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

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Aliases & Classifications for Liddle Syndrome 1

MalaCards integrated aliases for Liddle Syndrome 1:

Name: Liddle Syndrome 1 ⁵⁷ ⁷³ ²⁸ ⁵

Liddle Syndrome ⁵⁷ ¹¹ ¹⁹ ⁴² ⁵⁸ ⁷⁵ ⁷³ ²⁸ ¹² ⁴³ ¹⁴ ³⁸ ⁷¹

Pseudoaldosteronism ⁵⁷ ¹¹ ¹⁹ ⁴² ⁵⁸ ⁷³

Liddle's Syndrome ¹¹ ¹⁹ ⁷⁵

Pseudoprimary Hyperaldosteronism ⁴² ⁷¹

Pseudohyperaldosteronism ⁵⁷ ⁷³

Lidls1 ⁵⁷ ⁷³

Lidls ⁵⁷ ⁷³

Pseudohyperaldosteronism Type 1 ⁵⁸

Liddles Syndrome ⁵³

Characteristics:

Inheritance:

Liddle Syndrome 1: Autosomal dominant ⁵⁷

Liddle Syndrome: Autosomal dominant ⁵⁸

Age Of Onset:

Liddle Syndrome: Adolescent,Adult,Childhood,Infancy ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable severity within families
phenotype ameliorated by low-salt diet and antagonists of the epithelial channel of the distal nephron
no improvement with antagonists of the mineralocorticoid receptor
sequelae of long-term hypertension, such as myocardial infarction, stroke, and renal failure, have been observed in affected individuals

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the circulatory system

Hypertensive diseases

Secondary hypertension

Hypertension secondary to other renal disorders

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare renal diseases

External Ids:

Disease Ontology ¹¹ DOID:0050477

OMIM® ⁵⁷ 177200

OMIM Phenotypic Series ⁵⁷ PS177200

MeSH ⁴³ D056929

NCIt ⁴⁹ C84827

SNOMED-CT ⁶⁸ 707749005

MESH via Orphanet ⁴⁴ D056929

ICD10 via Orphanet ³² I15.1

UMLS via Orphanet ⁷² C0221043

Orphanet ⁵⁸ ORPHA526

MedGen ⁴⁰ C0221043

UMLS ⁷¹ C0221043 C3854315

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Summaries for Liddle Syndrome 1

MedlinePlus Genetics: ⁴² 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.In addition to hypertension, affected individuals can have low levels of potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include muscle weakness or pain, fatigue, constipation, or heart palpitations. The shortage of potassium can also raise the pH of the blood, a condition known as metabolic alkalosis.

MalaCards based summary: Liddle Syndrome 1, also known as liddle syndrome, is related to hypertension, essential and pseudohypoaldosteronism type 1. An important gene associated with Liddle Syndrome 1 is SCNN1B (Sodium Channel Epithelial 1 Subunit Beta), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include Kidney, heart and liver, and related phenotypes are constipation and hypertension

GARD: ¹⁹ Liddle syndrome is a rare, inherited condition that is primarily characterized by severe high blood pressure (hypertension) that often develops at an early age. Affected people may also have low levels of potassium in the blood (hypokalemia) and metabolic alkalosis. Liddle syndrome is caused by genetic changes in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner.

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) (Updated 08-Dec-2022)

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.

Disease Ontology: ¹¹ 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.

Orphanet: ⁵⁸ A rare genetic form of low-renin hypertension characterized by hypertension associated with decreased plasma levels of potassium and aldosterone.

Wikipedia: ⁷⁵ Liddle's syndrome, also called Liddle syndrome, is a genetic disorder inherited in an autosomal dominant... more...

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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 top 50) (show all 135)

