CAKUT1
MCID: CNG509
MIFTS: 25

Congenital Anomalies of Kidney and Urinary Tract 1 (CAKUT1)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

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
Renal Hypodysplasia, Nonsyndromic, 1 57 75 13 73
Cakut1 57 12 75
Congenital Anomalies of Kidney and Urinary Tract 1, Susceptibility to 29 6
Congenital Anomalies of the Kidney and Urinary Tract 1 12 75
Rhdns1 57 75
Kidney and Urinary Tract, Anomalies, Congenital, Susceptibility to, Type 1 ) 40
Renal Hypodysplasia, Nonsyndromic, 1; Rhdns1 57
Non-Syndromic Renal Hypodysplasia 1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
onset at birth
diagnosis in early childhood
variable abnormalities


HPO:

32
congenital anomalies of kidney and urinary tract 1:
Onset and clinical course incomplete penetrance congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610805
Disease Ontology 12 DOID:0080206
MeSH 44 D014564
UMLS 73 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)

MalaCards based summary : Congenital Anomalies of Kidney and Urinary Tract 1, also known as renal hypodysplasia, nonsyndromic, 1, is related to cakut and perrault syndrome 1. An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 1 is DSTYK (Dual Serine/Threonine And Tyrosine Protein Kinase). Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and ureteropelvic junction obstruction

Disease Ontology : 12 A CAKUT that has_material_ basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32.

UniProtKB/Swiss-Prot : 75 Congenital anomalies of the kidney and urinary tract 1: 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.

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 1

Diseases in the Congenital Anomalies of Kidney and Urinary Tract 2 family:

Congenital Anomalies of Kidney and Urinary Tract 1

Diseases related to Congenital Anomalies of Kidney and Urinary Tract 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cakut 11.4
2 perrault syndrome 1 11.1
3 renal hypodysplasia/aplasia 3 9.7 DSTYK UPK3A

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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Bladder:
vesicoureteral reflux
ureteropelvic junction obstruction

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


Clinical features from OMIM:

610805

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

32
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 HP:0000076
2 ureteropelvic junction obstruction 32 HP:0000074
3 stage 5 chronic kidney disease 32 HP:0003774

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 8.8 UPK3A
2 Decreased homologous recombination repair frequency GR00236-A-2 8.8 DSTYK UPK3A

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

Search Clinical Trials , 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, Susceptibility to 29 DSTYK

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 1

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

41
Kidney

Publications for Congenital Anomalies of Kidney and Urinary Tract 1

Variations for Congenital Anomalies of Kidney and Urinary Tract 1

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

75
# Symbol AA change Variation ID SNP ID
1 DSTYK p.Asp200Gly VAR_071325
2 DSTYK p.Ser843Leu VAR_071326 rs778586547

