LIDLS2
MCID: LDD008
MIFTS: 23

Liddle Syndrome 2 (LIDLS2)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Liddle Syndrome 2

MalaCards integrated aliases for Liddle Syndrome 2:

Name: Liddle Syndrome 2 57 73 28 5 38
Lidls2 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
phenotype ameliorated by low-salt diet and antagonists of the epithelial channel of the distal nephron
no improvement with antagonists of the mineralocorticoid receptor


Classifications:



External Ids:

OMIM® 57 618114
OMIM Phenotypic Series 57 PS177200
MeSH 43 D056929

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) (Updated 08-Dec-2022)

MalaCards based summary: Liddle Syndrome 2, is also known as lidls2. An important gene associated with Liddle Syndrome 2 is SCNN1G (Sodium Channel Epithelial 1 Subunit Gamma). Related phenotypes are hypertension and hypokalemia

UniProtKB/Swiss-Prot: 73 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 2

Diseases in the Liddle Syndrome 1 family:

Liddle Syndrome 2 Liddle Syndrome 3

Symptoms & Phenotypes for Liddle Syndrome 2

Human phenotypes related to Liddle Syndrome 2:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 30 Very rare (1%) HP:0000822
2 hypokalemia 30 Very rare (1%) HP:0002900
3 decreased circulating aldosterone level 30 Very rare (1%) HP:0004319
4 metabolic alkalosis 30 Very rare (1%) HP:0200114
5 decreased circulating renin level 30 Very rare (1%) HP:0003351

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Vascular:
hypertension

Endocrine Features:
low plasma renin activity
low plasma aldosterone level

Metabolic Features:
hypokalemia
metabolic alkalosis

Clinical features from OMIM®:

618114 (Updated 08-Dec-2022)

Drugs & Therapeutics for Liddle Syndrome 2

Search Clinical Trials, NIH Clinical Center for Liddle Syndrome 2

Genetic Tests for Liddle Syndrome 2

Genetic tests related to Liddle Syndrome 2:

# Genetic test Affiliating Genes
1 Liddle Syndrome 2 28 SCNN1G

Anatomical Context for Liddle Syndrome 2

Publications for Liddle Syndrome 2

Articles related to Liddle Syndrome 2:

# Title Authors PMID Year
1
[Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese]. 57 5
20376790 2010
2
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. 57 5
17634077 2007
3
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. 57 5
12473862 2002
4
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. 57 5
7550319 1995
5
Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. 57
8521520 1995

Variations for Liddle Syndrome 2

ClinVar genetic disease variations for Liddle Syndrome 2:

5 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCNN1G NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) SNV Pathogenic
8824 rs137853342 GRCh37: 16:23226558-23226558
GRCh38: 16:23215237-23215237
2 SCNN1G NM_001039.4(SCNN1G):c.1699C>T (p.Gln567*) SNV Pathogenic
561163 GRCh37: 16:23226539-23226539
GRCh38: 16:23215218-23215218
3 SCNN1G NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) DEL Pathogenic
565277 rs1567270184 GRCh37: 16:23226589-23226593
GRCh38: 16:23215268-23215272
4 SCNN1G NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) DUP Likely Pathogenic
804476 rs1596760831 GRCh37: 16:23197731-23197732
GRCh38: 16:23186410-23186411
5 SCNN1G NM_001039.4(SCNN1G):c.*1287C>T SNV Uncertain Significance
884266 rs927733196 GRCh37: 16:23228077-23228077
GRCh38: 16:23216756-23216756
6 SCNN1G NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) SNV Uncertain Significance
885190 rs5738 GRCh37: 16:23200963-23200963
GRCh38: 16:23189642-23189642
7 SCNN1G NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) SNV Uncertain Significance
885259 rs1960141342 GRCh37: 16:23226564-23226564
GRCh38: 16:23215243-23215243
8 SCNN1G NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) SNV Uncertain Significance
885260 rs1474666302 GRCh37: 16:23226681-23226681
GRCh38: 16:23215360-23215360
9 SCNN1G NM_001039.4(SCNN1G):c.*591G>T SNV Uncertain Significance
885326 rs538477185 GRCh37: 16:23227381-23227381
GRCh38: 16:23216060-23216060
10 SCNN1G NM_001039.4(SCNN1G):c.48C>T (p.Pro16=) SNV Uncertain Significance
885119 rs1203780950 GRCh37: 16:23197640-23197640
GRCh38: 16:23186319-23186319
11 SCNN1G NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys) SNV Uncertain Significance
886092 rs147199706 GRCh37: 16:23208611-23208611
GRCh38: 16:23197290-23197290
12 SCNN1G NM_001039.4(SCNN1G):c.*99C>T SNV Uncertain Significance
886157 rs1418745552 GRCh37: 16:23226889-23226889
GRCh38: 16:23215568-23215568
13 SCNN1G NM_001039.4(SCNN1G):c.*789T>G SNV Uncertain Significance
886233 rs9923016 GRCh37: 16:23227579-23227579
GRCh38: 16:23216258-23216258
14 SCNN1G NM_001039.4(SCNN1G):c.*909C>T SNV Uncertain Significance
887236 rs1003477910 GRCh37: 16:23227699-23227699
GRCh38: 16:23216378-23216378
15 SCNN1G NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=) SNV Uncertain Significance
888366 rs767735046 GRCh37: 16:23226102-23226102
GRCh38: 16:23214781-23214781
16 SCNN1G NM_001039.4(SCNN1G):c.*393T>C SNV Uncertain Significance
888427 rs943847843 GRCh37: 16:23227183-23227183
GRCh38: 16:23215862-23215862
17 SCNN1G NM_001039.4(SCNN1G):c.*1243C>T SNV Uncertain Significance
888488 rs527408442 GRCh37: 16:23228033-23228033
GRCh38: 16:23216712-23216712
18 SCNN1G NM_001039.4(SCNN1G):c.*1273C>T SNV Uncertain Significance
884265 rs1960163702 GRCh37: 16:23228063-23228063
GRCh38: 16:23216742-23216742
19 SCNN1G NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) SNV Uncertain Significance
451433 rs144653364 GRCh37: 16:23226089-23226089
GRCh38: 16:23214768-23214768
20 SCNN1G NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) SNV Uncertain Significance
318348 rs754747376 GRCh37: 16:23200820-23200820
GRCh38: 16:23189499-23189499
21 SCNN1G NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) SNV Uncertain Significance
318354 rs752432261 GRCh37: 16:23221076-23221076
GRCh38: 16:23209755-23209755
22 SCNN1G NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) SNV Uncertain Significance
318352 rs886051800 GRCh37: 16:23203717-23203717
GRCh38: 16:23192396-23192396
23 SCNN1G NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) SNV Uncertain Significance
318351 rs546893551 GRCh37: 16:23200913-23200913
GRCh38: 16:23189592-23189592
24 SCNN1G NM_001039.4(SCNN1G):c.*979T>C SNV Uncertain Significance
318376 rs540231207 GRCh37: 16:23227769-23227769
GRCh38: 16:23216448-23216448
