MCID: BLT024
MIFTS: 18

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). Affiliated tissues include kidney, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and hearing/vestibular/ear

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

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

26 (showing 1, show less)
# 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 (showing 3, show less)
# 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

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

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 protein-DNA complex GO:0032993 8.62 PAX2 EYA1

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

(showing 11, show less)
# 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

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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