#	Related Disease	Score	Top Affiliating Genes
1	hypertension, essential	31.1	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
2	pseudohypoaldosteronism type 1	30.9	SCNN1B SCNN1A
3	hypokalemia	30.9	WNK4 SLC12A3 REN NR3C2 NR3C1 KCNJ1
4	hypoaldosteronism	30.5	REN CYP11B2
5	adrenal adenoma	30.3	REN NR3C2 HSD11B2 CYP11B2
6	nephrocalcinosis	30.3	SLC12A3 KCNJ1 HSD11B2
7	cystic fibrosis	30.3	SGK1 SCNN1G SCNN1B SCNN1A KCNJ1 CFTR
8	bartter disease	30.3	WNK4 WNK1 SLC12A3 SCNN1B REN KCNJ1
9	apparent mineralocorticoid excess	30.3	WNK4 SLC12A3 SCNN1B REN NR3C2 KCNJ1
10	metabolic acidosis	30.1	WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
11	conn's syndrome	30.1	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
12	gitelman syndrome	30.1	WNK4 WNK1 SLC12A3 REN KCNJ1
13	hyperaldosteronism, familial, type i	29.9	WNK4 WNK1 SCNN1G SCNN1B REN NR3C2
14	pseudohypoaldosteronism	29.7	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
15	pseudohypoaldosteronism, type ib1, autosomal recessive	29.5	WNK4 WNK1 SCNN1G SCNN1B SCNN1A REN
16	liddle syndrome 2	11.7
17	liddle syndrome 3	11.7
18	hypertension due to gain-of-function mutations in the mineralocorticoid receptor	11.2
19	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.6
20	hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	10.4
21	hypertensive retinopathy	10.3	REN NR3C2
22	corticosterone methyloxidase type i deficiency	10.3	SCNN1G REN CYP11B2
23	anuria	10.3	REN NR3C2 HSD11B2
24	hypertensive heart disease	10.3	REN NR3C2 CYP11B2
25	corticosteroid-binding globulin deficiency	10.3	NR3C1 HSD11B2
26	bronchiectasis with or without elevated sweat chloride 1	10.3	SCNN1B CFTR
27	idiopathic bronchiectasis	10.3	SCNN1G SCNN1B SCNN1A CFTR
28	adult syndrome	10.3	REN NR3C1 HSD11B2
29	hyperpigmentation with or without hypopigmentation, familial progressive	10.3	ASIC5 ASIC2
30	adrenal cortex disease	10.3	REN NR3C1 CYP11B2
31	bronchiectasis	10.3	SCNN1G SCNN1B SCNN1A CFTR
32	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	10.3	UBE2S UBE2K
33	pure autonomic failure	10.3	REN NEDD4L
34	atypical depressive disorder	10.3	NR3C2 NR3C1
35	endocrine organ benign neoplasm	10.3	REN NR3C2 CYP11B2
36	hypomagnesemia 3, renal	10.3	SLC12A3 KCNJ1
37	adrenal carcinoma	10.3	REN NR3C2 CYP11B2
38	malignant secondary hypertension	10.3	REN CYP11B2
39	bartter syndrome, type 3	10.3	SLC12A3 REN KCNJ1
40	supine hypotensive syndrome	10.3	REN NR3C2
41	renal tubular acidosis	10.3	WNK4 SLC12A3 REN
42	uterine adnexa cancer	10.3	UBE2S UBE2K
43	hypokalemic periodic paralysis, type 1	10.3	SLC12A3 REN KCNJ1
44	bartter syndrome, type 2, antenatal	10.3	WNK1 SCNN1G SCNN1B KCNJ1
45	myopathy	10.3
46	polyhydramnios	10.3	SLC12A3 REN KCNJ1
47	hyperchlorhidrosis, isolated	10.3	SCNN1G SCNN1B SCNN1A NR3C2 CFTR
48	left bundle branch hemiblock	10.3	REN NR3C2
49	miliaria	10.2	SLC12A3 SCNN1G SCNN1B SCNN1A NR3C2
50	steroid inherited metabolic disorder	10.2	SCNN1G REN NR3C2 HSD11B2 CYP11B2

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

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Symptoms & Phenotypes for Liddle Syndrome 1

Human phenotypes related to Liddle Syndrome 1:

⁵⁸ ³⁰ (show all 13)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	constipation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002019
2	hypertension ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000822
3	hypokalemia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002900
4	arrhythmia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0011675
5	muscle weakness ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001324
6	nephropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000112
7	fatigue ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012378
8	renal insufficiency ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000083
9	cerebral ischemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002637
10	decreased circulating aldosterone level ³⁰			HP:0004319
11	metabolic alkalosis ³⁰			HP:0200114
12	decreased circulating renin level ³⁰			HP:0003351
13	hypokalemic alkalosis ³⁰			HP:0001949

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Metabolic Features:
metabolic alkalosis
hypokalemia (in some patients)

Cardiovascular Vascular:
hypertension, mild to severe

Endocrine Features:
low plasma renin activity
low plasma aldosterone level

Clinical features from OMIM®:

177200 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.19	ASIC2 ASIC5 CFTR CYP11B2 HSD11B2 KCNJ1
2	no effect	GR00402-S-2	10.19	ASIC2 ASIC5 CFTR HSD11B2 KCNJ1 NEDD4
3	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.73	REN SCNN1G SGK1 UBE2K UBE2S
4	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.73	CFTR REN SCNN1G SGK1 UBE2K UBE2S
5	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.73	SCNN1G

MGI Mouse Phenotypes related to Liddle Syndrome 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system	MP:0005367	10.31	ASIC2 CYP11B2 HSD11B2 KCNJ1 NEDD4L NR3C1
2	homeostasis/metabolism	MP:0005376	10.3	ASIC2 CFTR CYP11B2 HSD11B2 KCNJ1 NEDD4
3	growth/size/body region	MP:0005378	10.13	ASIC5 CFTR CYP11B2 KCNJ1 NEDD4 NR3C1
4	normal	MP:0002873	10.06	ASIC5 CFTR HSD11B2 NR3C1 REN SCNN1A
5	muscle	MP:0005369	10.06	ASIC2 CYP11B2 HSD11B2 NEDD4 NEDD4L NR3C1
6	cardiovascular system	MP:0005385	10	ASIC2 CYP11B2 HSD11B2 KCNJ1 NEDD4 NEDD4L
7	digestive/alimentary	MP:0005381	9.86	CFTR HSD11B2 NEDD4 NEDD4L NR3C1 SCNN1A
8	behavior/neurological	MP:0005386	9.73	ASIC2 CFTR CYP11B2 HSD11B2 KCNJ1 NEDD4
9	mortality/aging	MP:0010768	9.47	CFTR CYP11B2 HSD11B2 KCNJ1 NEDD4 NEDD4L

