CAKUT2
MCID: CNG499
MIFTS: 57

Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare 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 15
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
Congenital Anomalies of the Kidney and Urinary Tract 2 12
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:



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 hydronephrosis and vesicoureteral reflux 1, and has symptoms including flank pain An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 2 is TBX18 (T-Box 18), and among its related pathways/superpathways are Regulation of Telomerase and Lung fibrosis. The drugs Lamivudine and Ropivacaine 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

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

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.

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 top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 hydronephrosis 31.6 TSHZ3 TGFB1 EGF
2 vesicoureteral reflux 1 30.3 ROBO2 PLEKHF1
3 familial vesicoureteral reflux 30.1 TGFB1 ROBO2
4 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.7
5 congenital anomalies of kidney and urinary tract 1 11.6
6 bilateral multicystic dysplastic kidney 11.5
7 mesomelia-synostoses syndrome 11.0
8 schimmelpenning-feuerstein-mims syndrome 10.9
9 fraser syndrome 1 10.9
10 dk phocomelia syndrome 10.9
11 rudiger syndrome 10.9
12 tonne-kalscheuer syndrome 10.9
13 alpha-thalassemia/mental retardation syndrome, x-linked 10.9
14 hypotonia, ataxia, and delayed development syndrome 10.9
15 fraser syndrome 2 10.9
16 fraser syndrome 3 10.9
17 horseshoe kidney 10.6
18 leukemia 10.5
19 lymphocytic leukemia 10.4
20 leukemia, acute lymphoblastic 10.4
21 nephrolithiasis 10.4
22 myeloid leukemia 10.3
23 leukemia, acute myeloid 10.3
24 acute lymphocytic leukemia 10.3
25 myeloma, multiple 10.2
26 acute lymphoblastic leukemia, childhood 10.2
27 nephrolithiasis, calcium oxalate 10.2
28 wilms tumor 6 10.2
29 turner syndrome 10.2
30 duodenal obstruction 10.2
31 disseminated intravascular coagulation 10.1
32 angiomyolipoma 10.1
33 achalasia 10.1
34 renal cell carcinoma, nonpapillary 10.1
35 mayer-rokitansky-kuster-hauser syndrome 10.1
36 gonadal agenesis 10.1
37 oligohydramnios 10.1
38 horns in sheep 10.1
39 hematopoietic stem cell transplantation 10.0
40 prolymphocytic leukemia 10.0
41 renal hypodysplasia/aplasia 1 10.0
42 renal dysplasia, cystic 10.0
43 crohn's disease 10.0
44 myelomeningocele 10.0
45 polycystic kidney disease 10.0
46 pyelonephritis 10.0
47 ureter leiomyoma 10.0
48 leiomyoma 10.0
49 renal osteodystrophy 10.0
50 acute cystitis 10.0

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

MGI Mouse Phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.35 KIT ROBO2 TBX18 TGFB1 TSHZ3
2 respiratory system MP:0005388 9.02 KIT ROBO2 TBX18 TGFB1 TSHZ3

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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational 134678-17-4 60825
2
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
3
Ibuprofen Approved Not Applicable 15687-27-1 3672
4 Natriuretic Agents Not Applicable
5 diuretics Not Applicable
6 Anesthetics, Local Not Applicable
7 Anesthetics Not Applicable
8 Peripheral Nervous System Agents Not Applicable
9 Central Nervous System Depressants Not Applicable
10 Analgesics Not Applicable
11 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
12 Analgesics, Non-Narcotic Not Applicable
13 Anti-Inflammatory Agents Not Applicable
14 Antirheumatic Agents Not Applicable
15 Cyclooxygenase Inhibitors Not Applicable
16 Anti-Infective Agents Not Applicable
17 Antibiotics, Antitubercular Not Applicable
18 Anti-Bacterial Agents Not Applicable

Interventional clinical trials:

(show all 14)
# 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 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Unknown status NCT02276924 Not Applicable
4 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877 Not Applicable
5 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212 Not Applicable
6 Laparoscopic Pyeloplasty Registry and Database Completed NCT00169650
7 Determination of the "Tissue Transit Time" (TTT) Recruiting NCT03311256
8 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633 Not Applicable
9 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046 Not Applicable
10 Comparison of Dynamic Contrast Enhanced CT and Diuretic Renogram in The Evaluation of UPJO Withdrawn NCT00199472
11 Clinical Significance of Supranormal Differential Renal Function in the Recovery of Hydronephrosis Completed NCT01839006
12 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Not Applicable Ibuprofen;Placebo
13 Ureteral Stent Versus Percutaneous Nephrostomy in Acutely Obstructed Infected Kidney Not yet recruiting NCT03498794 Not Applicable
14 Stereotactic Body Radiation Therapy Versus Radiofrequency Ablation for Small Renal Masses Not yet recruiting NCT03811665 Not Applicable

