MCID: LDD003
MIFTS: 19

Liddle Syndrome, Scnn1b-Related malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases

Aliases & Classifications for Liddle Syndrome, Scnn1b-Related

Aliases & Descriptions for Liddle Syndrome, Scnn1b-Related:

Name: Liddle Syndrome, Scnn1b-Related 24
Pseudoprimary Hyperaldosteronism 69
Pseudoaldosteronism 24
Liddle Syndrome 69

Classifications:



Summaries for Liddle Syndrome, Scnn1b-Related

MalaCards based summary : Liddle Syndrome, Scnn1b-Related, also known as pseudoprimary hyperaldosteronism, is related to liddle syndrome and gitelman syndrome. An important gene associated with Liddle Syndrome, Scnn1b-Related is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways/superpathways are G-Beta Gamma Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

Related Diseases for Liddle Syndrome, Scnn1b-Related

Graphical network of the top 20 diseases related to Liddle Syndrome, Scnn1b-Related:



Diseases related to Liddle Syndrome, Scnn1b-Related

Symptoms & Phenotypes for Liddle Syndrome, Scnn1b-Related

Drugs & Therapeutics for Liddle Syndrome, Scnn1b-Related

Search Clinical Trials , NIH Clinical Center for Liddle Syndrome, Scnn1b-Related

Genetic Tests for Liddle Syndrome, Scnn1b-Related

Genetic tests related to Liddle Syndrome, Scnn1b-Related:

id Genetic test Affiliating Genes
1 Liddle Syndrome, Scnn1b-Related 24 SCNN1B

Anatomical Context for Liddle Syndrome, Scnn1b-Related

Publications for Liddle Syndrome, Scnn1b-Related

Variations for Liddle Syndrome, Scnn1b-Related

Expression for Liddle Syndrome, Scnn1b-Related

Search GEO for disease gene expression data for Liddle Syndrome, Scnn1b-Related.

Pathways for Liddle Syndrome, Scnn1b-Related

GO Terms for Liddle Syndrome, Scnn1b-Related

Cellular components related to Liddle Syndrome, Scnn1b-Related according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.16 SCNN1B SCNN1G
2 external side of plasma membrane GO:0009897 8.96 SCNN1B SCNN1G
3 sodium channel complex GO:0034706 8.62 SCNN1B SCNN1G

Biological processes related to Liddle Syndrome, Scnn1b-Related according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.46 SCNN1B SCNN1G
2 response to stimulus GO:0050896 9.43 SCNN1B SCNN1G
3 ion transmembrane transport GO:0034220 9.4 SCNN1B SCNN1G
4 sodium ion transport GO:0006814 9.37 SCNN1B SCNN1G
5 sodium ion transmembrane transport GO:0035725 9.32 SCNN1B SCNN1G
6 sensory perception of taste GO:0050909 9.26 SCNN1B SCNN1G
7 excretion GO:0007588 9.16 SCNN1B SCNN1G
8 sodium ion homeostasis GO:0055078 8.96 SCNN1B SCNN1G
9 multicellular organismal water homeostasis GO:0050891 8.62 SCNN1B SCNN1G

Molecular functions related to Liddle Syndrome, Scnn1b-Related according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 8.96 SCNN1B SCNN1G
2 ligand-gated sodium channel activity GO:0015280 8.62 SCNN1B SCNN1G

Sources for Liddle Syndrome, Scnn1b-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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