Congenital Anomalies of Kidney and Urinary Tract 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618270

OMIM Phenotypic Series ⁵⁷ PS610805

MeSH ⁴⁴ D014564

MedGen ⁴¹ C4748921 CN258052

SNOMED-CT via HPO ⁶⁸ 16507009 197811007 263681008 more

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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

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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

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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 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)

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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

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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

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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

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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	Vivante A...Hildebrandt F	28381549	2017

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Genes for Congenital Anomalies of Kidney and Urinary Tract 3

Genes related to Congenital Anomalies of Kidney and Urinary Tract 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NRIP1	Nuclear Receptor Interacting Protein 1	Protein Coding	1068	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	28381549

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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

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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.

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Pathways for Congenital Anomalies of Kidney and Urinary Tract 3

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GO Terms for Congenital Anomalies of Kidney and Urinary Tract 3

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Sources for Congenital Anomalies of Kidney and Urinary Tract 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Congenital Anomalies of Kidney and Urinary Tract 3 (CAKUT3)

Aliases & Classifications for Congenital Anomalies of Kidney and Urinary Tract 3

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Congenital Anomalies of Kidney and Urinary Tract 3

Related Diseases for Congenital Anomalies of Kidney and Urinary Tract 3

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

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

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

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Congenital Anomalies of Kidney and Urinary Tract 3

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

Publications for Congenital Anomalies of Kidney and Urinary Tract 3

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

Genes for Congenital Anomalies of Kidney and Urinary Tract 3

Genes related to Congenital Anomalies of Kidney and Urinary Tract 3 (1 elite genes):

Variations for Congenital Anomalies of Kidney and Urinary Tract 3

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

Expression 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