25 SCNN1G NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) SNV Uncertain Significance
318355 rs202142122 GRCh37: 16:23223365-23223365
GRCh38: 16:23212044-23212044
26 SCNN1G NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) SNV Uncertain Significance
318356 rs886051801 GRCh37: 16:23224162-23224162
GRCh38: 16:23212841-23212841
27 SCNN1G NM_001039.4(SCNN1G):c.*584G>A SNV Uncertain Significance
318368 rs886051802 GRCh37: 16:23227374-23227374
GRCh38: 16:23216053-23216053
28 SCNN1G NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) SNV Likely Benign
318346 rs200985912 GRCh37: 16:23200773-23200773
GRCh38: 16:23189452-23189452
29 SCNN1G NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) SNV Likely Benign
318350 rs763601481 GRCh37: 16:23200912-23200912
GRCh38: 16:23189591-23189591
30 SCNN1G NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) SNV Likely Benign
8829 rs5738 GRCh37: 16:23200963-23200963
GRCh38: 16:23189642-23189642
31 SCNN1G NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) SNV Likely Benign
8828 rs5736 GRCh37: 16:23200921-23200921
GRCh38: 16:23189600-23189600
32 SCNN1G NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) SNV Likely Benign
318359 rs148985177 GRCh37: 16:23226429-23226429
GRCh38: 16:23215108-23215108
33 SCNN1G NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) SNV Likely Benign
886034 rs774767092 GRCh37: 16:23197724-23197724
GRCh38: 16:23186403-23186403
34 SCNN1G NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) SNV Likely Benign
318360 rs745715995 GRCh37: 16:23226667-23226667
GRCh38: 16:23215346-23215346
35 SCNN1G NM_001039.4(SCNN1G):c.*659T>C SNV Benign
318371 rs9922851 GRCh37: 16:23227449-23227449
GRCh38: 16:23216128-23216128
36 SCNN1G NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) SNV Benign
318353 rs72646501 GRCh37: 16:23203830-23203830
GRCh38: 16:23192509-23192509
37 SCNN1G NM_001039.4(SCNN1G):c.*1261G>A SNV Benign
318379 rs8043698 GRCh37: 16:23228051-23228051
GRCh38: 16:23216730-23216730
38 SCNN1G NM_001039.4(SCNN1G):c.*1370G>A SNV Benign
318381 rs72647550 GRCh37: 16:23228160-23228160
GRCh38: 16:23216839-23216839
39 SCNN1G NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) SNV Benign
318349 rs145602271 GRCh37: 16:23200851-23200851
GRCh38: 16:23189530-23189530
40 SCNN1G NM_001039.4(SCNN1G):c.*491G>A SNV Benign
885325 rs146413363 GRCh37: 16:23227281-23227281
GRCh38: 16:23215960-23215960
41 SCNN1G NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) SNV Benign
886156 rs139012605 GRCh37: 16:23226701-23226701
GRCh38: 16:23215380-23215380
42 SCNN1G NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) SNV Benign
808015 rs146420892 GRCh37: 16:23224467-23224467
GRCh38: 16:23213146-23213146
43 SCNN1G NM_001039.4(SCNN1G):c.*230C>T SNV Benign
887172 rs72647546 GRCh37: 16:23227020-23227020
GRCh38: 16:23215699-23215699
44 SCNN1G NM_001039.4(SCNN1G):c.*268G>A SNV Benign
318365 rs5727 GRCh37: 16:23227058-23227058
GRCh38: 16:23215737-23215737
45 SCNN1G NM_001039.4(SCNN1G):c.*790C>T SNV Benign
318375 rs9932505 GRCh37: 16:23227580-23227580
GRCh38: 16:23216259-23216259
46 SCNN1G NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) SNV Benign
165174 rs5737 GRCh37: 16:23200923-23200923
GRCh38: 16:23189602-23189602
47 SCNN1G NM_001039.4(SCNN1G):c.1493+33T>G SNV Benign
1242641 GRCh37: 16:23224517-23224517
GRCh38: 16:23213196-23213196
48 SCNN1G NM_001039.4(SCNN1G):c.1373+29T>C SNV Benign
1245056 GRCh37: 16:23224106-23224106
GRCh38: 16:23212785-23212785
49 SCNN1G NM_001039.4(SCNN1G):c.1494-49A>G SNV Benign
1257202 GRCh37: 16:23225984-23225984
GRCh38: 16:23214663-23214663
50 SCNN1G NM_001039.4(SCNN1G):c.-23G>A SNV Benign
318345 rs762522517 GRCh37: 16:23197570-23197570
GRCh38: 16:23186249-23186249

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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