CAKUT3
MCID: CNG540
MIFTS: 15

Congenital Anomalies of Kidney and Urinary Tract 3 (CAKUT3)

Categories: Fetal diseases, 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 58 76 6
Cakut3 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
congenital anomalies of kidney and urinary tract 3:
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM 58 618270
MeSH 45 D014564
MedGen 43 CN258052
SNOMED-CT via HPO 70 16507009 43064006

Summaries for Congenital Anomalies of Kidney and Urinary Tract 3

UniProtKB/Swiss-Prot : 76 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 hydronephrosis

Description from OMIM: 618270

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:

33
# Description HPO Frequency HPO Source Accession
1 ectopic kidney 33 HP:0000086
2 hydronephrosis 33 HP:0000126
3 renal cyst 33 HP:0000107

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Bladder:
vesicoureteral reflux

Genitourinary Ureters:
dilated ureters

Genitourinary Kidneys:
hydronephrosis
renal cysts
renal ectopia
renal hypodysplasia

Clinical features from OMIM:

618270

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

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 3

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

42
Kidney

Publications for Congenital Anomalies of Kidney and Urinary Tract 3

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

# Title Authors Year
1
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. ( 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 Variation Type Significance SNP ID Assembly Location
1 NRIP1 NM_003489.4(NRIP1): c.279delG (p.Trp93Terfs) deletion Pathogenic rs1555879360 GRCh38 Chromosome 21, 14967914: 14967914
2 NRIP1 NM_003489.4(NRIP1): c.279delG (p.Trp93Terfs) deletion Pathogenic rs1555879360 GRCh37 Chromosome 21, 16340235: 16340235

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....