CAKUT
MCID: CKT002
MIFTS: 49

Cakut (CAKUT)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Cakut

MalaCards integrated aliases for Cakut:

Name: Cakut 12 25 58 15 71
Congenital Anomalies of Kidney and Urinary Tract 25 58 36 29 6
Congenital Anomalies of the Kidney and Urinary Tract 12 29 6
Renal or Urinary Tract Malformation 12 58
Kidney and Urinary Tract, Anomalies, Congenital 39
Renal Hypodysplasia, Nonsyndromic, 1 71

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080205
KEGG 36 H01867
UMLS via Orphanet 72 C1968949
Orphanet 58 ORPHA93545
UMLS 71 C1835826 C1968949

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. Individuals with CAKUT have one or more kidney or urinary tract abnormalities. For paired structures, like the kidneys and ureters, one or both may be affected. Many different developmental abnormalities are classified as CAKUT, including underdevelopment or absence of a kidney (renal hypodysplasia or agenesis), a kidney formed of fluid-filled sacs called cysts (multicystic dysplastic kidney), buildup of urine in the kidneys (hydronephrosis), an extra ureter leading to the kidney (duplex kidney or duplicated collecting system), a blockage in a ureter where it joins the kidney (ureteropelvic junction obstruction), an abnormally wide ureter (megaureter), backflow of urine from the bladder into the ureter (vesicoureteral reflux), and an abnormal membrane in the urethra that blocks the flow of urine out of the bladder (posterior urethral valve). CAKUT varies in severity. The abnormalities can result in recurrent urinary tract infections or a buildup of urine in the urinary tract, which may damage the kidneys or other structures. Severe CAKUT can result in life-threatening kidney failure and end-stage renal disease. CAKUT is often one of several features of a condition that affects multiple body systems (syndromic CAKUT). For example, renal coloboma syndrome, 17q12 deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney or urinary tract abnormalities in addition to other problems. However, urinary system abnormalities sometimes occur without other signs and symptoms, which is known as nonsyndromic or isolated CAKUT.

MalaCards based summary : Cakut, also known as congenital anomalies of kidney and urinary tract, is related to papillorenal syndrome and congenital anomalies of kidney and urinary tract 2. An important gene associated with Cakut is SLIT2 (Slit Guidance Ligand 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. The drug Acidophilus has been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are Decreased viability in esophageal squamous lineage and cellular

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

KEGG : 36 Congenital anomalies of the kidney and urinary tract (CAKUT) include a wide range of structural malformations resulting from defects in the morphogenesis of the kidney and of the urinary tract. CAKUT represent a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. The most severe cases of CAKUT (bilateral aplasia, hypoplasia, dysplasia, obstructive uropathy, and reflux nephropathy) are the leading cause of pediatric end-stage renal disease (ESRD) in children. Both genetic abnormalities and the fetal environment contribute to CAKUT.

