CAKUT2
MCID: CNG499
MIFTS: 54

Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2)

Categories: Genetic diseases, Nephrological diseases, Rare diseases
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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 73 28 5
Multicystic Renal Dysplasia, Bilateral 57 19 73 71
Ureteropelvic Junction Obstruction 57 11 73 14
Cakut2 57 11 73 14
Pelviureteric Junction Obstruction 57 73 12
Hydronephrosis Due to Pujo 57 19 73
Pujo 57 19 73
Upjo 57 73
Mcrd 57 73
Kidney and Urinary Tract, Anomalies, Congenital, Type 2 38
Congenital Anomalies of the Kidney and Urinary Tract 2 11
Obstruction of Pelviureteric Junction 71
Pelvi-Ureteric Junction Obstruction 19
Mrd 19

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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)


Classifications:



External Ids:

Disease Ontology 11 DOID:0080207 DOID:0111145
OMIM® 57 143400
OMIM Phenotypic Series 57 PS610805
MeSH 43 D014564
UMLS 71 C0521619 C1840451

Summaries for Congenital Anomalies of Kidney and Urinary Tract 2

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). For a discussion of genetic heterogeneity of CAKUT, see 610805. (143400) (Updated 08-Dec-2022)

MalaCards based summary: Congenital Anomalies of Kidney and Urinary Tract 2, also known as multicystic renal dysplasia, bilateral, is related to urinary tract infection and hydronephrosis, and has symptoms including flank pain An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 2 is TBX18 (T-Box Transcription Factor 18), and among its related pathways/superpathways are Genes controlling nephrogenesis and Development of ureteric collection system. The drugs Pharmaceutical Solutions and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and appendix, and related phenotypes are renal insufficiency and back pain

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 A rare lethal form of multicystic dysplastic kidney (MCDK), 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.

Disease Ontology 11 Cakut2: A CAKUT that has material basis in heterozygous mutation in the TBX18 gene on chromosome 6q14.

Ureteropelvic junction obstruction: 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 Congenital Anomalies of Kidney and Urinary Tract 3

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 290)
# Related Disease Score Top Affiliating Genes
1 urinary tract infection 31.0 UPK3A UMOD REN LCN2 HAVCR1
2 hydronephrosis 30.7 UPK3A TBX18 REN PAX2 LCN2 HAVCR1
3 multicystic dysplastic kidney 30.7 REN PAX2 AGTR2
4 pyelonephritis 30.6 UMOD LCN2 AQP2
5 acute kidney failure 30.5 UMOD REN LCN2 HAVCR1
6 anuria 30.5 REN LCN2 HAVCR1
7 wilms tumor 1 30.4 TBX18 REN PAX2 EYA1
8 ureterocele 30.4 ROBO2 PAX2
9 pyuria 30.3 UPK3A LCN2 HAVCR1
10 kidney hypertrophy 30.3 REN HAVCR1
11 renal hypoplasia 30.2 SIX5 ROBO2 PAX2 EYA1
12 obstructive nephropathy 30.1 REN LCN2 HAVCR1 AQP2 AGTR2
13 anus, imperforate 30.1 FREM2 FRAS1 BMP4
14 urinary tract obstruction 30.1 UPK3A UMOD REN PAX2 LCN2 HAVCR1
15 pyelitis 30.0 UMOD REN LCN2 HAVCR1
16 oligohydramnios 30.0 REN PAX2 FREM2 FRAS1
17 cystic kidney disease 29.9 UMOD REN PAX2 LCN2 HAVCR1 AQP2
18 diaphragmatic hernia, congenital 29.8 ROBO2 FREM2 FRAS1 BMP4
19 renal hypodysplasia/aplasia 3 29.6 UPK3A FREM2 FRAS1 DSTYK BMP4
20 autosomal dominant polycystic kidney disease 29.4 UMOD REN PAX2 LCN2 HAVCR1 AQP2
21 polycystic kidney disease 29.4 UMOD REN PAX2 LCN2 HAVCR1 AQP2
22 kidney disease 29.4 UMOD REN PAX2 LCN2 EYA1 AQP2
23 chronic kidney disease 29.1 UMOD TBX18 REN PAX2 LCN2 DSTYK
24 cakut 28.8 UPK3A UMOD TBX18 SIX5 ROBO2 REN
25 renal hypodysplasia/aplasia 1 28.6 UPK3A SIX5 ROBO2 PAX2 FREM2 FRAS1
26 vesicoureteral reflux 28.3 UPK3A UMOD TBX18 SIX5 ROBO2 REN
27 bilateral multicystic dysplastic kidney 11.4
28 hand-foot-genital syndrome 11.3
29 congenital anomalies of kidney and urinary tract 1 11.3
30 nephrolithiasis, calcium oxalate 10.9
31 leukemia, acute lymphoblastic 10.8
32 leukemia, acute myeloid 10.7
33 acute myeloid leukemia with recurrent genetic anomaly 10.7
34 ureteral obstruction 10.7
35 nephrolithiasis 10.7
36 leukemia 10.6
37 myeloma, multiple 10.6
38 myeloid leukemia 10.6
39 urolithiasis 10.6
40 childhood acute lymphocytic leukemia 10.5
41 renal dysplasia 10.5
42 leukemia, acute lymphoblastic 3 10.5
43 b-lymphoblastic leukemia/lymphoma 10.5
44 leukemia, chronic lymphocytic 10.5
45 ileus 10.5
46 skin tag 10.5
47 muscle hypertrophy 10.4
48 wilms tumor 5 10.4
49 renal fibrosis 10.4
50 49, xxxxy syndrome 10.4

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

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

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 30 Very rare (1%) HP:0000083
2 back pain 30 Very rare (1%) HP:0003418
3 hydronephrosis 30 Very rare (1%) HP:0000126
4 renal hypoplasia 30 Very rare (1%) HP:0000089
5 ureteropelvic junction obstruction 30 Very rare (1%) HP:0000074
6 congenital megaureter 30 Very rare (1%) HP:0008676
7 renal dysplasia 30 Very rare (1%) HP:0000110
8 hyperechogenic kidneys 30 Very rare (1%) HP:0004719
9 flank pain 30 Very rare (1%) HP:0030157

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Kidneys:
hydronephrosis
renal dysplasia
hypoplastic kidneys
renal asymmetry
pelviectasis
more
Genitourinary:
flank pain

Genitourinary Bladder:
ureteropelvic junction obstruction

Genitourinary Ureters:
megaureter

Clinical features from OMIM®:

143400 (Updated 08-Dec-2022)

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.18 AGTR2 AQP2 BMP4 EYA1 FRAS1 FREM2
2 growth/size/body region MP:0005378 10.07 AGTR2 AQP2 BMP4 DTX4 EYA1 FRAS1
3 cardiovascular system MP:0005385 9.93 AGTR2 BMP4 DTX4 EYA1 FRAS1 FREM2
4 muscle MP:0005369 9.92 AGTR2 BMP4 EYA1 FREM2 REN ROBO2
5 respiratory system MP:0005388 9.61 BMP4 DTX4 EYA1 FRAS1 FREM2 HAVCR1
6 mortality/aging MP:0010768 9.44 AGTR2 AQP2 BMP4 DTX4 EYA1 FRAS1

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1
2
Lamivudine Approved, Investigational 134678-17-4 60825
3
Ibuprofen Approved 15687-27-1 3672
4
Ropivacaine Approved 84057-95-4 71273 175805
5 Analgesics
6 Antirheumatic Agents
7 Cyclooxygenase Inhibitors
8 Anti-Inflammatory Agents, Non-Steroidal
9 Analgesics, Non-Narcotic
10 Anti-Inflammatory Agents
11 Anesthetics, Local
12 Anesthetics