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Drugs & Therapeutics for Liddle Syndrome 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension	Suspended	NCT00448162

Search NIH Clinical Center for Liddle Syndrome 1

Cochrane evidence based reviews: liddle syndrome

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Genetic Tests for Liddle Syndrome 1

Genetic tests related to Liddle Syndrome 1:

#	Genetic test	Affiliating Genes
1	Liddle Syndrome 1 ²⁸	SCNN1B
2	Liddle Syndrome ²⁸

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Anatomical Context for Liddle Syndrome 1

Organs/tissues related to Liddle Syndrome 1:

MalaCards : Kidney, Heart, Liver, Brain, Skin, Prostate, Pituitary

ODiseA: Kidney

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

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Publications for Liddle Syndrome 1

Articles related to Liddle Syndrome 1:

(show top 50) (show all 590)

#	Title	Authors	PMID	Year
1	Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. ⁵³ ⁶² ⁵⁷ ⁵	Jeunemaitre X...Barbry P	9350583	1997
2	Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. ⁶² ⁵⁷ ⁵	Furuhashi M...Shimamoto K	15483078	2005
3	A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. ⁶² ⁵⁷ ⁵	Inoue J...Tomita K	9626162	1998
4	Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. ⁶² ⁵⁷ ⁵	Findling JW...Lifton RP	9100575	1997
5	Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. ⁶² ⁵⁷ ⁵	Tamura H...Rossier BC	8601645	1996
6	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. ⁶² ⁵⁷ ⁵	Hansson JH...Lifton RP	8524790	1995
7	Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. ⁶² ⁵⁷ ⁵	Shimkets RA...Findling JW	7954808	1994
8	Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. ⁵³ ⁶² ⁵⁷	Abriel H...Staub O	10074483	1999
9	Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. ⁶² ⁵	Polfus LM...Gupta-Malhotra M	27900368	2016
10	Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. ⁶² ⁵⁷	Hanukoglu I...Hanukoglu A	26772908	2016
11	Molecular genetics of Liddle's syndrome. ⁶² ⁵⁷	Yang KQ...Zhou XL	24882431	2014
12	A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy. ⁶² ⁵	Caretto A...Rondinelli M	25210634	2014
13	A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome. ⁶² ⁵	Rossi E...Casali B	21525970	2011
14	Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit. ⁶² ⁵	Rossi E...Staub O	18398334	2008
15	Abnormalities of nasal potential difference measurement in Liddle's syndrome. ⁶² ⁵⁷	Baker E...MacGregor G	9649551	1998
16	Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. ⁶² ⁵⁷	Snyder PM...Welsh MJ	8521520	1995
17	Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule. ⁶² ⁵⁷	Botero-Velez M...Warnock DG	8264740	1994
18	Liddle's syndrome, an uncommon form of hyporeninemic hypoaldosteronism: functional and histopathological studies. ⁶² ⁵⁷	Nakada T...Shigematsu H	3550146	1987
19	The effect of triamterene and sodium intake on renin, aldosterone, and erythrocyte sodium transport in Liddle's syndrome. ⁶² ⁵⁷	Wang C...Stockigt JR	6262354	1981
20	Pseudohyperaldosteronism with renal tubular resistance to mineralocorticoid hormones. ⁶² ⁵⁷	Rodriguez JA...Schambelan M	7046191	1981
21	Abnormal membrane sodium transport in Liddle's syndrome. ⁶² ⁵⁷	Gardner JD...Bravo EL	4328882	1971
22	Genetic disorders of renal electrolyte transport. ⁵⁷	Scheinman SJ...Warnock DG	10202170	1999
23	[Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese]. ⁵³ ⁶²	Shi JY...Tian HM	20376790	2010
24	Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. ⁵³ ⁶²	Edelheit O...Hanukoglu A	20064610	2010
25	A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome. ⁵³ ⁶²	Sawathiparnich P...Limwongse C	19344079	2009
26	Role of the UPS in Liddle syndrome. ⁵³ ⁶²	Rotin D	19007435	2008
27	ENaC and its regulatory proteins as drug targets for blood pressure control. ⁵³ ⁶²	Rotin D...Schild L	18691017	2008
28	Mutation analysis of SCNN1B in a family with Liddle's syndrome. ⁵³ ⁶²	Wang W...Ning G	16943574	2006
29	Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage. ⁵³ ⁶²	Knight KK...Snyder PM	16477034	2006
30	Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. ⁵³ ⁶²	Sheridan MB...Cutting GR	16207733	2005
31	Renal tubular transport and the genetic basis of hypertensive disease. ⁵³ ⁶²	Lang F...Waldegger S	15980941	2005
32	A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. ⁵³ ⁶²	Freundlich M...Ludwig M	15690192	2005
33	Vasopressin-stimulated CFTR Cl- currents are increased in the renal collecting duct cells of a mouse model of Liddle's syndrome. ⁵³ ⁶²	Chang CT...Vandewalle A	15513933	2005
34	[Regulation by vasopressin of NaCl absorption in the renal collecting duct]. ⁵³ ⁶²	Vandewalle A	16738531	2005
35	Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives. ⁵³ ⁶²	Kamide K...Miyata T	15198480	2004
36	Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. ⁵³ ⁶²	Luft FC...Bahring S	12959913	2003
37	Investigating mineralocorticoid hypertension. ⁵³ ⁶²	Nussberger J	12929904	2003
38	[Monogenic hypertension]. ⁵³ ⁶²	Bahr V...Diederich S	12715144	2003
39	Epithelial sodium channel, salt intake, and hypertension. ⁵³ ⁶²	Hummler E	12530930	2003
40	[Monogenic hypertension]. ⁵³ ⁶²	Lacka B...Grzeszczak W	15058025	2003
41	History of the endocrine effects of licorice. ⁵³ ⁶²	Armanini D...Palermo M	12373628	2002
42	Use of constant denaturant capillary electrophoresis of pooled blood samples to identify single-nucleotide polymorphisms in the genes (Scnn1a and Scnn1b) encoding the alpha and beta subunits of the epithelial sodium channel. ⁵³ ⁶²	Xue MZ...Leong-Morgenthaler PM	11978598	2002
43	The epithelial Na+ channel: cell surface insertion and retrieval in Na+ homeostasis and hypertension. ⁵³ ⁶²	Snyder PM	11943747	2002
44	Genetics of the mineralocorticoid system in primary hypertension. ⁵³ ⁶²	Ferrari P	11790287	2002
45	Alteration of the activity of the 11beta-hydroxysteroid dehydrogenase in pregnancy: relevance for the development of pregnancy-induced hypertension? ⁵³ ⁶²	Heilmann P...Ziegler R	11701681	2001
46	Association of sodium channel gamma-subunit promoter variant with blood pressure. ⁵³ ⁶²	Iwai N...Ogata J	11463765	2001
47	Enac degradation in A6 cells by the ubiquitin-proteosome proteolytic pathway. ⁵³ ⁶²	Malik B...Eaton DC	11278712	2001
48	Juvenile hypertension, the role of genetically altered steroid metabolism. ⁵³ ⁶²	Ferrari P...Frey FJ	11740142	2001
49	Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. ⁵³ ⁶²	Oh YS...Warnock DG	11014928	2000
50	Genetic determination of human essential hypertension. ⁵³ ⁶²	Matsubara M	11128865	2000

