LUTO
MCID: LWR018
MIFTS: 39

Lower Urinary Tract Obstruction, Congenital (LUTO)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

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 6
Luto 57 73
Posterior Urethral Valve 58
Urologic Diseases 44
Puv 58

Characteristics:

Orphanet epidemiological data:

58
posterior urethral valve
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Australia); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
lower urinary tract obstruction, congenital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Lower Urinary Tract Obstruction, Congenital

UniProtKB/Swiss-Prot : 73 Lower urinary tract obstruction, congenital: 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 cakut and urofacial syndrome 1. An important gene associated with Lower Urinary Tract Obstruction, Congenital is BNC2 (Basonuclin 2). The drugs Levoleucovorin and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include kidney, prostate and liver, and related phenotypes are recurrent urinary tract infections and congenital posterior urethral valve

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 05-Mar-2021)

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 top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 cakut 11.2
2 urofacial syndrome 1 11.1
3 urinary system disease 11.1
4 fetal lower urinary tract obstruction 11.1
5 congenital anomalies of kidney and urinary tract 1 11.0
6 vesicoureteral reflux 1 10.6
7 urinary tract infection 10.5
8 end stage renal disease 10.4
9 urinary tract obstruction 10.3
10 acute cystitis 10.3
11 prostatic hyperplasia, benign 10.3
12 prostatic hypertrophy 10.3
13 prostatic adenoma 10.3
14 urethral stricture 10.3
15 infertility 10.2
16 chronic kidney disease 10.2
17 cystitis 10.2
18 ureterocele 10.1
19 proteinuria, chronic benign 10.1
20 hypospadias 10.1
21 renal tubular acidosis 10.1
22 orchitis 10.1
23 ureteral obstruction 10.1
24 polyhydramnios 10.1
25 epididymo-orchitis 10.1
26 distal renal tubular acidosis 10.1
27 vaccinia 10.1
28 posterior urethral valves 10.1
29 impotence 10.1
30 kidney cancer 10.1
31 sexual disorder 10.0
32 low compliance bladder 10.0
33 prostatitis 10.0
34 acute kidney failure 10.0
35 nephrolithiasis 10.0
36 oligohydramnios 10.0
37 atresia of urethra 10.0
38 prune belly syndrome 10.0
39 bladder diverticulum 10.0
40 cleft palate, isolated 10.0
41 williams-beuren syndrome 10.0
42 anus, imperforate 10.0
43 arachnoid cysts, intracranial 10.0
44 nuchal bleb, familial 10.0
45 renal dysplasia, cystic 10.0
46 alacrima, achalasia, and mental retardation syndrome 10.0
47 obstructive nephropathy 10.0
48 urolithiasis 10.0
49 pyelonephritis 10.0
50 hemopericardium 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

Human phenotypes related to Lower Urinary Tract Obstruction, Congenital:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0000010
2 congenital posterior urethral valve 58 31 very rare (1%) Very frequent (99-80%) HP:0010957
3 vesicoureteral reflux 58 31 very rare (1%) Frequent (79-30%) HP:0000076
4 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
5 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
6 postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008897
7 urinary incontinence 58 31 very rare (1%) Occasional (29-5%) HP:0000020
8 pyelonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012330
9 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
10 fetal pyelectasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010945
11 enuresis nocturna 58 31 occasional (7.5%) Occasional (29-5%) HP:0010677
12 unilateral renal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008718
13 hypertelorism 58 31 very rare (1%) Very rare (<4-1%) HP:0000316
14 abnormal nasal morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0005105
15 retrognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000278
16 urethral stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0008661
17 lethargy 58 31 very rare (1%) Very rare (<4-1%) HP:0001254
18 oligohydramnios 58 31 very rare (1%) Very rare (<4-1%) HP:0001562
19 dysuria 58 31 very rare (1%) Very rare (<4-1%) HP:0100518
20 urinary retention 58 31 very rare (1%) Very rare (<4-1%) HP:0000016
21 pollakisuria 31 very rare (1%) HP:0100515
22 renal insufficiency 58 Occasional (29-5%)
23 chronic kidney disease 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