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Renal Anhydramnios Fetal Therapy (RAFT) Trial Recruiting NCT03101891 Phase 1 Isotonic fluid
2 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance in Children With Scintigraphically Prooved Obstruction. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431
3 Using Buccal Mucosal Graft as an Augmention Graft for Complex Cases of Iatrogenic Pelviureteric Junction Obstruction and Long Segment Ureteric Stricture Disease. Unknown status NCT04503330
4 Determination of the "Tissue Transit Time" (TTT) in the MAG3-Tc99 Diuretic Renogram for Risk Stratification of Infants With Ureteropelvic Junction Obstruction - a Multicentric Prospective Observational Study Completed NCT03311256
5 Dismembered Pyeloplasty With and Without After Coming Stent in Neonatal Ureteropelvic Junction Obstruction Completed NCT02138877
6 Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population Completed NCT02140970 Ibuprofen;Placebo
7 Diagnostic Relevance of Laser Confocal Microscopy During Reno-ureteroscopy in the Context of the Screening and Follow-up of Upper Urinary Tract Tumors Completed NCT02276924
8 Pediatric Robotic Versus Open Pyeloplasty: A Pilot Randomized Control Study Recruiting NCT04884945
9 Cortical Transit Time on Diuretic Renogram as an Early Marker of Significant Obstruction in Antenatally Detected Uretero-pelvic Junction Syndrome Recruiting NCT02812212
10 Prospective Randomized Trial of Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633
11 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine for the Management of Pain After Surgical Correction of Ureteropelvic Junction Stenosis Terminated NCT00930046
12 Comparison of Dynamic Contrast Enhanced CT and Diuretic Renogram in The Evaluation of Ureteropelvic Junction Obstruction Withdrawn NCT00199472
13 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Withdrawn NCT01711996

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

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 Congenital Anomalies of Kidney and Urinary Tract 2 28 TBX18

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 2

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

MalaCards : Kidney, Smooth Muscle, Appendix, Neutrophil, Cortex, Spinal Cord, Testis

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 2631)
# Title Authors PMID Year
1
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 62 57 5
26235987 2015
2
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. 62 57
9598309 1998
3
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. 62 57
8954795 1996
4
Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia. 62 57
9067426 1996
5
Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p. 62 57
1634233 1992
6
HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. 62 57
2595723 1989
7
Familial hydronephrosis unlinked to the HLA complex. 57
9128928 1997
8
Further evidence of genetic heterogeneity in hereditary hydronephrosis. 57
9147880 1996
9
Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis? 57
7856668 1994
10
Hereditary hydronephrosis and the short arm of chromosome 6. 57
8357406 1993
11
Familial hydronephrosis. 57
4726037 1973
12
Familial urinary tract anomalies. 57
5467948 1970
13
Unilateral hereditary hydronephrosis: a report of four cases in three consecutive generations. 57
14451767 1962
14
Familial hydronephrosis. 57
13230561 1955
15
Hereditary unilateral hydronephrosis. 57
13208046 1954
16
Hydronephrosis due to aberrant vessels; remarkable familial incidence with report of cases. 57
18895257 1948
17
Congenital Bilateral Megalo-ureters with Hydronephrosis: A Remarkable Family History. 57
19993137 1945
18
Pyeloplasty with the Kangduo Surgical Robot vs the da Vinci Si Robotic System: Preliminary Results. 62
35864812 2022
19
Giant neglected hydronephrosis in an adult diagnosed after a blunt trauma: A case report. 62
36164378 2022
20
Role of urinary Neutrophil Gelatinase-Associated Lipocalin (NGAL), Monocyte Chemoattractant Protein-1(MCP-1), and Interleukin-6(IL-6) as biomarkers in pediatric patients with hydronephrosis. 62
36057907 2022
21
Multicenter comparative study of open, laparoscopic, and robotic pyeloplasty in the pediatric population for the treatment of ureteropelvic junction obstruction (UPJO). 62
36083265 2022
22
Rare perinephric myxoid pseudotumor of fat causing ureteropelvic junction obstruction: a case report. 62
36378461 2022
23
Comparing the Effects of 2D and 3D Imaging Systems on Laparoscopic Pyeloplasty Outcomes in the Treatment of Adult Ureteropelvic Junction Obstruction. 62
35349367 2022
24
Robotic-assisted laparoscopic pyeloplasty (RALP), for ureteropelvic junction obstruction (UPJO), is an alternative to open pyeloplasty in the pediatric population. 62
34859365 2022
25
Comparing accuracy of urinary biomarkers in differentiation of ureteropelvic junction obstruction from nonobstructive dilatation in children. 62
35237864 2022
26
Laparoscopic and robot-assisted ureterocalicostomy for treatment of primary and recurrent pelvi-ureteric junction obstruction in children: a multicenter comparative study with laparoscopic and robot-assisted Anderson-Hynes pyeloplasty. 62
35861906 2022
27
Latitudes and attitudes: A multinational study of laparoscopic pyeloplasty in children. 62
36336623 2022
28
Fluoroscopy-guided percutaneous antegrade approach for ureteral stent placement in children: a single-center experience. 62
34259018 2022
29
Do ureteral stent diameter and length or patient demographics play a role in stent encrustation? 62
35426789 2022
30
Laparoscopic correction of hydronephrosis caused by left paraduodenal hernia in a child with cryptorchism: A case report. 62
36186215 2022
31
Laparoscopic versus robotic-assisted laparoscopic pyeloplasty in infants and young children. 62
36192267 2022
32
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. 62
34473308 2022
33
Laparoscopic Versus Robot-Assisted Pyeloplasty in Adults-A Single-Center Experience. 62
36294723 2022
34
Pelviureteric junction obstruction of the ipsilateral kidney caused by hydronephrosis secondary to crossed fused renal ectopia. 62
36090939 2022
35
Contemporary diagnosis and management of pelvi-ureteric junction obstruction. 62
35044033 2022
36
A systematic review and metaanalysis of open, conventional laparoscopic and robot-assisted laparoscopic techniques for re-do pyeloplasty for recurrent uretero pelvic junction obstruction in children. 62
36117037 2022
37
A Comparative Analysis of Robot-Assisted Laparoscopic Pyeloplasty in Pediatric and Adult Patients: Does Age Matter? 62
36233520 2022
38
Assistant port is unnecessary for robotic-assisted laparoscopic pyeloplasty in children: a comparative cohort study. 62
35849174 2022
39
The sequence of intervention determines the risk of early postoperative acute kidney injury in infants with bilateral ureteropelvic junction obstruction. 62
36050246 2022
40
Early detection of ureteropelvic junction obstruction in neonates with prenatal diagnosis of renal pelvis dilatation using 1H NMR urinary metabolomics. 62
35927301 2022
41
A systematic review of underlying genetic factors associated with ureteropelvic junction obstruction in stenotic human tissue. 62
35987676 2022
42
[Laparoscopic pyeloplasty combined with ultrasonic lithotripsy via nephroscope for treatment of ureteropelvic junction obstruction with renal calculi]. 62
35950402 2022
43
Perioperative management of surgical correction of ureteropelvic junction obstruction in children: A comparison of robotic-assisted versus conventional minimally invasive techniques. 62
35476877 2022
44
Factors predicting improvement of differential renal function after pyeloplasty in children of ureteropelvic junction obstruction. 62
35842393 2022
45
Comparison of Secondary and Primary Minimally Invasive Pyeloplasty in the Treatment of Ureteropelvic Junction Obstruction: A Systematic Review and Meta-Analysis. 62
35319279 2022
46
The Use of Neutrophil Gelatinase-Associated Lipocalin (NGAL) as a Diagnostic and Prognostic Biomarker in Urinary Tract Obstruction: a Systematic Review. 62
35678987 2022
47
Ureteropelvic junction obstructions: Is side a prognostic factor? 62
35975387 2022
48
Utilidad del Renograma Diurético tras la Pieloplastia en la Población Pediátrica. ¿Es Necesario de Rutina? 62
36138502 2022
49
Single-port robot-assisted laparoscopic pyeloplasty in an infant: A video case report with 9 months follow up. 62
35995661 2022
50
Randomized controlled trial of NSAID prior to cystoscopic ureteral stent removal in a pediatric population. 62
35987678 2022

