CAKUT
MCID: CKT002
MIFTS: 51

Cakut (CAKUT)

Categories: Fetal diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Cakut

MalaCards integrated aliases for Cakut:

Name: Cakut 11 42 58 43 14 71
Congenital Anomalies of Kidney and Urinary Tract 42 58
Congenital Anomaly of Kidney and Urinary Tract 28 5
Renal or Urinary Tract Malformation 11 58
Congenital Anomalies of the Kidney and Urinary Tract 11
Kidney and Urinary Tract, Anomalies, Congenital 38
Renal Hypodysplasia, Nonsyndromic, 1 71

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080205
MeSH 43 C566906
UMLS via Orphanet 72 C1968949
Orphanet 58 ORPHA93545
UMLS 71 C1835826 C1968949

Summaries for Cakut

MedlinePlus Genetics: 42 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 FRAS1 (Fraser Extracellular Matrix Complex Subunit 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Development Slit-Robo signaling. The drugs Amoxicillin and Nitrofurantoin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are Decreased viability in pancreas lineage and growth/size/body region

Disease Ontology: 11 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 top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 32.9 SALL1 PAX2 HNF1B FREM2 FRAS1
2 congenital anomalies of kidney and urinary tract 2 32.6 TBX18 PAX2 FREM2 FRAS1
3 renal hypodysplasia/aplasia 1 32.2 SLIT2 SALL1 PAX2 HNF1B GREB1L FREM2
4 renal hypodysplasia/aplasia 3 32.2 GREB1L FREM2 FRAS1
5 chronic kidney disease 31.1 TBX18 PAX2 NRIP1 NPHP1 HNF1B
6 vesicoureteral reflux 31.1 TBX18 SLIT2 SALL1 PAX2 HPSE2 HNF1B
7 renal hypoplasia 31.0 SALL1 PAX2 HNF1B
8 branchiootorenal syndrome 31.0 SALL1 PAX2 HNF1B FRAS1
9 oligohydramnios 31.0 PAX2 NPHP1 HNF1B FREM2 FRAS1
10 renal agenesis, bilateral 31.0 ROBO1 GREB1L
11 ureterocele 31.0 PAX2 NPHP1
12 polycystic kidney disease 4 with or without polycystic liver disease 30.9 PAX2 NPHP1 HNF1B
13 prune belly syndrome 30.7 TBX18 SALL1 PAX2 HPSE2 HNF1B
14 vacterl association 30.7 TRAP1 SALL1 PAX2
15 posterior urethral valves 30.7 TBX18 NRIP1
16 townes-brocks syndrome 30.5 SALL1 PAX2 FREM2 FRAS1
17 tubulointerstitial kidney disease, autosomal dominant, 1 30.5 PAX2 NPHP1 HNF1B
18 acrorenal syndrome 30.4 FREM2 FRAS1
19 anterior segment dysgenesis 30.3 PAX2 FOXC1 COL4A1
20 congenital anomalies of kidney and urinary tract 3 12.0
21 non-syndromic renal or urinary tract malformation 11.6
22 genetic renal or urinary tract malformation 11.4
23 genetic non-syndromic renal or urinary tract malformation 11.4
24 syndromic renal or urinary tract malformation 11.4
25 renal cysts and diabetes syndrome 11.4
26 bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakut 11.4
27 vesicoureteral reflux 2 11.3
28 vesicoureteral reflux 3 11.3
29 vesicoureteral reflux 8 11.3
30 congenital anomalies of kidney and urinary tract 1 11.3
31 daentl towsend siegel syndrome 11.3
32 multicystic dysplastic kidney 11.0
33 renal hypodysplasia/aplasia 2 10.9
34 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 10.9
35 unilateral multicystic dysplastic kidney 10.9
36 bilateral multicystic dysplastic kidney 10.9
37 bilateral renal aplasia 10.5 PAX2 GREB1L FRAS1
38 oligomeganephronia 10.5 SALL1 PAX2 HNF1B
39 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.5 PAX2 HNF1B GREB1L
40 dacryocystocele 10.5 FREM2 FRAS1
41 mayer-rokitansky-kuster-hauser syndrome 10.5 PAX2 HNF1B GREB1L
42 chronic inflammation of lacrimal passage 10.5 FREM2 FRAS1
43 anus, imperforate 10.5 SALL1 FREM2 FRAS1
44 coloboma of macula 10.5 SALL1 PAX2 NPHP1 GDF6 FREM2 FRAS1
45 laryngostenosis 10.5 FREM2 FRAS1
46 congenital symblepharon 10.5 FREM2 FRAS1
47 partial cryptophthalmia 10.5 FREM2 FRAS1
48 zygodactyly 1 10.5 FREM2 FRAS1
49 cryptophthalmos 10.5 FREM2 FRAS1
50 cryptophthalmos, unilateral or bilateral, isolated 10.5 FREM2 FRAS1

