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 57 72
Multicystic Renal Dysplasia, Bilateral 57 20 72 70
Ureteropelvic Junction Obstruction 57 12 72 15
Pelviureteric Junction Obstruction 57 72 13
Hydronephrosis Due to Pujo 57 20 72
Cakut2 57 12 72
Pujo 57 20 72
Congenital Anomalies of Kidney and Urinary Tract Type 2 29 6
Upjo 57 72
Mcrd 57 72
Kidney and Urinary Tract, Anomalies, Congenital, Type 2 39
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 70
Pelvi-Ureteric Junction Obstruction 20
Mrd 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 143400
OMIM Phenotypic Series 57 PS610805
MeSH 44 D014564
UMLS 70 C0521619 C1840451

Summaries for Congenital Anomalies of Kidney and Urinary Tract 2

GARD : 20 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.

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 urinary tract infection, 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 Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Ibuprofen and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and liver, 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® : 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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 209)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 1 32.6 UPK3A DSTYK
2 urinary tract infection 31.2 UMOD TGFB1 LCN2
3 multicystic dysplastic kidney 30.8 REN PAX2 AGTR2
4 ureteral obstruction 30.6 TGFB1 AQP2 AGTR2
5 acute cystitis 30.6 UPK3A UMOD REN LCN2 HAVCR1
6 cystic kidney disease 30.5 UMOD PAX2 AQP2
7 obstructive nephropathy 30.4 TGFB1 REN LCN2 HAVCR1 AGTR2
8 acute kidney failure 30.4 UMOD REN LCN2 HAVCR1
9 pyuria 30.3 UPK3A LCN2 HAVCR1
10 anuria 30.3 REN LCN2 HAVCR1
11 hydronephrosis 30.2 UPK3A TSHZ3 TGFB1 TBX18 REN PAX2
12 familial vesicoureteral reflux 30.2 TGFB1 ROBO2 AGTR2
13 renal hypoplasia 30.1 ROBO2 PAX2 EYA1
14 pyelitis 29.8 UPK3A UMOD REN LCN2 HAVCR1
15 autosomal dominant polycystic kidney disease 29.7 TGFB1 REN LCN2 AQP2
16 urinary tract obstruction 29.7 UPK3A UMOD TGFB1 REN PAX2 LCN2
17 cakut 29.6 UPK3A UMOD TBX18 SIX5 ROBO2 REN
18 end stage renal disease 29.5 UMOD TGFB1 REN PAX2 HAVCR1
19 polycystic kidney disease 29.4 UMOD TGFB1 REN LCN2 AQP2
20 wilms tumor 1 29.2 TBX18 REN PAX2 EYA1
21 kidney disease 28.7 UMOD TGFB1 TBX18 REN PAX2 LCN2
22 chronic kidney disease 28.7 UMOD TGFB1 TBX18 REN LCN2 HAVCR1
23 vesicoureteral reflux 1 28.4 UPK3A UMOD TGFB1 SIX5 ROBO2 REN
24 renal hypodysplasia/aplasia 1 28.0 UPK3A UMOD TBX18 SIX5 ROBO2 REN
25 bilateral multicystic dysplastic kidney 11.4
26 hand-foot-genital syndrome 11.3
27 horseshoe kidney 10.8
28 leukemia, acute lymphoblastic 10.7
29 leukemia 10.7
30 leukemia, acute myeloid 10.6
31 pyelonephritis 10.6
32 nephrolithiasis 10.6
33 urolithiasis 10.6
34 myeloid leukemia 10.5
35 myeloma, multiple 10.5
36 b-lymphoblastic leukemia/lymphoma 10.5
37 ileus 10.4
38 nephrolithiasis, calcium oxalate 10.4
39 muscle hypertrophy 10.4
40 leukemia, chronic lymphocytic 10.4
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
42 47,xyy 10.4
43 adult acute lymphocytic leukemia 10.3
44 precursor t-cell acute lymphoblastic leukemia 10.3
45 renal fibrosis 10.3
46 ptosis 10.3
47 familial episodic pain syndrome 10.3
48 renal dysplasia 10.3
49 childhood acute lymphocytic 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®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 cardiovascular system MP:0005385 9.96 AGTR2 BMP4 EYA1 LCN2 PAX2 REN
2 renal/urinary system MP:0005367 9.77 AGTR2 AQP2 BMP4 EYA1 LCN2 PAX2
3 muscle MP:0005369 9.76 AGTR2 BMP4 EYA1 REN ROBO2 SIX5
4 reproductive system MP:0005389 9.28 AQP2 BMP4 EYA1 LCN2 PAX2 REN

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

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Cortical Transit Time on Diuretic Renogram as an Early Marker of Significant Obstruction in Antenatally Detected Uretero-pelvic Junction Syndrome Unknown status NCT02812212
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 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
4 Dismembered Pyeloplasty With and Without After Coming Stent in Neonatal Ureteropelvic Junction Obstruction Completed NCT02138877
5 Laparoscopic Pyeloplasty: A Registry and Database Completed NCT00169650
6 Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population Recruiting NCT02140970 Ibuprofen;Placebo
7 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 Active, not recruiting NCT03311256
8 Using Buccal Mucosal Graft as an Augmention Graft for Complex Cases of Iatrogenic Pelviureteric Junction Obstruction and Long Segment Ureteric Stricture Disease. Not yet recruiting NCT04503330
9 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine for the Management of Pain After Surgical Correction of Ureteropelvic Junction Stenosis Terminated NCT00930046
10 Prospective Randomized Trial of Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633
11 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, Liver, Breast, Testis, Bone Marrow, Bone

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 1933)
# Title Authors PMID Year
1
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. 61 6 57
26235987 2015
2
Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia. 57
9598309 1998
3
Familial hydronephrosis unlinked to the HLA complex. 57
9128928 1997
4
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. 57
8954795 1996
5
Further evidence of genetic heterogeneity in hereditary hydronephrosis. 57
9147880 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. 57
9067426 1996
7
Renal agenesis, multicystic dysplasia, and uretero-pelvic junction obstruction--a common pathogenesis? 57
7856668 1994
8
Hereditary hydronephrosis and the short arm of chromosome 6. 57
8357406 1993
9
Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p. 57
1634233 1992
10
HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction. 57
2595723 1989
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
Functional outcomes after robot-assisted pyeloplasty for ureteropelvic junction obstruction: A bi-centre experience. 61
33175444 2021
19
Ureteropelvic junction obstruction: diagnosis and management. 61
33470672 2021
20
Combination of Robotic Pyeloplasty and Percutaneous Renal Surgery for Simultaneous Treatment of Ureteropelvic Junction Obstruction and Calyx Stones. 61
33691328 2021
21
Comparing predictive values of carbohydrate antigen 19-9, neutrophil gelatinase-associated lipocalin, and kidney injury molecule-1 in 161 patients with ureteropelvic junction obstruction. 61
32936324 2021
22
Quality of Life of Patients After Laparoscopic Pyeloplasty Due to Ureteropelvic Junction Obstruction: A Long-Term Observation. 61
33713327 2021
23
Minimally invasive vascular hitch to treat pediatric extrinsic ureteropelvic junction obstruction by crossing polar vessels: A systematic review and meta-analysis. 61
33775572 2021
24
Physician perspectives on discussions with parents of infants with suspected ureteropelvic junction obstruction. 61
32467035 2021
25
Evolving trends in peri-operative management of pediatric ureteropelvic junction obstruction: working towards quicker recovery and day surgery pyeloplasty. 61
33660089 2021
26
Fetal Urinoma Due to Circulatory Disorders in an Umbilical Artery: Case Report. 61
33749381 2021
27
Giant neonatal hydronephrosis of the upper pole of a complete duplicated renal system. 61
33715935 2021
28
Congenital Anomalies of the Upper Urinary Tract: A Comprehensive Review. 61
33513074 2021
29
Retrospective Evaluation of the Clinical Values of Minimally Invasive Marsupialization of Symptomatic Giant Renal Cysts. 61
33074753 2021
30
Robotic assisted pyeloplasty with a new robotic system KD-SR-01: a prospective, single-center, single-arm clinical study. 61
33725392 2021
31
Dietl crisis: Presentation and imaging findings in a 7-year-old boy. 61
33384756 2021
32
Exploration of postnatal integrated management for prenatal renal and urinary tract anomalies in China. 61
30983458 2021
33
Short-term outcomes of pyeloplasty vs. nephrectomy in adult patients with ureteropelvic junction obstruction and differential renal function ≤15. 61
33525931 2021
34
Factors affecting the effectiveness and success of retrograde holmium laser endopyelotomy as the primary treatment of ureteropelvic junction obstruction in adults. 61
32048558 2021
35
Modified Laparoscopic and Robotic Flap Pyeloplasty for Recurrent Ureteropelvic Junction Obstruction with a Long Proximal Ureteral Stricture: The "Wishbone" Anastomosis and the "Ureteral Plate" Technique. 61
33567431 2021
36
PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability. 61
33623695 2021
37
Laparoscopic pyeloplasty as an alternative to nephrectomy in adults with poorly functioning kidneys due to ureteropelvic junction obstruction. 61
32862329 2021
38
Evaluation of the results of laser endopyelotomy with two different technique in ureteropelvic junction obstruction. 61
33583746 2021
39
Combined treatment of ureteropelvic junction obstruction and renal calculi with robot-assisted laparoscopic pyeloplasty and laser lithotripsy in children: Case report and non-systematic review of the literature. 61
33626232 2021
40
Real-time navigation by three-dimensional virtual reconstruction models in robot-assisted laparoscopic pyeloplasty for ureteropelvic junction obstruction: our initial experience. 61
33532302 2021
41
Early Robotic-Assisted Laparoscopic Pyeloplasty for Infants Under 3 Months With Severe Ureteropelvic Junction Obstruction. 61
33777859 2021
42
Caliceal diverticulum with ureteropelvic junction obstruction in a dysplastic kidney: a pediatric case report. 61
33417184 2021
43
Functional, morphological and operative outcome after pyeloplasty in adult patients: Laparoscopic versus open. 61
33413037 2021
44
Evaluation of educational value of YouTube videos addressing robotic pyeloplasty in children. 61
33558173 2021
45
A Unique Case of Incomplete Bifid Ureter and Associated Arterial Variations. 61
33489410 2021
46
Minimal invasive approach for lower pole uretero-pelvic junction obstruction (UPJO) in duplication anomaly: A multi-institutional study. 61
33485612 2021
47
Robotic dismembered pyeloplasty surgical simulation using a 3D-printed silicone-based model: development, face validation and crowdsourced learning outcomes assessment. 61
32240498 2020
48
Management of antenatal hydronephrosis. 61
31811536 2020
49
Surgical outcomes are equivalent after pure laparoscopic and robotic-assisted pyeloplasty for ureteropelvic junction obstruction. 61
33060019 2020
50
Pyeloplasty is a safe and effective surgical approach for low functioning kidneys with ureteropelvic junction obstruction. 61
33526368 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 Position
1 TBX18 NM_001080508.3(TBX18):c.1010del (p.Gly337fs) Deletion 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.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:

72
# 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 11.26 TGFB1 PAX2 BMP4
2
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 apical plasma membrane GO:0016324 8.92 UPK3A UMOD DSTYK AQP2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.09 TSHZ3 TBX18 SIX5 ROBO2 PAX2 EYA1
2 negative regulation of transcription, DNA-templated GO:0045892 10.01 TSHZ3 TGFB1 SIX5 PAX2 BMP4
3 response to drug GO:0042493 9.92 UMOD TGFB1 REN LCN2
4 neural tube closure GO:0001843 9.77 TGFB1 PAX2 BMP4
5 branching involved in ureteric bud morphogenesis GO:0001658 9.69 PAX2 EYA1 BMP4
6 response to immobilization stress GO:0035902 9.65 TGFB1 REN
7 negative regulation of myoblast differentiation GO:0045662 9.65 TGFB1 BMP4
8 cellular sodium ion homeostasis GO:0006883 9.65 UMOD AGTR2
9 metanephros development GO:0001656 9.65 ROBO2 EYA1 BMP4
10 water transport GO:0006833 9.64 UPK3A AQP2
11 sodium ion homeostasis GO:0055078 9.64 UPK3A UMOD
12 smooth muscle cell differentiation GO:0051145 9.63 TBX18 BMP4
13 positive regulation of SMAD protein signal transduction GO:0060391 9.63 TGFB1 BMP4
14 aortic valve morphogenesis GO:0003180 9.63 TGFB1 ROBO2 BMP4
15 pulmonary valve morphogenesis GO:0003184 9.62 ROBO2 BMP4
16 positive regulation of epithelial cell proliferation GO:0050679 9.62 TGFB1 PAX2 EYA1 BMP4
17 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.61 TGFB1 BMP4
18 cochlea morphogenesis GO:0090103 9.61 TBX18 PAX2 EYA1
19 ureter development GO:0072189 9.59 TBX18 PAX2
20 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.58 PAX2 BMP4
21 common-partner SMAD protein phosphorylation GO:0007182 9.58 TGFB1 BMP4
22 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.58 TGFB1 PAX2 AGTR2
23 regulation of cartilage development GO:0061035 9.57 TGFB1 BMP4
24 mesodermal cell fate specification GO:0007501 9.56 PAX2 EYA1
25 metanephric distal convoluted tubule development GO:0072221 9.54 UMOD PAX2
26 mesonephros development GO:0001823 9.54 REN PAX2 BMP4
27 renin-angiotensin regulation of aldosterone production GO:0002018 9.52 REN AGTR2
28 regulation of pri-miRNA transcription by RNA polymerase II GO:1902893 9.49 TGFB1 BMP4
29 metanephric collecting duct development GO:0072205 9.43 PAX2 BMP4 AQP2
30 kidney development GO:0001822 9.35 UPK3A UMOD REN BMP4 AGTR2
31 regulation of protein import into nucleus GO:0042306 9.33 TGFB1 BMP4 AGTR2
32 ureteric bud development GO:0001657 8.92 TGFB1 ROBO2 EYA1 BMP4

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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