
35	Decreased biventricular myocardial deformation in fetuses with lower urinary tract obstruction. ⁶²	Xu R...Zeng S	32787795	2020
36	Antenatal intervention for congenital fetal lower urinary tract obstruction (LUTO): a systematic review and meta-analysis. ⁶²	Saccone G...Zullo F	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	Vinit N...Ville Y	31006924	2020
38	Fetal anesthesia: intrauterine therapies and immediate postnatal anesthesia for noncardiac surgical interventions. ⁶²	Nelson O...Lin EE	32324666	2020
39	Fetal lower urinary tract obstruction: What should we tell the prospective parents? ⁶²	Ibirogba ER...Ruano R	32065667	2020
40	Neurodevelopmental Outcome in Infants with Lower Urinary Tract Obstruction Based on Different Degrees of Severity. ⁶²	Monteiro S...Sanz Cortes M	32146466	2020
41	Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations. ⁶²	Vinit N...Ville Y	31401627	2020
42	Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)-Development and internal validation. ⁶²	Duin LK...Bilardo CM	31659787	2019
43	Fetal cardiac findings and hemodynamic changes associated with severe lower urinary tract obstruction in utero. ⁶²	Cohen J...Freud L	30908816	2019
44	Outcome of fetuses with lower urinary tract obstruction and normal amniotic fluid volume in second trimester of pregnancy. ⁶²	Nassr AA...Belfort MA	30977189	2019
45	Congenital urinary tract obstruction. ⁶²	Cheung KW...Kilby MD	30819578	2019
46	First-year profile of biomarkers for early detection of renal injury in infants with congenital urinary tract obstruction. ⁶²	Kostic D...Koch VHK	30694385	2019
47	Fetal megacystis: a lot more than LUTO. ⁶²	Fontanella F...Bilardo CM	30043466	2019
48	Myocardial function in fetuses with lower urinary tract obstruction: Is there a cardiac remodeling effect due to renal damage? ⁶²	Graupner O...Axt-Fliedner R	30957256	2019
49	The role of renal biomarkers to predict the need of surgery in congenital urinary tract obstruction in infants. ⁶²	Kostic D...Koch VHK	30979613	2019
50	Antenatal staging of congenital lower urinary tract obstruction. ⁶²	Fontanella F...Bilardo CM	29978555	2019

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Genes for Lower Urinary Tract Obstruction, Congenital

Genes related to Lower Urinary Tract Obstruction, Congenital (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BNC2	Basonuclin 2	Protein Coding	1308.13	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	31051115

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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

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Expression for Lower Urinary Tract Obstruction, Congenital

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

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Pathways for Lower Urinary Tract Obstruction, Congenital

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GO Terms for Lower Urinary Tract Obstruction, Congenital

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Sources for Lower Urinary Tract Obstruction, Congenital

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

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¹¹ Disease Ontology

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²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LUTO MCID: LWR018 MIFTS: 28	Lower Urinary Tract Obstruction, Congenital (LUTO) Categories: Genetic diseases, Nephrological diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Lower Urinary Tract Obstruction, Congenital (LUTO)

Aliases & Classifications for Lower Urinary Tract Obstruction, Congenital

MalaCards integrated aliases for Lower Urinary Tract Obstruction, Congenital:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Lower Urinary Tract Obstruction, Congenital

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Lower Urinary Tract Obstruction, Congenital

Interventional clinical trials:

Genetic Tests for Lower Urinary Tract Obstruction, Congenital

Genetic tests related to Lower Urinary Tract Obstruction, Congenital:

Anatomical Context for Lower Urinary Tract Obstruction, Congenital

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

Publications for Lower Urinary Tract Obstruction, Congenital

Articles related to Lower Urinary Tract Obstruction, Congenital:

Genes for Lower Urinary Tract Obstruction, Congenital

Genes related to Lower Urinary Tract Obstruction, Congenital (1 elite genes):

Variations for Lower Urinary Tract Obstruction, Congenital

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

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

Expression 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