Related Diseases for Cakut

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 33.6 PAX2 HNF1B GDNF FREM2 FRAS1 EYA1
2 congenital anomalies of kidney and urinary tract 2 33.5 UMOD PAX2 EYA1 AGTR2
3 renal hypodysplasia/aplasia 3 32.6 RET FREM2 FRAS1 BMP4
4 renal hypodysplasia/aplasia 1 32.5 SLIT2 RET PAX2 GFRA1 GDNF FREM2
5 multicystic dysplastic kidney 31.5 PAX2 AGTR2
6 renal dysplasia 31.2 PAX2 HNF1B GDNF
7 renal hypoplasia 31.2 PAX2 HNF1B GDNF FREM2 EYA1
8 urinary tract obstruction 31.2 UMOD PAX2 GDNF
9 multiple endocrine neoplasia, type iia 31.1 RET GFRA1 GDNF
10 oligohydramnios 31.1 HNF1B FREM2 FRAS1
11 medullary sponge kidney 31.0 RET GDNF
12 familial vesicoureteral reflux 31.0 SOX17 AGTR2
13 townes-brocks syndrome 30.9 PAX2 FREM2 FRAS1 EYA1
14 hyperuricemic nephropathy, familial juvenile, 1 30.9 UMOD PAX2 HNF1B
15 kidney disease 30.8 UMOD RET PAX2 HNF1B EYA1 AGTR2
16 posterior urethral valves 30.7 NRIP1 AGTR2
17 fraser syndrome 1 30.7 PAX2 GDNF FREM2 FRAS1 EYA1 BMP4
18 vesicoureteral reflux 1 30.6 UMOD SOX17 SLIT2 RET PAX2 GDNF
19 congenital anomalies of kidney and urinary tract 3 13.0
20 genetic renal or urinary tract malformation 12.6
21 genetic non-syndromic renal or urinary tract malformation 12.6
22 syndromic renal or urinary tract malformation 12.6
23 non-syndromic renal or urinary tract malformation 12.6
24 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut 12.6
25 renal cysts and diabetes syndrome 12.0
26 congenital anomalies of kidney and urinary tract 1 11.9
27 vesicoureteral reflux 3 11.7
28 vesicoureteral reflux 2 11.4
29 vesicoureteral reflux 8 11.4
30 renal hypodysplasia/aplasia 2 11.2
31 acrorenal syndrome 10.6 FREM2 FRAS1
32 renal hypoplasia, bilateral 10.6 PBX1 PAX2
33 autosomal dominant tubulointerstitial kidney disease 10.6 UMOD HNF1B
34 oligomeganephronia 10.6 PAX2 HNF1B EYA1
35 hypoganglionosis 10.6 RET GDNF
36 laryngostenosis 10.6 FREM2 FRAS1
37 multiple mucosal neuroma 10.6 RET GDNF
38 catecholamine-producing tumor 10.6 RET GDNF
39 multiple endocrine neoplasia, type iib 10.6 RET GFRA1 GDNF
40 cryptophthalmos 10.6 FREM2 FRAS1
41 skin lipoma 10.6 RET GFRA1
42 megacolon 10.5 RET GFRA1 GDNF
43 jejunoileitis 10.5 GFRA1 GDNF
44 thyroid carcinoma, familial medullary 10.5 RET GFRA1 GDNF
45 end stage renal failure 10.5
46 diaphragmatic hernia, congenital 10.5 FREM2 FRAS1 BMP4
47 endometrial clear cell adenocarcinoma 10.5 PAX2 HNF1B
48 chromosome 2q35 duplication syndrome 10.5 FREM2 FRAS1 BMP4
49 branchiootorenal syndrome 10.4 PAX2 HNF1B FREM2 FRAS1 EYA1 BMP4
50 pituitary adenoma, prolactin-secreting 10.4 PBX1 LIFR GFRA1 BMP4

Graphical network of the top 20 diseases related to Cakut:



Diseases related to Cakut

Symptoms & Phenotypes for Cakut

GenomeRNAi Phenotypes related to Cakut according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.32 FRAS1 GFRA1 HNF1B NRIP1 PBX1 SLIT2

