Aliases & Classifications for Cakut

MalaCards integrated aliases for Cakut:

Name: Cakut 12 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

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

MalaCards based summary : Cakut, also known as congenital anomalies of kidney and urinary tract, is related to renal hypodysplasia/aplasia 1 and papillorenal syndrome. An important gene associated with Cakut is LIFR (LIF Receptor Alpha), and among its related pathways/superpathways is Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include kidney, and related phenotypes are embryo and endocrine/exocrine gland

Related Diseases for Cakut

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
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.8 LIFR PARP1 PAX2 PBX1 RET
2 endocrine/exocrine gland MP:0005379 9.67 RET LIFR PAX2 PBX1
3 mortality/aging MP:0010768 9.65 LIFR PARP1 PAX2 PBX1 RET
4 nervous system MP:0003631 9.55 LIFR PARP1 PAX2 PBX1 RET
5 hearing/vestibular/ear MP:0005377 9.5 PARP1 PAX2 PBX1
6 renal/urinary system MP:0005367 9.35 LIFR PARP1 PAX2 PBX1 RET
7 reproductive system MP:0005389 9.02 LIFR PARP1 PAX2 PBX1 RET

Drugs & Therapeutics for Cakut

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Abdominal Ultrasonography in Urinary Tract Infection - When and Why? Recruiting NCT03270540
2 Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function 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

Publications for Cakut

Articles related to Cakut:

(show all 41)
# 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
Spontaneous resolution of congenital anomalies of the kidney and the urinary tract (CAKUT). ( 27678512 )
2017
5
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). ( 28593883 )
2017
6
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. ( 28270404 )
2017
7
Whole-Exome Sequencing Reveals <b> <i>FAT4</i> </b> Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. ( 28878612 )
2017
8
Insignificant impact of VUR on the progression of CKD in children with CAKUT. ( 26404649 )
2016
9
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
10
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
11
Incidence and Risks of Congenital Anomalies of Kidney and Urinary Tract in Newborns: A Population-Based Case-Control Study in Taiwan. ( 26844492 )
2016
12
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. ( 26489027 )
2016
13
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. ( 26352300 )
2015
14
Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work? ( 25919497 )
2015
15
Maternal diabetes mellitus and congenital anomalies of the kidney and urinary tract (CAKUT) in the child. ( 25595566 )
2015
16
Genetic, environmental, and epigenetic factors involved in CAKUT. ( 26281895 )
2015
17
PTHrP-related Hypercalcaemia in Infancy and Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). ( 26019888 )
2015
18
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
19
Development: Wnt5a implicated in CAKUT. ( 25155797 )
2014
20
Development: Wnt5a implicated in CAKUT. ( 25137561 )
2014
21
Recessive mutations in CAKUT and VACTERL association. ( 24875543 )
2014
22
Associated nonurinary congenital anomalies among infants with congenital anomalies of kidney and urinary tract (CAKUT). ( 24821302 )
2014
23
SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract. ( 24899122 )
2014
24
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). ( 25313840 )
2014
25
Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review. ( 24974188 )
2014
26
Congenital anomalies of kidney and urinary tract in siblings: An uncommon condition. ( 23814423 )
2013
27
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. ( 24152966 )
2013
28
Interactions between cytokines, congenital anomalies of kidney and urinary tract and chronic kidney disease. ( 24066006 )
2013
29
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT). ( 22146311 )
2012
30
Novel genetic aspects of congenital anomalies of kidney and urinary tract. ( 22245908 )
2012
31
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. ( 21900877 )
2012
32
Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT). ( 22348788 )
2012
33
Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization. ( 20605837 )
2011
34
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
35
Congenital anomalies of kidney and urinary tract. ( 20807610 )
2010
36
Expression profiling of the AT2R mRNA in affected tissue from children with CAKUT. ( 19781541 )
2010
37
Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association. ( 19282698 )
2009
38
Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). ( 18846391 )
2009
39
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients. ( 19685083 )
2009
40
Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT). ( 14521546 )
2003
41
Changing concepts in urological management of the congenital anomalies of kidney and urinary tract, CAKUT. ( 14521549 )
2003

Variations for Cakut

ClinVar genetic disease variations for Cakut:

6
(show all 26)
# 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

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

Pathways related to Cakut according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.84 PBX1 RET

GO Terms for Cakut

Cellular components related to Cakut according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.16 PARP1 PBX1
2 receptor complex GO:0043235 8.96 LIFR RET
3 protein-DNA complex GO:0032993 8.62 PARP1 PAX2

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.61 PAX2 PBX1 RET
2 transcription by RNA polymerase II GO:0006366 9.58 PARP1 PAX2 PBX1
3 positive regulation of cell proliferation GO:0008284 9.54 LIFR PAX2 PBX1
4 cellular response to retinoic acid GO:0071300 9.32 PAX2 RET
5 branching involved in ureteric bud morphogenesis GO:0001658 9.26 PAX2 PBX1
6 urogenital system development GO:0001655 9.16 PAX2 PBX1
7 ureter maturation GO:0035799 8.96 PAX2 RET
8 positive regulation of metanephric glomerulus development GO:0072300 8.62 PAX2 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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