CAKUT2
MCID: CNG499
MIFTS: 52

Congenital Anomalies of Kidney and Urinary Tract 2 (CAKUT2)

Categories: 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 56 73
Multicystic Renal Dysplasia, Bilateral 56 52 73 71
Ureteropelvic Junction Obstruction 56 12 73 15
Pelviureteric Junction Obstruction 56 73 13
Hydronephrosis Due to Pujo 56 52 73
Cakut2 56 12 73
Pujo 56 52 73
Congenital Anomalies of Kidney and Urinary Tract Type 2 29 6
Upjo 56 73
Mcrd 56 73
Kidney and Urinary Tract, Anomalies, Congenital, Type 2 39
Congenital Anomalies of the Kidney and Urinary Tract 2 12
Multicystic Renal Dysplasia, Bilateral; Mcrd 56
Ureteropelvic Junction Obstruction; Upjo 56
Pelviureteric Junction Obstruction; Pujo 56
Obstruction of Pelviureteric Junction 71
Pelvi-Ureteric Junction Obstruction 52
Mrd 52

Characteristics:

OMIM:

56
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:

31
congenital anomalies of kidney and urinary tract 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080207 DOID:0111145
OMIM 56 143400
OMIM Phenotypic Series 56 PS610805
MeSH 43 D014564
UMLS 71 C0521619 C1840451

Summaries for Congenital Anomalies of Kidney and Urinary Tract 2

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97364 Definition Bilateral 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. Epidemiology The prevalence and incidence of bilateral MCDK are unknown. Clinical description Bilateral 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. Etiology MCDK 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 1?, 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 congenital anomalies of kidney and urinary tract 1 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 is Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Lamivudine and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and bone, and related phenotypes are renal insufficiency and nephrotic syndrome

Disease Ontology : 12 A CAKUT that has material basis in heterozygous mutation in the TBX18 gene on chromosome 6q14.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 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 198)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 1 33.1 UPK3A DSTYK
2 hydronephrosis 30.8 UPK3A TGFB1 TBX18 REN PLEKHF1 PAX2
3 acute cystitis 30.8 UPK3A UMOD REN LCN2
4 multicystic dysplastic kidney 30.7 REN PAX2 AGTR2
5 pyelonephritis 30.6 UMOD TGFB1 LCN2
6 cakut 30.5 UPK3A UMOD TBX18 ROBO2 REN PAX2
7 anuria 30.5 REN LCN2 HAVCR1
8 pyuria 30.4 UPK3A LCN2 HAVCR1
9 acute kidney failure 30.2 UMOD REN LCN2 HAVCR1
10 obstructive nephropathy 30.1 TGFB1 REN LCN2 HAVCR1 AGTR2
11 cystic kidney disease 30.1 UMOD REN PAX2 HAVCR1
12 pyelitis 30.0 UMOD REN LCN2
13 end stage renal disease 30.0 UMOD REN PAX2
14 familial vesicoureteral reflux 29.7 TGFB1 ROBO2 AGTR2
15 urinary tract obstruction 29.6 UPK3A UMOD TGFB1 REN PAX2 LCN2
16 renal hypodysplasia/aplasia 1 29.3 UPK3A ROBO2 PAX2 EYA1 DSTYK AGTR2
17 chronic kidney disease 28.7 UMOD TGFB1 TBX18 REN LCN2 HAVCR1
18 kidney disease 28.4 UMOD TGFB1 TBX18 REN PAX2 LCN2
19 ureteral disease 28.4 UPK3A TGFB1 ROBO2 REN PAX2 LCN2
20 vesicoureteral reflux 1 28.0 UPK3A UMOD TGFB1 ROBO2 REN PLEKHF1
21 bilateral multicystic dysplastic kidney 11.7
22 hand-foot-genital syndrome 11.5
23 leukemia, acute lymphoblastic 10.9
24 leukemia, acute myeloid 10.8
25 horseshoe kidney 10.8
26 myeloid leukemia 10.7
27 ureteral obstruction 10.6
28 myeloma, multiple 10.6
29 leukemia, acute lymphoblastic 3 10.6
30 nephrolithiasis 10.6
31 leukemia, chronic lymphocytic 10.6
32 urolithiasis 10.5
33 precursor t-cell acute lymphoblastic leukemia 10.5
34 adult acute lymphocytic leukemia 10.5
35 ileus 10.4
36 childhood acute lymphocytic leukemia 10.4
37 mantle cell lymphoma 10.4
38 muscle hypertrophy 10.4
39 follicular lymphoma 10.4
40 leukemia 10.4
41 nephrolithiasis, calcium oxalate 10.3
42 lymphoma 10.3
43 renal hypodysplasia/aplasia 3 10.3 UPK3A DSTYK
44 wilms tumor 5 10.3
45 renal fibrosis 10.3
46 ptosis 10.3
47 familial episodic pain syndrome 10.3
48 47,xyy 10.3
49 childhood acute myeloid leukemia 10.3
50 acute leukemia 10.3

