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

Related Diseases for Bilateral Renal Aplasia

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

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 renal hypodysplasia/aplasia 1 31.0 PAX2 ITGA8
2 renal hypodysplasia/aplasia 2 11.4
3 renal agenesis, bilateral 9.8 ITGA8 FGF20

Symptoms & Phenotypes for Bilateral Renal Aplasia

MGI Mouse Phenotypes related to Bilateral Renal Aplasia:

46 (showing 3, show less)
# 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

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:

41
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. 38
18358465 2008
2
Potter sequence due to renal aplasia and postaxial hexadactyly. A distinct entity? 38
8357563 1993
3
Bilateral renal asplasia without Potter's syndrome. 38
626065 1978
4
Bilateral renal aplasia: a case in a Chinese infant. 38
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

GO Terms for Bilateral Renal Aplasia

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.96 ITGA8 CTNNB1
2 protein-DNA complex GO:0032993 8.62 PAX2 CTNNB1

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

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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