Drugs & Therapeutics for Lower Urinary Tract Obstruction, Congenital

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

(show top 50) (show all 166)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
2
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
3
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5
Uric acid Investigational Phase 4 69-93-2 1175
6 Protective Agents Phase 4
7 Nutrients Phase 4
8 Vitamin B Complex Phase 4
9 Micronutrients Phase 4
10 Hematinics Phase 4
11 Antioxidants Phase 4
12 Trace Elements Phase 4
13 Vitamin B9 Phase 4
14 Vitamins Phase 4
15 Folate Phase 4
16 Neuromuscular Blocking Agents Phase 4
17 Neuromuscular Nondepolarizing Agents Phase 4
18 Anticonvulsants Phase 4
19 Bromides Phase 4
20 Anesthetics, Local Phase 4
21
Tamsulosin Approved, Investigational Phase 3 106133-20-4 129211
22
Mirabegron Approved Phase 3 223673-61-8 9865528
23
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
24
tannic acid Approved Phase 3 1401-55-4
25
Ofloxacin Approved Phase 3 82419-36-1 4583
26
Lomefloxacin Approved, Investigational Phase 3 98079-51-7 3948
27
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
28
Ciprofloxacin Approved, Investigational Phase 3 85721-33-1 2764
29
Propiverine Approved, Investigational Phase 3 60569-19-9 4942
30
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
31 Anti-Infective Agents Phase 3
32 Anti-Bacterial Agents Phase 3
33 Parasympatholytics Phase 3
34 Cholinergic Antagonists Phase 3
35 Muscarinic Antagonists Phase 3
36 Neurotransmitter Agents Phase 3
37 Cholinergic Agents Phase 3
38 Hormones Phase 3
39 Adrenergic Agents Phase 3
40 Adrenergic beta-Agonists Phase 3
41 Adrenergic beta-3 Receptor Agonists Phase 3
42 Solifenacin succinate Phase 3 242478-38-2
43 Adrenergic Agonists Phase 3
44 Analgesics Phase 3
45 Analgesics, Opioid Phase 3
46 Calcium, Dietary Phase 3
47 Cytochrome P-450 Enzyme Inhibitors Phase 3
48 Psychotropic Drugs Phase 3
49 calcium channel blockers Phase 3
50 Anti-Anxiety Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 109)
# Name Status NCT ID Phase Drugs
1 Periprocedural Administration of Folic Acid for Prevention of Contrast Induced Nephropathy in Patients Undergoing Coronary CTA/Angiography/Angioplasty Unknown status NCT02444013 Phase 4 Folic acid;Placebo
2 Does Depth of Neuromuscular Blockade (NMB) Affect Surgical Conditions and Postoperative Pain in Obese Patients Undergoing Robotic Surgery Recruiting NCT03591289 Phase 4 NMB with rocuronium bromide
3 Efficacy of the Liposomal Bupivacaine for Postoperative Pain Control in Urologic Procedures Recruiting NCT02805504 Phase 4 Exparel;Marcaine
4 A Double-Blind, Randomized, Parallel Group, Multi-Centre Study to Evaluate the Efficacy and Safety of Mirabegron Compared to Solifenacin in Subjects With Overactive Bladder (OAB) Treated With Antimuscarinics and Dissatisfied Due to Lack of Efficacy Completed NCT01638000 Phase 3 Mirabegron;Solifenacin succinate
5 A Randomized, Double-Blind, Parallel-Group, Placebo- and Active-Controlled, Multi-center Study to Evaluate the Efficacy, Safety and Tolerability of Combinations of Solifenacin Succinate and Mirabegron Compared to Solifenacin Succinate and Mirabegron Monotherapy in the Treatment of Overactive Bladder Completed NCT01972841 Phase 3 Solifenacin succinate;Mirabegron;Placebo to match solifenacin succinate;Placebo to match mirabegron