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 31 occasional (7.5%) HP:0000083
2 nephrotic syndrome 31 HP:0000100
3 hydronephrosis 31 HP:0000126
4 renal hypoplasia 31 HP:0000089
5 multicystic kidney dysplasia 31 HP:0000003
6 ureteropelvic junction obstruction 31 HP:0000074
7 congenital megaureter 31 HP:0008676
8 hydroureter 31 HP:0000072
9 renal dysplasia 31 HP:0000110
10 cystic renal dysplasia 31 HP:0000800
11 flank pain 31 HP:0030157
12 renal sarcoma 31 HP:0008663

Symptoms via clinical synopsis from OMIM:

56
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

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 cardiovascular system MP:0005385 9.81 AGTR2 EYA1 LCN2 PAX2 REN ROBO2
2 cellular MP:0005384 9.65 AGTR2 EYA1 LCN2 LPP PAX2 PLEKHF1
3 renal/urinary system MP:0005367 9.32 AGTR2 EYA1 LCN2 PAX2 REN ROBO2

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 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamivudine Approved, Investigational 134678-17-4 60825
2
Ibuprofen Approved 15687-27-1 3672
3
Ropivacaine Approved 84057-95-4 71273 175805
4
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
5 Anti-Bacterial Agents
6 Antibiotics, Antitubercular
7 Anti-Infective Agents
8 Micronutrients
9 Trace Elements
10 Vitamins
11 Hormones
12 Nutrients
13 Calcium, Dietary
14 Calciferol
15 Analgesics, Non-Narcotic
16 Analgesics
17 Cyclooxygenase Inhibitors
18 Antirheumatic Agents
19 Anti-Inflammatory Agents
20 Anti-Inflammatory Agents, Non-Steroidal
21 Anesthetics
22 Anesthetics, Local
23
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
2 Cortical Transit Time on Diuretic Renogram as an Early Marker of Significant Obstruction in Antenatally Detected Uretero-pelvic Junction Syndrome Unknown status NCT02812212
3 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
4 The Influence of Super-Mini Percutaneous Nephrolithotomy on Renal Pelvic Pressure In Vivo Unknown status NCT02760134
5 Laparoscopic Pyeloplasty: A Registry and Database Completed NCT00169650
6 Clinical Significance of Supranormal Differential Renal Function in the Recovery of Unilateral Hydronephrosis After Surgery: Long-term Results Completed NCT01839006
7 Dismembered Pyeloplasty With and Without After Coming Stent in Neonatal Ureteropelvic Junction Obstruction Completed NCT02138877
8 Prospective Pediatric Pyeloplasty Robotic Surgical Database Completed NCT00882544
9 Internal Ureteral Stent Versus Percutaneous Nephrostomy Tube in Management of Acutely Obstructed Infected Kidney in the Presence Upper Urinary Tract Stones: A Prospective, Randomized Study Completed NCT03498794
10 Evaluation of Calcium and Vitamin D Supplementation for Optimizing Bone Health During Marine Corps Recruit Training Completed NCT02636348
11 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 Recruiting NCT03311256
12 Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population Recruiting NCT02140970 Ibuprofen;Placebo
13 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine for the Management of Pain After Surgical Correction of Ureteropelvic Junction Stenosis Terminated NCT00930046
14 Prospective Randomized Trial of Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633
15 Comparison of Dynamic Contrast Enhanced CT and Diuretic Renogram in The Evaluation of Ureteropelvic Junction Obstruction Withdrawn NCT00199472

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 Type 2 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:

40
Kidney, Smooth Muscle, Bone, Monocytes, Testes, Liver, Breast

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 1865)
# Title Authors PMID Year
1
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 61 6 56
26235987 2015
2
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. 56
9598309 1998
3
Familial hydronephrosis unlinked to the HLA complex. 56
9128928 1997
4
Further evidence of genetic heterogeneity in hereditary hydronephrosis. 56
9147880 1996
5
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. 56
8954795 1996
6
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. 56
9067426 1996
7
Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis? 56
7856668 1994
8
Hereditary hydronephrosis and the short arm of chromosome 6. 56
8357406 1993
9
Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p. 56
1634233 1992
10
HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. 56
2595723 1989
11
Familial hydronephrosis. 56
4726037 1973
12
Familial urinary tract anomalies. 56
5467948 1970
13
Unilateral hereditary hydronephrosis: a report of four cases in three consecutive generations. 56
14451767 1962
14
Familial hydronephrosis. 56
13230561 1955
15
Hereditary unilateral hydronephrosis. 56
13208046 1954
16
Hydronephrosis due to aberrant vessels; remarkable familial incidence with report of cases. 56
18895257 1948
17
Congenital Bilateral Megalo-ureters with Hydronephrosis: A Remarkable Family History. 56
19993137 1945
18
Severe ureteropelvic junction obstruction with massive hydronephrosis causing compression of the inferior vena cava. 61
32477882 2020
19
iTRAQ-based proteomics and in vitro experiments reveals essential roles of ACE and AP-N in the renin-angiotensin system-mediated congenital ureteropelvic junction obstruction. 61
32416091 2020
20
Robot-assisted Pyeloureterostomy in the Treatment of the Lower Pole Ureteropelvic Junction Obstruction in an Incomplete Duplicated System. 61
32561363 2020
21
Serum-Targeted HILIC-MS Metabolomics-Based Analysis in Infants with Ureteropelvic Junction Obstruction. 61
32351114 2020
22
Our experience on management of failed pediatric pyeloplasty. 61
32542506 2020
23
A 7-Year-Old Boy With Recurring Episodes of Abdominal Pain. 61
32544143 2020
24
Primary laparoscopic pyeloplasty in children: A single-center experience of 279 patients and analysis of possible factors affecting complications. 61
32334969 2020
25
Changes in differential renal function after pyeloplasty in infants and children. 61
32146062 2020
26
Robot-assisted laparoscopic pyeloplasty for ureteropelvic junction obstruction with duplex system. 61
32140419 2020
27
Pediatric congenital hydronephrosis (ureteropelvic junction obstruction): Medical management guide. 61
32162424 2020
28
Concomitant management of renal calculi and recurrent ureteropelvic junction obstruction with percutaneous nephrolithotomy and antegrade balloon dilation. 61
32356681 2020
29
The effect of intravenous human adipose-derived stem cells (hADSC) on transforming growth factor β1 (TGF-β1), collagen type 1, and kidney histopathological features in the unilateral ureteropelvic junction obstruction model of wistar rats. 61
32401706 2020
30
Minimally invasive open pyeloplasty in children: Long-term follow-up. 61
32449670 2020
31
Use of double-J ureteric stents post-laparoscopic pyeloplasty to treat ureteropelvic junction obstruction in hydronephrosis for pediatric patients: a single-center experience. 61
32345075 2020
32
The expression of platelet-derived growth factor receptor alpha-positive cells in the stenotic tissue of ureteropelvic junction obstruction in children
. 61
32049626 2020
33
Bilateral aniridia and congenital ureteral valve: Role of genetic testing. 61
32056389 2020
34
Hereditary bilateral ureteropelvic junction obstruction. 61
31984459 2020
35
Utility of ultrasound elastography in postoperative follow-up of children with unilateral ureteropelvic junction obstruction. 61
32549660 2020
36
Physician perspectives on discussions with parents of infants with suspected ureteropelvic junction obstruction. 61
32467035 2020
37
Comparative Proteome Analyses of Ureteropelvic Junction Obstruction and Surrounding Ureteral Tissue. 61
32259813 2020
38
Forniceal Rupture in Neonate Masquerading as a Cystic Renal Mass. 61
32330532 2020
39
Do current scientific reports of hydronephrosis make the grade? 61
32345558 2020
40
Endoscopic-assisted robotic pyelolithotomy: a viable treatment option for complex pediatric nephrolithiasis. 61
31932240 2020
41
Safety and Efficiency of Pyeloplasty in The First Six Weeks of Infants' Life. 61
32309872 2020
42
A systematic review of genitourinary injuries arising from rugby and football. 61
32029358 2020
43
Comparison of open, laparoscopic and robot-assisted pyeloplasty for pelviureteric junction obstruction in adult patients. 61
31222624 2020
44
Robotic dismembered pyeloplasty surgical simulation using a 3D-printed silicone-based model: development, face validation and crowdsourced learning outcomes assessment. 61
32240498 2020
45
Impact of successful pediatric ureteropelvic junction obstruction surgery on urinary HIP/PAP and BD-1 levels. 61
32278658 2020
46
Renal Hemodynamic Changes and Postsurgical Recovery in Children Treated for Ureteropelvic Junction Obstruction. 61
32118861 2020
47
Open Surgery in the Era of Minimally Invasive Surgery: Pyeloplasty via A Mini Flank Incision in the Treatment of Infants with Ureteropelvic Junction Obstruction. 61
32180214 2020
48
Risk Factors and Management Options for the Adult Failed Ureteropelvic Junction Obstruction Repair in the Era of Minimally Invasive and Robotic Approaches: A Comprehensive Literature Review. 61
32024376 2020
49
Experimental Assessment of New Generation of Ureteral Stents: Biodegradable and Antireflux Properties. 61
31931610 2020
50
CT imaging findings of abdominopelvic vascular compression syndromes: what the radiologist needs to know. 61
32185572 2020

Variations for Congenital Anomalies of Kidney and Urinary Tract 2

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX18 NM_001080508.3(TBX18):c.1010del (p.Gly337fs)deletion Pathogenic 208527 rs869320679 6:85448304-85448304 6:84738586-84738586
2 TBX18 NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr)SNV Pathogenic 208528 rs760905589 6:85446657-85446657 6:84736939-84736939
3 TBX18 NM_001080508.3(TBX18):c.487A>G (p.Lys163Glu)SNV Pathogenic 208529 rs797045022 6:85472272-85472272 6:84762554-84762554
4 TBX18 NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg)SNV Benign 802247 6:85473758-85473758 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
Show member pathways
10.7 TGFB1 REN AGTR2

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 2

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.36 UPK3A UMOD TGFB1 STK10 SIGLEC5 ROBO2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.69 UPK3A REN AGTR2
2 positive regulation of epithelial cell proliferation GO:0050679 9.63 TGFB1 PAX2 EYA1
3 aortic valve morphogenesis GO:0003180 9.55 TGFB1 ROBO2
4 cochlea morphogenesis GO:0090103 9.54 PAX2 EYA1
5 response to immobilization stress GO:0035902 9.52 TGFB1 REN
6 mesonephros development GO:0001823 9.49 REN PAX2
7 regulation of protein import into nucleus GO:0042306 9.48 TGFB1 AGTR2
8 ureter development GO:0072189 9.43 TBX18 PAX2
9 ureteric bud development GO:0001657 9.43 TGFB1 ROBO2 EYA1
10 mesodermal cell fate specification GO:0007501 9.4 PAX2 EYA1
11 metanephric distal convoluted tubule development GO:0072221 9.37 UMOD PAX2
12 renin-angiotensin regulation of aldosterone production GO:0002018 9.32 REN AGTR2
13 positive regulation of metanephric glomerulus development GO:0072300 9.16 PAX2 AGTR2
14 regulation of metanephros size GO:0035566 8.96 PAX2 AGTR2
15 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 8.8 TGFB1 PAX2 AGTR2

Sources for Congenital Anomalies of Kidney and Urinary Tract 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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