MGI Mouse Phenotypes related to Cakut:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.43 AGTR2 BMP4 EYA1 FRAS1 GDNF GFRA1
2 growth/size/body region MP:0005378 10.41 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
3 cardiovascular system MP:0005385 10.38 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
4 endocrine/exocrine gland MP:0005379 10.37 AGTR2 BMP4 EYA1 GDNF HNF1B LIFR
5 digestive/alimentary MP:0005381 10.33 AGTR2 BMP4 EYA1 FRAS1 GDNF GFRA1
6 mortality/aging MP:0010768 10.31 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
7 embryo MP:0005380 10.28 BMP4 EYA1 FREM2 GFRA1 HNF1B LIFR
8 homeostasis/metabolism MP:0005376 10.27 AGTR2 BMP4 EYA1 HNF1B LIFR NRIP1
9 immune system MP:0005387 10.26 AGTR2 EYA1 GDNF GFRA1 HNF1B LIFR
10 nervous system MP:0003631 10.1 AGTR2 BMP4 EYA1 FREM2 GDNF GFRA1
11 renal/urinary system MP:0005367 10.1 AGTR2 BMP4 EYA1 FRAS1 FREM2 GDNF
12 muscle MP:0005369 10.07 AGTR2 BMP4 EYA1 FREM2 GDNF GFRA1
13 integument MP:0010771 10.06 AGTR2 BMP4 FRAS1 FREM2 GFRA1 PBX1
14 limbs/digits/tail MP:0005371 9.98 BMP4 FRAS1 FREM2 LIFR PBX1 RET
15 reproductive system MP:0005389 9.85 BMP4 EYA1 FREM2 GDNF LIFR NRIP1
16 respiratory system MP:0005388 9.5 BMP4 EYA1 FRAS1 FREM2 PBX1 RET
17 skeleton MP:0005390 9.28 AGTR2 BMP4 EYA1 FRAS1 FREM2 LIFR

Drugs & Therapeutics for Cakut

Drugs for Cakut (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Acidophilus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1 Open-Label Safety, Tolerability, and Early Efficacy Study of a Renal Autologous Cell Therapy (REACT) in Patients With Chronic Kidney Disease From Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) (REGEN-004) Recruiting NCT04115345 Phase 1
2 Renal Outcome in Children With Congenital Solitary Kidney: a Longitudinal Prognostic Study Unknown status NCT01831141
3 Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes Completed NCT00925379
4 Abdominal Ultrasonography in Urinary Tract Infection - When and Why? Completed NCT03270540
5 Cardiovascular Comorbidity in Children With Chronic Kidney Disease: Identification of Novel Biomarkers and Therapeutic Targets Recruiting NCT03227055
6 A Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function Active, not recruiting NCT00760331
7 Effectiveness of Prophylaxis of Urinary Tract Infections in Children With a Probiotic Containing Lactobacillus Rhamnosus PL1 and Lactobacillus Plantarum PM1, a Randomised Clinical Trial Not yet recruiting NCT03462160

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
2 Congenital Anomalies of the Kidney and Urinary Tract 29

Anatomical Context for Cakut

MalaCards organs/tissues related to Cakut:

40
Kidney, Bone, Testes, Heart, Liver, Thyroid, Skin

Publications for Cakut

Articles related to Cakut:

(show top 50) (show all 352)
# Title Authors PMID Year
1
Sex and age as determinants for high blood pressure in pediatric renal transplant recipients: a longitudinal analysis of the CERTAIN Registry. 61
31811541 2020
2
Antibiotic Prophylaxis Prescribing Patterns of Pediatric Urologists for Children with Vesicoureteral Reflux and other Congenital Anomalies of the Kidney and Urinary Tract. 61
31758980 2020
3
Congenital Anomalies of the Kidney and Urinary Tract in Children with Congenital Heart Defects. 61
32018253 2020
4
Primary causes of kidney disease and mortality in dialysis-dependent children. 61
32020338 2020
5
Whole genome sequencing and novel candidate genes for CAKUT and altered nephrogenesis in the HSRA rat. 61
31841396 2020
6
Intrauterine low-protein diet aggravates developmental abnormalities of the urinary system via the Akt/Creb3 pathway in Robo2 mutant mice. 61
31630547 2020
7
Prenatal diagnosis and postnatal outcome of anterior urethral anomalies. 61
31654578 2020
8
Duplex kidney formation: developmental mechanisms and genetic predisposition. 61
32030122 2020
9
Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract. 61
31862704 2020
10
The association between gestational use of personal care products and neonatal urological abnormality at birth: The Japan Environment and Children's Study. 61
31978451 2020
11
The Frequency of Familial Congenital Anomalies of the Kidney and Urinary Tract: Should We Screen Asymptomatic First-Degree Relatives Using Urinary Tract Ultrasonography? 61
31910412 2020
12
Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays. 61
31506986 2020
13
The old becomes new: advances in imaging techniques to assess nephron mass in children. 61
31953750 2020
14
Interkinetic nuclear movements promote apical expansion in pseudostratified epithelia at the expense of apicobasal elongation. 61
31869321 2019
15
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. 61
31708116 2019
16
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. 61
31263215 2019
17
Outcome of posterior urethral valve in 64 children: a single center's 22-year experience. 61
30767491 2019
18
Long-term all-cause mortality and cardiovascular outcomes in Scottish children after initiation of renal replacement therapy: a national cohort study. 61
31845058 2019
19
[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates]. 61
31848505 2019
20
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. 61
31738409 2019
21
Long-term outcome of kidney transplantation in patients with congenital anomalies of the kidney and urinary tract. 61
31309282 2019
22
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system. 61
31328266 2019
23
Urinary tract infection in pediatrics: an overview. 61
31783012 2019
24
Neonatal acute kidney injury: recording rate, course, and outcome: one center experience. 61
29635946 2019
25
Expanding the knowledge on development of CAKUT: molecular genetics and beyond. 61
31807577 2019
26
Generation of infant- and pediatric-derived urinary induced pluripotent stem cells competent to form kidney organoids. 61
31629364 2019
27
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 61
31230195 2019
28
Clinical characteristics of HNF1B-related disorders in a Japanese population. 61
31131422 2019
29
Expanding congenital abnormalities of the kidney and urinary tract (CAKUT) genetics: basonuclin 2 (BNC2) and lower urinary tract obstruction. 61
31656805 2019
30
Collaborative Brazilian pediatric renal transplant registry (CoBrazPed-RTx): A report from 2004 to 2018. 61
31332958 2019
31
[Analysis on diagnosis rate of chronic kidney disease in hospitalized pediatric patients]. 61
31530351 2019
32
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution. 61
30937553 2019
33
Significance of third trimester ultrasound in detecting congenital abnormalities of kidney and urinary tract-a prospective study. 61
31031163 2019
34
Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT). 61
31343747 2019
35
The genomic landscape of CAKUT; you gain some, you lose some. 61
31331462 2019
36
Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation. 61
31471357 2019
37
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. 61
31042281 2019
38
Sprouty1 Controls Genitourinary Development via its N-Terminal Tyrosine. 61
31300484 2019
39
Glomerular disease patients have higher odds not to reach quality targets in chronic dialysis compared with CAKUT patients: analyses from a nationwide German paediatric dialysis registry. 61
30843113 2019
40
Impact of next generation sequencing on our understanding of CAKUT. 61
30172048 2019
41
Blood Pressure Abnormalities Associated with Gut Microbiota-Derived Short Chain Fatty Acids in Children with Congenital Anomalies of the Kidney and Urinary Tract. 61
31344888 2019
42
Clinical Spectrum of Congenital Anomalies of Kidney and Urinary Tract in Children. 61
31333211 2019
43
Pancake kidney, a rare and often misdiagnosed malformation: a case report and radiological differential diagnosis. 61
30361920 2019
44
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract. 61
31198537 2019
45
Intrauterine low-protein diet disturbs metanephric gene expression and induces urinary tract developmental abnormalities in mice. 61
30987821 2019
46
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. 61
31005274 2019
47
Developmental pathology of congenital kidney and urinary tract anomalies. 61
31198539 2019
48
MAPK/ERK Signaling in Regulation of Renal Differentiation. 61
30974877 2019
49
Modeling congenital kidney diseases in Xenopus laevis. 61
30967415 2019
50
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. 61
30604070 2019

