CAKUT
MCID: CKT002
MIFTS: 42

Cakut (CAKUT)

Categories: Nephrological diseases

Aliases & Classifications for Cakut

MalaCards integrated aliases for Cakut:

Name: Cakut 12 15 73
Congenital Anomalies of Kidney and Urinary Tract 37 29 6
Congenital Anomalies of the Kidney and Urinary Tract 12
Kidney and Urinary Tract, Anomalies, Congenital 40
Renal Hypodysplasia, Nonsyndromic, 1 73
Renal or Urinary Tract Malformation 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0080205
KEGG 37 H01867

Summaries for Cakut

Genetics Home Reference : 25 Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.

MalaCards based summary : Cakut, also known as congenital anomalies of kidney and urinary tract, is related to papillorenal syndrome and renal hypodysplasia/aplasia 3. An important gene associated with Cakut is NRIP1 (Nuclear Receptor Interacting Protein 1), and among its related pathways/superpathways are GDNF-Family Ligands and Receptor Interactions and Adipogenesis. Affiliated tissues include kidney, bone and testes, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.

Related Diseases for Cakut

Diseases related to Cakut via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 33.0 EYA1 PAX2
2 renal hypodysplasia/aplasia 3 32.1 RET FREM2 FRAS1 BMP4
3 renal hypodysplasia/aplasia 1 31.8 RET PAX2 GDNF FREM2 FRAS1 EYA1
4 hirschsprung disease 1 30.1 GDNF GFRA1 RET
5 vesicoureteral reflux 1 30.0 AGTR2 PAX2 SOX17 UMOD
6 kidney disease 29.9 AGTR2 HNF1B PAX2 UMOD
7 renal cysts and diabetes syndrome 11.8
8 congenital anomalies of kidney and urinary tract 1 11.4
9 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 11.4
10 vesicoureteral reflux 2 11.2
11 vesicoureteral reflux 3 11.2
12 vesicoureteral reflux 8 11.2
13 congenital anomalies of kidney and urinary tract 2 11.2
14 renal hypodysplasia/aplasia 2 11.0
15 multicystic dysplastic kidney 10.2 AGTR2 PAX2
16 cryptophthalmos 10.2 FRAS1 FREM2
17 medullary sponge kidney 10.2 GDNF RET
18 familial vesicoureteral reflux 10.2 AGTR2 SOX17
19 vater/vacterl association 10.2
20 vacterl association 10.2
21 renal hypoplasia 10.2 EYA1 FREM2 PAX2
22 hypoganglionosis 10.1 GDNF RET
23 renal dysplasia 10.1 GDNF HNF1B PAX2
24 autosomal dominant tubulointerstitial kidney disease 10.1 HNF1B UMOD
25 cryptorchidism, unilateral or bilateral 10.0
26 bartter disease 10.0
27 glomerulonephritis 10.0
28 scoliosis 10.0
29 hyperuricemic nephropathy, familial juvenile, 1 10.0 HNF1B UMOD
30 chronic kidney failure 10.0
31 multiple endocrine neoplasia, type iib 10.0 GDNF GFRA1 RET
32 multiple endocrine neoplasia, type iia 10.0 GDNF GFRA1 RET
33 diabetes mellitus 10.0
34 hydronephrosis 10.0
35 megacolon 10.0 GDNF GFRA1 RET
36 oligomeganephronia 10.0 RET PAX2 HNF1B GDNF
37 fraser syndrome 1 10.0 FRAS1 FREM2
38 thyroid carcinoma, familial medullary 10.0 GDNF GFRA1 RET
39 jejunoileitis 10.0 GDNF GFRA1
40 cystic kidney disease 10.0 HNF1B PAX2 UMOD

Graphical network of the top 20 diseases related to Cakut:



Diseases related to Cakut

Symptoms & Phenotypes for Cakut

MGI Mouse Phenotypes related to Cakut:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 AGTR2 BMP4 EYA1 FRAS1 GDNF GFRA1
2 growth/size/body region MP:0005378 10.28 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
3 endocrine/exocrine gland MP:0005379 10.2 AGTR2 BMP4 EYA1 GDNF HNF1B LIFR
4 cardiovascular system MP:0005385 10.18 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
5 digestive/alimentary MP:0005381 10.15 AGTR2 BMP4 EYA1 FRAS1 GDNF GFRA1
6 homeostasis/metabolism MP:0005376 10.14 AGTR2 BMP4 EYA1 HNF1B LIFR NRIP1
7 embryo MP:0005380 10.13 BMP4 EYA1 FREM2 GFRA1 HNF1B LIFR
8 mortality/aging MP:0010768 10.13 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
9 immune system MP:0005387 10.02 EYA1 GDNF GFRA1 HNF1B LIFR RET
10 muscle MP:0005369 9.96 AGTR2 BMP4 EYA1 FREM2 GDNF GFRA1
11 nervous system MP:0003631 9.81 AGTR2 BMP4 EYA1 FREM2 GDNF GFRA1
12 renal/urinary system MP:0005367 9.73 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
13 reproductive system MP:0005389 9.28 BMP4 EYA1 FREM2 GDNF LIFR NRIP1

Drugs & Therapeutics for Cakut

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Abdominal Ultrasonography in Urinary Tract Infection - When and Why? Completed NCT03270540
2 Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function Active, not recruiting NCT00760331

Search NIH Clinical Center for Cakut

Genetic Tests for Cakut

Genetic tests related to Cakut:

# Genetic test Affiliating Genes
1 Congenital Anomalies of Kidney and Urinary Tract 29

Anatomical Context for Cakut

MalaCards organs/tissues related to Cakut:

41
Kidney, Bone, Testes, Thyroid

Publications for Cakut

Articles related to Cakut:

(show top 50) (show all 63)
# Title Authors Year
1
Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcome. ( 29314159 )
2018
2
Prospective Study on Several Urinary Biomarkers as Indicators of Renal Damage in Children with CAKUT. ( 29727865 )
2018
3
Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT). ( 29459093 )
2018
4
Impact of next generation sequencing on our understanding of CAKUT. ( 30172048 )
2018
5
Transcriptome-driven integrative exploration of functional state of ureter tissue affected by CAKUT. ( 30261159 )
2018
6
Spontaneous resolution of congenital anomalies of the kidney and the urinary tract (CAKUT). ( 27678512 )
2017
7
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). ( 28593883 )
2017
8
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. ( 28270404 )
2017
9
Whole-Exome Sequencing Reveals <b> <i>FAT4</i> </b> Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. ( 28878612 )
2017
10
Insignificant impact of VUR on the progression of CKD in children with CAKUT. ( 26404649 )
2016
11
Transcriptome-wide based identification of miRs in congenital anomalies of the kidney and urinary tract (CAKUT) in children: the significant upregulation of tissue miR-144 expression. ( 27364533 )
2016
12
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). ( 26572137 )
2016
13
Incidence and Risks of Congenital Anomalies of Kidney and Urinary Tract in Newborns: A Population-Based Case-Control Study in Taiwan. ( 26844492 )
2016
14
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. ( 26489027 )
