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

About this section

Aliases & Descriptions for Liddle Syndrome, Scnn1b-Related:

Name: Liddle Syndrome, Scnn1b-Related 24
Pseudoprimary Hyperaldosteronism 68
 
Pseudoaldosteronism 24
Liddle Syndrome 68

Classifications:



Summaries for Liddle Syndrome, Scnn1b-Related

About this section
MalaCards based summary: Liddle Syndrome, Scnn1b-Related, also known as pseudoprimary hyperaldosteronism, is related to liddle syndrome and gitelman syndrome, and has symptoms including cushingoid facies An important gene associated with Liddle Syndrome, Scnn1b-Related is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways are Ion channel transport and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

Related Diseases for Liddle Syndrome, Scnn1b-Related

About this section

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



Diseases related to liddle syndrome, scnn1b-related

Symptoms & Phenotypes for Liddle Syndrome, Scnn1b-Related

About this section

UMLS symptoms related to Liddle Syndrome, Scnn1b-Related:


cushingoid facies

Drugs & Therapeutics for Liddle Syndrome, Scnn1b-Related

About this section

Interventional clinical trials:

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

Genetic Tests for Liddle Syndrome, Scnn1b-Related

About this section

Genetic tests related to Liddle Syndrome, Scnn1b-Related:

id Genetic test Affiliating Genes
1 Liddle Syndrome, Scnn1b-Related24 SCNN1B

Anatomical Context for Liddle Syndrome, Scnn1b-Related

About this section

Publications for Liddle Syndrome, Scnn1b-Related

About this section

Variations for Liddle Syndrome, Scnn1b-Related

About this section

Clinvar genetic disease variations for Liddle Syndrome, Scnn1b-Related:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SCNN1GNM_001039.3(SCNN1G): c.1718G> A (p.Trp573Ter)SNVPathogenicrs137853342GRCh37Chr 16, 23226558: 23226558
2SCNN1BNM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter)SNVPathogenicrs137852704GRCh37Chr 16, 23391895: 23391895
3SCNN1BNM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu)SNVPathogenicrs387906402GRCh37Chr 16, 23392046: 23392046
4SCNN1BNM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His)SNVPathogenicrs137852707GRCh37Chr 16, 23392057: 23392057
5SCNN1BSCNN1B, 1-BP INS, 592CinsertionPathogenicChr na, -1: -1
6SCNN1BSCNN1B, 32-BP DELdeletionPathogenicChr na, -1: -1
7SCNN1BNM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser)SNVPathogenicrs137852708GRCh37Chr 16, 23392048: 23392048
8SCNN1BNM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg)SNVPathogenicrs387906402GRCh37Chr 16, 23392046: 23392046

Expression for genes affiliated with Liddle Syndrome, Scnn1b-Related

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

Pathways for genes affiliated with Liddle Syndrome, Scnn1b-Related

About this section

GO Terms for genes affiliated with Liddle Syndrome, Scnn1b-Related

About this section

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

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.7SCNN1B, SCNN1G
2external side of plasma membraneGO:00098979.3SCNN1B, SCNN1G
3sodium channel complexGO:00347069.1SCNN1B, SCNN1G

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1excretionGO:00075889.8SCNN1B, SCNN1G
2ion transmembrane transportGO:00342209.7SCNN1B, SCNN1G
3multicellular organismal water homeostasisGO:00508919.7SCNN1B, SCNN1G
4sensory perception of tasteGO:00509099.7SCNN1B, SCNN1G
5sodium ion homeostasisGO:00550789.7SCNN1B, SCNN1G
6sodium ion transmembrane transportGO:00357259.7SCNN1B, SCNN1G
7sodium ion transportGO:00068149.1SCNN1B, SCNN1G

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

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:00152809.5SCNN1B, SCNN1G
2WW domain bindingGO:00506999.1SCNN1B, SCNN1G

Sources for Liddle Syndrome, Scnn1b-Related

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet