Liddle Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Cardiovascular diseases Nephrological diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618114

OMIM Phenotypic Series ⁵⁷ PS177200

MeSH ⁴³ D056929

MedGen ⁴⁰ C4748251 CN253832

SNOMED-CT via HPO ⁶⁹ 1388004 166690008 24184005 more

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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.

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Related Diseases for Liddle Syndrome 2

Diseases in the Liddle Syndrome 1 family:

Liddle Syndrome 2

Liddle Syndrome 3

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Symptoms & Phenotypes for Liddle Syndrome 2

Human phenotypes related to Liddle Syndrome 2:

³⁰

#	Description	HPO 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)

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Drugs & Therapeutics for Liddle Syndrome 2

Search Clinical Trials, NIH Clinical Center for Liddle Syndrome 2

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Genetic Tests for Liddle Syndrome 2

Genetic tests related to Liddle Syndrome 2:

#	Genetic test	Affiliating Genes
1	Liddle Syndrome 2 ²⁸	SCNN1G

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Anatomical Context for Liddle Syndrome 2

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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	Shi JY...Tian HM	20376790	2010
2	A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. ⁵⁷ ⁵	Wang Y...Hui R	17634077	2007
3	Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. ⁵⁷ ⁵	Hiltunen TP...Kontula K	12473862	2002
4	Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. ⁵⁷ ⁵	Hansson JH...Lifton RP	7550319	1995
5	Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. ⁵⁷	Snyder PM...Welsh MJ	8521520	1995

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Genes for Liddle Syndrome 2

Genes related to Liddle Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SCNN1G	Sodium Channel Epithelial 1 Subunit Gamma	Protein Coding	1032.62	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	7550319 17634077 20376790

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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

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Expression for Liddle Syndrome 2

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

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Pathways for Liddle Syndrome 2

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GO Terms for Liddle Syndrome 2

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Sources for Liddle Syndrome 2

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⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LIDLS2 MCID: LDD008 MIFTS: 23	Liddle Syndrome 2 (LIDLS2) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Publications Symptoms & Phenotypes Expand all tables

Liddle Syndrome 2 (LIDLS2)

Aliases & Classifications for Liddle Syndrome 2

MalaCards integrated aliases for Liddle Syndrome 2:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Liddle Syndrome 2

Related Diseases for Liddle Syndrome 2

Diseases in the Liddle Syndrome 1 family:

Symptoms & Phenotypes for Liddle Syndrome 2

Human phenotypes related to Liddle Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Liddle Syndrome 2

Genetic Tests for Liddle Syndrome 2

Genetic tests related to Liddle Syndrome 2:

Anatomical Context for Liddle Syndrome 2

Publications for Liddle Syndrome 2

Articles related to Liddle Syndrome 2:

Genes for Liddle Syndrome 2

Genes related to Liddle Syndrome 2 (1 elite genes):

Variations for Liddle Syndrome 2

ClinVar genetic disease variations for Liddle Syndrome 2:

Expression for Liddle Syndrome 2

Pathways for Liddle Syndrome 2

GO Terms for Liddle Syndrome 2

Sources for Liddle Syndrome 2