LIDLS3
MCID: LDD009
MIFTS: 17

Liddle Syndrome 3 (LIDLS3)

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 72 29 6
Lidls3 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
based on report of 1 family (last curated september 2018)


HPO:

31
liddle syndrome 3:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM® 57 618126
OMIM Phenotypic Series 57 PS177200
MeSH 44 D056929

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) (Updated 05-Apr-2021)

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 Subunit Alpha). Related phenotypes are hypertension and hypokalemia

UniProtKB/Swiss-Prot : 72 Liddle syndrome 3: A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.

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

Human phenotypes related to Liddle Syndrome 3:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hypokalemia 31 HP:0002900
3 metabolic alkalosis 31 HP:0200114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Metabolic Features:
hypokalemia
metabolic alkalosis

Endocrine Features:
hypertension
low renin
low aldosterone

Clinical features from OMIM®:

618126 (Updated 05-Apr-2021)

Drugs & Therapeutics for Liddle Syndrome 3

Search Clinical Trials , NIH Clinical Center for Liddle Syndrome 3

Genetic Tests for Liddle Syndrome 3

Genetic tests related to Liddle Syndrome 3:

# Genetic test Affiliating Genes
1 Liddle Syndrome 3 29 SCNN1A

Anatomical Context for Liddle Syndrome 3

Publications for Liddle Syndrome 3

Articles related to Liddle Syndrome 3:

# Title Authors PMID Year
1
A Missense Mutation in the Extracellular Domain of ╬▒ENaC Causes Liddle Syndrome. 6 57
28710092 2017

Variations for Liddle Syndrome 3

ClinVar genetic disease variations for Liddle Syndrome 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCNN1A NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg) SNV Pathogenic 561216 rs201873521 GRCh37: 12:6458497-6458497
GRCh38: 12:6349331-6349331

UniProtKB/Swiss-Prot genetic disease variations for Liddle Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 SCNN1A p.Cys479Arg VAR_081179 rs201873521

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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