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 Multicystic Renal Dysplasia, Bilateral 29 TBX18
2 Ureteropelvic Junction Obstruction 29

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, Breast, Thyroid, T Cells, Myeloid

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 147)
# 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
Hydronephrosis From Ureteropelvic Junction Obstruction Discovered on Point-of-Care Ultrasound in Patients With Trauma. ( 29509651 )
2018
5
Predictive Factors of Contralateral Operation after Initial Pyeloplasty in Children with Antenatally Detected Bilateral Hydronephrosis Due to Ureteropelvic Junction Obstruction. ( 29518792 )
2018
6
Ureteropelvic Junction Obstruction Underlying Pyelonephritis in an Adult. ( 30210133 )
2018
7
A peripelvic renal cyst resulting in clinically symptomatic ureteropelvic junction obstruction. ( 29321973 )
2018
8
Ureteropelvic Junction Obstruction and Parathyroid Adenoma: Coincidence or Link? ( 29181209 )
2017
9
To screen or not to screen for vesicoureteral reflux in children with ureteropelvic junction obstruction: a systematic review. ( 27888411 )
2017
10
Reoperative Laparoscopic Ureteropelvic Junction Obstruction Repair in Children: Safety and Efficacy of the Technique. ( 27789217 )
2017
11
Laparoscopic ureterocalicostomy for ureteropelvic junction obstruction in a 10-year-old female patient: a case report. ( 28683770 )
2017
12
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
13
Is it Always Necessary to Treat an Asymptomatic Hydronephrosis Due to Ureteropelvic Junction Obstruction? ( 28466405 )
2017
14
Hydronephrosis in the course of ureteropelvic junction obstruction: An underestimated problem? Current opinions on the pathogenesis, diagnosis and treatment. ( 29068584 )
2017
15
Is urine intercellular adhesion molecule-1 a marker of renal disorder in children with ureteropelvic junction obstruction? ( 26631256 )
2016
16
Unusual Presentation of Duplex Kidneys: Ureteropelvic Junction Obstruction. ( 27829833 )
2016
17
Giant hydronephrosis due to ureteropelvic junction obstruction: A rare case report, and a review of the literature. ( 27330757 )
2016
18
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
19
Transitional cell carcinoma: A rare development in congenital ureteropelvic junction obstruction kidney. ( 26941502 )
2016
20
Transmesenteric robot-assisted pyeloplasty for ureteropelvic junction obstruction in horseshoe kidney. ( 27286132 )
2016
21
Imaging for Vesicoureteral Reflux and Ureteropelvic Junction Obstruction. ( 28723527 )
2016
22
Spontaneous large renal pelvis hematoma in ureteropelvic junction obstruction presenting as an acute abdomen: Rare case report. ( 27141202 )
2016
23
Comparison Between Diuretic Urography (IVP) and Diuretic Renography for Diagnosis of Ureteropelvic Junction Obstruction in Children. ( 26848379 )
2016
24
Laparoscopic Pyeloplasty for Ureteropelvic Junction Obstruction in an Incompletely Duplicated Collecting System in a Patient with a Horseshoe Kidney. ( 27733990 )
2016
25
Pyelocystostomy for treatment of recurrent nephrolithiasis and ureteropelvic junction obstruction in a pelvic kidney. ( 27705735 )
2016
26
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
27
Factors associated with age at pyeloplasty in children with ureteropelvic junction obstruction. ( 26143412 )
2015
28
Hydronephrosis: Comparison of extrinsic vessel versus intrinsic ureteropelvic junction obstruction groups and a plea against the vascular hitch procedure. ( 25794866 )
2015
29
Distal ureteral atresia with ureteropelvic junction obstruction in a female child: a rare case. ( 25785157 )
2015
30
An innovative technique of robotic-assisted/laparoscopic re-pyeloplasty in horseshoe kidney in patients with failed previous pyeloplasty for ureteropelvic junction obstruction. ( 26675936 )
2015
31
Occult Congenital Ureteropelvic Junction Obstruction in Two Adults Presenting with Collecting System Rupture After Blunt Renal Trauma: A Case Report Series. ( 27579396 )
2015
32
Delayed Presentation of Ureteropelvic Junction Obstruction and Loss of Renal Function After Initially Mild (SFU Grade 1-2) Hydronephrosis. ( 26051841 )
2015
33
Giant hydronephrosis secondary to ureteropelvic junction obstruction in adults: report of a case and review of literatures. ( 26064410 )
2015
34
Improved split renal function after percutaneous nephrostomy in young adults with severe hydronephrosis due to ureteropelvic junction obstruction. ( 25014578 )
2015
35
The effect of preoperative urinary tract infection on postoperative renal function in prenatally diagnosed ureteropelvic junction obstruction: Indications for the timing of pyeloplasty. ( 26427842 )
2015
36
Preliminary experience with laparoscopic Foley's YV plasty for ureteropelvic junction obstruction in children. ( 24761080 )
2014
37
Dynamic contrast-enhanced MR renography for renal function evaluation in ureteropelvic junction obstruction: feasibility study. ( 24660706 )
2014
38
Correction of ureteropelvic junction obstruction in children: national trends and comparative effectiveness in operative outcomes. ( 24372348 )
2014
39
Massive Hydronephrosis from Ureteropelvic Junction Obstruction Masquerading as a Paratubal Cyst in an 11-Year-Old Girl. ( 25823721 )
2014
40
Determination of the severity of ureteropelvic junction obstruction using urinary epidermal growth factor and kidney injury molecule 1 levels. ( 25525980 )
2014
41
Retroperitoneal Laparoscopic Management of Ureteropelvic Junction Obstruction in Patients With Horseshoe Kidney. ( 25242437 )
2014
42
Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients. ( 24995698 )
2014
43
Management of ureteropelvic junction obstruction in adults. ( 25287785 )
2014
44
Hydronephrosis after retroperitoneal laparoscopic dismembered Anderson-Hynes pyeloplasty in adult patients with ureteropelvic junction obstruction: A longitudinal analysis. ( 24982795 )
2014
45
Approach to kidney stones associated with ureteropelvic junction obstruction during laparoscopic pyeloplasty. ( 24757538 )
2014
46
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
47
Postnatal evaluation of intrauterine hydronephrosis due to ureteropelvic junction obstruction. ( 23381821 )
2013
48
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
49
The outcome of initial endoscopic treatment in the management of concomitant vesicoureteral reflux and ureteropelvic junction obstruction. ( 23608426 )
2013
50
Surgical outcomes of laparoscopic dismembered pyeloplasty in children with giant hydronephrosis secondary to ureteropelvic junction obstruction. ( 21917524 )
2012

