MCID: LDD008
MIFTS: 23

Liddle Syndrome 2

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

Aliases & Classifications for Liddle Syndrome 2

MalaCards integrated aliases for Liddle Syndrome 2:

Name: Liddle Syndrome 2 57 6
Liddle Syndrome 57
Lidls2 57

Classifications:



External Ids:

OMIM 57 618114

Summaries for Liddle Syndrome 2

OMIM : 57 Liddle syndrome is an autosomal dominant form of hypertension characterized by early onset of hypertension associated with hypokalemia, suppressed plasma renin activity, and suppressed secretion of the mineralocorticoid hormone aldosterone (summary by Hansson et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Liddle syndrome, see 177200. (618114)

MalaCards based summary : Liddle Syndrome 2, also known as liddle syndrome, is related to liddle syndrome 1 and liddle syndrome 3. An important gene associated with Liddle Syndrome 2 is SCNN1G (Sodium Channel Epithelial 1 Gamma Subunit). Affiliated tissues include brain and kidney.

Related Diseases for Liddle Syndrome 2

Diseases in the Liddle Syndrome 1 family:

Liddle Syndrome 2 Liddle Syndrome 3

Diseases related to Liddle Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 liddle syndrome 1 12.8
2 liddle syndrome 3 12.4
3 apparent mineralocorticoid excess 10.1
4 pseudohypoaldosteronism 10.0

Symptoms & Phenotypes for Liddle Syndrome 2

Clinical features from OMIM:

618114

Drugs & Therapeutics for Liddle Syndrome 2

Search Clinical Trials , NIH Clinical Center for Liddle Syndrome 2

Genetic Tests for Liddle Syndrome 2

Anatomical Context for Liddle Syndrome 2

MalaCards organs/tissues related to Liddle Syndrome 2:

41
Brain, Kidney

Publications for Liddle Syndrome 2

Articles related to Liddle Syndrome 2:

(show all 46)
# Title Authors Year
1
Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor. ( 29229744 )
2018
2
Liddle Syndrome: Review of the Literature and Description of a New Case. ( 29534496 )
2018
3
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B. ( 30496127 )
2018
4
Liddle Syndrome in Association with Aortic Dissection. ( 28589074 )
2017
5
A Missense Mutation in the Extracellular Domain of I+ENaC Causes Liddle Syndrome. ( 28710092 )
2017
6
Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review. ( 28396810 )
2017
7
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. ( 28718682 )
2017
8
Liddle syndrome in a Turkish family with heterogeneous phenotypes. ( 27325428 )
2016
9
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel I^-subunit in a case of early-onset phenotype of Liddle syndrome. ( 27900368 )
2016
10
Liddle syndrome: clinical and genetic profiles. ( 27896928 )
2016
11
In Liddle Syndrome, Epithelial Sodium Channel Is Hyperactive Mainly in the Early Part of the Aldosterone-Sensitive Distal Nephron. ( 27170740 )
2016
12
Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population. ( 26075967 )
2015
13
Liddle syndrome phenotype in an octogenarian. ( 25427961 )
2015
14
A novel frameshift mutation of epithelial sodium channel I^-subunit leads to Liddle syndrome in an isolated case. ( 25378078 )
2014
15
A case of liddle syndrome: correspondence. ( 24827081 )
2014
16
Phenotype-genotype analysis in two Chinese families with Liddle syndrome. ( 24474657 )
2014
17
A Case of Liddle Syndrome: Author's Reply. ( 24827082 )
2014
18
A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel. ( 22809657 )
2013
19
A case of Liddle Syndrome. ( 23307437 )
2013
20
Liddle syndrome in a Serbian family and literature review of underlying mutations. ( 21956615 )
2012
21
Salt-induced hypertension in a mouse model of Liddle syndrome is mediated by epithelial sodium channels in the brain. ( 22802227 )
2012
22
High prevalence of liddle syndrome phenotype among hypertensive US Veterans in Northwest Louisiana. ( 21054772 )
2010
23
Role of the UPS in Liddle syndrome. ( 19007435 )
2008
24
The PY motif of ENaC, mutated in Liddle syndrome, regulates channel internalization, sorting and mobilization from subapical pool. ( 17605762 )
2007
25
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. ( 17634077 )
2007
26
Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit. ( 15856328 )
2005
27
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. ( 15690192 )
2005
28
Distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 14625721 )
2004
29
Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome. ( 12937297 )
2003
30
The distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 12759812 )
2003
31
A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome. ( 12473861 )
2002
32
Liddle syndrome in a newborn infant. ( 12185466 )
2002
33
Liddle syndrome: genetics and mechanisms of Na+ channel defects. ( 11780687 )
2001
34
Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members. ( 11393671 )
2001
35
Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man. ( 10446938 )
1999
36
Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. ( 9637708 )
1998
37
The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. ( 9643296 )
1998
38
Liddle syndrome: an autosomal dominant form of human hypertension. ( 9452995 )
1998
39
Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. ( 8665845 )
1996
40
The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. ( 8987044 )
1996
41
Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. ( 8986818 )
1996
42
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. ( 8524790 )
1995
43
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. ( 7550319 )
1995
44
Liddle syndrome: clinical and cellular abnormalities. ( 8027210 )
1994
45
Liddle syndrome: sodium influx into RBC. ( 7365623 )
1980
46
Liddle syndrome. ( 480019 )
1979

Variations for Liddle Syndrome 2

ClinVar genetic disease variations for Liddle Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1G NM_001039.3(SCNN1G): c.1718G> A (p.Trp573Ter) single nucleotide variant Pathogenic rs137853342 GRCh37 Chromosome 16, 23226558: 23226558
2 SCNN1G NM_001039.3(SCNN1G): c.1718G> A (p.Trp573Ter) single nucleotide variant Pathogenic rs137853342 GRCh38 Chromosome 16, 23215237: 23215237
3 SCNN1G SCNN1G, GLN567TER single nucleotide variant Pathogenic
4 SCNN1G SCNN1G, ASN530SER single nucleotide variant Pathogenic
5 SCNN1G NM_001039.3(SCNN1G): c.1749_1753del (p.Glu583Aspfs) deletion Pathogenic GRCh37 Chromosome 16, 23226589: 23226593
6 SCNN1G NM_001039.3(SCNN1G): c.1749_1753del (p.Glu583Aspfs) deletion Pathogenic GRCh38 Chromosome 16, 23215268: 23215272

Expression for Liddle Syndrome 2

Search GEO for disease gene expression data for Liddle Syndrome 2.

Pathways for Liddle Syndrome 2

GO Terms for Liddle Syndrome 2

Sources for Liddle Syndrome 2

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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