CAKUT3
MCID: CNG540
MIFTS: 18

Congenital Anomalies of Kidney and Urinary Tract 3 (CAKUT3)

Categories: Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract 3

MalaCards integrated aliases for Congenital Anomalies of Kidney and Urinary Tract 3:

Name: Congenital Anomalies of Kidney and Urinary Tract 3 57 73 28 5 38
Cakut3 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable expressivity
incomplete penetrance
one family has been reported (last curated january 2019)
variable age at diagnosis (onset usually in childhood)


HPO:

30
congenital anomalies of kidney and urinary tract 3:
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM® 57 618270
OMIM Phenotypic Series 57 PS610805
MeSH 43 D014564
SNOMED-CT via HPO 69 16507009 197811007 43064006

Summaries for Congenital Anomalies of Kidney and Urinary Tract 3

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. CAKUT3 inheritance is autosomal dominant.

MalaCards based summary: Congenital Anomalies of Kidney and Urinary Tract 3, is also known as cakut3. An important gene associated with Congenital Anomalies of Kidney and Urinary Tract 3 is NRIP1 (Nuclear Receptor Interacting Protein 1). Affiliated tissues include kidney, and related phenotypes are ectopic kidney and vesicoureteral reflux

More information from OMIM: 618270 PS610805

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 3

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

Symptoms & Phenotypes for Congenital Anomalies of Kidney and Urinary Tract 3

Human phenotypes related to Congenital Anomalies of Kidney and Urinary Tract 3:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectopic kidney 30 HP:0000086
2 vesicoureteral reflux 30 HP:0000076
3 hydronephrosis 30 HP:0000126
4 renal cyst 30 HP:0000107

Symptoms via clinical synopsis from OMIM®:

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

Genitourinary Ureters:
dilated ureters

Genitourinary Kidneys:
hydronephrosis
renal cysts
renal ectopia
renal hypodysplasia

Clinical features from OMIM®:

618270 (Updated 08-Dec-2022)

Drugs & Therapeutics for Congenital Anomalies of Kidney and Urinary Tract 3

Search Clinical Trials, NIH Clinical Center for Congenital Anomalies of Kidney and Urinary Tract 3

Genetic Tests for Congenital Anomalies of Kidney and Urinary Tract 3

Genetic tests related to Congenital Anomalies of Kidney and Urinary Tract 3:

# Genetic test Affiliating Genes
1 Congenital Anomalies of Kidney and Urinary Tract 3 28 NRIP1

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 3

Organs/tissues related to Congenital Anomalies of Kidney and Urinary Tract 3:

MalaCards : Kidney
ODiseA: Kidney

Publications for Congenital Anomalies of Kidney and Urinary Tract 3

Articles related to Congenital Anomalies of Kidney and Urinary Tract 3:

# Title Authors PMID Year
1
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. 57 5
28381549 2017

Variations for Congenital Anomalies of Kidney and Urinary Tract 3

ClinVar genetic disease variations for Congenital Anomalies of Kidney and Urinary Tract 3:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NRIP1 NM_003489.4(NRIP1):c.279del (p.Asp92_Trp93insTer) DEL Pathogenic
548653 rs1555879360 GRCh37: 21:16340235-16340235
GRCh38: 21:14967914-14967914
2 NRIP1 NM_003489.4(NRIP1):c.1660C>T (p.Pro554Ser) SNV Uncertain Significance
992908 rs756522136 GRCh37: 21:16338854-16338854
GRCh38: 21:14966533-14966533
3 NRIP1 NM_003489.4(NRIP1):c.2227G>A (p.Glu743Lys) SNV Uncertain Significance
1339141 GRCh37: 21:16338287-16338287
GRCh38: 21:14965966-14965966
4 NRIP1 NM_003489.4(NRIP1):c.1868C>T (p.Ala623Val) SNV Uncertain Significance
1339181 GRCh37: 21:16338646-16338646
GRCh38: 21:14966325-14966325
5 NRIP1 NM_003489.4(NRIP1):c.3455C>T (p.Thr1152Met) SNV Likely Benign
734220 rs148814531 GRCh37: 21:16337059-16337059
GRCh38: 21:14964738-14964738
6 NRIP1 NM_003489.4(NRIP1):c.225G>A (p.Gly75=) SNV Benign
1326992 GRCh37: 21:16340289-16340289
GRCh38: 21:14967968-14967968

Expression for Congenital Anomalies of Kidney and Urinary Tract 3

Search GEO for disease gene expression data for Congenital Anomalies of Kidney and Urinary Tract 3.

Pathways for Congenital Anomalies of Kidney and Urinary Tract 3

GO Terms for Congenital Anomalies of Kidney and Urinary Tract 3

Sources for Congenital Anomalies of Kidney and Urinary Tract 3

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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