MCID: CNG499
MIFTS: 43

Congenital Anomalies of Kidney and Urinary Tract 2

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

Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract 2

MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 2:

Name: Congenital Anomalies of Kidney and Urinary Tract 2 57 75
Multicystic Renal Dysplasia, Bilateral 57 53 75 29 6 73
Ureteropelvic Junction Obstruction 57 12 75 29
Pelviureteric Junction Obstruction 57 75 13
Hydronephrosis Due to Pujo 57 53 75
Cakut2 57 12 75
Pujo 57 53 75
Upjo 57 75
Mcrd 57 75
Kidney and Urinary Tract, Anomalies, Congenital, Type 2 40
Multicystic Renal Dysplasia, Bilateral; Mcrd 57
Ureteropelvic Junction Obstruction; Upjo 57
Pelviureteric Junction Obstruction; Pujo 57
Obstruction of Pelviureteric Junction 73
Pelvi-Ureteric Junction Obstruction 53
Congenital Hydronephrosis 59
Urogenital Abnormalities 44
Mrd 53

Characteristics:

Orphanet epidemiological data:

59
congenital hydronephrosis
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
some patients may be asymptomatic
variable age at onset (range prenatal to mid-adulthood)
some patients may need surgery or renal transplant
four unrelated families have been reported (last curated september 2015)


HPO:

32
congenital anomalies of kidney and urinary tract 2:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 143400
Disease Ontology 12 DOID:0080207 DOID:0111145
Orphanet 59 ORPHA2190
UMLS via Orphanet 74 C0266316
ICD10 via Orphanet 34 Q62.0
MeSH 44 D014564
ICD10 33 Q62.0

Summaries for Congenital Anomalies of Kidney and Urinary Tract 2

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97364Disease definitionBilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK, see this term), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.EpidemiologyThe prevalence and incidence of bilateral MCDK are unknown.Clinical descriptionBilateral MCDK may be suspected antenatally at routine ultrasound scans, with the majority detected around the 20th week of gestation. It is considered a lethal entity, and most pregnancies are terminated. When born, such infants present with features of the Potter sequence (constellation of signs resulting from prolonged in utero oligohydramnios) including severe pulmonary hypoplasia and severe renal failure, limb anomalies and facial dysmorphic features, and generally die shortly after birth.EtiologyMCDK results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Disturbed formation of nephrons could result from impaired fetal urine flow early in development. Mutations in the HNF1B gene (17q12), coding for hepatocyte nuclear transcription factor 1β, are known to cause unilateral MCDK and have only rarely been reported for bilateral cases. MCDK is also linked to gestational diabetes and to the use of some medications during pregnancy, such as anti-epileptic drugs.Visit the Orphanet disease page for more resources.

MalaCards based summary : Congenital Anomalies of Kidney and Urinary Tract 2, also known as multicystic renal dysplasia, bilateral, is related to acro-pectoro-renal field defect and hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation, and has symptoms including flank pain An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 2 is TBX18 (T-Box 18). The drugs Ropivacaine and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and monocytes, and related phenotypes are abnormality of the cardiovascular system and polyhydramnios

OMIM : 57 Congenital anomalies of the kidneys and urinary tract (CAKUT) encompasses a spectrum of developmental disorders of the urinary tract that can range from mild vesicoureteral reflux to severe renal agenesis. Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by Vivante et al., 2015). (143400)

UniProtKB/Swiss-Prot : 75 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.

Disease Ontology : 12 A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter.

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 2

Diseases in the Congenital Anomalies of Kidney and Urinary Tract 2 family:

Congenital Anomalies of Kidney and Urinary Tract 1

Diseases related to Congenital Anomalies of Kidney and Urinary Tract 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 acro-pectoro-renal field defect 11.5
2 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.5
3 congenital anomalies of kidney and urinary tract 1 11.4
4 bilateral multicystic dysplastic kidney 11.4
5 mesomelia-synostoses syndrome 10.9
6 hand-foot-genital syndrome 10.7
7 schimmelpenning-feuerstein-mims syndrome 10.7
8 fraser syndrome 1 10.7
9 dk phocomelia syndrome 10.7
10 rudiger syndrome 10.7
11 alpha-thalassemia/mental retardation syndrome, x-linked 10.7
12 hypotonia, ataxia, and delayed development syndrome 10.7
13 fraser syndrome 2 10.7
14 fraser syndrome 3 10.7
15 leukemia 10.3
16 myeloid leukemia 10.1
17 hydronephrosis 10.1
18 leukemia, acute myeloid 10.1
19 leukemia, acute lymphoblastic 10.1
20 lymphoblastic leukemia 10.1
21 lymphoma 10.0
22 renal cell carcinoma, nonpapillary 10.0
23 mayer-rokitansky-kuster-hauser syndrome 10.0
24 gonadal agenesis 10.0
25 ileocolitis 10.0
26 oligohydramnios 10.0
27 horseshoe kidney 10.0
28 prolymphocytic leukemia 9.9
29 growth hormone deficiency 9.8
30 breast cancer 9.8
31 wilms tumor 5 9.8
32 wilms tumor 6 9.8
33 hematopoietic stem cell transplantation 9.8
34 lymphoblastic lymphoma 9.8
35 mantle cell lymphoma 9.8
36 hairy cell leukemia 9.8
37 refractory hairy cell leukemia 9.8
38 childhood leukemia 9.8
39 smoldering myeloma 9.8
40 silver-russell syndrome 9.7
41 denys-drash syndrome 9.7
42 polydactyly 9.7
43 chromosome 1q21.1 deletion syndrome, 1.35-mb 9.7
44 congenital hypothyroidism 9.7
45 alpha thalassemia-x-linked intellectual disability syndrome 9.7
46 hypothyroidism 9.7
47 cleft lip 9.7
48 encephalocele 9.7
49 cleft lip/palate 9.7