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.487A> G (p.Lys163Glu) single nucleotide variant Pathogenic rs797045022 GRCh38 Chromosome 6, 84762554: 84762554
2 TBX18 NM_001080508.2(TBX18): c.487A> G (p.Lys163Glu) single nucleotide variant Pathogenic rs797045022 GRCh37 Chromosome 6, 85472272: 85472272
3 TBX18 NM_001080508.2(TBX18): c.1570C> T (p.His524Tyr) single nucleotide variant Pathogenic rs760905589 GRCh38 Chromosome 6, 84736939: 84736939
4 TBX18 NM_001080508.2(TBX18): c.1570C> T (p.His524Tyr) single nucleotide variant Pathogenic rs760905589 GRCh37 Chromosome 6, 85446657: 85446657
5 TBX18 NM_001080508.2(TBX18): c.1010delG (p.Gly337Valfs) deletion Pathogenic rs869320679 GRCh38 Chromosome 6, 84738586: 84738586
6 TBX18 NM_001080508.2(TBX18): c.1010delG (p.Gly337Valfs) deletion Pathogenic rs869320679 GRCh37 Chromosome 6, 85448304: 85448304

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

Pathways related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.19 EGF TGFB1
2 11.12 EGF TGFB1
3 11.02 EGF TGFB1
4 10.88 KIT TGFB1
5 10.56 EGF LPP
6 10.48 EGF KIT TGFB1

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 2

Biological processes related to Congenital Anomalies of Kidney and Urinary Tract 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.63 EGF KIT TGFB1
2 MAPK cascade GO:0000165 9.58 EGF KIT TGFB1
3 epidermal growth factor receptor signaling pathway GO:0007173 9.51 EGF TGFB1
4 ureteric bud development GO:0001657 9.49 ROBO2 TGFB1
5 T cell differentiation GO:0030217 9.48 KIT TGFB1
6 response to radiation GO:0009314 9.43 KIT TGFB1
7 digestive tract development GO:0048565 9.37 KIT TGFB1
8 positive regulation of protein kinase B signaling GO:0051897 9.33 EGF KIT TGFB1
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.32 KIT TGFB1
10 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.26 EGF TGFB1
11 germ cell migration GO:0008354 8.96 KIT TGFB1
12 positive regulation of MAP kinase activity GO:0043406 8.8 EGF KIT TGFB1

Sources for Congenital Anomalies of Kidney and Urinary Tract 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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