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Genes for Liddle Syndrome 1

Genes related to Liddle Syndrome 1 (3 elite genes):

(show all 39)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SCNN1B	Sodium Channel Epithelial 1 Subunit Beta	Protein Coding	1677.78	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	7954808 8524790 8601645 (more) 9100575 9350583 9626162 15483078 18398334 21525970 25210634 27900368 16943574 19344079 20064610 15198480 11978598
2	SCNN1G	Sodium Channel Epithelial 1 Subunit Gamma	Protein Coding	369.84	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10720933 20064610 9325269 (more) 11463765 15198480 18691017 11014928 11978598 20376790
3	SCNN1A	Sodium Channel Epithelial 1 Subunit Alpha	Protein Coding	368.27	Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	28710092 20064610 12530930 (more) 16207733
4	NEDD4L	NEDD4 Like E3 Ubiquitin Protein Ligase	Protein Coding	19.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19007435 18691017 16477034
5	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	18.82	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10074483 10720933 8665844 (more) 9792722 9618557 11943747 11278712
6	NR3C2	Nuclear Receptor Subfamily 3 Group C Member 2	Protein Coding	17.09	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12715144 15980941 11740142 (more) 12959913 12373628 11790287 12929904 8957748
7	REN	Renin	Protein Coding	16.42	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10446938 15690192 9035163 (more) 11174896 10523338
8	CYP11B2	Cytochrome P450 Family 11 Subfamily B Member 2	Protein Coding	14.78	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11128865
9	ASIC5	Acid Sensing Ion Channel Subunit Family Member 5	Protein Coding	14.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9244833
10	HSD11B2	Hydroxysteroid 11-Beta Dehydrogenase 2	Protein Coding	13.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11701681
11	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	11.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15513933 16738531
12	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	9.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15058025
13	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	7.21	DISEASES inferred ¹⁴
14	KCNJ1	Potassium Inwardly Rectifying Channel Subfamily J Member 1	Protein Coding	7.11	DISEASES inferred ¹⁴
15	ASIC2	Acid Sensing Ion Channel Subunit 2	Protein Coding	6.95	DISEASES inferred ¹⁴
16	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	6.79	DISEASES inferred ¹⁴
17	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	6.79	DISEASES inferred ¹⁴
18	UBE2K	Ubiquitin Conjugating Enzyme E2 K	Protein Coding	6.58	DISEASES inferred ¹⁴
19	UBE2S	Ubiquitin Conjugating Enzyme E2 S	Protein Coding	6.57	DISEASES inferred ¹⁴
20	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	6.55	DISEASES inferred ¹⁴
21	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	6.53	DISEASES inferred ¹⁴
22	KLHL3	Kelch Like Family Member 3	Protein Coding	6.4	DISEASES inferred ¹⁴
23	SCNN1D	Sodium Channel Epithelial 1 Subunit Delta	Protein Coding	6.05	DISEASES inferred ¹⁴
24	PRSS8	Serine Protease 8	Protein Coding	6	DISEASES inferred ¹⁴
25	CYP11B1	Cytochrome P450 Family 11 Subfamily B Member 1	Protein Coding	5.97	DISEASES inferred ¹⁴
26	AQP2	Aquaporin 2	Protein Coding	5.97	DISEASES inferred ¹⁴
27	AGT	Angiotensinogen	Protein Coding	5.94	DISEASES inferred ¹⁴
28	STK39	Serine/Threonine Kinase 39	Protein Coding	5.79	DISEASES inferred ¹⁴
29	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	5.66	DISEASES inferred ¹⁴
30	ADD1	Adducin 1	Protein Coding	5.65	DISEASES inferred ¹⁴
31	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	5.63	DISEASES inferred ¹⁴
32	ASIC1	Acid Sensing Ion Channel Subunit 1	Protein Coding	5.6	DISEASES inferred ¹⁴
33	POMC	Proopiomelanocortin	Protein Coding	5.48	DISEASES inferred ¹⁴
34	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	5.4	DISEASES inferred ¹⁴
35	USP2	Ubiquitin Specific Peptidase 2	Protein Coding	5.37	DISEASES inferred ¹⁴
36	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	5.36	DISEASES inferred ¹⁴
37	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	5.33	DISEASES inferred ¹⁴
38	UMOD	Uromodulin	Protein Coding	5.33	DISEASES inferred ¹⁴
39	MLLT6	MLLT6, PHD Finger Containing	Protein Coding	5.32	DISEASES inferred ¹⁴

