CAKUT1
MCID: CNG509
MIFTS: 29

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 74 13 72
Cakut1 57 12 74
Congenital Anomalies of Kidney and Urinary Tract 1, Susceptibility to 29 6
Congenital Anomalies of the Kidney and Urinary Tract 1 12 74
Rhdns1 57 74
Kidney and Urinary Tract, Anomalies, Congenital, Susceptibility to, Type 1 40
Renal Hypodysplasia, Nonsyndromic, 1; Rhdns1 57
Non-Syndromic Renal Hypodysplasia 1 74

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
onset at birth
diagnosis in early childhood
variable abnormalities

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080206
MeSH 44 D014564
MedGen 42 C1835826
UMLS 72 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 renal hypodysplasia/aplasia 3. 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 : 74 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 Congenital Anomalies of Kidney and Urinary Tract 3

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 11.5
2 renal hypodysplasia/aplasia 3 9.2 UPK3A DSTYK

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

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

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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, 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

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

(show all 17)
# Title Authors PMID Year
1
Mutations in DSTYK and dominant urinary tract malformations. 8 71
23862974 2013
2
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. 8 71
17273976 2007
3
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 71
28566479 2017
4
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). 8
22121240 2011
5
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. 71
16731295 2006
6
De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. 71
15888565 2005
7
Non-allelic heterogeneity in familial unilateral renal adysplasia. 8
12381441 2002
8
Hereditary renal adysplasia in a three generations family. 8
10546096 1999
9
Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia. 8
1967903 1990
10
Dominantly inherited renal adysplasia. 8
3591828 1987
11
Hypertension and proteinuria: long-term sequelae of uninephrectomy in humans. 8
6381857 1984
12
Focal and segmental glomerulosclerosis and porteinuria associated with unilateral renal agenesis. 8
7062725 1982
13
Heterogeneity of bilateral renal agenesis. 8
844022 1977
14
Familial bilateral renal agenesis and hereditary renal adysplasia. 8
4744207 1973
15
Unilateral renal agenesis in two siblings. Case report. 8
13900618 1962
16
Two Cases of Congenital Absence of One Kidney in Same Family. 8
20785173 1943
17
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. 38
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:

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

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

74
# 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 apical plasma membrane GO:0016324 8.62 UPK3A DSTYK

Sources for Congenital Anomalies of Kidney and Urinary Tract 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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