Variations for Congenital Anomalies of Kidney and Urinary Tract 2

ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX18 NM_001080508.3(TBX18):c.1010del (p.Gly337fs) DEL Pathogenic
208527 rs869320679 GRCh37: 6:85448304-85448304
GRCh38: 6:84738586-84738586
2 TBX18 NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr) SNV Pathogenic
208528 rs760905589 GRCh37: 6:85446657-85446657
GRCh38: 6:84736939-84736939
3 TBX18 NM_001080508.3(TBX18):c.487A>G (p.Lys163Glu) SNV Pathogenic
208529 rs797045022 GRCh37: 6:85472272-85472272
GRCh38: 6:84762554-84762554
4 TBX18 NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs) INSERT Pathogenic
1177415 GRCh37: 6:85466494-85466495
GRCh38: 6:84756776-84756777
5 TBX18 NM_001080508.3(TBX18):c.662G>A (p.Arg221His) SNV Uncertain Significance
1704362 GRCh37: 6:85466525-85466525
GRCh38: 6:84756807-84756807
6 TBX18 NM_001080508.3(TBX18):c.272A>C (p.Asp91Ala) SNV Likely Benign
1065573 GRCh37: 6:85473628-85473628
GRCh38: 6:84763910-84763910
7 TBX18 NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg) SNV Benign
802247 rs172562 GRCh37: 6:85473758-85473758
GRCh38: 6:84764040-84764040

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

73
# Symbol AA change Variation ID SNP ID
1 TBX18 p.Lys163Glu VAR_074629 rs797045022
2 TBX18 p.His524Tyr VAR_074631 rs760905589

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 10.98 ROBO2 PAX2 EYA1
2 10.91 PAX2 FRAS1 EYA1 BMP4
3 10.25 ROBO2 PAX2 EYA1 BMP4 AGTR2

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 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of blood pressure GO:0008217 10.04 UMOD REN AGTR2
2 positive regulation of epithelial cell proliferation GO:0050679 10.03 PAX2 EYA1 BMP4
3 anatomical structure development GO:0048856 9.95 PAX2 EYA1 BMP4
4 branching involved in ureteric bud morphogenesis GO:0001658 9.95 PAX2 EYA1 BMP4
5 ureteric bud development GO:0001657 9.85 ROBO2 EYA1 BMP4
6 sinoatrial node development GO:0003163 9.84 TBX18 BMP4
7 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.83 BMP4 PAX2
8 mesodermal cell fate specification GO:0007501 9.81 EYA1 PAX2
9 kidney development GO:0001822 9.81 BMP4 FREM2 REN UMOD UPK3A
10 ureter development GO:0072189 9.8 TBX18 PAX2
11 metanephros development GO:0001656 9.8 ROBO2 EYA1 BMP4
12 cochlea morphogenesis GO:0090103 9.8 TBX18 PAX2 EYA1
13 metanephric distal convoluted tubule development GO:0072221 9.73 PAX2 UMOD
14 positive regulation of metanephric glomerulus development GO:0072300 9.67 PAX2 AGTR2
15 regulation of metanephros size GO:0035566 9.56 PAX2 AGTR2
16 mesonephros development GO:0001823 9.43 REN PAX2 BMP4
17 metanephric collecting duct development GO:0072205 9.1 PAX2 BMP4 AQP2

Sources for Congenital Anomalies of Kidney and Urinary Tract 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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