6 Tamsulosin Phase III Clinical Trial -Double-Blind, Placebo Controlled Study in Male Patients With Lower Urinary Tract Syndrome Completed NCT00239317 Phase 3 Tamusulosin
7 Tamsulosin Phase III Clinical Trial -Double-Blind, Placebo Controlled Study in Female Patients With Lower Urinary Tract Syndrome Completed NCT00239265 Phase 3 Tamuslosin
8 A Randomized, Double-Blind, Parallel-Group, Active-Controlled, Multi-center Study to Evaluate the Long-Term Safety and Efficacy of Combination of Solifenacin Succinate With Mirabegron Compared to Solifenacin Succinate and Mirabegron Monotherapy in Subjects With Overactive Bladder Completed NCT02045862 Phase 3 Solifenacin succinate;Mirabegron;Placebo to match solifenacin;Placebo to match mirabegron
9 A Multicenter, Randomized Study To Compare The Safety And Efficacy Of Oral Levofloxacin With That Of Lomefloxacin HCl In The Treatment Of Complicated Urinary Tract Infections In Adults Completed NCT00258102 Phase 3 Levofloxacin
10 A Multicenter, Double-Blind, Randomized Study To Compare The Safety And Efficacy Of Oral Levofloxacin With That Of Ciprofloxacin HCl In The Treatment Of Complicated Urinary Tract Infections In Adults Completed NCT00258089 Phase 3 Levofloxacin
11 Efficacy and Tolerability of Propiverine Hydrochloride Extended Release (ER) Compared to Immediate Release (IR) in Patients With Neurogenic Detrusor Overactivity. A Randomized, Double Blind, Parallel Group, Multicenter Clinical Trial Completed NCT01530620 Phase 3 Propiverine hydrochloride ER (extended release);Propiverine hydrochloride IR (immediate release)
12 A Randomized, Double-Blind, Multi-Centre Study to Evaluate the Efficacy and Safety of Adding Mirabegron to Solifenacin in Incontinent OAB Subjects Who Have Received Solifenacin for 4 Weeks and Warrant Additional Relief for Their OAB Symptoms Completed NCT01908829 Phase 3 mirabegron 25 mg;mirabegron 50 mg;solifenacin 5 mg;solifenacin 10 mg;mirabegron 25 mg matching placebo;mirabegron 50 mg matching placebo;solifenacin 5 mg matching placebo;solifenacin 10 mg matching placebo
13 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Pain After Ureteroscopy With Stent Placement: a Pilot Completed NCT03927781 Phase 3 Pregabalin 300mg
14 An Open-Label Roll-Over Study to Evaluate the Long-Term Safety and Efficacy of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Enrolling by invitation NCT04042402 Phase 3 DCR-PHXC
15 A Randomized Controlled Study Comparing Adjuvant Hyperthermia Treatment in Conjunction With Mitomycin C Versus BCG Immunotherapy (BCG) Adjuvant Treatment in Patients With Superficial Transitional Cell Carcinoma of the Bladder (STCCB) Terminated NCT00384891 Phase 3 Bacillus Calmette-Guérin
16 A Multi-Centre, Randomised, Open-Label Active-Controlled Study Comparing Safety and Efficacy of Synergo Radiofrequency (RF)-Induced Hyperthermia-Chemotherapy With Mitomycin C (RITE) Versus Bacillus Calmette-Guérin (BCG) as First-Line Treatment of Non-Muscle Invasive Papillary Bladder Cancer (NMIBC) Withdrawn NCT02254915 Phase 3 Bacillus Calmette-Guérin
17 Randomized Controlled Trial of Fetal Cystoscopy Versus Vesico-amniotic Shunting in Severe Lower Urinary Tract Obstructions Unknown status NCT01552824 Phase 2
18 A Randomized, Double-Blind, Factorial, Parallel-Group, Active and Placebo-Controlled, Multicenter Dose-Ranging Study to Evaluate the Efficacy, Safety and Tolerability of Six Dose Combinations of Solifenacin Succinate and Mirabegron Compared to Mirabegron and Solifenacin Succinate Monotherapies in the Treatment of Overactive Bladder. Completed NCT01340027 Phase 2 Mirabegron;Solifenacin succinate;Placebo
19 A Phase 2, Randomized, Double-blind, Placebo-controlled, Parallel Group, Adaptive, Combined Proof of Concept and Dose-Finding Study to Investigate Efficacy, Safety, Pharmacodynamics and Pharmacokinetics of ASP3652 in the Treatment of Female Patients With Bladder Pain Syndrome / Interstitial Cystitis Completed NCT01613586 Phase 2 ASP3652;Placebo
20 Evaluation of the Safety of Pre-TURBT Intravesical Instillation of Escalating Doses of TC-3 Gel Mixed With Mitomycin C (MMC) in Non-muscle Invasive Bladder Cancer (NMIBC) Patients Completed NCT02307487 Phase 2 120 mg MMC in 90ml gel;140 mg MMC in 90ml gel;160 mg MMC in 90ml gel;120 mg MMC in 60ml gel;140 mg MMC in 60ml gel;160 mg MMC in 60ml gel
21 Muscle Cell Mediated Therapy for Stress Urinary Incontinence in Males Following Prostate Surgery: An Investigation of Cook MyoSite Autologous Muscle Derived Cells Completed NCT02291432 Phase 1, Phase 2
22 Efficacy of the Oncoxin-Viusid® Nutritional Supplement on the Quality of Life of Patients With Advanced or Metastatic Ovarian Epithelial Cancer. Clinical Trial Phase II. Recruiting NCT03562897 Phase 2
23 A Phase 2a Multiple Ascending, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of GFB-887, a TRPC5 Channel Inhibitor, in Patients With Diabetic Nephropathy, Focal Segmental Glomerulosclerosis, and Treatment-Resistant Minimal Change Disease Recruiting NCT04387448 Phase 2 GFB-887;Placebo
24 A Phase 1/2a Pilot Study of Intravesical TSD-001 for Treatment of Low-Grade, Stage Ta, Non Muscle Invasive Bladder Cancer Active, not recruiting NCT03081858 Phase 1, Phase 2 TSD-001
25 A Phase 2 Placebo-Controlled, Double-Blind, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of DCR-PHXC Solution for Injection (Subcutaneous Use) in Patients With Primary Hyperoxaluria Active, not recruiting NCT03847909 Phase 2 DCR-PHXC;Sterile Normal Saline (0.9% NaCl)
26 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
27 Intravesical Antifibrinolytic for Patients With Hematuria and Clot Retention Not yet recruiting NCT04555343 Phase 1, Phase 2 Tranexamic acid
28 Albumin Normalization to Prevent Hypotension and Enhance Recovery From Severe Acute Kidney Injury Treated With Renal Replacement Therapy: A Proof-of-Concept Study Not yet recruiting NCT04705896 Phase 2
29 A Randomized, Double-Blind, Placebo-Controlled Study to Explore the Efficacy, Safety, and Tolerability of JNJ-42160443 in Subjects With Interstitial Cystitis/ Painful Bladder Syndrome Terminated NCT01060254 Phase 2 Placebo;JNJ-42160443
30 A Dose Escalation, Expansion Study of Vofatamab (B-701) Alone, Plus Docetaxel, or Versus Docetaxel in Subjects With Locally Advanced or Metastatic Urothelial Cell Carcinoma Who Have Relapsed After, or Are Refractory to Standard Therapy Terminated NCT02401542 Phase 1, Phase 2 Vofatamab;Docetaxel;Placebo
31 A Multi-Center, Open-Label Phase 1b/2 Study of a Novel FGFR3 Inhibitor (B-701) Combined With Pembrolizumab in Subjects With Locally Advanced or Metastatic Urothelial Carcinoma Who Have Progressed Following Platinum-based Chemotherapy Terminated NCT03123055 Phase 1, Phase 2 B-701;Pembrolizumab
32 A First-In-Human, Phase 1, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of GFB-887, a TRPC5 Channel Inhibitor, in Healthy Subjects Completed NCT03970122 Phase 1 GFB-887;Placebo