2016
15
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. ( 26352300 )
2015
16
Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work? ( 25919497 )
2015
17
Maternal diabetes mellitus and congenital anomalies of the kidney and urinary tract (CAKUT) in the child. ( 25595566 )
2015
18
Genetic, environmental, and epigenetic factors involved in CAKUT. ( 26281895 )
2015
19
PTHrP-related Hypercalcaemia in Infancy and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). ( 26019888 )
2015
20
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS). ( 25691411 )
2015
21
Development: Wnt5a implicated in CAKUT. ( 25155797 )
2014
22
Development: Wnt5a implicated in CAKUT. ( 25137561 )
2014
23
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
24
Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT). ( 24821302 )
2014
25
SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract. ( 24899122 )
2014
26
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). ( 25313840 )
2014
27
Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review. ( 24974188 )
2014
28
MicroRNAs: potential regulators of renal development genes that contribute to CAKUT. ( 23996519 )
2014
29
To bud or not to bud: the RET perspective in CAKUT. ( 24022366 )
2014
30
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. ( 24398540 )
2014
31
Evaluation and predictive factors of renal function progression using cystatin C and creatinine in neonates born with CAKUT. ( 24691013 )
2014
32
Congenital anomalies of kidney and urinary tract in siblings: An uncommon condition. ( 23814423 )
2013
33
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2013
34
Interactions between cytokines, congenital anomalies of kidney and urinary tract and chronic kidney disease. ( 24066006 )
2013
35
Conditional loss of kidney microRNAs results in congenital anomalies of the kidney and urinary tract (CAKUT). ( 23344677 )
2013
36
Islet1 deletion causes kidney agenesis and hydroureter resembling CAKUT. ( 23641053 )
2013
37
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT. ( 23812353 )
2013
38
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT). ( 22146311 )
2012
39
Novel genetic aspects of congenital anomalies of kidney and urinary tract. ( 22245908 )
2012
40
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. ( 21900877 )
2012
41
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT). ( 22348788 )
2012
42
Renal outcome in children with antenatal diagnosis of severe CAKUT. ( 22167562 )
2012
43
Early risk factors for neonatal mortality in CAKUT: analysis of 524 affected newborns. ( 22402647 )
2012
44
UG4 enhancer-driven GATA-2 and bone morphogenetic protein 4 complementation remedies the CAKUT phenotype in Gata2 hypomorphic mutant mice. ( 22493062 )
2012
45
Basic research: Ret signaling reveals insights into the pathogenesis of CAKUT. ( 22688745 )
2012
46
Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)? ( 22809486 )
2012
47
Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization. ( 20605837 )
2011
48
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). ( 22121240 )
2011
49
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. ( 20799338 )
2010
50
Congenital anomalies of kidney and urinary tract. ( 20807610 )
2010