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 UPK3A NM_006953.3(UPK3A): c.818C> T (p.Pro273Leu) single nucleotide variant Uncertain significance rs121918186 GRCh37 Chromosome 22, 45691554: 45691554
2 UPK3A NM_006953.3(UPK3A): c.818C> T (p.Pro273Leu) single nucleotide variant Uncertain significance rs121918186 GRCh38 Chromosome 22, 45295673: 45295673
3 UPK3A NM_006953.3(UPK3A): c.605G> A (p.Gly202Asp) single nucleotide variant Uncertain significance rs121918187 GRCh37 Chromosome 22, 45689095: 45689095
4 UPK3A NM_006953.3(UPK3A): c.605G> A (p.Gly202Asp) single nucleotide variant Uncertain significance rs121918187 GRCh38 Chromosome 22, 45293214: 45293214
5 DSTYK NM_015375.2(DSTYK): c.654+1G> A single nucleotide variant Uncertain significance rs201091809 GRCh37 Chromosome 1, 205156545: 205156545
6 DSTYK NM_015375.2(DSTYK): c.654+1G> A single nucleotide variant Uncertain significance rs201091809 GRCh38 Chromosome 1, 205187417: 205187417
7 DSTYK NM_015375.2(DSTYK): c.24G> A (p.Trp8Ter) single nucleotide variant Pathogenic rs879255515 GRCh37 Chromosome 1, 205180640: 205180640
8 DSTYK NM_015375.2(DSTYK): c.24G> A (p.Trp8Ter) single nucleotide variant Pathogenic rs879255515 GRCh38 Chromosome 1, 205211512: 205211512
9 DSTYK NM_015375.2(DSTYK): c.655-3C> T single nucleotide variant Pathogenic rs554197975 GRCh37 Chromosome 1, 205138963: 205138963
10 DSTYK NM_015375.2(DSTYK): c.655-3C> T single nucleotide variant Pathogenic rs554197975 GRCh38 Chromosome 1, 205169835: 205169835
11 DSTYK NM_015375.2(DSTYK): c.86G> A (p.Arg29Gln) single nucleotide variant Pathogenic rs200780796 GRCh37 Chromosome 1, 205180578: 205180578
12 DSTYK NM_015375.2(DSTYK): c.86G> A (p.Arg29Gln) single nucleotide variant Pathogenic rs200780796 GRCh38 Chromosome 1, 205211450: 205211450
13 DSTYK NM_015375.2(DSTYK): c.2368C> T (p.Arg790Cys) single nucleotide variant Uncertain significance rs773130126 GRCh37 Chromosome 1, 205119907: 205119907
14 DSTYK NM_015375.2(DSTYK): c.2368C> T (p.Arg790Cys) single nucleotide variant Uncertain significance rs773130126 GRCh38 Chromosome 1, 205150779: 205150779
15 DSTYK NM_199462.2(DSTYK): c.1819-3C> T single nucleotide variant Uncertain significance rs367692056 GRCh37 Chromosome 1, 205130518: 205130518
16 DSTYK NM_199462.2(DSTYK): c.1819-3C> T single nucleotide variant Uncertain significance rs367692056 GRCh38 Chromosome 1, 205161390: 205161390
17 DSTYK NM_199462.2(DSTYK): c.1775G> A (p.Arg592Gln) single nucleotide variant Uncertain significance rs148815814 GRCh37 Chromosome 1, 205131207: 205131207
18 DSTYK NM_199462.2(DSTYK): c.1775G> A (p.Arg592Gln) single nucleotide variant Uncertain significance rs148815814 GRCh38 Chromosome 1, 205162079: 205162079
19 DSTYK NM_015375.2(DSTYK): c.1253A> G (p.Asp418Gly) single nucleotide variant Uncertain significance rs555607162 GRCh37 Chromosome 1, 205138362: 205138362
20 DSTYK NM_015375.2(DSTYK): c.1253A> G (p.Asp418Gly) single nucleotide variant Uncertain significance rs555607162 GRCh38 Chromosome 1, 205169234: 205169234
21 DSTYK NM_015375.2(DSTYK): c.358G> A (p.Asp120Asn) single nucleotide variant Uncertain significance rs373780579 GRCh38 Chromosome 1, 205187714: 205187714
22 DSTYK NM_015375.2(DSTYK): c.358G> A (p.Asp120Asn) single nucleotide variant Uncertain significance rs373780579 GRCh37 Chromosome 1, 205156842: 205156842
23 DSTYK NM_199462.2(DSTYK): c.53C> T (p.Pro18Leu) single nucleotide variant Uncertain significance rs202068245 GRCh38 Chromosome 1, 205211483: 205211483
24 DSTYK NM_199462.2(DSTYK): c.53C> T (p.Pro18Leu) single nucleotide variant Uncertain significance rs202068245 GRCh37 Chromosome 1, 205180611: 205180611

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 apical plasma membrane GO:0016324 8.62 DSTYK UPK3A

Sources for Congenital Anomalies of Kidney and Urinary Tract 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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