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in pancreas lineage GR00235-A 8.32 FOXC1

MGI Mouse Phenotypes related to Cakut:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 ACTG1 COL4A1 DNASE1 FOXC1 FRAS1 FREM2
2 renal/urinary system MP:0005367 10.41 COL4A1 DNASE1 FOXC1 FRAS1 FREM2 GREB1L
3 nervous system MP:0003631 10.36 ACTG1 COL4A1 FOXC1 FREM2 GDF6 GREB1L
4 cellular MP:0005384 10.18 COL4A1 DNASE1 FOXC1 FRAS1 HNF1B NPHP1
5 embryo MP:0005380 10.17 ACTG1 COL4A1 FOXC1 FREM2 GREB1L HNF1B
6 endocrine/exocrine gland MP:0005379 10.16 FOXC1 GREB1L HNF1B LIFR NPHP1 NRIP1
7 digestive/alimentary MP:0005381 10.1 ACTG1 FOXC1 FRAS1 GREB1L HNF1B HPSE2
8 cardiovascular system MP:0005385 10.1 COL4A1 DNASE1 FOXC1 FRAS1 FREM2 GREB1L
9 muscle MP:0005369 10.07 ACTG1 COL4A1 FOXC1 FREM2 HNF1B ROBO1
10 limbs/digits/tail MP:0005371 10.05 FOXC1 FRAS1 FREM2 GDF6 LIFR NPHP1
11 hearing/vestibular/ear MP:0005377 9.97 ACTG1 DNASE1 FREM2 GDF6 PAX2 SALL1
12 reproductive system MP:0005389 9.9 COL4A1 DNASE1 FOXC1 FREM2 GREB1L LIFR
13 respiratory system MP:0005388 9.8 COL4A1 FOXC1 FRAS1 FREM2 GREB1L ROBO1
14 vision/eye MP:0005391 9.61 COL4A1 FOXC1 FRAS1 FREM2 GDF6 HPSE2
15 mortality/aging MP:0010768 9.55 ACTG1 COL4A1 DNASE1 FOXC1 FRAS1 FREM2

Drugs & Therapeutics for Cakut

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
2
Nitrofurantoin Approved, Vet_approved Phase 3 67-20-9 5353830
3
Cefixime Approved, Investigational Phase 3 79350-37-1 5362065
4
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
5
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
6
Sulfamethoxazole Approved Phase 3 723-46-6 5329
7
Clavulanic acid Approved, Vet_approved Phase 3 58001-44-8 5280980
8
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
9 Folic Acid Antagonists Phase 3
10 Amoxicillin-Potassium Clavulanate Combination Phase 3
11 Antibiotics, Antitubercular Phase 3
12 Folate Phase 3
13 Vitamin B9 Phase 3
14 Anti-Bacterial Agents Phase 3
15 beta-Lactamase Inhibitors Phase 3
16 Anti-Infective Agents Phase 3
17 Antiprotozoal Agents Phase 3
18 Antiparasitic Agents Phase 3
19 Vitamin B Complex Phase 3
20 Antimalarials Phase 3
21 Trimethoprim, Sulfamethoxazole Drug Combination Phase 3
22 Cytochrome P-450 Enzyme Inhibitors Phase 3
23 Technetium Tc 99m Dimercaptosuccinic Acid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antibiotic Prophylaxis and Renal Damage In Congenital Abnormalities of the Kidney and Urinary Tract Active, not recruiting NCT02021006 Phase 3 nitrofurantoin;Amoxicillin-Potassium Clavulanate Combination;Trimethoprim/sulfamethoxazole;Cefixime
2 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
3 Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes Completed NCT00925379
4 Protocol for a Cohort Diagnostic Accuracy Study to Develop Prediction of Renal Parenchymal Damage and to Evaluate Accuracy of Renal Function in Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Recruiting NCT04537364

