LIDLS1
MCID: LDD007
MIFTS: 57

Liddle Syndrome 1 (LIDLS1)

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

Aliases & Classifications for Liddle Syndrome 1

MalaCards integrated aliases for Liddle Syndrome 1:

Name: Liddle Syndrome 1 57 72 29 6
Liddle Syndrome 57 12 73 20 43 58 72 36 29 13 44 15 70
Pseudoaldosteronism 57 12 20 43 58 72
Pseudoprimary Hyperaldosteronism 43 70
Pseudohyperaldosteronism 57 72
Liddle's Syndrome 12 20
Lidls1 57 72
Lidls 57 72
Pseudohyperaldosteronism Type 1 58
Liddle Syndrome; Lidls 57
Liddles Syndrome 54
Syndrome, Liddle 39

Characteristics:

Orphanet epidemiological data:

58
liddle syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
liddle syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0050477
OMIM® 57 177200
OMIM Phenotypic Series 57 PS177200
KEGG 36 H00242
MeSH 44 D056929
NCIt 50 C84827
SNOMED-CT 67 707749005
MESH via Orphanet 45 D056929
ICD10 via Orphanet 33 I15.1
UMLS via Orphanet 71 C0221043
Orphanet 58 ORPHA526
MedGen 41 C0221043
UMLS 70 C0221043 C3854315

Summaries for Liddle Syndrome 1

MedlinePlus Genetics : 43 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 hypokalemia and hypertension, essential. An important gene associated with Liddle Syndrome 1 is SCNN1B (Sodium Channel Epithelial 1 Subunit Beta), 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 brain, and related phenotypes are constipation and hypertension

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.

GARD : 20 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.

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 05-Apr-2021)

KEGG : 36 Liddle syndrome (LIDLS) is a rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene cause failure of the protein endocytosis and accumulation of active channels at the cell surface, leading persistent absorption of Na+ and resulting in large blood volume and high blood pressure.

UniProtKB/Swiss-Prot : 72 Liddle syndrome 1: 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.

Wikipedia : 73 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 104)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 31.1 SLC12A3 REN NR3C2 NR3C1 KCNJ1 HSD11B2
2 hypertension, essential 30.8 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
3 hypoaldosteronism 30.5 REN CYP11B2
4 apparent mineralocorticoid excess 30.3 WNK4 REN NR3C2 NR3C1 KCNJ1 HSD11B2
5 renal hypertension 30.3 SLC12A3 REN NR3C2
6 metabolic acidosis 30.2 WNK4 WNK1 SCNN1G SCNN1B SCNN1A
7 gitelman syndrome 30.1 WNK4 WNK1 SLC12A3 REN KCNJ1
8 cystic fibrosis 30.0 SGK1 SCNN1G SCNN1B SCNN1A KCNJ1 CFTR
9 hyperaldosteronism, familial, type i 30.0 WNK4 WNK1 REN NR3C2 NR3C1 HSD11B2
10 conn's syndrome 30.0 SLC12A3 REN NR3C2 NR3C1 HSD11B2 CYP11B2
11 pseudohypoaldosteronism, type i, autosomal recessive 29.9 SCNN1G SCNN1B SCNN1A REN NR3C2 NEDD4L
12 bartter disease 29.7 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A
13 pseudohypoaldosteronism 29.5 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
14 liddle syndrome 2 11.6
15 liddle syndrome 3 11.6
16 hypertension due to gain-of-function mutations in the mineralocorticoid receptor 11.0
17 corticosterone methyloxidase type i deficiency 10.3 SCNN1G REN CYP11B2
18 anuria 10.3 REN NR3C2 HSD11B2
19 hypertensive retinopathy 10.3 REN NR3C2
20 miliaria rubra 10.3 SCNN1G SCNN1B SCNN1A CFTR
21 miliaria 10.3 SCNN1G SCNN1B SCNN1A CFTR
22 hypertensive heart disease 10.3 REN NR3C2 CYP11B2
23 adult syndrome 10.3 REN NR3C1 HSD11B2
24 idiopathic bronchiectasis 10.3 SCNN1G SCNN1B SCNN1A CFTR
25 bartter syndrome, type 2, antenatal 10.3 SCNN1G SCNN1B SCNN1A KCNJ1
26 bronchiectasis 10.3 SCNN1G SCNN1B SCNN1A CFTR
27 renal tubular acidosis 10.3 SCNN1G REN NR3C2
28 corticosteroid-binding globulin deficiency 10.3 NR3C1 HSD11B2
29 steroid inherited metabolic disorder 10.3 REN NR3C2 HSD11B2 CYP11B2
30 endocrine organ benign neoplasm 10.3 REN NR3C2 CYP11B2
31 mental retardation, autosomal dominant 20 10.3 UBE2S UBE2K
32 bartter syndrome, type 3 10.3 SLC12A3 REN KCNJ1
33 adrenal adenoma 10.3 REN NR3C2 HSD11B2 CYP11B2
34 uterine adnexa cancer 10.2 UBE2S UBE2K
35 antenatal bartter syndrome 10.2 REN KCNJ1
36 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2
37 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
38 myopathy 10.2
39 pure autonomic failure 10.2 REN NEDD4L
40 mineral metabolism disease 10.2 SLC12A3 REN NR3C2 KCNJ1
41 bartter syndrome, type 1, antenatal 10.2 SLC12A3 KCNJ1
42 adrenal gland disease 10.2 REN NR3C2 NR3C1 HSD11B2 CYP11B2
43 diabetes insipidus, nephrogenic, autosomal 10.2 SLC12A3 REN KCNJ1 CFTR
44 left bundle branch hemiblock 10.2 REN NR3C2
45 distal arthrogryposis 10.1 WNK4 WNK1 SLC12A3 KCNJ1
46 familial hypertension 10.1 WNK4 WNK1 REN NR3C2 HSD11B2 CYP11B2
47 pseudohypoaldosteronism, type i, autosomal dominant 10.1 SGK1 SCNN1G SCNN1B SCNN1A REN NR3C2
48 arthrogryposis, distal, type 3 10.1 WNK4 WNK1 SLC12A3 REN NR3C2 KCNJ1
49 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 WNK4 WNK1 SCNN1G REN NR3C2 KCNJ1
50 rare cause of hypertension 10.1

