MCID: LDD009
MIFTS: 9

Liddle Syndrome 3

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

Aliases & Classifications for Liddle Syndrome 3

MalaCards integrated aliases for Liddle Syndrome 3:

Name: Liddle Syndrome 3 57 6
Lidls3 57

Classifications:



External Ids:

OMIM 57 618126

Summaries for Liddle Syndrome 3

OMIM : 57 Liddle syndrome, or pseudoaldosteronism, is an autosomal dominant form of salt-sensitive hypertension characterized by suppressed plasma renin and aldosterone, hypokalemia, and metabolic alkalosis (summary by Salih et al., 2017). For a discussion of genetic heterogeneity of Liddle syndrome, see 177200. (618126)

MalaCards based summary : Liddle Syndrome 3, is also known as lidls3. An important gene associated with Liddle Syndrome 3 is SCNN1A (Sodium Channel Epithelial 1 Alpha Subunit).

Related Diseases for Liddle Syndrome 3

Diseases in the Liddle Syndrome 1 family:

Liddle Syndrome 2 Liddle Syndrome 3

Symptoms & Phenotypes for Liddle Syndrome 3

Clinical features from OMIM:

618126

Drugs & Therapeutics for Liddle Syndrome 3

Search Clinical Trials , NIH Clinical Center for Liddle Syndrome 3

Genetic Tests for Liddle Syndrome 3

Anatomical Context for Liddle Syndrome 3

Publications for Liddle Syndrome 3

Variations for Liddle Syndrome 3

ClinVar genetic disease variations for Liddle Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1A NM_001038.5(SCNN1A): c.1435T> C (p.Cys479Arg) single nucleotide variant Pathogenic rs201873521 GRCh38 Chromosome 12, 6349331: 6349331
2 SCNN1A NM_001038.5(SCNN1A): c.1435T> C (p.Cys479Arg) single nucleotide variant Pathogenic rs201873521 GRCh37 Chromosome 12, 6458497: 6458497

Expression for Liddle Syndrome 3

Search GEO for disease gene expression data for Liddle Syndrome 3.

Pathways for Liddle Syndrome 3

GO Terms for Liddle Syndrome 3

Sources for Liddle Syndrome 3

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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