LIDLS1
MCID: LDD007
MIFTS: 59

Liddle Syndrome 1 (LIDLS1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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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:

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

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...

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:



Diseases related to Liddle Syndrome 1

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

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

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

Anatomical Context for Liddle Syndrome 1

Organs/tissues related to Liddle Syndrome 1:

MalaCards : Kidney, Heart, Liver, Brain, Skin, Prostate, Pituitary
ODiseA: Kidney
LifeMap Discovery
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

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
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
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
9626162 1998
4
Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. 62 57 5
9100575 1997
5
Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. 62 57 5
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
8524790 1995
7
Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. 62 57 5
7954808 1994
8
Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. 53 62 57
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
27900368 2016
10
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. 62 57
26772908 2016
11
Molecular genetics of Liddle's syndrome. 62 57
24882431 2014
12
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during Pregnancy. 62 5
25210634 2014
13
A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome. 62 5
21525970 2011
14
Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit. 62 5
18398334 2008
15
Abnormalities of nasal potential difference measurement in Liddle's syndrome. 62 57
9649551 1998
16
Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. 62 57
8521520 1995
17
Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule. 62 57
8264740 1994
18
Liddle's syndrome, an uncommon form of hyporeninemic hypoaldosteronism: functional and histopathological studies. 62 57
3550146 1987
19
The effect of triamterene and sodium intake on renin, aldosterone, and erythrocyte sodium transport in Liddle's syndrome. 62 57
6262354 1981
20
Pseudohyperaldosteronism with renal tubular resistance to mineralocorticoid hormones. 62 57
7046191 1981
21
Abnormal membrane sodium transport in Liddle's syndrome. 62 57
4328882 1971
22
Genetic disorders of renal electrolyte transport. 57
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
20376790 2010
24
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. 53 62
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
19344079 2009
26
Role of the UPS in Liddle syndrome. 53 62
19007435 2008
27
ENaC and its regulatory proteins as drug targets for blood pressure control. 53 62
18691017 2008
28
Mutation analysis of SCNN1B in a family with Liddle's syndrome. 53 62
16943574 2006
29
Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage. 53 62
16477034 2006
30
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 53 62
16207733 2005
31
Renal tubular transport and the genetic basis of hypertensive disease. 53 62
15980941 2005
32
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. 53 62
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
15513933 2005
34
[Regulation by vasopressin of NaCl absorption in the renal collecting duct]. 53 62
16738531 2005
35
Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives. 53 62
15198480 2004
36
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 53 62
12959913 2003
37
Investigating mineralocorticoid hypertension. 53 62
12929904 2003
38
[Monogenic hypertension]. 53 62
12715144 2003
39
Epithelial sodium channel, salt intake, and hypertension. 53 62
12530930 2003
40
[Monogenic hypertension]. 53 62
15058025 2003
41
History of the endocrine effects of licorice. 53 62
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
11978598 2002
43
The epithelial Na+ channel: cell surface insertion and retrieval in Na+ homeostasis and hypertension. 53 62
11943747 2002
44
Genetics of the mineralocorticoid system in primary hypertension. 53 62
11790287 2002
45
Alteration of the activity of the 11beta-hydroxysteroid dehydrogenase in pregnancy: relevance for the development of pregnancy-induced hypertension? 53 62
11701681 2001
46
Association of sodium channel gamma-subunit promoter variant with blood pressure. 53 62
11463765 2001
47
Enac degradation in A6 cells by the ubiquitin-proteosome proteolytic pathway. 53 62
11278712 2001
48
Juvenile hypertension, the role of genetically altered steroid metabolism. 53 62
11740142 2001
49
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. 53 62
11014928 2000
50
Genetic determination of human essential hypertension. 53 62
11128865 2000

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

Expression for Liddle Syndrome 1

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

Pathways for Liddle Syndrome 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
2
Show member pathways
12.44 SLC12A3 SCNN1G SCNN1B SCNN1A NEDD4 CFTR
3
Show member pathways
12.08 WNK4 WNK1 SGK1 SCNN1G SCNN1B SCNN1A
4
Show member pathways
11.76 SCNN1G SCNN1B SCNN1A
5
Show member pathways
11.67 REN NR3C2 CYP11B2
6 11.54 WNK4 WNK1 SGK1
7 11.1 SCNN1G SCNN1B SCNN1A NEDD4 CFTR
8 10.74 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
9 10.67 CFTR SCNN1A SCNN1B SCNN1G

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 for Liddle Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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