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), and among its related pathways/superpathways are Pathways in cancer and Gastric cancer. Affiliated tissues include kidney, and related phenotypes are hearing/vestibular/ear and nervous system

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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:

#	Related Disease	Score	Top Affiliating Genes
1	renal hypodysplasia/aplasia 1	31.3	ITGA8 PAX2
2	renal hypodysplasia/aplasia 2	11.3
3	renal agenesis, bilateral	9.9	FGF20 ITGA8

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Symptoms & Phenotypes for Bilateral Renal Aplasia

MGI Mouse Phenotypes related to Bilateral Renal Aplasia:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	9.55	CTNNB1 EMX2 FGF20 ITGA8 PAX2
2	nervous system	MP:0003631	9.35	CTNNB1 EMX2 FGF20 ITGA8 PAX2
3	renal/urinary system	MP:0005367	9.02	CTNNB1 EMX2 ITGA8 PAX2 WNT11

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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:

⁴²

Kidney

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Publications for Bilateral Renal Aplasia

Articles related to Bilateral Renal Aplasia:

#	Title	Authors	Year
1	Bilateral renal aplasia: a case in a Chinese infant. ( 14425050 )	MUIR CS	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	17.84	GeneCards inferred via : Disorders (show sections)
2	ITGA8	Integrin Subunit Alpha 8	Protein Coding	17.84	GeneCards inferred via : Disorders (show sections)
3	EMX2	Empty Spiracles Homeobox 2	Protein Coding	16.7	DISEASES inferred ¹⁵
4	WNT11	Wnt Family Member 11	Protein Coding	16.05	DISEASES inferred ¹⁵
5	PAX2	Paired Box 2	Protein Coding	15.39	DISEASES inferred ¹⁵
6	CTNNB1	Catenin Beta 1	Protein Coding	13.56	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

Pathways related to Bilateral Renal Aplasia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pathways in cancer ³⁸	12.33	CTNNB1 FGF20 WNT11
2	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.16	CTNNB1 FGF20 WNT11
3	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	11.84	CTNNB1 FGF20 ITGA8
4	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	11.76	CTNNB1 FGF20 ITGA8 WNT11
5	DNA Damage Response (only ATM dependent) ¹	11.52	CTNNB1 WNT11
6	Primary Focal Segmental Glomerulosclerosis FSGS ¹	11.27	CTNNB1 PAX2
7	Association Between Physico-Chemical Features and Toxicity Associated Pathways ¹	11.09	CTNNB1 WNT11
8	Non-Canonical Wnt Pathway ⁶⁸	10.93	CTNNB1 WNT11
9	WNT ligand biogenesis and trafficking ⁶⁷ Show member pathways WNT ligand secretion is abrogated by the PORCN inhibitor LGK974 ⁶⁷ Wnt Pathway ⁷³	10.7	CTNNB1 WNT11

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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	apical part of cell	GO:0045177	8.96	CTNNB1 ITGA8
2	protein-DNA complex	GO:0032993	8.62	CTNNB1 PAX2

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	9.78	EMX2 ITGA8 PAX2 WNT11
2	positive regulation of transcription, DNA-templated	GO:0045893	9.77	CTNNB1 PAX2 WNT11
3	negative regulation of apoptotic process	GO:0043066	9.76	CTNNB1 PAX2 WNT11
4	negative regulation of transcription, DNA-templated	GO:0045892	9.75	CTNNB1 PAX2 WNT11
5	positive regulation of cell proliferation	GO:0008284	9.73	CTNNB1 FGF20 PAX2
6	cell-matrix adhesion	GO:0007160	9.57	CTNNB1 ITGA8
7	canonical Wnt signaling pathway	GO:0060070	9.55	CTNNB1 WNT11
8	forebrain development	GO:0030900	9.54	CTNNB1 EMX2
9	cellular response to retinoic acid	GO:0071300	9.52	PAX2 WNT11
10	inner ear morphogenesis	GO:0042472	9.51	ITGA8 PAX2
11	response to nutrient levels	GO:0031667	9.49	PAX2 WNT11
12	branching involved in ureteric bud morphogenesis	GO:0001658	9.46	CTNNB1 PAX2
13	epithelial to mesenchymal transition	GO:0001837	9.43	CTNNB1 WNT11
14	neuron differentiation	GO:0030182	9.43	CTNNB1 EMX2 WNT11
15	Wnt signaling pathway, calcium modulating pathway	GO:0007223	9.4	CTNNB1 WNT11
16	protein localization to cell surface	GO:0034394	9.37	CTNNB1 WNT11
17	kidney development	GO:0001822	9.33	CTNNB1 ITGA8 WNT11
18	cell fate determination	GO:0001709	9.32	CTNNB1 PAX2
19	cell differentiation	GO:0030154	9.02	CTNNB1 FGF20 ITGA8 PAX2 WNT11
20	lung-associated mesenchyme development	GO:0060484	8.96	CTNNB1 WNT11

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Sources for Bilateral Renal Aplasia

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