MCID: RRR011
MIFTS: 6

Rare Renal Tubular Disease

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Rare Renal Tubular Disease

MalaCards integrated aliases for Rare Renal Tubular Disease:

Name: Rare Renal Tubular Disease 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

UMLS via Orphanet 72 C0151747
Orphanet 58 ORPHA93603

Summaries for Rare Renal Tubular Disease

MalaCards based summary : Rare Renal Tubular Disease An important gene associated with Rare Renal Tubular Disease is KCNJ10 (Potassium Inwardly Rectifying Channel Subfamily J Member 10).

Related Diseases for Rare Renal Tubular Disease

Symptoms & Phenotypes for Rare Renal Tubular Disease

Drugs & Therapeutics for Rare Renal Tubular Disease

Search Clinical Trials , NIH Clinical Center for Rare Renal Tubular Disease

Genetic Tests for Rare Renal Tubular Disease

Anatomical Context for Rare Renal Tubular Disease

Publications for Rare Renal Tubular Disease

Articles related to Rare Renal Tubular Disease:

# Title Authors PMID Year
1
A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. 61
29511623 2018
2
A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3. 61
23902721 2013

Variations for Rare Renal Tubular Disease

ClinVar genetic disease variations for Rare Renal Tubular Disease:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ10 NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)SNV Pathogenic 7462 rs137853066 1:160012129-160012129 1:160042339-160042339

Expression for Rare Renal Tubular Disease

Search GEO for disease gene expression data for Rare Renal Tubular Disease.

Pathways for Rare Renal Tubular Disease

GO Terms for Rare Renal Tubular Disease

Sources for Rare Renal Tubular Disease

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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