CAKUT1
MCID: CNG509
MIFTS: 37

Congenital Anomalies of Kidney and Urinary Tract 1 (CAKUT1)

Categories: Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract 1

MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 1:

Name: Congenital Anomalies of Kidney and Urinary Tract 1 57 28 5
Renal Hypodysplasia, Nonsyndromic, 1 57 73 12 71
Cakut1 57 11 73 14
Congenital Anomalies of the Kidney and Urinary Tract 1 11 73
Rhdns1 57 73
Kidney and Urinary Tract, Anomalies, Congenital, Susceptibility to, Type 1 38
Non-Syndromic Renal Hypodysplasia 1 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incomplete penetrance
onset at birth
diagnosis in early childhood
variable abnormalities


Classifications:



External Ids:

Disease Ontology 11 DOID:0080206
OMIM® 57 610805
OMIM Phenotypic Series 57 PS610805
MeSH 43 D014564
MedGen 40 C1835826
SNOMED-CT via HPO 69 197811007 433146000 95575002
UMLS 71 C1835826

Summaries for Congenital Anomalies of Kidney and Urinary Tract 1

OMIM®: 57 Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (120330) (summary by Renkema et al., 2011). (610805) (Updated 08-Dec-2022)

MalaCards based summary: Congenital Anomalies of Kidney and Urinary Tract 1, also known as renal hypodysplasia, nonsyndromic, 1, is related to cakut and diabetes insipidus, nephrogenic, 2, autosomal. An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 1 is DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase), and among its related pathways/superpathways are Translation of Structural Proteins and Calnexin/calreticulin cycle. The drugs Amoxicillin and Nitrofurantoin have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and ureteropelvic junction obstruction

UniProtKB/Swiss-Prot: 73 A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.

Disease Ontology: 11 A CAKUT that has material basis in heterozygous mutation in the DSTYK gene on chromosome 1q32.

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 1

Graphical network of the top 20 diseases related to Congenital Anomalies of Kidney and Urinary Tract 1:



Diseases related to Congenital Anomalies of Kidney and Urinary Tract 1

Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract 1

Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 30 HP:0000076
2 ureteropelvic junction obstruction 30 HP:0000074
3 stage 5 chronic kidney disease 30 HP:0003774

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Kidneys:
ureteropelvic junction obstruction
congenital anomalies of the kidney and urinary tract (cakut)
chronic renal failure
solitary kidney
renal hypodysplasia

Clinical features from OMIM®:

610805 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.28 DSTYK PRKCSH
2 Decreased viability GR00221-A-2 9.28 DSTYK PRKCSH
3 Decreased viability GR00221-A-3 9.28 PRKCSH
4 Decreased viability GR00221-A-4 9.28 DSTYK
5 Decreased viability GR00249-S 9.28 PRKCSH
6 Decreased viability GR00301-A 9.28 DSTYK PRKCSH

Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract 1

Drugs for Congenital Anomalies of Kidney and Urinary Tract 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# 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

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 Renal HYPODYSPLASIA;Study of Familial Cases and Search for Predisposing Genes Completed NCT00925379

Search NIH Clinical Center for Congenital Anomalies of Kidney and Urinary Tract 1

Genetic Tests for Congenital Anomalies of Kidney and Urinary Tract 1

Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract 1:

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

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 1

Organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 1:

MalaCards : Kidney
ODiseA: Kidney

Publications for Congenital Anomalies of Kidney and Urinary Tract 1

Articles related to Congenital Anomalies of Kidney and Urinary Tract 1:

(show all 14)
# Title Authors PMID Year
1
Mutations in DSTYK and dominant urinary tract malformations. 57 5
23862974 2013
2
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). 57
22121240 2011
3
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 57
17273976 2007
4
Non-allelic heterogeneity in familial unilateral renal adysplasia. 57
12381441 2002
5
Hereditary renal adysplasia in a three generations family. 57
10546096 1999
6
Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. 57
1967903 1990
7
Dominantly inherited renal adysplasia. 57
3591828 1987
8
Hypertension and proteinuria: long-term sequelae of uninephrectomy in humans. 57
6381857 1984
9
Focal and segmental glomerulosclerosis and porteinuria associated with unilateral renal agenesis. 57
7062725 1982
10
Heterogeneity of bilateral renal agenesis. 57
844022 1977
11
Familial bilateral renal agenesis and hereditary renal adysplasia. 57
4744207 1973
12
Unilateral renal agenesis in two siblings. Case report. 57
13900618 1962
13
Two Cases of Congenital Absence of One Kidney in Same Family. 57
20785173 1943
14
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. 62
20007758 2010

