Bilateral Renal Aplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Bilateral Renal Aplasia

MalaCards integrated aliases for Bilateral Renal Aplasia:

Name: Bilateral Renal Aplasia ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080200

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Summaries for Bilateral Renal Aplasia

Disease Ontology : ¹² A renal agenesis that is characterized by the absence of both kidneys at birth.

MalaCards based summary : Bilateral Renal Aplasia is related to renal hypodysplasia/aplasia 1 and renal hypodysplasia/aplasia 2. An important gene associated with Bilateral Renal Aplasia is FGF20 (Fibroblast Growth Factor 20). Affiliated tissues include kidney, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and hearing/vestibular/ear

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Related Diseases for Bilateral Renal Aplasia

Diseases related to Bilateral Renal Aplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	renal hypodysplasia/aplasia 1	29.0	PAX2 ITGA8 HOXB7 GFRA1 EYA1 EMX2
2	renal hypodysplasia/aplasia 2	11.4
3	renal agenesis, bilateral	10.1	ITGA8 FGF20
4	papillorenal syndrome	9.9	PAX2 EYA1
5	deafness, x-linked 2	9.9	PAX2 EYA1
6	townes-brocks syndrome	9.9	PAX2 EYA1
7	branchiootic syndrome	9.8	PAX2 EYA1
8	branchiootorenal syndrome	9.8	PAX2 EYA1
9	axenfeld-rieger syndrome	9.7	PAX2 EYA1
10	aniridia 1	9.7	PAX2 EYA1
11	oligomeganephronia	9.6	PAX2 EYA1 DSTYK
12	congenital anomalies of kidney and urinary tract 2	9.6	PAX2 EYA1 DSTYK
13	kidney disease	9.3	PAX2 ITGA8 EYA1 DSTYK
14	renal hypoplasia	9.3	PAX2 HOXB7 EYA1
15	hydronephrosis	9.3	PAX2 HOXB7
16	cakut	8.4	PAX2 ITGA8 HOXB7 GFRA1 EYA1 DSTYK
17	vesicoureteral reflux 1	8.2	PAX2 HOXB7 GFRA1 EYA1 EMX2 DSTYK

Graphical network of the top 20 diseases related to Bilateral Renal Aplasia:

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Symptoms & Phenotypes for Bilateral Renal Aplasia

GenomeRNAi Phenotypes related to Bilateral Renal Aplasia according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Resistant to vaccinia virus (VACV-A4L) infection	GR00351-A-1	9.02	DSTYK EMX2 EYA1 HOXB7 ITGA8

MGI Mouse Phenotypes related to Bilateral Renal Aplasia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.55	EMX2 EYA1 FGF20 ITGA8 PAX2
2	nervous system	MP:0003631	9.5	DSTYK EMX2 EYA1 FGF20 GFRA1 ITGA8
3	renal/urinary system	MP:0005367	9.02	EMX2 EYA1 GFRA1 ITGA8 PAX2

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Drugs & Therapeutics for Bilateral Renal Aplasia

Search Clinical Trials , NIH Clinical Center for Bilateral Renal Aplasia

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Genetic Tests for Bilateral Renal Aplasia

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Anatomical Context for Bilateral Renal Aplasia

MalaCards organs/tissues related to Bilateral Renal Aplasia:

⁴⁰

Kidney

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Publications for Bilateral Renal Aplasia

Articles related to Bilateral Renal Aplasia:

#	Title	Authors	PMID	Year
1	Canonical WNT/beta-catenin signaling is required for ureteric branching. ⁶¹	Bridgewater D...Rosenblum ND	18358465	2008
2	Potter sequence due to renal aplasia and postaxial hexadactyly. A distinct entity? ⁶¹	Meinecke P...Peters A	8357563	1993
3	Bilateral renal asplasia without Potter's syndrome. ⁶¹	Hjalmarson O...Sabel KG	626065	1978
4	Bilateral renal aplasia: a case in a Chinese infant. ⁶¹	MUIR CS	14425050	1960

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Genes for Bilateral Renal Aplasia

Genes related to Bilateral Renal Aplasia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FGF20	Fibroblast Growth Factor 20	Protein Coding	13.48	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
2	ITGA8	Integrin Subunit Alpha 8	Protein Coding	7.69	GeneCards inferred via : Disorders (show sections)
3	DSTYK	Dual Serine/Threonine And Tyrosine Protein Kinase	Protein Coding	6.6	DISEASES inferred ¹⁵
4	PAX2	Paired Box 2	Protein Coding	6.17	DISEASES inferred ¹⁵
5	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	5.76	DISEASES inferred ¹⁵
6	EMX2	Empty Spiracles Homeobox 2	Protein Coding	5.71	DISEASES inferred ¹⁵
7	HOXB7	Homeobox B7	Protein Coding	5.41	DISEASES inferred ¹⁵
8	GFRA1	GDNF Family Receptor Alpha 1	Protein Coding	5.37	DISEASES inferred ¹⁵

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Variations for Bilateral Renal Aplasia

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Expression for Bilateral Renal Aplasia

Search GEO for disease gene expression data for Bilateral Renal Aplasia.

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Pathways for Bilateral Renal Aplasia

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GO Terms for Bilateral Renal Aplasia

Cellular components related to Bilateral Renal Aplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-DNA complex	GO:0032993	8.62	PAX2 EYA1

Biological processes related to Bilateral Renal Aplasia according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell differentiation	GO:0030154	9.78	PAX2 ITGA8 FGF20 EYA1
2	multicellular organism development	GO:0007275	9.55	PAX2 ITGA8 HOXB7 EYA1 EMX2
3	positive regulation of epithelial cell proliferation	GO:0050679	9.49	PAX2 EYA1
4	embryonic skeletal system morphogenesis	GO:0048704	9.46	HOXB7 EYA1
5	branching involved in ureteric bud morphogenesis	GO:0001658	9.43	PAX2 EYA1
6	metanephros development	GO:0001656	9.4	ITGA8 EYA1
7	regulation of neuron differentiation	GO:0045664	9.37	FGF20 EYA1
8	cochlea morphogenesis	GO:0090103	9.32	PAX2 EYA1
9	positive regulation of branching involved in ureteric bud morphogenesis	GO:0090190	9.26	PAX2 HOXB7
10	mesodermal cell fate specification	GO:0007501	8.96	PAX2 EYA1
11	inner ear morphogenesis	GO:0042472	8.8	PAX2 ITGA8 EYA1

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Sources for Bilateral Renal Aplasia

¹ BioSystems

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²⁵ Genetics Home Reference

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⁴⁷ NCBI Bookshelf

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⁵⁶ OMIM

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⁵⁸ Orphanet

⁵⁹ PathCards

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia