Liddle Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LIDLS MCID: LDD007 MIFTS: 56	Liddle Syndrome 1 (LIDLS) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Liddle Syndrome 1

MalaCards integrated aliases for Liddle Syndrome 1:

Name: Liddle Syndrome 1 ⁵⁷

Liddle Syndrome ⁵⁷ ³⁸ ¹² ⁷⁶ ⁵³ ²⁵ ⁵⁹ ⁷⁵ ³⁷ ¹³ ⁴⁴ ¹⁵

Pseudoaldosteronism ⁵⁷ ¹² ⁵³ ²⁵ ⁵⁹ ⁷⁵

Pseudoprimary Hyperaldosteronism ²⁵ ²⁹ ⁶

Liddle's Syndrome ¹² ⁵³

Lidls ⁵⁷ ⁷⁵

Pseudohyperaldosteronism Type 1 ⁵⁹

Pseudohyperaldosteronism ⁵⁷

Liddle Syndrome; Lidls ⁵⁷

Liddles Syndrome ⁵⁵

Syndrome, Liddle ⁴⁰

Lidls1 ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁹

liddle syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM:

⁵⁷

Inheritance:
autosomal dominant (16p)

HPO:

³²

liddle syndrome 1:
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)

ICD10: ³⁴

Diseases of the circulatory system

Hypertensive diseases

Secondary hypertension

Hypertension secondary to other renal disorders

Orphanet: ⁵⁹

Rare circulatory system diseases

Rare renal diseases

External Ids:

OMIM ⁵⁷ 177200

Disease Ontology ¹² DOID:0050477

MeSH ⁴⁴ D056929

NCIt ⁵⁰ C84827

SNOMED-CT ⁶⁸ 71275003

Orphanet ⁵⁹ ORPHA526

MESH via Orphanet ⁴⁵ D056929

UMLS via Orphanet ⁷⁴ C0221043

ICD10 via Orphanet ³⁴ I15.1

MedGen ⁴² C0221043

KEGG ³⁷ H00242

UMLS ⁷³ C0221043

Sources

Summaries for Liddle Syndrome 1

NIH Rare Diseases : ⁵³ Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Although the condition may not be associated with signs and symptoms initially, untreated hypertension can eventually lead to heart disease or stroke. Affected people may also have low levels of potassium in the blood (hypokalemia) and metabolic alkalosis. Liddle syndrome is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.

MalaCards based summary : Liddle Syndrome 1, also known as liddle syndrome, is related to hypokalemia and apparent mineralocorticoid excess. An important gene associated with Liddle Syndrome 1 is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways/superpathways are Aldosterone-regulated sodium reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include Kidney, heart and kidney, and related phenotypes are hypertension and muscle weakness

Disease Ontology : ¹² A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel.

Genetics Home Reference : ²⁵ Liddle syndrome is an inherited form of high blood pressure (hypertension). This condition is characterized by severe hypertension that begins unusually early in life, often in childhood, although some affected individuals are not diagnosed until adulthood. Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. Over time, however, untreated hypertension can lead to heart disease or stroke, which may be fatal.

OMIM : ⁵⁷ Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion (summary by Yang et al., 2014). (177200)

UniProtKB/Swiss-Prot : ⁷⁵ Liddle syndrome: An autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.

Wikipedia : ⁷⁶ Liddle''s syndrome, also called Liddle syndrome is a genetic disorder inherited in an autosomal dominant... more...

Sources

Related Diseases for Liddle Syndrome 1

Diseases in the Liddle Syndrome 1 family:

Liddle Syndrome 2

Liddle Syndrome 3

Diseases related to Liddle Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)

#	Related Disease	Score	Top Affiliating Genes
1	hypokalemia	29.8	REN NR3C2 NR3C1 HSD11B2
2	apparent mineralocorticoid excess	29.8	REN NR3C2 NR3C1 HSD11B2
3	pseudohypoaldosteronism	29.3	WNK4 SCNN1G SCNN1B SCNN1A REN NR3C2
4	liddle syndrome 2	12.6
5	liddle syndrome 3	12.4
6	hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy	11.1
7	hypoaldosteronism	10.1	REN CYP11B2
8	miliaria rubra	10.1	SCNN1G CFTR
9	bartter syndrome, type 2, antenatal	10.1	SCNN1G SCNN1B NR3C2
10	miliaria	10.1	SCNN1G CFTR
11	bronchiectasis with or without elevated sweat chloride 1	10.1	SCNN1B CFTR
12	pure autonomic failure	10.0	REN NEDD4L
13	metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	10.0
14	hepatitis	10.0
15	hypophosphatemia	10.0
16	hepatitis a	10.0
17	pneumonia	10.0
18	renal tubular acidosis	10.0	SCNN1G REN NR3C2
19	hypertensive heart disease	10.0	NR3C2 CYP11B2
20	anuria	10.0	REN NR3C2 HSD11B2
21	nephrotic syndrome	10.0
22	corticosteroid-binding globulin deficiency	9.9	NR3C1 HSD11B2
23	steroid inherited metabolic disorder	9.9	REN HSD11B2 CYP11B2
24	adult syndrome	9.9	NR3C1 HSD11B2
25	idiopathic bronchiectasis	9.9	SCNN1G SCNN1B SCNN1A CFTR
26	bronchiectasis	9.9	SCNN1G SCNN1B SCNN1A CFTR
27	endocrine organ benign neoplasm	9.9	REN CYP11B2
28	pseudohypoaldosteronism, type i, autosomal dominant	9.9	SCNN1G SCNN1B SCNN1A REN NR3C2
29	cystic fibrosis	9.8	SCNN1G SCNN1B SCNN1A CFTR
30	arthrogryposis, distal, type 3	9.8	WNK4 REN NR3C2
31	renal tubular transport disease	9.8	WNK4 SCNN1G SCNN1B REN
32	cortisone reductase deficiency	9.7	REN NR3C2 NR3C1 HSD11B2
33	pseudohypoaldosteronism, type i, autosomal recessive	9.7	SCNN1G SCNN1B SCNN1A REN NR3C2 ASIC2
34	hyperaldosteronism, familial, type i	9.6	REN NR3C2 NR3C1 HSD11B2 CYP11B2
35	adrenal cortex disease	9.6	REN NR3C2 NR3C1 HSD11B2 CYP11B2
36	adrenal gland disease	9.6	REN NR3C2 NR3C1 HSD11B2 CYP11B2
37	pseudohyperkalemia, familial, 2, due to red cell leak	9.6	WNK4 SCNN1G REN NR3C2 CYP11B2
38	conn's syndrome	9.6	REN NR3C2 NR3C1 HSD11B2 CYP11B2
39	familial hypertension	9.5	WNK4 REN NR3C2 HSD11B2 CYP11B2
40	hypertension, essential	9.2	WNK4 REN NR3C2 NR3C1 NEDD4L HSD11B2

Graphical network of the top 20 diseases related to Liddle Syndrome 1:

Sources

Symptoms & Phenotypes for Liddle Syndrome 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Endocrine:
hypertension
pseudoaldosteronism

Renal:
renal failure
renal epithelial sodium channel defect

Lab:
hypokalemia
hypoaldosteronism
decreased renin
decreased angiotensin

Metabolic:
hypokalemic alkalosis

Clinical features from OMIM:

177200

Human phenotypes related to Liddle Syndrome 1:

⁵⁹ ³² (show all 12)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertension ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000822
2	muscle weakness ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001324
3	constipation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002019
4	renal insufficiency ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000083
5	nephropathy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000112
6	hypokalemia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002900
7	fatigue ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012378
8	arrhythmia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011675
9	cerebral ischemia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002637
10	decreased circulating aldosterone level ³²			HP:0004319
11	decreased circulating renin level ³²			HP:0003351
12	hypokalemic alkalosis ³²			HP:0001949

MGI Mouse Phenotypes related to Liddle Syndrome 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.11	ASIC2 CFTR HSD11B2 NEDD4L NR3C1 NR3C2
2	homeostasis/metabolism	MP:0005376	10.11	CFTR CYP11B2 HSD11B2 NEDD4L NR3C1 NR3C2
3	cardiovascular system	MP:0005385	10.09	ASIC2 CYP11B2 HSD11B2 NEDD4L NR3C1 NR3C2
4	mortality/aging	MP:0010768	9.97	CFTR HSD11B2 NEDD4L NR3C1 NR3C2 REN
5	digestive/alimentary	MP:0005381	9.95	CFTR HSD11B2 NEDD4L NR3C1 SCNN1A SCNN1B
6	muscle	MP:0005369	9.73	ASIC2 HSD11B2 NEDD4L NR3C1 NR3C2 REN
7	normal	MP:0002873	9.7	CFTR HSD11B2 NR3C1 REN SCNN1A SCNN1B
8	renal/urinary system	MP:0005367	9.65	CYP11B2 HSD11B2 NEDD4L NR3C1 NR3C2 REN
9	respiratory system	MP:0005388	9.1	CFTR NEDD4L NR3C1 SCNN1A SCNN1B SCNN1G

Sources

Drugs & Therapeutics for Liddle Syndrome 1

Search Clinical Trials , NIH Clinical Center for Liddle Syndrome 1

Cochrane evidence based reviews: liddle syndrome

Sources

Genetic Tests for Liddle Syndrome 1

Genetic tests related to Liddle Syndrome 1:

#	Genetic test	Affiliating Genes
1	Pseudoprimary Hyperaldosteronism ²⁹	SCNN1B

Sources

Anatomical Context for Liddle Syndrome 1

MalaCards organs/tissues related to Liddle Syndrome 1:

⁴¹

Heart, Kidney, Cortex, Brain, Adrenal Gland, Adrenal Cortex

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Liddle Syndrome 1:

#	Tissue Anatomical CompartmentCell	Relevance
1	Kidney Renal Collecting Duct System Collecting Duct Cells	Affected by disease, potential therapeutic candidate

Sources

Publications for Liddle Syndrome 1

Articles related to Liddle Syndrome 1:

(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 )	Fan P...Zhou XL	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 )	BA1yA1kkaragAPz B....Ludwig M.	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 )	Polfus L.M....Gupta-Malhotra M.	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 )	Wang L.P....Zhou X.L.	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 )	Yang K.Q....Zhou X.L.	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 )	Gao L....Hu A.	2013
19	A case of Liddle Syndrome. ( 23307437 )		2013
20	Liddle syndrome in a Serbian family and literature review of underlying mutations. ( 21956615 )	BogdanoviA8 R....Ludwig M.	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 )	Rotin D.	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 )	Ciechanowicz A....Adler G.	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 )	Monnens L....Levtchenko E.	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 )	Nakano Y....Oshima T.	2002
32	Liddle syndrome in a newborn infant. ( 12185466 )		2002
33	Liddle syndrome: genetics and mechanisms of Na+ channel defects. ( 11780687 )	Warnock D.G.	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 )	Nagy Z....Luft F.C.	1999
36	Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. ( 9637708 )	Kellenberger S....Schild L.	1998
37	The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. ( 9643296 )	Jackson S.N....Trembath R.C.	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 )	Schild L....Rossier B.C.	1996
40	The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. ( 8987044 )	Schild L.	1996
41	Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. ( 8986818 )	Firsov D....Rossier B.C.	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 )	Hansson J.H....Lifton R.P.	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 )	Etzioni A.	1980
46	Liddle syndrome. ( 480019 )	Hyman P.E....Hintz R.	1979

Sources

Genes for Liddle Syndrome 1

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

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCNN1B	Sodium Channel Epithelial 1 Beta Subunit	Protein Coding	1679.78	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	9350583 8601645 9100575 (more) 9626162 15483078 7954808 8524790 16943574 19344079 20064610 15198480 11978598 9350583
2	SCNN1G	Sodium Channel Epithelial 1 Gamma Subunit	Protein Coding	379.63	Causative germline mutation (gain of function) ⁵⁹ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10720933 20064610 9325269 (more) 11463765 15198480 18691017 11014928 11978598 20376790
3	NEDD4L	Neural Precursor Cell Expressed, Developmentally Down-Regulated 4-Like, E3 Ubiquitin Protein Ligase	Protein Coding	29.2	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	19007435 18691017 16477034
4	NEDD4	Neural Precursor Cell Expressed, Developmentally Down-Regulated 4, E3 Ubiquitin Protein Ligase	Protein Coding	29.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10074483 10720933 8665844 (more) 9792722 9618557 11943747 11278712
5	SCNN1A	Sodium Channel Epithelial 1 Alpha Subunit	Protein Coding	27.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	20064610 12530930 16207733
6	NR3C2	Nuclear Receptor Subfamily 3 Group C Member 2	Protein Coding	26.41	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	12715144 15980941 11740142 (more) 12959913 12373628 11790287 12929904 8957748
7	REN	Renin	Protein Coding	26.07	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	10446938 15690192 9035163 (more) 11174896 10523338
8	CYP11B2	Cytochrome P450 Family 11 Subfamily B Member 2	Protein Coding	24.03	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	11128865
9	HSD11B2	Hydroxysteroid 11-Beta Dehydrogenase 2	Protein Coding	24.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	11701681
10	CFTR	Cystic Fibrosis Transmembrane Conductance Regulator	Protein Coding	20.76	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15513933 16738531
11	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	19.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15058025
12	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	16.29	DISEASES inferred ¹⁵
13	ASIC2	Acid Sensing Ion Channel Subunit 2	Protein Coding	16.13	DISEASES inferred ¹⁵

Sources

Variations for Liddle Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Liddle Syndrome 1:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	SCNN1B	p.Pro616Leu	VAR_007128	rs387906402
2	SCNN1B	p.Pro616Ser	VAR_007129
3	SCNN1B	p.Pro617Ser	VAR_026520	rs137852708
4	SCNN1B	p.Pro618Arg	VAR_026521	rs137852705
5	SCNN1B	p.Tyr620His	VAR_026522	rs137852707

ClinVar genetic disease variations for Liddle Syndrome 1:

⁶ (show top 50) (show all 188)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SCNN1G	NM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs5736	GRCh37	Chromosome 16, 23200921: 23200921
2	SCNN1G	NM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs5736	GRCh38	Chromosome 16, 23189600: 23189600
3	SCNN1G	NM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs5738	GRCh37	Chromosome 16, 23200963: 23200963
4	SCNN1G	NM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs5738	GRCh38	Chromosome 16, 23189642: 23189642
5	SCNN1B	NM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter)	single nucleotide variant	Pathogenic	rs137852704	GRCh37	Chromosome 16, 23391895: 23391895
6	SCNN1B	NM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter)	single nucleotide variant	Pathogenic	rs137852704	GRCh38	Chromosome 16, 23380574: 23380574
7	SCNN1B	NM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu)	single nucleotide variant	Pathogenic	rs387906402	GRCh37	Chromosome 16, 23392046: 23392046
8	SCNN1B	NM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu)	single nucleotide variant	Pathogenic	rs387906402	GRCh38	Chromosome 16, 23380725: 23380725
9	SCNN1B	NM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His)	single nucleotide variant	Pathogenic	rs137852707	GRCh37	Chromosome 16, 23392057: 23392057
10	SCNN1B	NM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His)	single nucleotide variant	Pathogenic	rs137852707	GRCh38	Chromosome 16, 23380736: 23380736
11	SCNN1B	SCNN1B, 1-BP INS, 592C	insertion	Pathogenic
12	SCNN1B	SCNN1B, 32-BP DEL	deletion	Pathogenic
13	SCNN1B	NM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser)	single nucleotide variant	Pathogenic	rs137852708	GRCh37	Chromosome 16, 23392048: 23392048
14	SCNN1B	NM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser)	single nucleotide variant	Pathogenic	rs137852708	GRCh38	Chromosome 16, 23380727: 23380727
15	SCNN1B	NM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg)	single nucleotide variant	Pathogenic	rs387906402	GRCh37	Chromosome 16, 23392046: 23392046
16	SCNN1B	NM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg)	single nucleotide variant	Pathogenic	rs387906402	GRCh38	Chromosome 16, 23380725: 23380725
17	SCNN1G	NM_001039.3(SCNN1G): c.474T> C (p.Ile158=)	single nucleotide variant	Benign	rs5735	GRCh37	Chromosome 16, 23200848: 23200848
18	SCNN1G	NM_001039.3(SCNN1G): c.474T> C (p.Ile158=)	single nucleotide variant	Benign	rs5735	GRCh38	Chromosome 16, 23189527: 23189527
19	SCNN1G	NM_001039.3(SCNN1G): c.636C> T (p.Ser212=)	single nucleotide variant	Benign/Likely benign	rs5739	GRCh38	Chromosome 16, 23192369: 23192369
20	SCNN1G	NM_001039.3(SCNN1G): c.636C> T (p.Ser212=)	single nucleotide variant	Benign/Likely benign	rs5739	GRCh37	Chromosome 16, 23203690: 23203690
21	SCNN1G	NM_001039.3(SCNN1G): c.1176+14A> G	single nucleotide variant	Benign	rs5740	GRCh37	Chromosome 16, 23221183: 23221183
22	SCNN1G	NM_001039.3(SCNN1G): c.1176+14A> G	single nucleotide variant	Benign	rs5740	GRCh38	Chromosome 16, 23209862: 23209862
23	SCNN1G	NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=)	single nucleotide variant	Benign	rs5723	GRCh37	Chromosome 16, 23226787: 23226787
24	SCNN1G	NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=)	single nucleotide variant	Benign	rs5723	GRCh38	Chromosome 16, 23215466: 23215466
25	SCNN1B	NM_000336.2(SCNN1B): c.279T> C (p.Pro93=)	single nucleotide variant	Benign	rs238547	GRCh37	Chromosome 16, 23360199: 23360199
26	SCNN1B	NM_000336.2(SCNN1B): c.279T> C (p.Pro93=)	single nucleotide variant	Benign	rs238547	GRCh38	Chromosome 16, 23348878: 23348878
27	SCNN1B	NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=)	single nucleotide variant	Likely benign	rs2303156	GRCh38	Chromosome 16, 23375806: 23375806
28	SCNN1B	NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=)	single nucleotide variant	Likely benign	rs2303156	GRCh37	Chromosome 16, 23387127: 23387127
29	SCNN1B	NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val)	single nucleotide variant	Benign	rs1799980	GRCh38	Chromosome 16, 23377219: 23377219
30	SCNN1B	NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val)	single nucleotide variant	Benign	rs1799980	GRCh37	Chromosome 16, 23388540: 23388540
31	SCNN1B	NM_000336.2(SCNN1B): c.1467-14G> A	single nucleotide variant	Benign	rs34618783	GRCh37	Chromosome 16, 23391401: 23391401
32	SCNN1B	NM_000336.2(SCNN1B): c.1467-14G> A	single nucleotide variant	Benign	rs34618783	GRCh38	Chromosome 16, 23380080: 23380080
33	SCNN1G	NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=)	single nucleotide variant	Benign	rs5734	GRCh37	Chromosome 16, 23200761: 23200761
34	SCNN1G	NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=)	single nucleotide variant	Benign	rs5734	GRCh38	Chromosome 16, 23189440: 23189440
35	SCNN1G	NM_001039.3(SCNN1G): c.549C> T (p.Gly183=)	single nucleotide variant	Benign	rs5737	GRCh37	Chromosome 16, 23200923: 23200923
36	SCNN1G	NM_001039.3(SCNN1G): c.549C> T (p.Gly183=)	single nucleotide variant	Benign	rs5737	GRCh38	Chromosome 16, 23189602: 23189602
37	SCNN1G	NM_001039.3(SCNN1G): c.1432-7G> A	single nucleotide variant	Benign	rs13306653	GRCh37	Chromosome 16, 23224416: 23224416
38	SCNN1G	NM_001039.3(SCNN1G): c.1432-7G> A	single nucleotide variant	Benign	rs13306653	GRCh38	Chromosome 16, 23213095: 23213095
39	SCNN1B	NM_000336.2(SCNN1B): c.879C> T (p.Phe293=)	single nucleotide variant	Benign	rs250563	GRCh38	Chromosome 16, 23367958: 23367958
40	SCNN1B	NM_000336.2(SCNN1B): c.879C> T (p.Phe293=)	single nucleotide variant	Benign	rs250563	GRCh37	Chromosome 16, 23379279: 23379279
41	SCNN1B	NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=)	single nucleotide variant	Benign/Likely benign	rs74012901	GRCh37	Chromosome 16, 23388704: 23388704
42	SCNN1B	NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=)	single nucleotide variant	Benign/Likely benign	rs74012901	GRCh38	Chromosome 16, 23377383: 23377383
43	SCNN1B	NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser)	single nucleotide variant	Likely benign	rs61759926	GRCh37	Chromosome 16, 23391964: 23391964
44	SCNN1B	NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser)	single nucleotide variant	Likely benign	rs61759926	GRCh38	Chromosome 16, 23380643: 23380643
45	SCNN1B	NM_000336.2(SCNN1B): c.777-5T> C	single nucleotide variant	Benign/Likely benign	rs61759915	GRCh38	Chromosome 16, 23367851: 23367851
46	SCNN1B	NM_000336.2(SCNN1B): c.777-5T> C	single nucleotide variant	Benign/Likely benign	rs61759915	GRCh37	Chromosome 16, 23379172: 23379172
47	SCNN1B	NM_000336.2(SCNN1B): c.1706C> T (p.Ala569Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140927806	GRCh37	Chromosome 16, 23391905: 23391905
48	SCNN1B	NM_000336.2(SCNN1B): c.1706C> T (p.Ala569Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140927806	GRCh38	Chromosome 16, 23380584: 23380584
49	SCNN1B	NM_000336.2(SCNN1B): c.1782G> A (p.Thr594=)	single nucleotide variant	Benign/Likely benign	rs13306628	GRCh37	Chromosome 16, 23391981: 23391981
50	SCNN1B	NM_000336.2(SCNN1B): c.1782G> A (p.Thr594=)	single nucleotide variant	Benign/Likely benign	rs13306628	GRCh38	Chromosome 16, 23380660: 23380660

Sources

Expression for Liddle Syndrome 1

Search GEO for disease gene expression data for Liddle Syndrome 1.

Sources

Pathways for Liddle Syndrome 1

Pathways related to Liddle Syndrome 1 according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Aldosterone-regulated sodium reabsorption	hsa04960

Pathways related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	13.11	ASIC2 CFTR NEDD4L SCNN1A SCNN1B SCNN1G
2	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.39	CFTR NEDD4 SCNN1A SCNN1B SCNN1G
3	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.29	ASIC2 NEDD4L SCNN1A SCNN1B SCNN1G WNK4
4	Tight junction ³⁷	11.88	CFTR NEDD4 NEDD4L
5	Taste transduction ³⁷ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶	11.76	ASIC2 SCNN1A SCNN1B SCNN1G
6	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics ⁶¹ Show member pathways ACE Inhibitor Pathway ¹ ACE Inhibitor Pathway, Pharmacodynamics ⁶¹ Renin-angiotensin system ³⁷	11.54	CYP11B2 NR3C2 REN
7	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	11.1	CFTR NEDD4 SCNN1A SCNN1B SCNN1G
8	Diuretics Pathway, Pharmacodynamics ⁶¹	10.82	NEDD4L SCNN1A SCNN1B SCNN1G WNK4
9	NO-dependent CFTR activation (normal and CF) ²²	10.67	CFTR SCNN1A SCNN1B SCNN1G
10	Aldosterone-regulated sodium reabsorption ³⁷	10.67	HSD11B2 NEDD4L NR3C2 SCNN1A SCNN1B SCNN1G

Sources

GO Terms for Liddle Syndrome 1

Cellular components related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	9.9	ASIC2 CFTR CYP11B2 HSD11B2 NEDD4 NR3C2
2	apical plasma membrane	GO:0016324	9.26	CFTR SCNN1A SCNN1B SCNN1G
3	sodium channel complex	GO:0034706	8.8	SCNN1A SCNN1B SCNN1G

Biological processes related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

(show all 17)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.8	ASIC2 CFTR SCNN1A SCNN1B SCNN1G WNK4
2	regulation of ion transmembrane transport	GO:0034765	9.72	ASIC2 NEDD4 NEDD4L
3	regulation of membrane potential	GO:0042391	9.71	ASIC2 NEDD4 NEDD4L
4	sensory perception of taste	GO:0050909	9.61	SCNN1A SCNN1B SCNN1G
5	excretion	GO:0007588	9.58	NEDD4L SCNN1B SCNN1G
6	protein monoubiquitination	GO:0006513	9.57	NEDD4 NEDD4L
7	regulation of dendrite morphogenesis	GO:0048814	9.56	NEDD4 NEDD4L
8	sodium ion transmembrane transport	GO:0035725	9.56	ASIC2 SCNN1A SCNN1B SCNN1G
9	sodium ion transport	GO:0006814	9.55	ASIC2 NEDD4L SCNN1A SCNN1B SCNN1G
10	glucocorticoid biosynthetic process	GO:0006704	9.52	CYP11B2 HSD11B2
11	negative regulation of sodium ion transmembrane transporter activity	GO:2000650	9.51	NEDD4 NEDD4L
12	glucocorticoid receptor signaling pathway	GO:0042921	9.49	NEDD4 NR3C1
13	negative regulation of sodium ion transport	GO:0010766	9.48	NEDD4 WNK4
14	regulation of potassium ion transmembrane transporter activity	GO:1901016	9.46	NEDD4 NEDD4L
15	regulation of blood volume by renal aldosterone	GO:0002017	9.37	CYP11B2 HSD11B2
16	sodium ion homeostasis	GO:0055078	9.26	CYP11B2 SCNN1A SCNN1B SCNN1G
17	multicellular organismal water homeostasis	GO:0050891	8.92	CFTR SCNN1A SCNN1B SCNN1G

Molecular functions related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sodium channel activity	GO:0005272	9.43	ASIC2 SCNN1A SCNN1G
2	chloride channel inhibitor activity	GO:0019869	9.4	CFTR WNK4
3	potassium channel inhibitor activity	GO:0019870	9.37	NEDD4L WNK4
4	WW domain binding	GO:0050699	9.33	SCNN1A SCNN1B SCNN1G
5	sodium channel inhibitor activity	GO:0019871	9.32	NEDD4 NEDD4L
6	steroid binding	GO:0005496	9.13	HSD11B2 NR3C1 NR3C2
7	ligand-gated sodium channel activity	GO:0015280	8.92	ASIC2 SCNN1A SCNN1B SCNN1G

Sources

Sources for Liddle Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Liddle Syndrome 1 (LIDLS)

Aliases & Classifications for Liddle Syndrome 1

MalaCards integrated aliases for Liddle Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Liddle Syndrome 1

Related Diseases for Liddle Syndrome 1

Diseases in the Liddle Syndrome 1 family:

Diseases related to Liddle Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Liddle Syndrome 1:

Symptoms & Phenotypes for Liddle Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Liddle Syndrome 1:

MGI Mouse Phenotypes related to Liddle Syndrome 1:

Drugs & Therapeutics for Liddle Syndrome 1

Cochrane evidence based reviews: liddle syndrome

Genetic Tests for Liddle Syndrome 1

Genetic tests related to Liddle Syndrome 1:

Anatomical Context for Liddle Syndrome 1

MalaCards organs/tissues related to Liddle Syndrome 1:

Publications for Liddle Syndrome 1

Articles related to Liddle Syndrome 1:

Genes for Liddle Syndrome 1

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

Variations for Liddle Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Liddle Syndrome 1:

ClinVar genetic disease variations for Liddle Syndrome 1:

Expression for Liddle Syndrome 1

Pathways for Liddle Syndrome 1

Pathways related to Liddle Syndrome 1 according to KEGG:

Pathways related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Liddle Syndrome 1

Cellular components related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Liddle Syndrome 1