Variations for Cakut

ClinVar genetic disease variations for Cakut:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 EMC1 NM_015047.2(EMC1): c.2619_2622delTCCT (p.Pro874Argfs) deletion Likely pathogenic rs869320624 GRCh37 Chromosome 1, 19547308: 19547311
2 EMC1 NM_015047.2(EMC1): c.2619_2622delTCCT (p.Pro874Argfs) deletion Likely pathogenic rs869320624 GRCh38 Chromosome 1, 19220814: 19220817
3 CHD1L NM_004284.5(CHD1L): c.707G> A (p.Arg236His) single nucleotide variant Uncertain significance rs201333837 GRCh38 Chromosome 1, 147264552: 147264552
4 CHD1L NM_004284.5(CHD1L): c.707G> A (p.Arg236His) single nucleotide variant Uncertain significance rs201333837 GRCh37 Chromosome 1, 146736211: 146736211
5 CHD1L NM_001256338.2(CHD1L): c.1594A> G (p.Ile532Val) single nucleotide variant Uncertain significance rs369564534 GRCh38 Chromosome 1, 147286485: 147286485
6 CHD1L NM_001256338.2(CHD1L): c.1594A> G (p.Ile532Val) single nucleotide variant Uncertain significance rs369564534 GRCh37 Chromosome 1, 146758162: 146758162
7 CHD1L NM_001256338.2(CHD1L): c.1666G> A (p.Ala556Thr) single nucleotide variant Uncertain significance rs782687350 GRCh38 Chromosome 1, 147287691: 147287691
8 CHD1L NM_001256338.2(CHD1L): c.1666G> A (p.Ala556Thr) single nucleotide variant Uncertain significance rs782687350 GRCh37 Chromosome 1, 146759370: 146759370
9 SIX2 NM_016932.4(SIX2): c.707C> T (p.Pro236Leu) single nucleotide variant Uncertain significance rs372153489 GRCh38 Chromosome 2, 45006339: 45006339
10 SIX2 NM_016932.4(SIX2): c.707C> T (p.Pro236Leu) single nucleotide variant Uncertain significance rs372153489 GRCh37 Chromosome 2, 45233478: 45233478
11 CDC5L NM_001253.3(CDC5L): c.1802A> G (p.Lys601Arg) single nucleotide variant Uncertain significance rs368161524 GRCh37 Chromosome 6, 44394370: 44394370
12 CDC5L NM_001253.3(CDC5L): c.1802A> G (p.Lys601Arg) single nucleotide variant Uncertain significance rs368161524 GRCh38 Chromosome 6, 44426633: 44426633
13 RET NM_020975.4(RET): c.1201A> T (p.Ser401Cys) single nucleotide variant Uncertain significance rs140638866 GRCh37 Chromosome 10, 43604616: 43604616
14 RET NM_020975.4(RET): c.1201A> T (p.Ser401Cys) single nucleotide variant Uncertain significance rs140638866 GRCh38 Chromosome 10, 43109168: 43109168
15 BMP7 NM_001719.2(BMP7): c.900C> G (p.Ser300Arg) single nucleotide variant Uncertain significance rs540533068 GRCh37 Chromosome 20, 55758836: 55758836
16 BMP7 NM_001719.2(BMP7): c.900C> G (p.Ser300Arg) single nucleotide variant Uncertain significance rs540533068 GRCh38 Chromosome 20, 57183780: 57183780
17 BMP7 NM_001719.2(BMP7): c.752C> T (p.Thr251Met) single nucleotide variant Uncertain significance rs112344257 GRCh37 Chromosome 20, 55777539: 55777539
18 BMP7 NM_001719.2(BMP7): c.752C> T (p.Thr251Met) single nucleotide variant Uncertain significance rs112344257 GRCh38 Chromosome 20, 57202483: 57202483
19 BMP7 NM_001719.2(BMP7): c.334A> G (p.Ser112Gly) single nucleotide variant Uncertain significance rs755895161 GRCh38 Chromosome 20, 57265789: 57265789
20 BMP7 NM_001719.2(BMP7): c.334A> G (p.Ser112Gly) single nucleotide variant Uncertain significance rs755895161 GRCh37 Chromosome 20, 55840845: 55840845
21 LIFR NM_002310.5(LIFR): c.1937C> A (p.Thr646Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs79040751 GRCh37 Chromosome 5, 38493836: 38493836
22 LIFR NM_002310.5(LIFR): c.1937C> A (p.Thr646Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs79040751 GRCh38 Chromosome 5, 38493734: 38493734
23 LIFR NM_002310.5(LIFR): c.3288C> A (p.Asn1096Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs3729751 GRCh38 Chromosome 5, 38481601: 38481601
24 LIFR NM_002310.5(LIFR): c.3288C> A (p.Asn1096Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs3729751 GRCh37 Chromosome 5, 38481703: 38481703
25 LIFR NM_002310.5(LIFR): c.1273_1276delGTTA (p.Val425Ilefs) deletion Pathogenic rs1114167358 GRCh37 Chromosome 5, 38506022: 38506025
26 LIFR NM_002310.5(LIFR): c.1273_1276delGTTA (p.Val425Ilefs) deletion Pathogenic rs1114167358 GRCh38 Chromosome 5, 38505920: 38505923
27 NRIP1 NM_003489.3(NRIP1): c.279delG (p.Trp93Terfs) deletion Pathogenic GRCh38 Chromosome 21, 14967914: 14967914
28 NRIP1 NM_003489.3(NRIP1): c.279delG (p.Trp93Terfs) deletion Pathogenic GRCh37 Chromosome 21, 16340235: 16340235

Copy number variations for Cakut from CNVD:

