CAKUT2
MCID: PLV005
MIFTS: 38

Pelviureteric Junction Obstruction (CAKUT2) malady

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

Aliases & Classifications for Pelviureteric Junction Obstruction

Aliases & Descriptions for Pelviureteric Junction Obstruction:

Name: Pelviureteric Junction Obstruction 54 66 13
Multicystic Renal Dysplasia, Bilateral 50 66 69
Ureteropelvic Junction Obstruction 66 29
Hydronephrosis Due to Pujo 50 66
Pujo 50 66
Congenital Anomalies of Kidney and Urinary Tract 2 66
Bilateral Multicystic Dysplastic Kidneys 69
Bilateral Multicystic Renal Dysplasia 29
Obstruction of Pelviureteric Junction 69
Pelvi-Ureteric Junction Obstruction 50
Congenital Hydronephrosis 56
Cakut2 66
Mcrd 66
Upjo 66
Mrd 50

Characteristics:

Orphanet epidemiological data:

56
congenital hydronephrosis
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: any age;

HPO:

32
pelviureteric junction obstruction:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 143400
Orphanet 56 ORPHA2190
UMLS via Orphanet 70 C0266316
ICD10 via Orphanet 34 Q62.0
MedGen 40 C1840451
MeSH 42 D014718

Summaries for Pelviureteric Junction Obstruction

OMIM : 54 Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the... (143400) more...

MalaCards based summary : Pelviureteric Junction Obstruction, also known as multicystic renal dysplasia, bilateral, is related to huntington disease and bilateral multicystic dysplastic kidney, and has symptoms including abnormality of the cardiovascular system, polyhydramnios and oligohydramnios. An important gene associated with Pelviureteric Junction Obstruction is TBX18 (T-Box 18). The drugs Ropivacaine and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney and cortex.

UniProtKB/Swiss-Prot : 66 Congenital anomalies of kidney and urinary tract 2: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.

Related Diseases for Pelviureteric Junction Obstruction

Graphical network of the top 20 diseases related to Pelviureteric Junction Obstruction:



Diseases related to Pelviureteric Junction Obstruction

Symptoms & Phenotypes for Pelviureteric Junction Obstruction

Symptoms by clinical synopsis from OMIM:

143400

Clinical features from OMIM:

143400

Human phenotypes related to Pelviureteric Junction Obstruction:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cardiovascular system 56 32 Occasional (29-5%) HP:0001626
2 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
3 oligohydramnios 56 32 Occasional (29-5%) HP:0001562
4 hydronephrosis 56 32 Very frequent (99-80%) HP:0000126
5 congenital megaureter 56 32 Frequent (79-30%) HP:0008676
6 flank pain 32 HP:0030157
7 renal insufficiency 32 HP:0000083
8 nephrotic syndrome 32 HP:0000100
9 multicystic kidney dysplasia 32 HP:0000003
10 renal hypoplasia 32 HP:0000089
11 abnormality of the urinary system 56 Occasional (29-5%)
12 ureteropelvic junction obstruction 32 HP:0000074
13 hydroureter 32 HP:0000072
14 renal dysplasia 32 HP:0000110
15 cystic renal dysplasia 32 HP:0000800
16 renal sarcoma 32 HP:0008663

UMLS symptoms related to Pelviureteric Junction Obstruction:


flank pain

Drugs & Therapeutics for Pelviureteric Junction Obstruction

Drugs for Pelviureteric Junction Obstruction (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved 84057-95-4 71273 175805
2
Ibuprofen Approved 15687-27-1 3672
3 Anesthetics
4 Anesthetics, Local
5 Central Nervous System Depressants
6 Peripheral Nervous System Agents
7 Analgesics
8 Analgesics, Non-Narcotic
9 Anti-Inflammatory Agents
10 Anti-Inflammatory Agents, Non-Steroidal
11 Antirheumatic Agents
12 Cyclooxygenase Inhibitors
13 diuretics
14 Natriuretic Agents

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431
2 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
3 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877
4 Laparoscopic Pyeloplasty Registry and Database Completed NCT00169650
5 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046
6 Clinical Significance of Supranormal Differential Renal Function in the Recovery of Hydronephrosis Completed NCT01839006
7 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Recruiting NCT02713633
8 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970
9 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924
10 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212
11 Comparison of Dynamic Contrast Enhanced CT and Diuretic Renogram in The Evaluation of UPJO Terminated NCT00199472

Search NIH Clinical Center for Pelviureteric Junction Obstruction

Genetic Tests for Pelviureteric Junction Obstruction

Genetic tests related to Pelviureteric Junction Obstruction:

id Genetic test Affiliating Genes
1 Ureteropelvic Junction Obstruction 29
2 Multicystic Renal Dysplasia, Bilateral 29

Anatomical Context for Pelviureteric Junction Obstruction

MalaCards organs/tissues related to Pelviureteric Junction Obstruction:

39
Kidney, Cortex

Publications for Pelviureteric Junction Obstruction

Articles related to Pelviureteric Junction Obstruction:

(show all 27)
id Title Authors Year
1
Forming a stone in pelviureteric junction obstruction: Cause or effect? ( 28124521 )
2017
2
Laparoscopic transposition of lower pole crossing vessels (vascular hitch) in children with pelviureteric junction obstruction. ( 27867849 )
2016
3
Forming a stone in pelviureteric junction obstruction: Cause or effect? ( 27649107 )
2016
4
Isolated Renal Sinus Lymphangiectasia - Close Mimic of Pelviureteric Junction Obstruction and Hydronephrosis. ( 26494296 )
2015
5
Living kidney donation following nephrectomy due to pelviureteric junction obstruction. ( 26002670 )
2015
6
A modified suture technique for transperitoneal laparoscopic dismembered pyeloplasty of pelviureteric junction obstruction. ( 25530399 )
2015
7
Laparoscopic Transposition of Lower Pole Crossing Vessels (Vascular Hitch) in Children with Pelviureteric Junction Obstruction: How to Be Sure of the Success of the Procedure? ( 26091080 )
2015
8
Outcomes of endopyelotomy for pelviureteric junction obstruction in the paediatric population: A systematic review. ( 26553288 )
2015
9
Anderson-Hynes pyeloplasty with isthmotomy and lateropexy in horseshoe kidneys with pelviureteric junction obstruction in children. ( 24744513 )
2014
10
Plasma rennin activity: Early indicator of renal injury in bilateral pelviureteric junction obstruction in children. ( 25371604 )
2014
11
SIMPLE Technique of Laparoscopic Nephrectomy for Ectopic Nonfunctioning Pelvic Kidney Secondary to Pelviureteric Junction Obstruction: A Feasible and Safe Technique. ( 25140271 )
2014
12
A complex case of abdominal pain in a patient with pelviureteric junction obstruction. ( 25097699 )
2014
13
Lower pole vessels in children with pelviureteric junction obstruction: laparoscopic vascular hitch or dismembered pyeloplasty? ( 22854387 )
2013
14
Management of secondary pelviureteric junction obstruction. ( 24235791 )
2013
15
Extrarenal calyces associated with pelviureteric junction obstruction: A case report of a rare anomaly. ( 22869979 )
2012
16
Early alteration of urinary exosomal aquaporin 1 and transforming growth factor I^1 after release of unilateral pelviureteral junction obstruction. ( 22901921 )
2012
17
Massive pelviureteric junction obstruction: the role of focused ultrasound in the emergency investigation of abdominal masses in children. ( 21546509 )
2011
18
An audit of routine grey scale sonograghic imaging for pelviureteric junction obstruction: do they identify lower polar vessels? ( 20098002 )
2010
19
Pevis/cortex ratio in pelviureteric junction obstruction. ( 21369374 )
2010
20
The expression of Cajal cells at the obstruction site of congenital pelviureteric junction obstruction and quantitative image analysis. ( 20006022 )
2009
21
Laparoscopic pyeloplasty for repair of pelviureteric junction obstruction in children. ( 19215207 )
2009
22
Case report: Anomalous systemic drainage of ileocolic veins (veins of Retzius) causing pelviureteric junction obstruction. ( 19774168 )
2008
23
Transitional cell cancer of ureter misdiagnosed as pelviureteric junction obstruction: pitfalls of standard diagnostic tools. ( 19112212 )
2008
24
Management of an unusual case of atypical Mayer-Rokitansky-Kuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction. ( 17093891 )
2007
25
Glial cell line-derived neurotrophic factor and synaptophysin expression in pelviureteral junction obstruction. ( 16461096 )
2006
26
Survival in second trimester oligohydramnios secondary to bilateral pelviureteral junction obstruction. ( 12736042 )
2003
27
Pelviureteral junction obstruction: correlation of renal cell apoptosis and differential renal function. ( 12771794 )
2003

Variations for Pelviureteric Junction Obstruction

UniProtKB/Swiss-Prot genetic disease variations for Pelviureteric Junction Obstruction:

66
id Symbol AA change Variation ID SNP ID
1 TBX18 p.Lys163Glu VAR_074629 rs797045022
2 TBX18 p.His524Tyr VAR_074631 rs760905589

ClinVar genetic disease variations for Pelviureteric Junction Obstruction:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX18 NM_001080508.2(TBX18): c.1010delG (p.Gly337Valfs) deletion Pathogenic rs869320679 GRCh37 Chromosome 6, 85448304: 85448304
2 TBX18 NM_001080508.2(TBX18): c.1570C> T (p.His524Tyr) single nucleotide variant Pathogenic rs760905589 GRCh37 Chromosome 6, 85446657: 85446657
3 TBX18 NM_001080508.2(TBX18): c.487A> G (p.Lys163Glu) single nucleotide variant Pathogenic rs797045022 GRCh37 Chromosome 6, 85472272: 85472272

Expression for Pelviureteric Junction Obstruction

Search GEO for disease gene expression data for Pelviureteric Junction Obstruction.

Pathways for Pelviureteric Junction Obstruction

GO Terms for Pelviureteric Junction Obstruction

Sources for Pelviureteric Junction Obstruction

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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