Search NIH Clinical Center for Cakut

Cochrane evidence based reviews: cakut

Genetic Tests for Cakut

Genetic tests related to Cakut:

# Genetic test Affiliating Genes
1 Congenital Anomaly of Kidney and Urinary Tract 28

Anatomical Context for Cakut

Organs/tissues related to Cakut:

MalaCards : Kidney, Heart, Bone, Uterus, Brain, Pituitary, Eye

Publications for Cakut

Articles related to Cakut:

(show top 50) (show all 681)
# Title Authors PMID Year
1
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. 62 5
32891193 2020
2
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). 62 5
32475988 2020
3
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 62 5
31230195 2019
4
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. 62 5
30143558 2018
5
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. 62 5
28381549 2017
6
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations. 62 5
28334964 2017
7
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 62 5
27657687 2017
8
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 62 5
26026792 2015
9
Rare heterozygous GDF6 variants in patients with renal anomalies. 5
32737436 2020
10
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency. 5
30692597 2019
11
Evaluation of screening with urine dipsticks and renal ultrasonography for 3-year-olds in Chiba City over 30 years. 62
36056980 2022
12
Baseline characteristics of participants enrolled in the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD). 62
35277754 2022
13
Fetal Therapy for Renal Anhydramnios. 62
36328603 2022
14
HOXA11 is another monogenic cause of congenital anomalies of the kidney and urinary tract-Reply. 62
36401625 2022
15
Maternal Chronic Disease and Congenital Anomalies of the Kidney and Urinary Tract in Offspring: A Japanese Cohort Study. 62
35439592 2022
16
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. 62
36414417 2022
17
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. 62
36352089 2022
18
Medium and Long-Term Clinical Outcomes of Kidney Transplantation in Patients With Prune Belly Syndrome: A Single-Centre Experience. 62
36049630 2022
19
A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case. 62
36318887 2022
20
A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3. 62
36371238 2022
21
Anatomy and embryology of congenital surgical anomalies: Congenital Anomalies of the Kidney and Urinary Tract. 62
36423515 2022
22
Urinary extracellular vesicles signature for diagnosis of kidney disease. 62
36439984 2022
23
The term CAKUT has outlived its usefulness: the case for the defense. 62
35867161 2022
24
The term CAKUT has outlived its usefulness: the case for the prosecution. 62
35575937 2022
25
The genetic basis of congenital anomalies of the kidney and urinary tract. 62
35122119 2022
26
Congenital malformations of the urinary tract: progression to chronic renal disease. 62
36217787 2022
27
Identification and functional interpretation of miRNAs affected by rare CNVs in CAKUT. 62
36273030 2022
28
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. 62
36185583 2022
29
A case of Potter sequence with WT1 mutation. 62
36227513 2022
30
Prenatal and Early Postnatal Outcomes for Fetuses with Anatomic or Functional Renal Agenesis. 62
36198283 2022
31
Factors associated with 1-year changes in serum fibroblast growth factor 23 levels in pediatric patients with chronic kidney disease. 62
35612637 2022
32
HOXA11 is another monogenic cause of congenital anomalies of the kidney and urinary tract. 62
36251073 2022
33
Health-related quality of life in adults after pediatric kidney failure in Switzerland. 62
36227439 2022
34
Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants-Active Drivers of Increased Disease or Associated Bystanders? 62
36103185 2022
35
Magnetic resonance urography: a practical approach to preparation, protocol and interpretation. 62
36149476 2022
36
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups. 62
36161467 2022
37
A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl. 62
36056295 2022
38
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. 62
34473308 2022
39
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2. 62
36066768 2022
40
The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants. 62
36103177 2022
41
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract. 62
36292572 2022
42
Hemostasis and oxidative stress in chronic kidney disease in children and adolescents. 62
35613472 2022
43
Pallister-Hall syndrome, GLI3, and kidney malformation. 62
36165461 2022
44
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. 62
36208064 2022
45
Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology. 62
35713730 2022
46
A study of the 20-year evolution of antimicrobial resistance patterns of pediatric urinary tract infections in a single center. 62
35739294 2022
47
Congenital Anomalies of the Kidneys and Urinary Tract. 62
36113935 2022
48
Single-Center Experience on Growth in Infants Born With End-Stage Kidney Disease. 62
36179955 2022
49
Early predictive factors for progression to kidney failure in infants with severe congenital anomalies of the kidney and urinary tract. 62
35951131 2022
50
Risk factors for childhood chronic kidney disease: a population-based study. 62
36018434 2022