Variations for Cakut

ClinVar genetic disease variations for Cakut:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LIFR NM_001127671.2(LIFR):c.1273_1276del (p.Val425fs)deletion Pathogenic 369648 rs1114167358 5:38506022-38506025 5:38505920-38505923
2 NRIP1 NM_003489.4(NRIP1):c.279del (p.Asp92_Trp93insTer)deletion Pathogenic 548653 rs1555879360 21:16340235-16340235 21:14967914-14967914
3 SLIT2 NM_004787.4(SLIT2):c.292G>A (p.Ala98Thr)SNV Pathogenic 684623 4:20259531-20259531 4:20257908-20257908
4 SLIT2 NM_004787.4(SLIT2):c.2712A>T (p.Lys904Asn)SNV Pathogenic 684624 4:20555578-20555578 4:20553955-20553955
5 SRGAP1 NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr)SNV Pathogenic 684621 12:64456701-64456701 12:64062921-64062921
6 SRGAP1 NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr)SNV Pathogenic 684622 12:64505615-64505615 12:64111835-64111835
7 EMC1 NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs)deletion Likely pathogenic 219099 rs869320624 1:19547308-19547311 1:19220814-19220817
8 SLIT2 NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn)SNV Conflicting interpretations of pathogenicity 633691 rs200151302 4:20535203-20535203 4:20533580-20533580
9 LIFR NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)SNV Conflicting interpretations of pathogenicity 235543 rs79040751 5:38493836-38493836 5:38493734-38493734
10 LIFR NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)SNV Conflicting interpretations of pathogenicity 353605 rs3729751 5:38481703-38481703 5:38481601-38481601
11 CHD1L NM_004284.6(CHD1L):c.707G>A (p.Arg236His)SNV Uncertain significance 224340 rs201333837 1:146736211-146736211 1:147264552-147264552
12 CHD1L NM_004284.6(CHD1L):c.2206A>G (p.Ile736Val)SNV Uncertain significance 224341 rs369564534 1:146758162-146758162 1:147286485-147286485
13 CHD1L NM_004284.6(CHD1L):c.2278G>A (p.Ala760Thr)SNV Uncertain significance 224339 rs782687350 1:146759370-146759370 1:147287691-147287691
14 SIX2 NM_016932.5(SIX2):c.707C>T (p.Pro236Leu)SNV Uncertain significance 224349 rs372153489 2:45233478-45233478 2:45006339-45006339
15 CDC5L NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg)SNV Uncertain significance 224338 rs368161524 6:44394370-44394370 6:44426633-44426633
16 RET NM_020975.6(RET):c.1201A>T (p.Ser401Cys)SNV Uncertain significance 224354 rs140638866 10:43604616-43604616 10:43109168-43109168
17 BMP7 NM_001719.3(BMP7):c.900C>G (p.Ser300Arg)SNV Uncertain significance 224336 rs540533068 20:55758836-55758836 20:57183780-57183780
18 BMP7 NM_001719.3(BMP7):c.752C>T (p.Thr251Met)SNV Uncertain significance 224335 rs112344257 20:55777539-55777539 20:57202483-57202483
19 BMP7 NM_001719.3(BMP7):c.334A>G (p.Ser112Gly)SNV Uncertain significance 224337 rs755895161 20:55840845-55840845 20:57265789-57265789

Copy number variations for Cakut from CNVD:

7 (show top 50) (show all 382)
# CNVD ID Chromosome 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

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.1 SOX17 SOX11 PBX1 PAX2 NRIP1 HNF1B