Sources

Variations for Liddle Syndrome 1

ClinVar genetic disease variations for Liddle Syndrome 1:

⁵ (show top 50) (show all 77)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SCNN1B	NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu)	SNV	Pathogenic	8831	rs387906402	GRCh37: 16:23392046-23392046 GRCh38: 16:23380725-23380725
2	SCNN1B	NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His)	SNV	Pathogenic	8833	rs137852707	GRCh37: 16:23392057-23392057 GRCh38: 16:23380736-23380736
3	SCNN1B	SCNN1B, 1-BP INS, 592C	INSERT	Pathogenic	8834		GRCh37: GRCh38:
4	SCNN1B	NM_000336.3(SCNN1B):c.1735_1766del (p.Ala579Leufs*4)	DEL	Pathogenic	8835		GRCh37: 16:23391933-23391964 GRCh38: 16:23380612-23380643
5	SCNN1B	NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser)	SNV	Pathogenic	8836	rs137852708	GRCh37: 16:23392048-23392048 GRCh38: 16:23380727-23380727
6	SCNN1B	NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg)	SNV	Pathogenic	8837	rs387906402	GRCh37: 16:23392046-23392046 GRCh38: 16:23380725-23380725
7	SCNN1B	NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter)	SNV	Pathogenic	8830	rs137852704	GRCh37: 16:23391895-23391895 GRCh38: 16:23380574-23380574
8	SCNN1B	NM_000336.3(SCNN1B):c.1850C>T (p.Pro617Leu)	SNV	Pathogenic	1705177		GRCh37: 16:23392049-23392049 GRCh38: 16:23380728-23380728
9	SCNN1G	NM_001039.4(SCNN1G):c.789_790delinsCT	INDEL	Uncertain Significance	318374	rs386789797	GRCh37: 16:23227579-23227580 GRCh38: 16:23216258-23216259
10	SCNN1B	NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser)	SNV	Uncertain Significance	635564	rs769244277	GRCh37: 16:23391959-23391959 GRCh38: 16:23380638-23380638
11	SCNN1B	NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val)	SNV	Uncertain Significance	973855	rs1962882235	GRCh37: 16:23387162-23387162 GRCh38: 16:23375841-23375841
12	SCNN1B	NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	SNV	Uncertain Significance	989360	rs748962184	GRCh37: 16:23364340-23364340 GRCh38: 16:23353019-23353019
13	SCNN1B	NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=)	SNV	Uncertain Significance	318443	rs758251652	GRCh37: 16:23391912-23391912 GRCh38: 16:23380591-23380591
14	SCNN1B	NM_000336.3(SCNN1B):c.561C>T (p.His187=)	SNV	Uncertain Significance	318423	rs773448523	GRCh37: 16:23364371-23364371 GRCh38: 16:23353050-23353050
15	SCNN1B	NM_000336.3(SCNN1B):c.1404+15G>A	SNV	Uncertain Significance	318438	rs886051815	GRCh37: 16:23388722-23388722 GRCh38: 16:23377401-23377401
16	SCNN1B	NM_000336.3(SCNN1B):c.*94G>A	SNV	Uncertain Significance	318449	rs72654359	GRCh37: 16:23392216-23392216 GRCh38: 16:23380895-23380895
17	SCNN1B	NM_000336.3(SCNN1B):c.*278C>T	SNV	Uncertain Significance	318451	rs549628659	GRCh37: 16:23392400-23392400 GRCh38: 16:23381079-23381079
18	SCNN1B	NM_000336.3(SCNN1B):c.1271-10T>C	SNV	Uncertain Significance	318436	rs886051814	GRCh37: 16:23388476-23388476 GRCh38: 16:23377155-23377155
19	SCNN1B	NM_000336.3(SCNN1B):c.*187G>A	SNV	Uncertain Significance	318450	rs886051816	GRCh37: 16:23392309-23392309 GRCh38: 16:23380988-23380988
20	SCNN1B	NM_000336.3(SCNN1B):c.159C>T (p.Phe53=)	SNV	Uncertain Significance	318418	rs749106839	GRCh37: 16:23360079-23360079 GRCh38: 16:23348758-23348758
21	SCNN1B	NM_000336.3(SCNN1B):c.753C>T (p.Phe251=)	SNV	Uncertain Significance	318425	rs748167291	GRCh37: 16:23366787-23366787 GRCh38: 16:23355466-23355466
22	SCNN1B	NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu)	SNV	Uncertain Significance	885646	rs1963026711	GRCh37: 16:23391944-23391944 GRCh38: 16:23380623-23380623
23	SCNN1B	NM_000336.3(SCNN1B):c.*241G>A	SNV	Uncertain Significance	886714	rs529644900	GRCh37: 16:23392363-23392363 GRCh38: 16:23381042-23381042
24	SCNN1B	NM_000336.3(SCNN1B):c.*446C>A	SNV	Uncertain Significance	887970	rs1452320359	GRCh37: 16:23392568-23392568 GRCh38: 16:23381247-23381247
25	SCNN1B	NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys)	SNV	Uncertain Significance	884639	rs1962919047	GRCh37: 16:23388551-23388551 GRCh38: 16:23377230-23377230
26	SCNN1B	NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val)	SNV	Uncertain Significance	887662	rs1962399992	GRCh37: 16:23366782-23366782 GRCh38: 16:23355461-23355461
27	SCNN1B	NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln)	SNV	Uncertain Significance	887470	rs765336896	GRCh37: 16:23364277-23364277 GRCh38: 16:23352956-23352956
28	SCNN1B	NM_000336.3(SCNN1B):c.1404+7C>T	SNV	Uncertain Significance	885580	rs1485041245	GRCh37: 16:23388714-23388714 GRCh38: 16:23377393-23377393
29	SCNN1B	NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr)	SNV	Uncertain Significance	884579	rs932297365	GRCh37: 16:23383121-23383121 GRCh38: 16:23371800-23371800
30	SCNN1B	NM_000336.3(SCNN1B):c.776+9C>A	SNV	Uncertain Significance	884508	rs1962401157	GRCh37: 16:23366819-23366819 GRCh38: 16:23355498-23355498
31	SCNN1B	NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser)	SNV	Uncertain Significance	884580	rs768729700	GRCh37: 16:23387105-23387105 GRCh38: 16:23375784-23375784
32	SCNN1B	NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe)	SNV	Likely Benign	318421	rs199810483	GRCh37: 16:23364238-23364238 GRCh38: 16:23352917-23352917
33	SCNN1B	NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His)	SNV	Likely Benign	885512	rs200966246	GRCh37: 16:23387135-23387135 GRCh38: 16:23375814-23375814
34	SCNN1B	NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln)	SNV	Likely Benign	887661	rs201279350	GRCh37: 16:23366651-23366651 GRCh38: 16:23355330-23355330
35	SCNN1B	NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys)	SNV	Likely Benign	887912	rs373718332	GRCh37: 16:23391988-23391988 GRCh38: 16:23380667-23380667
36	SCNN1B	NM_000336.2(SCNN1B):c.-150C>G	SNV	Likely Benign	318400	rs530631658	GRCh37: 16:23313617-23313617 GRCh38: 16:23302296-23302296
37	SCNN1B	NM_000336.3(SCNN1B):c.*20G>A	SNV	Likely Benign	318448	rs755277136	GRCh37: 16:23392142-23392142 GRCh38: 16:23380821-23380821
38	SCNN1G	NM_001039.4(SCNN1G):c.*597dup	DUP	Likely Benign	318369	rs566227302	GRCh37: 16:23227386-23227387 GRCh38: 16:23216065-23216066
39	SCNN1B	NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser)	SNV	Likely Benign	165171	rs61759926	GRCh37: 16:23391964-23391964 GRCh38: 16:23380643-23380643
40	SCNN1B	NM_000336.3(SCNN1B):c.1270+11G>T	SNV	Likely Benign	318434	rs369905217	GRCh37: 16:23387187-23387187 GRCh38: 16:23375866-23375866
41	SCNN1B	NM_000336.3(SCNN1B):c.246C>T (p.Ser82=)	SNV	Likely Benign	318419	rs757137077	GRCh37: 16:23360166-23360166 GRCh38: 16:23348845-23348845
42	SCNN1B	NM_000336.3(SCNN1B):c.586-15T>C	SNV	Likely Benign	318424	rs371098444	GRCh37: 16:23366605-23366605 GRCh38: 16:23355284-23355284
43	SCNN1B	NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=)	SNV	Likely Benign	318444	rs762486495	GRCh37: 16:23391963-23391963 GRCh38: 16:23380642-23380642
44	SCNN1B	NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)	SNV	Benign/Likely Benign	318422	rs139310448	GRCh37: 16:23364276-23364276 GRCh38: 16:23352955-23352955
45	SCNN1B	NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val)	SNV	Benign/Likely Benign	229239	rs140927806	GRCh37: 16:23391905-23391905 GRCh38: 16:23380584-23380584
46	SCNN1B	NM_000336.3(SCNN1B):c.1560G>C (p.Ser520=)	SNV	Benign	884705	rs146440372	GRCh37: 16:23391759-23391759 GRCh38: 16:23380438-23380438
47	SCNN1B	NM_000336.3(SCNN1B):c.1694G>A (p.Arg565Gln)	SNV	Benign	884706	rs13306627	GRCh37: 16:23391893-23391893 GRCh38: 16:23380572-23380572
48	SCNN1B	NM_000336.3(SCNN1B):c.1790G>A (p.Arg597His)	SNV	Benign	884762	rs140945152	GRCh37: 16:23391989-23391989 GRCh38: 16:23380668-23380668
49	SCNN1B	NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=)	SNV	Benign	318433	rs2303155	GRCh37: 16:23387163-23387163 GRCh38: 16:23375842-23375842
50	SCNN1B	NM_000336.3(SCNN1B):c.1757C>T (p.Thr586Ile)	SNV	Benign	886656	rs147926991	GRCh37: 16:23391956-23391956 GRCh38: 16:23380635-23380635

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

⁷³

#	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

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 GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter 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 Proton-coupled neutral amino acid transporters 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 Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	13.2	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
2	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.44	SLC12A3 SCNN1G SCNN1B SCNN1A NEDD4 CFTR
3	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.08	WNK4 WNK1 SGK1 SCNN1G SCNN1B SCNN1A
4	Sensory perception of taste ⁶⁶ Show member pathways Class C/3 (Metabotropic glutamate/pheromone receptors) ⁶⁶ Sensory perception of salty taste ⁶⁶ Sensory perception of sour taste ⁶⁶ Sensory perception of sweet, bitter, and umami (glutamate) taste ⁶⁶	11.76	SCNN1G SCNN1B SCNN1A
5	ACE Inhibitor Pathway, Pharmacodynamics ⁶⁰ Show member pathways ACE inhibitor pathway ⁷⁴ Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics ⁶⁰ Conversion of angiotensinogen to angiotensin II ⁷⁴ Defective SERPING1 causes hereditary angioedema ⁶⁶ Downregulation of ACE2 by SARS-CoV-2 spike protein ⁷⁴ Kinin-Kallikrein pathway ⁷⁴ Non-classical role of vitamin D ⁷⁴ RAS and bradykinin pathways in COVID-19 ⁷⁴ Renin-angiotensin-aldosterone system (RAAS) ⁷⁴ SARS-CoV-2 and ACE2 receptor: molecular mechanisms ⁷⁴	11.67	REN NR3C2 CYP11B2
6	PI3K / Akt Signaling ³	11.54	WNK4 WNK1 SGK1
7	CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) ²²	11.1	SCNN1G SCNN1B SCNN1A NEDD4 CFTR
8	Diuretics Pathway, Pharmacodynamics ⁶⁰	10.74	WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
9	NO-dependent CFTR activation (normal and CF) ²²	10.67	CFTR 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	10.35	ASIC2 ASIC5 CFTR CYP11B2 HSD11B2 KCNJ1
2	membrane	GO:0016021	10.35	ASIC2 ASIC5 CFTR HSD11B2 KCNJ1 SCNN1A
3	plasma membrane	GO:0005887	9.98	ASIC2 ASIC5 CFTR SCNN1A SCNN1B SCNN1G
4	plasma membrane	GO:0005886	9.98	ASIC2 ASIC5 CFTR SCNN1A SCNN1B SCNN1G
5	apical plasma membrane	GO:0016324	9.96	SLC12A3 SCNN1G SCNN1B SCNN1A CFTR
6	sodium channel complex	GO:0034706	9.1	SCNN1G SCNN1B SCNN1A

