MCID: RNL109
MIFTS: 15

Renal Hypoplasia, Bilateral

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Hypoplasia, Bilateral

MalaCards integrated aliases for Renal Hypoplasia, Bilateral:

Name: Renal Hypoplasia, Bilateral 59

Characteristics:

Orphanet epidemiological data:

59
renal hypoplasia, bilateral
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Orphanet 59 ORPHA97362
UMLS via Orphanet 74 C0431692
ICD10 via Orphanet 34 Q60.4
ICD10 33 Q60.4 Q63.8

Summaries for Renal Hypoplasia, Bilateral

MalaCards based summary : Renal Hypoplasia, Bilateral is related to renal hypoplasia and papillorenal syndrome. An important gene associated with Renal Hypoplasia, Bilateral is PBX1 (PBX Homeobox 1). 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 renal hypoplasia 10.7
2 papillorenal syndrome 10.4
3 oligomeganephronia 10.4
4 cakut 9.0 PAX2 PBX1

Symptoms & Phenotypes for Renal Hypoplasia, Bilateral

MGI Mouse Phenotypes related to Renal Hypoplasia, Bilateral:

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# 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:

41
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 9.32 PAX2 PBX1
2 transcription by RNA polymerase II GO:0006366 9.26 PAX2 PBX1
3 positive regulation of cell proliferation GO:0008284 9.16 PAX2 PBX1
4 branching involved in ureteric bud morphogenesis GO:0001658 8.96 PAX2 PBX1
5 urogenital system development GO:0001655 8.62 PAX2 PBX1

Sources for Renal Hypoplasia, Bilateral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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