Variations for Congenital Anomalies of Kidney and Urinary Tract 1

ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 1:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSTYK NM_015375.3(DSTYK):c.24G>A (p.Trp8Ter) SNV Pathogenic
60685 rs879255515 GRCh37: 1:205180640-205180640
GRCh38: 1:205211512-205211512
2 DSTYK NM_015375.3(DSTYK):c.1384C>T (p.Arg462Ter) SNV Pathogenic
1031910 rs77626160 GRCh37: 1:205133024-205133024
GRCh38: 1:205163896-205163896
3 DSTYK NM_015375.3(DSTYK):c.655-3C>T SNV Pathogenic
60686 rs554197975 GRCh37: 1:205138963-205138963
GRCh38: 1:205169835-205169835
4 DSTYK NM_015375.3(DSTYK):c.1053dup (p.Gln352fs) DUP Likely Pathogenic
1333318 GRCh37: 1:205138561-205138562
GRCh38: 1:205169433-205169434
5 UPK3A NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu) SNV Uncertain Significance
873 rs121918186 GRCh37: 22:45691554-45691554
GRCh38: 22:45295673-45295673
6 DSTYK NM_015375.3(DSTYK):c.1819-3C>T SNV Uncertain Significance
224360 rs367692056 GRCh37: 1:205130518-205130518
GRCh38: 1:205161390-205161390
7 DSTYK NM_015375.3(DSTYK):c.1060C>G (p.Arg354Gly) SNV Uncertain Significance
1298379 GRCh37: 1:205138555-205138555
GRCh38: 1:205169427-205169427
8 UPK3A NM_006953.4(UPK3A):c.605G>A (p.Gly202Asp) SNV Uncertain Significance
875 rs121918187 GRCh37: 22:45689095-45689095
GRCh38: 22:45293214-45293214
9 DSTYK NM_015375.3(DSTYK):c.654+1G>A SNV Uncertain Significance
60684 rs201091809 GRCh37: 1:205156545-205156545
GRCh38: 1:205187417-205187417
10 DSTYK NM_015375.3(DSTYK):c.358G>A (p.Asp120Asn) SNV Uncertain Significance
224357 rs373780579 GRCh37: 1:205156842-205156842
GRCh38: 1:205187714-205187714
11 DSTYK NM_015375.3(DSTYK):c.1253A>G (p.Asp418Gly) SNV Uncertain Significance
224361 rs555607162 GRCh37: 1:205138362-205138362
GRCh38: 1:205169234-205169234
12 DSTYK NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu) SNV Uncertain Significance
224358 rs202068245 GRCh37: 1:205180611-205180611
GRCh38: 1:205211483-205211483
13 DSTYK NM_015375.3(DSTYK):c.2368C>T (p.Arg790Cys) SNV Uncertain Significance
224359 rs773130126 GRCh37: 1:205119907-205119907
GRCh38: 1:205150779-205150779
14 DSTYK NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln) SNV Uncertain Significance
224356 rs148815814 GRCh37: 1:205131207-205131207
GRCh38: 1:205162079-205162079
15 DSTYK NM_015375.3(DSTYK):c.2605G>T (p.Ala869Ser) SNV Uncertain Significance
828135 rs1574742379 GRCh37: 1:205116871-205116871
GRCh38: 1:205147743-205147743
16 DSTYK NM_015375.3(DSTYK):c.1060C>T (p.Arg354Cys) SNV Uncertain Significance
829969 rs573628666 GRCh37: 1:205138555-205138555
GRCh38: 1:205169427-205169427
17 SRGAP1 NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr) SNV Uncertain Significance
684622 rs1592332125 GRCh37: 12:64505615-64505615
GRCh38: 12:64111835-64111835
18 DSTYK NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg) SNV Benign
260657 rs3851294 GRCh37: 1:205130413-205130413
GRCh38: 1:205161285-205161285
19 DSTYK NM_015375.3(DSTYK):c.2028C>T (p.Phe676=) SNV Benign
260658 rs1062715 GRCh37: 1:205129319-205129319
GRCh38: 1:205160191-205160191
20 DSTYK NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) SNV Benign
60687 rs200780796 GRCh37: 1:205180578-205180578
GRCh38: 1:205211450-205211450

UniProtKB/Swiss-Prot genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 1:

73
# Symbol AA change Variation ID SNP ID
1 DSTYK p.Asp200Gly VAR_071325
2 DSTYK p.Ser843Leu VAR_071326 rs778586547

Expression for Congenital Anomalies of Kidney and Urinary Tract 1

Search GEO for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 1.

Pathways for Congenital Anomalies of Kidney and Urinary Tract 1

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 1

Cellular components related to Congenital Anomalies of Kidney and Urinary Tract 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.43 PRKCSH GANAB DNAJB11
2 glucosidase II complex GO:0017177 8.92 PRKCSH GANAB

Biological processes related to Congenital Anomalies of Kidney and Urinary Tract 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 N-glycan processing GO:0006491 8.92 PRKCSH GANAB

Sources for Congenital Anomalies of Kidney and Urinary Tract 1

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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