MCID: RNL109
MIFTS: 14

Renal Hypoplasia, Bilateral

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Hypoplasia, Bilateral

MalaCards integrated aliases for Renal Hypoplasia, Bilateral:

Name: Renal Hypoplasia, Bilateral 58 32

Characteristics:

Orphanet epidemiological data:

58
renal hypoplasia, bilateral
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q60.4
ICD10 via Orphanet 33 Q60.4
UMLS via Orphanet 71 C0431692
Orphanet 58 ORPHA97362

Summaries for Renal Hypoplasia, Bilateral

MalaCards based summary : Renal Hypoplasia, Bilateral is related to papillorenal syndrome and oligomeganephronia. An important gene associated with Renal Hypoplasia, Bilateral is PAX2 (Paired Box 2). Affiliated tissues include kidney, and related phenotype is hearing/vestibular/ear.

Related Diseases for Renal Hypoplasia, Bilateral

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

# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 10.4
2 oligomeganephronia 10.4
3 renal hypoplasia 10.2
4 cakut 9.5 PBX1 PAX2

Symptoms & Phenotypes for Renal Hypoplasia, Bilateral

MGI Mouse Phenotypes related to Renal Hypoplasia, Bilateral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 PAX2 PBX1

Drugs & Therapeutics for Renal Hypoplasia, Bilateral

Search Clinical Trials , NIH Clinical Center for Renal Hypoplasia, Bilateral

Genetic Tests for Renal Hypoplasia, Bilateral

Anatomical Context for Renal Hypoplasia, Bilateral

MalaCards organs/tissues related to Renal Hypoplasia, Bilateral:

40
Kidney

Publications for Renal Hypoplasia, Bilateral

Variations for Renal Hypoplasia, Bilateral

Expression for Renal Hypoplasia, Bilateral

Search GEO for disease gene expression data for Renal Hypoplasia, Bilateral.

Pathways for Renal Hypoplasia, Bilateral

GO Terms for Renal Hypoplasia, Bilateral

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.26 PBX1 PAX2
2 positive regulation of cell proliferation GO:0008284 9.16 PBX1 PAX2
3 branching involved in ureteric bud morphogenesis GO:0001658 8.96 PBX1 PAX2
4 urogenital system development GO:0001655 8.62 PBX1 PAX2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.16 PBX1 PAX2
2 sequence-specific double-stranded DNA binding GO:1990837 8.96 PBX1 PAX2
3 transcription factor binding GO:0008134 8.62 PBX1 PAX2

Sources for Renal Hypoplasia, Bilateral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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