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

(show all 34)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein polyubiquitination	GO:0000209	10.25	UBE2S UBE2K NEDD4L NEDD4
2	regulation of monoatomic ion transmembrane transport	GO:0034765	10.21	ASIC2 KCNJ1 NEDD4 NEDD4L
3	regulation of blood pressure	GO:0008217	10.14	WNK1 SGK1 SCNN1G SCNN1B SCNN1A REN
4	potassium ion homeostasis	GO:0055075	10.11	CYP11B2 SCNN1B SLC12A3 WNK1
5	sodium ion import across plasma membrane	GO:0098719	10.05	SCNN1G SCNN1B SCNN1A
6	cellular sodium ion homeostasis	GO:0006883	10.04	SCNN1G SCNN1B SCNN1A
7	multicellular organismal water homeostasis	GO:0050891	10.03	CFTR SCNN1A SCNN1B SCNN1G
8	cellular response to acidic pH	GO:0071468	10.02	SCNN1G SCNN1B SCNN1A
9	cellular response to vasopressin	GO:1904117	10.01	SCNN1G SCNN1B SCNN1A
10	negative regulation of sodium ion transport	GO:0010766	10	WNK4 WNK1 NEDD4
11	sodium ion transport	GO:0006814	10	SLC12A3 SGK1 SCNN1G SCNN1B SCNN1A ASIC5
12	sensory perception of sour taste	GO:0050915	9.97	SCNN1G SCNN1B SCNN1A ASIC2
13	cellular chloride ion homeostasis	GO:0030644	9.96	WNK4 WNK1
14	renal sodium ion absorption	GO:0070294	9.96	WNK4 SGK1
15	intracellular steroid hormone receptor signaling pathway	GO:0030518	9.96	NR3C2 NR3C1
16	sensory perception of salty taste	GO:0050914	9.95	SCNN1G SCNN1B SCNN1A
17	negative regulation of sodium ion transmembrane transporter activity	GO:2000650	9.94	NEDD4L NEDD4
18	positive regulation of sodium ion transmembrane transporter activity	GO:2000651	9.94	WNK1 WNK4
19	positive regulation of potassium ion import across plasma membrane	GO:1903288	9.93	WNK4 WNK1
20	free ubiquitin chain polymerization	GO:0010994	9.93	UBE2S UBE2K
21	cellular response to amiloride	GO:0036254	9.93	SCNN1G SCNN1B SCNN1A
22	glucocorticoid metabolic process	GO:0008211	9.92	NR3C1 HSD11B2
23	regulation of potassium ion transmembrane transporter activity	GO:1901016	9.92	NEDD4L NEDD4
24	cellular response to aldosterone	GO:1904045	9.92	SCNN1A SCNN1B SCNN1G SGK1
25	glucocorticoid receptor signaling pathway	GO:0042921	9.91	NR3C1 NEDD4
26	negative regulation of pancreatic juice secretion	GO:0090188	9.9	WNK4 WNK1
27	cortisol metabolic process	GO:0034650	9.89	HSD11B2 CYP11B2
28	inorganic cation transmembrane transport	GO:0098662	9.89	ASIC2 SCNN1A SCNN1B SCNN1G
29	regulation of blood volume by renal aldosterone	GO:0002017	9.86	CYP11B2 HSD11B2
30	sodium ion homeostasis	GO:0055078	9.85	SLC12A3 SCNN1G SCNN1B SCNN1A CYP11B2
31	regulation of sodium ion transmembrane transport	GO:1902305	9.83	WNK1 NEDD4L
32	monoatomic ion transport	GO:0006811	9.77	ASIC2 ASIC5 CFTR KCNJ1 SCNN1A SCNN1B
33	sensory perception of taste	GO:0050909	9.76	SCNN1G SCNN1B SCNN1A
34	sodium ion transmembrane transport	GO:0035725	9.53	WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	steroid binding	GO:0005496	9.85	NR3C2 NR3C1 HSD11B2
2	WW domain binding	GO:0050699	9.8	SCNN1G SCNN1B SCNN1A
3	sodium channel inhibitor activity	GO:0019871	9.73	NEDD4L NEDD4
4	chloride channel inhibitor activity	GO:0019869	9.73	CFTR WNK1 WNK4
5	chloride channel regulator activity	GO:0017081	9.71	SGK1 CFTR
6	potassium channel inhibitor activity	GO:0019870	9.63	WNK4 WNK1 NEDD4L
7	sodium channel activity	GO:0005272	9.43	SCNN1G SCNN1B SCNN1A ASIC5 ASIC2
8	ligand-gated sodium channel activity	GO:0015280	9.32	SCNN1G SCNN1B SCNN1A ASIC5 ASIC2

Sources

Sources for Liddle Syndrome 1

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

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⁷³ UniProtKB/Swiss-Prot

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LIDLS1 MCID: LDD007 MIFTS: 59	Liddle Syndrome 1 (LIDLS1) Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Liddle Syndrome 1 (LIDLS1)

Aliases & Classifications for Liddle Syndrome 1

MalaCards integrated aliases for Liddle Syndrome 1:

Characteristics:

Inheritance:

Age Of Onset:

OMIM®:

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

Human phenotypes related to Liddle Syndrome 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Liddle Syndrome 1 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Liddle Syndrome 1:

Drugs & Therapeutics for Liddle Syndrome 1

Interventional clinical trials:

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

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 (3 elite genes):

Variations for Liddle Syndrome 1

ClinVar genetic disease variations for Liddle Syndrome 1:

UniProtKB/Swiss-Prot 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 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