7 (show top 50) (show all 382)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15194 1 113299763 113313396 Copy number Congenital anomalies of the kidney and urinary tract
2 15940 1 120357104 120525002 Copy number Congenital anomalies of the kidney and urinary tract
3 15996 1 120961845 141468205 Copy number Congenital anomalies of the kidney and urinary tract
4 18009 1 143526765 143543580 Copy number NBPF11 Congenital anomalies of the kidney and urinary tract
5 18352 1 145093000 145110000 Duplication PRKAB2 Congenital anomalies of the kidney and urinary tract
6 18375 1 145122000 145163000 Duplication FMO5 Congenital anomalies of the kidney and urinary tract
7 18383 1 145180000 145234000 Duplication CHD1L Congenital anomalies of the kidney and urinary tract
8 18392 1 145338927 145359805 Copy number NBPF15 Congenital anomalies of the kidney and urinary tract
9 18402 1 145479000 145564000 Duplication BCL9 Congenital anomalies of the kidney and urinary tract
10 18431 1 145585000 145609000 Duplication ACP6 Congenital anomalies of the kidney and urinary tract
11 18453 1 145694000 145699000 Duplication GJA5 Congenital anomalies of the kidney and urinary tract
12 18467 1 145841000 145848000 Duplication GJA8 Congenital anomalies of the kidney and urinary tract
13 18472 1 145867000 145932000 Duplication GPR89B Congenital anomalies of the kidney and urinary tract
14 18477 1 145892000 145932000 Duplication GPR89C Congenital anomalies of the kidney and urinary tract
15 18503 1 146042000 146076000 Duplication NBPF11 Congenital anomalies of the kidney and urinary tract
16 18549 1 146421000 146422000 Duplication PPIAL4A Congenital anomalies of the kidney and urinary tract
17 18552 1 146470000 146492000 Duplication NBPF14 Congenital anomalies of the kidney and urinary tract
18 18568 1 146568000 146569000 Duplication PPIAL4D Congenital anomalies of the kidney and urinary tract
19 18569 1 146568000 146569000 Duplication PPIAL4E Congenital anomalies of the kidney and urinary tract
20 18570 1 146568000 146569000 Duplication PPIAL4F Congenital anomalies of the kidney and urinary tract
21 18577 1 146599106 146628218 Copy number HIST2H3C Congenital anomalies of the kidney and urinary tract
22 18578 1 146599106 146628218 Copy number HIST2H4 Congenital anomalies of the kidney and urinary tract
23 18610 1 146827000 146862000 Duplication NBPF15 Congenital anomalies of the kidney and urinary tract
24 18615 1 146843000 146862000 Duplication NBPF16 Congenital anomalies of the kidney and urinary tract
25 19860 1 151782718 151784906 Copy number S100A4 Congenital anomalies of the kidney and urinary tract
26 20828 1 154677866 154699522 Copy number Congenital anomalies of the kidney and urinary tract
27 21543 1 1594502 1686141 Copy number CDC2L2 Congenital anomalies of the kidney and urinary tract
28 21544 1 1594502 1686141 Copy number SSU72 Congenital anomalies of the kidney and urinary tract
29 31837 1 31435129 31444435 Copy number WDR57 Congenital anomalies of the kidney and urinary tract
30 31838 1 31435129 31444435 Copy number ZCCHC17 Congenital anomalies of the kidney and urinary tract
31 34883 1 57175347 57297452 Deletion OMA1 Congenital anomalies of the kidney and urinary tract
32 42644 10 37523207 37536450 Copy number ANKRD30A Congenital anomalies of the kidney and urinary tract
33 42888 10 42066866 42097773 Copy number Congenital anomalies of the kidney and urinary tract
34 42970 10 42676347 42724171 Copy number Congenital anomalies of the kidney and urinary tract
35 43204 10 45489352 45507880 Copy number Congenital anomalies of the kidney and urinary tract
36 43718 10 4858401 5057607 Copy number AKR1C1 Congenital anomalies of the kidney and urinary tract
37 44518 10 58591323 58643177 Copy number Congenital anomalies of the kidney and urinary tract
38 44994 10 66455837 66527887 Copy number Congenital anomalies of the kidney and urinary tract
39 47164 10 89635453 89993748 Deletion PTEN Congenital anomalies of the kidney and urinary tract
40 48330 11 1 2800000 Copy number Congenital anomalies of the kidney and urinary tract
41 51285 11 124745557 124758015 Copy number PKNOX2 Congenital anomalies of the kidney and urinary tract
42 52014 11 1341557 1478016 Copy number BRSK2 Congenital anomalies of the kidney and urinary tract
43 52015 11 1341557 1478016 Copy number HCCA2 Congenital anomalies of the kidney and urinary tract
44 54013 11 3625683 3638563 Copy number ART1 Congenital anomalies of the kidney and urinary tract
45 62627 12 11040946 11045834 Copy number TAS2R49 Congenital anomalies of the kidney and urinary tract
46 62758 12 11113176 11274374 Copy number TAS2R43 Congenital anomalies of the kidney and urinary tract
47 62759 12 11113176 11274374 Copy number TAS2R44 Congenital anomalies of the kidney and urinary tract
48 62760 12 11113176 11274374 Copy number TAS2R46 Congenital anomalies of the kidney and urinary tract
49 68033 12 47046663 47074456 Copy number Congenital anomalies of the kidney and urinary tract
50 70906 12 66000000 69800000 Amplification MDM2 Congenital anomalies of the kidney and urinary tract

Expression for Cakut

Search GEO for disease gene expression data for Cakut.

Pathways for Cakut

GO Terms for Cakut

Biological processes related to Cakut according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.97 BMP4 HNF1B RET SOX17
2 positive regulation of epithelial cell proliferation GO:0050679 9.77 BMP4 EYA1 PAX2
3 outflow tract morphogenesis GO:0003151 9.76 BMP4 EYA1 SOX17
4 positive regulation of cell differentiation GO:0045597 9.73 BMP4 GDNF SOX17
5 stem cell differentiation GO:0048863 9.68 PAX2 SOX17
6 branching morphogenesis of an epithelial tube GO:0048754 9.67 BMP4 HNF1B
7 cochlea morphogenesis GO:0090103 9.67 EYA1 PAX2
8 renal system development GO:0072001 9.66 BMP4 SOX17
9 morphogenesis of an epithelium GO:0002009 9.66 FRAS1 FREM2
10 embryonic morphogenesis GO:0048598 9.65 BMP4 HNF1B
11 kidney morphogenesis GO:0060993 9.65 AGTR2 HNF1B
12 mesonephros development GO:0001823 9.65 BMP4 PAX2
13 enteric nervous system development GO:0048484 9.64 GDNF RET
14 organ induction GO:0001759 9.63 BMP4 GDNF
15 metanephros development GO:0001656 9.63 BMP4 EYA1 GDNF
16 epithelium development GO:0060429 9.62 BMP4 HNF1B
17 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.62 GFRA1 RET
18 branching involved in ureteric bud morphogenesis GO:0001658 9.62 BMP4 EYA1 GDNF PAX2
19 regulation of protein import into nucleus GO:0042306 9.61 AGTR2 BMP4
20 metanephric collecting duct development GO:0072205 9.61 BMP4 PAX2
21 endoderm development GO:0007492 9.61 BMP4 HNF1B SOX17
22 pronephros development GO:0048793 9.59 HNF1B PAX2
23 mesodermal cell fate specification GO:0007501 9.58 EYA1 PAX2
24 ureteric bud development GO:0001657 9.56 BMP4 EYA1 GDNF RET
25 positive regulation of transcription, DNA-templated GO:0045893 9.56 AGTR2 BMP4 EYA1 HNF1B NRIP1 PAX2
26 metanephric distal convoluted tubule development GO:0072221 9.55 PAX2 UMOD
27 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.54 GDNF PAX2
28 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.54 AGTR2 GDNF PAX2
29 regulation of morphogenesis of a branching structure GO:0060688 9.52 BMP4 GDNF
30 ureter maturation GO:0035799 9.51 PAX2 RET
31 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.49 HNF1B PAX2
32 nephric duct formation GO:0072179 9.48 HNF1B PAX2
33 regulation of metanephros size GO:0035566 9.4 AGTR2 PAX2
34 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.33 BMP4 GDNF PAX2
35 positive regulation of metanephric glomerulus development GO:0072300 8.8 AGTR2 PAX2 RET
36 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 BMP4 EYA1 GDNF HNF1B NRIP1 PAX2
37 negative regulation of apoptotic process GO:0043066 10.04 BMP4 GDNF HNF1B PAX2 RET
38 positive regulation of cell proliferation GO:0008284 10.03 AGTR2 BMP4 GDNF LIFR PAX2

Molecular functions related to Cakut according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 GDNF GFRA1 RET

Sources for Cakut

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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