LIDLS2
MCID: LDD008
MIFTS: 23

Liddle Syndrome 2 (LIDLS2)

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 72 29 6
Lidls2 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
liddle syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618114
OMIM Phenotypic Series 57 PS177200
MeSH 44 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 05-Apr-2021)

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 : 72 Liddle syndrome 2: 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:

31
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 hypokalemia 31 HP:0002900
3 decreased circulating renin level 31 HP:0003351
4 metabolic alkalosis 31 HP:0200114

Symptoms via clinical synopsis from OMIM®:

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

Endocrine Features:
low plasma renin activity
low plasma aldosterone level

Metabolic Features:
hypokalemia
metabolic alkalosis

Clinical features from OMIM®:

618114 (Updated 05-Apr-2021)

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 29 SCNN1G

Anatomical Context for Liddle Syndrome 2

Publications for Liddle Syndrome 2

Articles related to Liddle Syndrome 2:

# Title Authors PMID Year
1
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. 57 6
17634077 2007
2
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. 57 6
12473862 2002
3
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. 57 6
7550319 1995
4
[Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese]. 6
20376790 2010
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:

6 (show top 50) (show all 72)
# 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 Q567* SNV Pathogenic 561163 GRCh37:
GRCh38:
3 SCNN1G N530S SNV Pathogenic 565276 GRCh37:
GRCh38:
4 SCNN1G NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) Deletion Pathogenic 565277 rs1567270184 GRCh37: 16:23226589-23226593
GRCh38: 16:23215268-23215272
5 SCNN1G NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) Duplication Likely pathogenic 804476 rs1596760831 GRCh37: 16:23197731-23197732
GRCh38: 16:23186410-23186411
6 SCNN1G NM_001039.4(SCNN1G):c.*1287C>T SNV Uncertain significance 884266 GRCh37: 16:23228077-23228077
GRCh38: 16:23216756-23216756
7 SCNN1G NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln) SNV Uncertain significance 885190 GRCh37: 16:23200963-23200963
GRCh38: 16:23189642-23189642
8 SCNN1G NM_001039.4(SCNN1G):c.1724G>C (p.Trp575Ser) SNV Uncertain significance 885259 GRCh37: 16:23226564-23226564
GRCh38: 16:23215243-23215243
9 SCNN1G NM_001039.4(SCNN1G):c.1841C>T (p.Ala614Val) SNV Uncertain significance 885260 GRCh37: 16:23226681-23226681
GRCh38: 16:23215360-23215360
10 SCNN1G NM_001039.4(SCNN1G):c.*591G>T SNV Uncertain significance 885326 GRCh37: 16:23227381-23227381
GRCh38: 16:23216060-23216060
11 SCNN1G NM_001039.4(SCNN1G):c.48C>T (p.Pro16=) SNV Uncertain significance 885119 GRCh37: 16:23197640-23197640
GRCh38: 16:23186319-23186319
12 SCNN1G NM_001039.4(SCNN1G):c.940G>A (p.Glu314Lys) SNV Uncertain significance 886092 GRCh37: 16:23208611-23208611
GRCh38: 16:23197290-23197290
13 SCNN1G NM_001039.4(SCNN1G):c.*789T>G SNV Uncertain significance 886233 GRCh37: 16:23227579-23227579
GRCh38: 16:23216258-23216258
14 SCNN1G NM_001039.4(SCNN1G):c.*909C>T SNV Uncertain significance 887236 GRCh37: 16:23227699-23227699
GRCh38: 16:23216378-23216378
15 SCNN1G NM_001039.4(SCNN1G):c.1563C>T (p.Ala521=) SNV Uncertain significance 888366 GRCh37: 16:23226102-23226102
GRCh38: 16:23214781-23214781
16 SCNN1G NM_001039.4(SCNN1G):c.*393T>C SNV Uncertain significance 888427 GRCh37: 16:23227183-23227183
GRCh38: 16:23215862-23215862
17 SCNN1G NM_001039.4(SCNN1G):c.*1243C>T SNV Uncertain significance 888488 GRCh37: 16:23228033-23228033
GRCh38: 16:23216712-23216712
18 SCNN1G NM_001039.4(SCNN1G):c.*1273C>T SNV Uncertain significance 884265 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.*99C>T SNV Uncertain significance 886157 GRCh37: 16:23226889-23226889
GRCh38: 16:23215568-23215568
21 SCNN1G NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) SNV Uncertain significance 318348 rs754747376 GRCh37: 16:23200820-23200820
GRCh38: 16:23189499-23189499
22 SCNN1G NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) SNV Uncertain significance 318355 rs202142122 GRCh37: 16:23223365-23223365
GRCh38: 16:23212044-23212044
