MCID: BLT024
MIFTS: 21

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 ITGA8 (Integrin Subunit Alpha 8), 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:

# 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 ITGA8 FGF20

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

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:

42
Kidney

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 )
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:

# 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 21)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.8 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 9.77 CTNNB1 PAX2 WNT11
4 negative regulation of transcription, DNA-templated GO:0045892 9.76 CTNNB1 PAX2 WNT11
5 positive regulation of cell proliferation GO:0008284 9.74 CTNNB1 FGF20 PAX2
6 cell-matrix adhesion GO:0007160 9.58 CTNNB1 ITGA8
7 canonical Wnt signaling pathway GO:0060070 9.56 CTNNB1 WNT11
8 forebrain development GO:0030900 9.55 CTNNB1 EMX2
9 cellular response to retinoic acid GO:0071300 9.54 PAX2 WNT11
10 inner ear morphogenesis GO:0042472 9.52 ITGA8 PAX2
11 response to nutrient levels GO:0031667 9.51 PAX2 WNT11
12 branching involved in ureteric bud morphogenesis GO:0001658 9.48 CTNNB1 PAX2
13 epithelial to mesenchymal transition GO:0001837 9.46 CTNNB1 WNT11
14 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.43 CTNNB1 WNT11
15 neuron differentiation GO:0030182 9.43 CTNNB1 EMX2 WNT11
16 renal system development GO:0072001 9.4 CTNNB1 EMX2
17 protein localization to cell surface GO:0034394 9.37 CTNNB1 WNT11
18 kidney development GO:0001822 9.33 CTNNB1 ITGA8 WNT11
19 cell fate determination GO:0001709 9.32 CTNNB1 PAX2
20 cell differentiation GO:0030154 9.02 CTNNB1 FGF20 ITGA8 PAX2 WNT11
21 lung-associated mesenchyme development GO:0060484 8.96 CTNNB1 WNT11

Sources for Bilateral Renal Aplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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