Graphical network of the top 20 diseases related to Congenital Anomalies of Kidney and Urinary Tract 2:



Diseases related to Congenital Anomalies of Kidney and Urinary Tract 2

Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract 2

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Bladder:
ureteropelvic junction obstruction

Genitourinary Ureters:
megaureter

Genitourinary Kidneys:
hydronephrosis
renal dysplasia
hypoplastic kidneys
renal asymmetry
pelviectasis
more
Genitourinary:
flank pain


Clinical features from OMIM:

143400

Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cardiovascular system 59 32 occasional (7.5%) Occasional (29-5%) HP:0001626
2 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
3 oligohydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001562
4 hydronephrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000126
5 congenital megaureter 59 32 frequent (33%) Frequent (79-30%) HP:0008676
6 renal insufficiency 32 occasional (7.5%) HP:0000083
7 nephrotic syndrome 32 HP:0000100
8 multicystic kidney dysplasia 32 HP:0000003
9 renal hypoplasia 32 HP:0000089
10 abnormality of the urinary system 59 Occasional (29-5%)
11 ureteropelvic junction obstruction 32 HP:0000074
12 hydroureter 32 HP:0000072
13 renal dysplasia 32 HP:0000110
14 cystic renal dysplasia 32 HP:0000800
15 flank pain 32 HP:0030157
16 renal sarcoma 32 HP:0008663

UMLS symptoms related to Congenital Anomalies of Kidney and Urinary Tract 2:


flank pain

Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract 2

Drugs for Congenital Anomalies of Kidney and Urinary Tract 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805
2
Lamivudine Approved, Investigational 134678-17-4 60825
3
Ibuprofen Approved Not Applicable 15687-27-1 3672
4 Anesthetics Not Applicable
5 Anesthetics, Local Not Applicable
6 Central Nervous System Depressants Not Applicable
7 Peripheral Nervous System Agents Not Applicable
8 diuretics ,Not Applicable
9 Analgesics Not Applicable
10 Analgesics, Non-Narcotic Not Applicable
11 Anti-Inflammatory Agents Not Applicable
12 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
13 Antirheumatic Agents Not Applicable
14 Cyclooxygenase Inhibitors Not Applicable
15 Natriuretic Agents Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431 Not Applicable
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 Not Applicable
4 Laparoscopic Pyeloplasty Registry and Database Completed NCT00169650
5 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046 Not Applicable
6 Clinical Significance of Supranormal Differential Renal Function in the Recovery of Hydronephrosis Completed NCT01839006
7 Determination of the "Tissue Transit Time" (TTT) Recruiting NCT03311256
8 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Not Applicable Ibuprofen;Placebo
9 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924 Not Applicable
10 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212 Not Applicable
11 Ureteral Stent Versus Percutaneous Nephrostomy in Acutely Obstructed Infected Kidney Not yet recruiting NCT03498794 Not Applicable
12 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633 Not Applicable
13 Comparison of Dynamic Contrast Enhanced CT and Diuretic Renogram in The Evaluation of UPJO Withdrawn NCT00199472

Search NIH Clinical Center for Congenital Anomalies of Kidney and Urinary Tract 2

Cochrane evidence based reviews: urogenital abnormalities

Genetic Tests for Congenital Anomalies of Kidney and Urinary Tract 2

Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract 2:

# Genetic test Affiliating Genes
1 Ureteropelvic Junction Obstruction 29
2 Multicystic Renal Dysplasia, Bilateral 29 TBX18

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 2

MalaCards organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 2:

41
Kidney, Endothelial, Monocytes

Publications for Congenital Anomalies of Kidney and Urinary Tract 2

Articles related to Congenital Anomalies of Kidney and Urinary Tract 2:

(show top 50) (show all 128)
# Title Authors Year
1
Comparison of the F+20 and F-15 Diuresis Technetium-99m Diethylenetriaminepentacetate Renography Protocols for Diagnosis of Ureteropelvic Junction Obstruction in Adult Patients with Hydronephrosis. ( 29430113 )
2018
2
Ureteropelvic junction obstruction - mimicking an "elephant head" on magnetic resonance imaging. ( 29343921 )
2018
3
Predictors of Recoverability of Renal Function after Pyeloplasty in Adults with Ureteropelvic Junction Obstruction. ( 29346779 )
2018
4
Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link? ( 29181209 )
2017
5
To screen or not to screen for vesicoureteral reflux in children with ureteropelvic junction obstruction: a systematic review. ( 27888411 )
2017
6
Reoperative Laparoscopic Ureteropelvic Junction Obstruction Repair in Children: Safety and Efficacy of the Technique. ( 27789217 )
2017
7
Laparoscopic ureterocalicostomy for ureteropelvic junction obstruction in a 10-year-old female patient: a case report. ( 28683770 )
2017
8
Percent of Tracer Clearance at 40a88Minutes in MAG3 Renal Scans Is More Sensitive Than T<sub>1/2</sub>for Symptomatic Ureteropelvic Junction Obstruction. ( 28161380 )
2017
9
Is urine intercellular adhesion molecule-1 a marker of renal disorder in children with ureteropelvic junction obstruction? ( 26631256 )
2016
10
Unusual Presentation of Duplex Kidneys: Ureteropelvic Junction Obstruction. ( 27829833 )
2016
11
Giant hydronephrosis due to ureteropelvic junction obstruction: A rare case report, and a review of the literature. ( 27330757 )
2016
12
Use of Contrasted Computerized Tomography as a Surrogate for Nuclear Medicine Renogram to Categorize Renal Function in the Setting of Ureteropelvic Junction Obstruction. ( 27450941 )
2016
13
Transitional cell carcinoma: A rare development in congenital ureteropelvic junction obstruction kidney. ( 26941502 )
2016
14
Transmesenteric robot-assisted pyeloplasty for ureteropelvic junction obstruction in horseshoe kidney. ( 27286132 )
2016
15
Imaging for Vesicoureteral Reflux and Ureteropelvic Junction Obstruction. ( 28723527 )
2016
16
Spontaneous large renal pelvis hematoma in ureteropelvic junction obstruction presenting as an acute abdomen: Rare case report. ( 27141202 )
2016
17
Comparison Between Diuretic Urography (IVP) and Diuretic Renography for Diagnosis of Ureteropelvic Junction Obstruction in Children. ( 26848379 )
2016
18
Laparoscopic Pyeloplasty for Ureteropelvic Junction Obstruction in an Incompletely Duplicated Collecting System in a Patient with a Horseshoe Kidney. ( 27733990 )
2016
19
Sonic hedgehog, TBX18, and TSHZ3 proteins involved in pyeloureteral motility development are overexpressed in ureteropelvic junction obstruction. An immunohistochemical, histopathological, and clinical comparative study. ( 27381532 )
2016
20
Factors associated with age at pyeloplasty in children with ureteropelvic junction obstruction. ( 26143412 )
2015
21
Hydronephrosis: Comparison of extrinsic vessel versus intrinsic ureteropelvic junction obstruction groups and a plea against the vascular hitch procedure. ( 25794866 )
2015
22
Distal ureteral atresia with ureteropelvic junction obstruction in a female child: a rare case. ( 25785157 )
2015
23
An innovative technique of robotic-assisted/laparoscopic re-pyeloplasty in horseshoe kidney in patients with failed previous pyeloplasty for ureteropelvic junction obstruction. ( 26675936 )
2015
24
Occult Congenital Ureteropelvic Junction Obstruction in Two Adults Presenting with Collecting System Rupture After Blunt Renal Trauma: A Case Report Series. ( 27579396 )
2015
25
Urine exoglycosidases are potential markers of renal tubular injury in children with ureteropelvic junction obstruction. ( 26095925 )
2015
26
Preliminary experience with laparoscopic Foley's YV plasty for ureteropelvic junction obstruction in children. ( 24761080 )
2014
27
Dynamic contrast-enhanced MR renography for renal function evaluation in ureteropelvic junction obstruction: feasibility study. ( 24660706 )
2014
28
Correction of ureteropelvic junction obstruction in children: national trends and comparative effectiveness in operative outcomes. ( 24372348 )
2014
29
Massive Hydronephrosis from Ureteropelvic Junction Obstruction Masquerading as a Paratubal Cyst in an 11-Year-Old Girl. ( 25823721 )
2014
30
Determination of the severity of ureteropelvic junction obstruction using urinary epidermal growth factor and kidney injury molecule 1 levels. ( 25525980 )
2014
31
Retroperitoneal Laparoscopic Management of Ureteropelvic Junction Obstruction in Patients With Horseshoe Kidney. ( 25242437 )
2014
32
Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients. ( 24995698 )
2014
33
Management of ureteropelvic junction obstruction in adults. ( 25287785 )
2014
34
Rapid and sustained recovery of renal function with transient placement of an intrauretral nephrostomy catheter in an infant with ureteropelvic junction obstruction and acute renal failure. ( 24684127 )
2014
35
Re: Nerli RB, Reddy MN, Hiremath MB, Shishir D, PatilA SM, Guntaka A. Surgical outcomes of laparoscopic dismembered pyeloplasty in children with giant hydronephrosis secondary to ureteropelvic junction obstruction. J Pediatr Urol. 2011 Sep 12 [Epub ahead of print]. ( 22687343 )
2013
36
Postnatal evaluation of intrauterine hydronephrosis due to ureteropelvic junction obstruction. ( 23381821 )
2013
37
Response to 'Re: Nerli RB, Reddy MN, Hiremath MB, Shishir D, Patil SM, Guntaka A. Surgical outcomes of laparoscopic dismembered pyeloplasty in children with giant hydronephrosis secondary to ureteropelvic junction obstruction. J Pediatr Urol 2011 Sep 12 [Epub ahead of print]'. ( 22695377 )
2013
38
The outcome of initial endoscopic treatment in the management of concomitant vesicoureteral reflux and ureteropelvic junction obstruction. ( 23608426 )
2013
39
Surgical outcomes of laparoscopic dismembered pyeloplasty in children with giant hydronephrosis secondary to ureteropelvic junction obstruction. ( 21917524 )
2012
40
Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction. ( 21927809 )
2012
41
Urinary heme oxygenase-1 in children with congenital hydronephrosis due to ureteropelvic junction obstruction. ( 22630328 )
2012
42
Dismembered laparoscopic Anderson-Hynes pyeloplasty versus nondismembered laparoscopic Y-V pyeloplasty in the treatment of patients with primary ureteropelvic junction obstruction: a prospective study. ( 22515336 )
2012
43
Renal osteodystrophy secondary to congenital bilateral ureteropelvic junction obstruction. ( 22090060 )
2011
44
The minimally invasive management of ureteropelvic junction obstruction in horseshoe kidneys. ( 20204377 )
2011
45
Urinary epidermal growth factor, monocyte chemotactic protein-1, and I^2-microglobulin in children with ureteropelvic junction obstruction. ( 21376205 )
2011
46
Comparison of laparoscopic pyeloplasty for ureteropelvic junction obstruction in adults and children: lessons learned. ( 21334661 )
2011
47
Long-term outcomes of dismembered pyeloplasty for midline-crossing giant hydronephrosis caused by ureteropelvic junction obstruction in children. ( 20800889 )
2010
48
Ureteropelvic junction obstruction and calyceal diverticulum in a child with Turner syndrome and horseshoe kidney. ( 20843761 )
2010
49
Robotic management of complicated ureteropelvic junction obstruction. ( 19711084 )
2010
50
Management of severe bilateral ureteropelvic junction obstruction in neonates with prenatally diagnosed bilateral hydronephrosis. ( 20856652 )
2010

Variations for Congenital Anomalies of Kidney and Urinary Tract 2

UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

75
# 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 Congenital Anomalies of Kidney and Urinary Tract 2:

6
# 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.1010delG (p.Gly337Valfs) deletion Pathogenic rs869320679 GRCh38 Chromosome 6, 84738586: 84738586
3 TBX18 NM_001080508.2(TBX18): c.1570C> T (p.His524Tyr) single nucleotide variant Pathogenic rs760905589 GRCh37 Chromosome 6, 85446657: 85446657
4 TBX18 NM_001080508.2(TBX18): c.1570C> T (p.His524Tyr) single nucleotide variant Pathogenic rs760905589 GRCh38 Chromosome 6, 84736939: 84736939
5 TBX18 NM_001080508.2(TBX18): c.487A> G (p.Lys163Glu) single nucleotide variant Pathogenic rs797045022 GRCh37 Chromosome 6, 85472272: 85472272
6 TBX18 NM_001080508.2(TBX18): c.487A> G (p.Lys163Glu) single nucleotide variant Pathogenic rs797045022 GRCh38 Chromosome 6, 84762554: 84762554

Expression for Congenital Anomalies of Kidney and Urinary Tract 2

Search GEO for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 2.

Pathways for Congenital Anomalies of Kidney and Urinary Tract 2

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 2

Sources for Congenital Anomalies of Kidney and Urinary Tract 2

3 CDC
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11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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