33 A Single-Dose, Randomised, Open-Label, Two-Period Crossover Study to Determine the Bioequivalence of the Second Generation Dutasteride and Tamsulosin HCl Combination Capsule in the Fed State in Healthy Adult Male Subjects Completed NCT02058576 Phase 1 Commercially available combination of dutasteride 0.5 mg and tamsulosin HCL 0.4 mg;Second generation dutasteride 0.5 mg and tamsulosin HCL 0.4 mg combination capsule
34 A Single-Dose, Randomised, Open-Label, Two-Period Crossover Study to Determine the Bioequivalence of the Second Generation Dutasteride and Tamsulosin HCl Combination Capsule in the Fasted State in Healthy Adult Male Subjects Completed NCT02052713 Phase 1 Commercially available combination of dutasteride 0.5 mg and tamsulosin HCL 0.4 mg;Second generation dutasteride 0.5 mg and tamsulosin HCL 0.4 mg combination capsule
35 Pilot Study of Mycophenolate Mofetil in Congenital Uropathies Completed NCT00193635 Phase 1 mycophenolate mofetil
36 Clinical Study to Investigate the Safety and Pharmacokinetics of Udenafil Tablet in Renal Impaired Male Patients Completed NCT01232010 Phase 1 Mirodenafil
37 Clinical Study to Investigate the Safety and Pharmacokinetics of Udenafil Tablet in Renal Impaired Male Patients Completed NCT01231997 Phase 1 Udenafil
38 Phase 1 Pilot Study of Bioengineered Penile Tissue Constructs in Subjects With Irreversibly Damaged Penile Corpora Not yet recruiting NCT03463239 Phase 1
39 A Phase 1 Pilot Safety and Feasibility Study of Autologous Engineered Urethral Not yet recruiting NCT03258658 Phase 1
40 Perioperative Testosterone Replacement Therapy Improves Outcomes: A Pilot Safety and Feasibility Study Not yet recruiting NCT04731376 Phase 1 Testosterone Cypionate
41 Safety and Clinical Outcomes Study: Amniotic and Umbilical Cord Tissue Administration for Orthopedic, Neurologic, Urologic, Autoimmune, Renal, Cardiac and Pulmonary Conditions Not yet recruiting NCT03899298 Phase 1
42 A Phase l/ll, Open Label, Dose-escalation Study of Varlilumab (CDX-1127) in Combination With Atezolizumab (MPDL3280A, Anti-PD-L1) in Patients With Advanced Cancer Terminated NCT02543645 Phase 1 Combination of Varlilumab and Atezolizumab
43 A Phase l/ll Study of Varlilumab in Combination With Sunitinib in Patients With Metastatic Clear Cell Renal Cell Carcinoma Terminated NCT02386111 Phase 1 Combination of varlilumab and sunitinib
44 Effect of Circumcision on the Risk of Febrile Urinary Tract Infections in Children With Posterior Urethral Valves. Unknown status NCT01537601
45 Pharmacology and Physiology of the Lower Urinary Tract Unknown status NCT00662064
46 The Alternating Bidirectional Versus The Standard Approach During Shock Wave Lithotripsy For Renal And Upper Lumbar Ureteric Stones. A Randomized Clinical Trial Unknown status NCT03243682
47 A Randomized Controlled Trial of Renal Hypothermia During Partial Nephrectomy Unknown status NCT01529658
48 Bladder Morphology Using 2 Different Catheter Designs Foley Catheter vs. Cystosure Urinary Access System Unknown status NCT03108079
49 Remote Ischemic Conditioning (RIC) to Decrease Post-Operative Complications After Major Abdominal Surgery - A Phase IIa Trial Unknown status NCT03234543
50 Trigonal-sparing Versus Trigonal-involved Intravesical Botulinumtoxin A Injection in Refractory Idiopathic Detrusor Overactivity. Completed NCT03533062 botulinum toxin A