Variations for Cakut

ClinVar genetic disease variations for Cakut:

5 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIFR NM_001127671.2(LIFR):c.1273_1276del (p.Val425fs) DEL Pathogenic
369648 rs1114167358 GRCh37: 5:38506022-38506025
GRCh38: 5:38505920-38505923
2 NRIP1 NM_003489.4(NRIP1):c.279del (p.Asp92_Trp93insTer) DEL Pathogenic
548653 rs1555879360 GRCh37: 21:16340235-16340235
GRCh38: 21:14967914-14967914
3 SRGAP1 NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr) SNV Pathogenic
684621 rs1208074975 GRCh37: 12:64456701-64456701
GRCh38: 12:64062921-64062921
4 SRGAP1 NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr) SNV Pathogenic
684622 rs1592332125 GRCh37: 12:64505615-64505615
GRCh38: 12:64111835-64111835
5 SLIT2 NM_004787.4(SLIT2):c.292G>A (p.Ala98Thr) SNV Pathogenic
684623 rs1577330805 GRCh37: 4:20259531-20259531
GRCh38: 4:20257908-20257908
6 SLIT2 NM_004787.4(SLIT2):c.1697G>A (p.Ser566Asn) SNV Pathogenic
633691 rs200151302 GRCh37: 4:20535203-20535203
GRCh38: 4:20533580-20533580
7 SLIT2 NM_004787.4(SLIT2):c.2712A>T (p.Lys904Asn) SNV Pathogenic
684624 rs1008555507 GRCh37: 4:20555578-20555578
GRCh38: 4:20553955-20553955
8 ROBO1 NM_002941.4(ROBO1):c.1342+1G>A SNV Pathogenic
996034 rs2081036277 GRCh37: 3:78734895-78734895
GRCh38: 3:78685745-78685745
9 ROBO1 NM_002941.4(ROBO1):c.2882+1G>T SNV Pathogenic
996098 rs1706269517 GRCh37: 3:78695297-78695297
GRCh38: 3:78646147-78646147
10 HPSE2 NM_021828.5(HPSE2):c.457C>T (p.Arg153Ter) SNV Pathogenic
89 rs267606865 GRCh37: 10:100904148-100904148
GRCh38: 10:99144391-99144391
11 HPSE2 NM_021828.5(HPSE2):c.1099-2A>G SNV Pathogenic
1344620 GRCh37: 10:100380467-100380467
GRCh38: 10:98620710-98620710
12 NPHP1 NM_001128178.3(NPHP1):c.1636del (p.Ser546fs) DEL Pathogenic
1344621 GRCh37: 2:110889262-110889262
GRCh38: 2:110131685-110131685
13 ROBO1 NM_002941.4(ROBO1):c.4156G>T (p.Gly1386Ter) SNV Pathogenic
1077087 GRCh37: 3:78666911-78666911
GRCh38: 3:78617761-78617761
14 ROBO1 NM_002941.4(ROBO1):c.687C>G (p.Tyr229Ter) SNV Pathogenic
1077089 GRCh37: 3:78767004-78767004
GRCh38: 3:78717854-78717854
15 ROBO1 NM_002941.4(ROBO1):c.2630_2631del (p.Pro877fs) DEL Pathogenic
1321867 GRCh37: 3:78701063-78701064
GRCh38: 3:78651913-78651914
16 ACTG1 NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) SNV Pathogenic
29585 rs281875326 GRCh37: 17:79478552-79478552
GRCh38: 17:81511526-81511526
17 GDF6 NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) SNV Pathogenic
Pathogenic
8371 rs121909352 GRCh37: 8:97157413-97157413
GRCh38: 8:96145185-96145185
18 PAX2 NM_000278.5(PAX2):c.76dup (p.Val26fs) DUP Pathogenic
156297 rs75462234 GRCh37: 10:102509528-102509529
GRCh38: 10:100749771-100749772
19 TRAP1, DNASE1 NM_016292.3(TRAP1):c.1406G>A (p.Arg469His) SNV Pathogenic
559147 rs144787542 GRCh37: 16:3714438-3714438
GRCh38: 16:3664437-3664437
20 HNF1B NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu) SNV Pathogenic
635698 GRCh37: 17:36099532-36099532
GRCh38: 17:37739541-37739541
21 FRAS1 NM_025074.7(FRAS1):c.4843+2T>C SNV Pathogenic
988192 rs370018000 GRCh37: 4:79350382-79350382
GRCh38: 4:78429228-78429228
22 FRAS1 NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) SNV Pathogenic
235484 rs745597204 GRCh37: 4:79394620-79394620
GRCh38: 4:78473466-78473466
23 LIFR NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) SNV Likely Pathogenic
353605 rs3729751 GRCh37: 5:38481703-38481703
GRCh38: 5:38481601-38481601
24 LIFR NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) SNV Likely Pathogenic
235543 rs79040751 GRCh37: 5:38493836-38493836
GRCh38: 5:38493734-38493734
25 TRPS1 NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) SNV Likely Pathogenic
5578 rs121908436 GRCh37: 8:116430586-116430586
GRCh38: 8:115418358-115418358
26 COL4A1 NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) SNV Likely Pathogenic
884075 rs775563545 GRCh37: 13:110830264-110830264
GRCh38: 13:110177917-110177917
27 DHX8, ETV4 NM_001079675.5(ETV4):c.1244G>A (p.Arg415His) SNV Likely Pathogenic
1344611 GRCh37: 17:41606098-41606098
GRCh38: 17:43528730-43528730
28 FREM2 NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) SNV Likely Pathogenic
311971 rs143044921 GRCh37: 13:39265512-39265512
GRCh38: 13:38691375-38691375
29 COL4A1 NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) SNV Likely Pathogenic
807047 rs751220553 GRCh37: 13:110866311-110866311
GRCh38: 13:110213964-110213964
30 COL4A1 NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser) SNV Likely Pathogenic
872456 rs1877181545 GRCh37: 13:110815846-110815846
GRCh38: 13:110163499-110163499
31 ACE NM_000789.4(ACE):c.1709+5G>C SNV Likely Pathogenic
988100 rs1198993903 GRCh37: 17:61561337-61561337
GRCh38: 17:63483976-63483976
32 FREM2 NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) SNV Likely Pathogenic
435265 rs61978626 GRCh37: 13:39435583-39435583
GRCh38: 13:38861446-38861446
33 NPHP4 NM_015102.5(NPHP4):c.3983C>T (p.Pro1328Leu) SNV Likely Pathogenic
499260 rs199583130 GRCh37: 1:5924411-5924411
GRCh38: 1:5864351-5864351
34 SALL1 NM_002968.3(SALL1):c.703G>A (p.Ala235Thr) SNV Likely Pathogenic
771794 rs761053549 GRCh37: 16:51175430-51175430
GRCh38: 16:51141519-51141519
35 CTU2 NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys) SNV Likely Pathogenic
1344612 GRCh37: 16:88781314-88781314
GRCh38: 16:88714906-88714906
36 FAT4 NM_001291303.3(FAT4):c.9279A>C (p.Gln3093His) SNV Likely Pathogenic
813916 rs769424345 GRCh37: 4:126371444-126371444
GRCh38: 4:125450289-125450289
37 ROBO1 NM_002941.4(ROBO1):c.2758C>T (p.Arg920Ter) SNV Likely Pathogenic
1077090 GRCh37: 3:78700936-78700936
GRCh38: 3:78651786-78651786
38 ROBO1 NM_002941.4(ROBO1):c.4015_4018del (p.Ala1339fs) DEL Likely Pathogenic
1321866 GRCh37: 3:78667049-78667052
GRCh38: 3:78617899-78617902
39 ROBO1 NM_002941.4(ROBO1):c.850G>T (p.Glu284Ter) SNV Likely Pathogenic
1077088 GRCh37: 3:78766492-78766492
GRCh38: 3:78717342-78717342
40 COL4A1 NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) SNV Likely Pathogenic
522668 rs747585517 GRCh37: 13:110838822-110838822
GRCh38: 13:110186475-110186475
41 COL4A1 NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg) SNV Likely Pathogenic
1027964 rs781655700 GRCh37: 13:110822932-110822932
GRCh38: 13:110170585-110170585
42 ZMYM2 NM_197968.4(ZMYM2):c.1618C>T (p.Arg540Ter) SNV Likely Pathogenic
1264312 GRCh37: 13:20600785-20600785
GRCh38: 13:20026645-20026645
43 ZMYM2 NM_197968.4(ZMYM2):c.1607del (p.Cys536fs) DEL Likely Pathogenic
1264313 GRCh37: 13:20600774-20600774
GRCh38: 13:20026634-20026634
44 ZMYM2 NM_197968.4(ZMYM2):c.766_767dup (p.Val256_Gly257insTer) DUP Likely Pathogenic
1264314 GRCh37: 13:20567977-20567978
GRCh38: 13:19993837-19993838
45 ZMYM2 NM_197968.4(ZMYM2):c.2434_2437del (p.Lys812fs) DEL Likely Pathogenic
1264315 GRCh37: 13:20625712-20625715
GRCh38: 13:20051572-20051575
46 ZMYM2 NM_197968.4(ZMYM2):c.2494-1G>A SNV Likely Pathogenic
1264316 GRCh37: 13:20632714-20632714
GRCh38: 13:20058574-20058574
47 ZMYM2 NM_197968.4(ZMYM2):c.3130_3131dup (p.Gly1045fs) DUP Likely Pathogenic
1264317 GRCh37: 13:20638676-20638677
GRCh38: 13:20064536-20064537
48 ZMYM2 NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter) SNV Likely Pathogenic
1325743 GRCh37: 13:20625618-20625618
GRCh38: 13:20051478-20051478
49 COL4A1 NM_001845.6(COL4A1):c.2512A>G (p.Met838Val) SNV Likely Pathogenic
1344675 GRCh37: 13:110830525-110830525
GRCh38: 13:110178178-110178178
50 COL4A1 NM_001845.6(COL4A1):c.2782G>C (p.Asp928His) SNV Likely Pathogenic
1344676 GRCh37: 13:110829319-110829319
GRCh38: 13:110176972-110176972

