MCID: LTN020
MIFTS: 14

Late-Onset Nephronophthisis

Categories: Nephrological diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Late-Onset Nephronophthisis

MalaCards integrated aliases for Late-Onset Nephronophthisis:

Name: Late-Onset Nephronophthisis 59

Characteristics:

Orphanet epidemiological data:

59
late-onset nephronophthisis
Inheritance: Autosomal recessive;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA93589
ICD10 via Orphanet 34 Q61.5

Summaries for Late-Onset Nephronophthisis

MalaCards based summary : Late-Onset Nephronophthisis is related to juvenile nephronophthisis and senior-loken syndrome 1. An important gene associated with Late-Onset Nephronophthisis is XPNPEP3 (X-Prolyl Aminopeptidase 3). Affiliated tissues include kidney, and related phenotype is Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells).

Related Diseases for Late-Onset Nephronophthisis

Symptoms & Phenotypes for Late-Onset Nephronophthisis

GenomeRNAi Phenotypes related to Late-Onset Nephronophthisis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 8.62 MAPKBP1 NPHP3

Drugs & Therapeutics for Late-Onset Nephronophthisis

Search Clinical Trials , NIH Clinical Center for Late-Onset Nephronophthisis

Genetic Tests for Late-Onset Nephronophthisis

Anatomical Context for Late-Onset Nephronophthisis

MalaCards organs/tissues related to Late-Onset Nephronophthisis:

41
Kidney

Publications for Late-Onset Nephronophthisis

Variations for Late-Onset Nephronophthisis

Expression for Late-Onset Nephronophthisis

Search GEO for disease gene expression data for Late-Onset Nephronophthisis.

Pathways for Late-Onset Nephronophthisis

GO Terms for Late-Onset Nephronophthisis

Sources for Late-Onset Nephronophthisis

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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