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

LIDLS2 MCID: LDD008 MIFTS: 23	Liddle Syndrome 2 (LIDLS2) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Publications Symptoms & Phenotypes Expand all tables

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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:

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 ⁴⁴ D056929

MedGen ⁴¹ C4748251 CN253832

SNOMED-CT via HPO ⁶⁸ 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 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.

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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:

³¹

#	Description	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)

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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 ²⁹	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	A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. ⁵⁷ ⁶	Wang Y...Hui R	17634077	2007
2	Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. ⁵⁷ ⁶	Hiltunen TP...Kontula K	12473862	2002
3	Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. ⁵⁷ ⁶	Hansson JH...Lifton RP	7550319	1995
4	[Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese]. ⁶	Shi JY...Tian HM	20376790	2010
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	1043.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	7550319

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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

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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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⁷¹ UMLS via Orphanet

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Liddle Syndrome 2 (LIDLS2)

Aliases & Classifications for Liddle Syndrome 2

MalaCards integrated aliases for Liddle Syndrome 2:

Characteristics:

OMIM®:

HPO:

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