Search NIH Clinical Center for Lower Urinary Tract Obstruction, Congenital

Cochrane evidence based reviews: urologic diseases

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, Prostate, Liver

Publications for Lower Urinary Tract Obstruction, Congenital

Articles related to Lower Urinary Tract Obstruction, Congenital:

(show top 50) (show all 85)
# Title Authors PMID Year
1
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. 61 6 57
31051115 2019
2
Therapeutic intervention for fetal lower urinary tract obstruction: Current evidence and future strategies. 61
33583743 2021
3
Urethroplasty with balloon catheterization in fetal lower urinary tract obstruction: observational study of 10 fetuses. 61
31763721 2020
4
Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties. 61
32978001 2020
5
Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation. 61
33219696 2020
6
Serial Amnioinfusion as Regenerative Therapy for Pulmonary Hypoplasia in Fetuses With Intrauterine Renal Failure or Severe Renal Anomalies: Systematic Review and Future Perspectives. 61
32793867 2020
7
Antenatal intervention for congenital fetal lower urinary tract obstruction (LUTO): a systematic review and meta-analysis. 61
30501534 2020
8
Decreased biventricular myocardial deformation in fetuses with lower urinary tract obstruction. 61
32787795 2020
9
Biometric and morphological features on magnetic resonance imaging of fetal bladder in lower urinary tract obstruction: new perspectives for fetal cystoscopy. 61
31006924 2020
10
Fetal anesthesia: intrauterine therapies and immediate postnatal anesthesia for noncardiac surgical interventions. 61
32324666 2020
11
Fetal lower urinary tract obstruction: What should we tell the prospective parents? 61
32065667 2020
12
Neurodevelopmental Outcome in Infants with Lower Urinary Tract Obstruction Based on Different Degrees of Severity. 61
32146466 2020
13
Fetal Cystoscopy and Vesicoamniotic Shunting in Lower Urinary Tract Obstruction: Long-Term Outcome and Current Technical Limitations. 61
31401627 2020
14
Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)-Development and internal validation. 61
31659787 2019
15
Fetal cardiac findings and hemodynamic changes associated with severe lower urinary tract obstruction in utero. 61
30908816 2019
16
Outcome of fetuses with lower urinary tract obstruction and normal amniotic fluid volume in second trimester of pregnancy. 61
30977189 2019
17
Congenital urinary tract obstruction. 61
30819578 2019
18
Fetal megacystis: a lot more than LUTO. 61
30043466 2019
19
Myocardial function in fetuses with lower urinary tract obstruction: Is there a cardiac remodeling effect due to renal damage? 61
30957256 2019
20
First-year profile of biomarkers for early detection of renal injury in infants with congenital urinary tract obstruction. 61
30694385 2019
21
The role of renal biomarkers to predict the need of surgery in congenital urinary tract obstruction in infants. 61
30979613 2019
22
Antenatal staging of congenital lower urinary tract obstruction. 61
29978555 2019
23
Surgical interventions and anesthesia in the 1st year of life for lower urinary tract obstruction. 61
30049573 2019
24
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. 61
29664229 2019
25
Neonatal survival and kidney function after prenatal interventions for obstructive uropathies. 61
31392712 2019
26
Effectiveness of Prenatal Intervention on the Outcome of Diseases That Have a Postnatal Urological Impact. 61
31001504 2019
27
Prenatal diagnosis of LUTO: improving diagnostic accuracy. 61
29266464 2018
28
Long-term renal outcome in infants with congenital lower urinary tract obstruction. 61
29980359 2018
29
Perinatal Outcomes of Fetal Lower Urinary Tract Obstruction After Vesicoamniotic Shunting Using a Double-Basket Catheter. 61
29498072 2018
30
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
31
Fetal surgery for lower urinary tract obstruction: the importance of staging prior to intervention. 61
29160637 2018
32
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
33
Natural History of Fetal Lower Urinary Tract Obstruction with Normal Amniotic Fluid Volume at Initial Diagnosis. 61
28700992 2018
34
Lower urinary tract obstruction: fetal intervention based on prenatal staging. 61
28730376 2017
35
Report on The Society for Fetal Urology panel discussion on the selection criteria and intervention for fetal bladder outlet obstruction. 61
28476482 2017
36
Effectiveness of vesicoamniotic shunt in fetuses with congenital lower urinary tract obstruction: an updated systematic review and meta-analysis. 61
27270578 2017
37
Finding pathways to national-scale land-sector sustainability. 61
28406202 2017
38
Incidence and Risk Factors of De novo Stress Urinary Incontinence after Pelvic Floor Reconstruction: A Nested Case-control Study. 61
28303850 2017
39
Evidence Suggesting the End of Universal Domestic Asbestos Exposure in Metsovo, NW Greece. 61
29020669 2017
40
Ultrasound guided balloon catheterisation: a new method of fetal lower urinary tract obstruction management. 61
28580571 2017
41
Early vesico-amniotic shunting - does it change the prognosis in fetal lower urinary tract obstruction diagnosed in the first trimester? 61
29057434 2017
42
Serial amnioinfusions for fetal pulmonary palliation in fetuses with renal failure. 61
26978650 2017
43
Are ultrasound renal aspects associated with urinary biochemistry in fetuses with lower urinary tract obstruction? 61
27862070 2016
44
Fetal lower urinary tract obstruction: proposal for standardized multidisciplinary prenatal management based on disease severity. 61
26690832 2016
45
Vesico-amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association. 61
27061706 2016
46
Factors associated with fetal shunt dislodgement in lower urinary tract obstruction. 61
27247093 2016
47
Factors associated with the grief after stillbirth: a comparative study between Brazilian and Canadian women. 61
27680038 2016
48
Taking care of the newborn dying and their families: Nurses' experiences of neonatal intensive care. 61
27384286 2016
49
Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. 61
26739350 2016
50
Defining and predicting 'intrauterine fetal renal failure' in congenital lower urinary tract obstruction. 61
26525197 2016

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.2636+499C>T SNV Pathogenic 624566 rs1350162888 9:16435054-16435054 9:16435056-16435056
2 BNC2 NM_017637.6(BNC2):c.2663A>G (p.His888Arg) SNV Pathogenic 599348 rs1563774686 9:16419624-16419624 9:16419626-16419626

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 rs156377468

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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