23 SCNN1G NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) SNV Uncertain significance 318352 rs886051800 GRCh37: 16:23203717-23203717
GRCh38: 16:23192396-23192396
24 SCNN1G NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) SNV Uncertain significance 318354 rs752432261 GRCh37: 16:23221076-23221076
GRCh38: 16:23209755-23209755
25 SCNN1G NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) SNV Uncertain significance 318351 rs546893551 GRCh37: 16:23200913-23200913
GRCh38: 16:23189592-23189592
26 SCNN1G NM_001039.4(SCNN1G):c.*979T>C SNV Uncertain significance 318376 rs540231207 GRCh37: 16:23227769-23227769
GRCh38: 16:23216448-23216448
27 SCNN1G NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) SNV Uncertain significance 318356 rs886051801 GRCh37: 16:23224162-23224162
GRCh38: 16:23212841-23212841
28 SCNN1G NM_001039.4(SCNN1G):c.*584G>A SNV Uncertain significance 318368 rs886051802 GRCh37: 16:23227374-23227374
GRCh38: 16:23216053-23216053
29 SCNN1G NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) SNV Likely benign 8829 rs5738 GRCh37: 16:23200963-23200963
GRCh38: 16:23189642-23189642
30 SCNN1G NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) SNV Likely benign 318346 rs200985912 GRCh37: 16:23200773-23200773
GRCh38: 16:23189452-23189452
31 SCNN1G NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) SNV Likely benign 318350 rs763601481 GRCh37: 16:23200912-23200912
GRCh38: 16:23189591-23189591
32 SCNN1G NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) SNV Likely benign 8828 rs5736 GRCh37: 16:23200921-23200921
GRCh38: 16:23189600-23189600
33 SCNN1G NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) SNV Likely benign 318359 rs148985177 GRCh37: 16:23226429-23226429
GRCh38: 16:23215108-23215108
34 SCNN1G NM_001039.4(SCNN1G):c.132C>T (p.Ile44=) SNV Likely benign 886034 GRCh37: 16:23197724-23197724
GRCh38: 16:23186403-23186403
35 SCNN1G NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) SNV Likely benign 318360 rs745715995 GRCh37: 16:23226667-23226667
GRCh38: 16:23215346-23215346
36 SCNN1G NM_001039.4(SCNN1G):c.*659T>C SNV Benign 318371 rs9922851 GRCh37: 16:23227449-23227449
GRCh38: 16:23216128-23216128
37 SCNN1G NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) SNV Benign 318353 rs72646501 GRCh37: 16:23203830-23203830
GRCh38: 16:23192509-23192509
38 SCNN1G NM_001039.4(SCNN1G):c.*1261G>A SNV Benign 318379 rs8043698 GRCh37: 16:23228051-23228051
GRCh38: 16:23216730-23216730
39 SCNN1G NM_001039.4(SCNN1G):c.*1370G>A SNV Benign 318381 rs72647550 GRCh37: 16:23228160-23228160
GRCh38: 16:23216839-23216839
40 SCNN1G NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) SNV Benign 318349 rs145602271 GRCh37: 16:23200851-23200851
GRCh38: 16:23189530-23189530
41 SCNN1G NM_001039.4(SCNN1G):c.1861G>A (p.Gly621Ser) SNV Benign 886156 GRCh37: 16:23226701-23226701
GRCh38: 16:23215380-23215380
42 SCNN1G NM_001039.4(SCNN1G):c.*491G>A SNV Benign 885325 GRCh37: 16:23227281-23227281
GRCh38: 16:23215960-23215960
43 SCNN1G NM_001039.4(SCNN1G):c.*230C>T SNV Benign 887172 GRCh37: 16:23227020-23227020
GRCh38: 16:23215699-23215699
44 SCNN1G NM_001039.4(SCNN1G):c.1476A>G (p.Val492=) SNV Benign 808015 rs146420892 GRCh37: 16:23224467-23224467
GRCh38: 16:23213146-23213146
45 SCNN1G NM_001039.4(SCNN1G):c.*1147A>G SNV Benign 318377 rs80081880 GRCh37: 16:23227937-23227937
GRCh38: 16:23216616-23216616
46 SCNN1G NM_001039.4(SCNN1G):c.1432-7G>A SNV Benign 165175 rs13306653 GRCh37: 16:23224416-23224416
GRCh38: 16:23213095-23213095
47 SCNN1G NM_001039.4(SCNN1G):c.1569+10G>A SNV Benign 318358 rs13306659 GRCh37: 16:23226118-23226118
GRCh38: 16:23214797-23214797
48 SCNN1G NM_001039.4(SCNN1G):c.-44-4C>G SNV Benign 318343 rs5731 GRCh37: 16:23197545-23197545
GRCh38: 16:23186224-23186224
49 SCNN1G NM_001039.4(SCNN1G):c.-31A>G SNV Benign 318344 rs5732 GRCh37: 16:23197562-23197562
GRCh38: 16:23186241-23186241
50 SCNN1G NM_001039.4(SCNN1G):c.*328G>A SNV Benign 318366 rs56153525 GRCh37: 16:23227118-23227118
GRCh38: 16:23215797-23215797

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 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
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39 LOVD
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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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