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

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.18 SOX11 SLIT2 PBX1 PAX2 FREM2 EYA1
2 cell differentiation GO:0030154 10.17 SOX17 SOX11 SLIT2 PBX1 PAX2 BMP4
3 nervous system development GO:0007399 10.07 SOX11 SLIT2 RET GFRA1 GDNF
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 SOX17 SOX11 PBX1 PAX2 NRIP1 HNF1B
5 positive regulation of gene expression GO:0010628 10.05 SOX17 SOX11 RET HNF1B BMP4
6 positive regulation of cell proliferation GO:0008284 10 SOX11 PBX1 PAX2 LIFR GDNF BMP4
7 axon guidance GO:0007411 9.95 SLIT2 RET GFRA1 GDNF
8 negative regulation of cell growth GO:0030308 9.88 SOX17 SLIT2 AGTR2
9 kidney development GO:0001822 9.87 SOX11 HNF1B BMP4
10 positive regulation of epithelial cell proliferation GO:0050679 9.81 PAX2 EYA1 BMP4
11 positive regulation of transcription, DNA-templated GO:0045893 9.81 SOX17 SOX11 RET PAX2 NRIP1 HNF1B
12 embryonic limb morphogenesis GO:0030326 9.8 PBX1 FRAS1 BMP4
13 embryonic skeletal system morphogenesis GO:0048704 9.79 SOX11 EYA1 BMP4
14 positive regulation of cell differentiation GO:0045597 9.78 SOX17 GDNF BMP4
15 embryonic organ development GO:0048568 9.73 SOX17 PBX1 GDNF
16 outflow tract morphogenesis GO:0003151 9.73 SOX17 SOX11 EYA1 BMP4
17 lung morphogenesis GO:0060425 9.71 SOX11 BMP4
18 embryonic morphogenesis GO:0048598 9.71 HNF1B BMP4
19 morphogenesis of an epithelium GO:0002009 9.7 FREM2 FRAS1
20 embryonic digestive tract morphogenesis GO:0048557 9.7 SOX11 HNF1B
21 endoderm development GO:0007492 9.7 SOX17 HNF1B BMP4
22 sympathetic nervous system development GO:0048485 9.69 SOX11 GDNF
23 urogenital system development GO:0001655 9.69 PBX1 PAX2
24 branching morphogenesis of an epithelial tube GO:0048754 9.69 SLIT2 HNF1B BMP4
25 positive regulation of ossification GO:0045778 9.68 SOX11 BMP4
26 pulmonary valve morphogenesis GO:0003184 9.68 SLIT2 BMP4
27 kidney morphogenesis GO:0060993 9.68 HNF1B AGTR2
28 mesonephros development GO:0001823 9.68 PAX2 BMP4
29 enteric nervous system development GO:0048484 9.67 RET GDNF
30 organ induction GO:0001759 9.67 GDNF BMP4
31 epithelium development GO:0060429 9.66 HNF1B BMP4
32 regulation of protein import into nucleus GO:0042306 9.66 BMP4 AGTR2
33 glial cell-derived neurotrophic factor receptor signaling pathway GO:0035860 9.65 RET GFRA1
34 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.65 PAX2 GDNF AGTR2
35 metanephric collecting duct development GO:0072205 9.64 PAX2 BMP4
36 ureter development GO:0072189 9.62 SOX17 PAX2
37 pronephros development GO:0048793 9.62 PAX2 HNF1B
38 metanephros development GO:0001656 9.62 SOX17 GDNF EYA1 BMP4
39 mesodermal cell fate specification GO:0007501 9.6 PAX2 EYA1
40 metanephric distal convoluted tubule development GO:0072221 9.59 UMOD PAX2
41 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.58 PAX2 GDNF
42 regulation of morphogenesis of a branching structure GO:0060688 9.58 GDNF BMP4
43 ureter maturation GO:0035799 9.57 RET PAX2
44 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.55 PAX2 HNF1B
45 nephric duct formation GO:0072179 9.54 PAX2 HNF1B
46 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.54 PAX2 GDNF BMP4
47 regulation of metanephros size GO:0035566 9.49 PAX2 AGTR2
48 positive regulation of metanephric glomerulus development GO:0072300 9.43 RET PAX2 AGTR2
49 branching involved in ureteric bud morphogenesis GO:0001658 9.35 PBX1 PAX2 GDNF EYA1 BMP4
50 ureteric bud development GO:0001657 9.02 SLIT2 RET GDNF EYA1 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 TRAP1 SRGAP1 SOX17 SLIT2 RET PBX1

Sources for Cakut

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
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36 KEGG
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39 LOVD
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43 MeSH
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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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