MCID: BLT024
MIFTS: 20

Bilateral Renal Aplasia

Categories: Nephrological diseases

Aliases & Classifications for Bilateral Renal Aplasia

MalaCards integrated aliases for Bilateral Renal Aplasia:

Name: Bilateral Renal Aplasia 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080200

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 Regulation of actin cytoskeleton and Signaling by activated point mutants of FGFR3. Affiliated tissues include kidney, and related phenotypes are hearing/vestibular/ear and renal/urinary system

Related Diseases for Bilateral Renal Aplasia

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



Diseases related to Bilateral Renal Aplasia

Symptoms & Phenotypes for Bilateral Renal Aplasia

MGI Mouse Phenotypes related to Bilateral Renal Aplasia:

45 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 EMX2 FGF20 FGF9 ITGA8 PAX2
2 renal/urinary system MP:0005367 9.43 AQP7 EMX2 FGF9 ITGA8 PAX2 TBX18
3 skeleton MP:0005390 9.1 AQP9 EMX2 FGF9 HOXB7 ITGA8 TBX18

Drugs & Therapeutics for Bilateral Renal Aplasia

Search Clinical Trials , NIH Clinical Center for Bilateral Renal Aplasia

Genetic Tests for Bilateral Renal Aplasia

Anatomical Context for Bilateral Renal Aplasia

MalaCards organs/tissues related to Bilateral Renal Aplasia:

40
Kidney

Publications for Bilateral Renal Aplasia

Articles related to Bilateral Renal Aplasia:

(showing 4, show less)
# Title Authors PMID Year
1
Canonical WNT/beta-catenin signaling is required for ureteric branching. 61
18358465 2008
2
Potter sequence due to renal aplasia and postaxial hexadactyly. A distinct entity? 61
8357563 1993
3
Bilateral renal asplasia without Potter's syndrome. 61
626065 1978
4
Bilateral renal aplasia: a case in a Chinese infant. 61
14425050 1960

Variations for Bilateral Renal Aplasia

Expression for Bilateral Renal Aplasia

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

Pathways for Bilateral Renal Aplasia

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

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1 11.7 ITGA8 FGF9 FGF20
2
Show member pathways
10.39 FGF9 FGF20

GO Terms for Bilateral Renal Aplasia

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 8.92 TBX18 PAX2 HOXB7 EMX2

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

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of epithelial cell proliferation GO:0050679 9.4 PAX2 FGF9
2 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.37 PAX2 HOXB7
3 water transport GO:0006833 9.32 AQP9 AQP7
4 urea transmembrane transport GO:0071918 9.26 AQP9 AQP7
5 glycerol transport GO:0015793 9.16 AQP9 AQP7
6 inner ear morphogenesis GO:0042472 9.13 PAX2 ITGA8 FGF9
7 multicellular organism development GO:0007275 9.1 TBX18 PAX2 ITGA8 HOXB7 FGF9 EMX2

Molecular functions related to Bilateral Renal Aplasia according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.32 AQP9 AQP7
2 fibroblast growth factor receptor binding GO:0005104 9.26 FGF9 FGF20
3 water channel activity GO:0015250 9.16 AQP9 AQP7
4 urea transmembrane transporter activity GO:0015204 8.96 AQP9 AQP7
5 glycerol channel activity GO:0015254 8.62 AQP9 AQP7

Sources for Bilateral Renal Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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