Copy number variations for Cakut from CNVD:

6 (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 GPR89B 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 H3C14 Congenital anomalies of the kidney and urinary tract
22 18578 1 146599106 146628218 Copy number H4C14 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 NBPF15 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 CDK11A 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 SNRNP40 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 MOB2 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 TAS2R20 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 TAS2R31 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 12)
# Name GO ID Score Top Affiliating Genes
1 branching involved in ureteric bud morphogenesis GO:0001658 9.91 SALL1 PAX2 GREB1L
2 negative regulation of chemokine-mediated signaling pathway GO:0070100 9.81 SLIT2 ROBO1
3 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.8 SALL1 PAX2
4 ureteric bud development GO:0001657 9.8 SLIT2 SALL1 FOXC1
5 ureter development GO:0072189 9.78 TBX18 PAX2
6 pronephros development GO:0048793 9.76 PAX2 HNF1B
7 Roundabout signaling pathway GO:0035385 9.67 ROBO1 SLIT2
8 mesonephric duct development GO:0072177 9.58 HNF1B GREB1L
9 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.56 PAX2 HNF1B
10 nephric duct formation GO:0072179 9.33 PAX2 HNF1B
11 kidney development GO:0001822 9.32 SALL1 HNF1B GREB1L FREM2 FOXC1
12 chemorepulsion involved in postnatal olfactory bulb interneuron migration GO:0021836 9.26 SLIT2 ROBO1

Sources for Cakut

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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