CAKUT3
MCID: CNG540
MIFTS: 17

Congenital Anomalies of Kidney and Urinary Tract 3 (CAKUT3)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

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 72 29 6
Cakut3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
one family has been reported (last curated january 2019)
variable age at diagnosis (onset usually in childhood)

Inheritance:
autosomal dominant


HPO:

31
congenital anomalies of kidney and urinary tract 3:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM® 57 618270
OMIM Phenotypic Series 57 PS610805
MeSH 44 D014564

Summaries for Congenital Anomalies of Kidney and Urinary Tract 3

UniProtKB/Swiss-Prot : 72 Congenital anomalies of kidney and urinary tract 3: 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:

31
# Description HPO Frequency HPO Source Accession
1 ectopic kidney 31 HP:0000086
2 vesicoureteral reflux 31 HP:0000076
3 hydronephrosis 31 HP:0000126
4 renal cyst 31 HP:0000107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Ureters:
dilated ureters

Genitourinary Kidneys:
hydronephrosis
renal cysts
renal ectopia
renal hypodysplasia

Clinical features from OMIM®:

618270 (Updated 20-May-2021)

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 29 NRIP1

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 3

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

40
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. 6 57
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:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NRIP1 NM_003489.4(NRIP1):c.279del (p.Asp92_Trp93insTer) Deletion 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 GRCh37: 21:16338854-16338854
GRCh38: 21:14966533-14966533
3 NRIP1 NM_003489.4(NRIP1):c.3455C>T (p.Thr1152Met) SNV Likely benign 734220 rs148814531 GRCh37: 21:16337059-16337059
GRCh38: 21:14964738-14964738

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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