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 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
3 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
4 arrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011675
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
9 cerebral ischemia 58 31 frequent (33%) Frequent (79-30%) HP:0002637
10 decreased circulating aldosterone level 31 HP:0004319
11 decreased circulating renin level 31 HP:0003351
12 metabolic alkalosis 31 HP:0200114
13 hypokalemic alkalosis 31 HP:0001949

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.02 NR3C1
2 Decreased viability GR00221-A-1 10.02 NEDD4L WNK4
3 Decreased viability GR00221-A-2 10.02 NEDD4L WNK4
4 Decreased viability GR00221-A-3 10.02 NEDD4L WNK1
5 Decreased viability GR00221-A-4 10.02 WNK1 WNK4
6 Decreased viability GR00249-S 10.02 ASIC2 ASIC5 HSD11B2 KCNJ1 SLC12A3 UBE2K
7 Decreased viability GR00381-A-1 10.02 HSD11B2
8 Decreased viability GR00386-A-1 10.02 NR3C2 SCNN1G WNK1
9 Decreased viability GR00402-S-2 10.02 CYP11B2 SLC12A3 WNK1
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 REN SCNN1G SGK1 UBE2K UBE2S
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CFTR REN SCNN1G SGK1 UBE2K UBE2S
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 SCNN1G

MGI Mouse Phenotypes related to Liddle Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 ASIC2 CYP11B2 HSD11B2 KCNJ1 NEDD4L NR3C1
2 homeostasis/metabolism MP:0005376 10.16 ASIC5 CFTR CYP11B2 HSD11B2 KCNJ1 NEDD4L
3 digestive/alimentary MP:0005381 9.87 CFTR HSD11B2 NEDD4L NR3C1 SCNN1A SCNN1B
4 muscle MP:0005369 9.7 ASIC2 HSD11B2 NEDD4L NR3C1 NR3C2 REN
5 normal MP:0002873 9.56 ASIC5 CFTR HSD11B2 NR3C1 REN SCNN1A
6 renal/urinary system MP:0005367 9.5 ASIC2 CYP11B2 HSD11B2 KCNJ1 NEDD4L NR3C1

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 29 SCNN1B
2 Liddle Syndrome 29

Anatomical Context for Liddle Syndrome 1

MalaCards organs/tissues related to Liddle Syndrome 1:

40
Heart, Kidney, Brain
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 186)
# Title Authors PMID Year
1
Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. 6 57 54
9350583 1997
2
Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. 61 57 6
8601645 1996
3
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. 61 57 6
8524790 1995
4
Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. 6 57
15483078 2005
5
A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. 6 57
9626162 1998
6
Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. 57 6
9100575 1997
7
Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. 6 57
7954808 1994
8
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. 61 6
27900368 2016
9
Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. 61 57
26772908 2016
10
Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. 57 54
10074483 1999
11
Molecular genetics of Liddle's syndrome. 57
24882431 2014
12
Genetic disorders of renal electrolyte transport. 57
10202170 1999
13
Abnormalities of nasal potential difference measurement in Liddle's syndrome. 57
9649551 1998
14
Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. 57
8521520 1995
15
Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule. 57
8264740 1994
16
Liddle's syndrome, an uncommon form of hyporeninemic hypoaldosteronism: functional and histopathological studies. 57
3550146 1987
17
The effect of triamterene and sodium intake on renin, aldosterone, and erythrocyte sodium transport in Liddle's syndrome. 57
6262354 1981
18
Pseudohyperaldosteronism with renal tubular resistance to mineralocorticoid hormones. 57
7046191 1981
19
Abnormal membrane sodium transport in Liddle's syndrome. 57
4328882 1971
20
Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC. 61 54
20064610 2010
21
Role of the UPS in Liddle syndrome. 61 54
19007435 2008
22
ENaC and its regulatory proteins as drug targets for blood pressure control. 61 54
18691017 2008
23
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 61 54
16207733 2005
24
Renal tubular transport and the genetic basis of hypertensive disease. 54 61
15980941 2005
25
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. 54 61
15690192 2005
26
[Monogenic hypertension]. 54 61
15058025 2003
27
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. 54 61
11978598 2002
28
Genetics of the mineralocorticoid system in primary hypertension. 54 61
11790287 2002
29
Genetic variants in the epithelial sodium channel in relation to aldosterone and potassium excretion and risk for hypertension. 54 61
10523338 1999
30
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. 54 61
10446938 1999
31
Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension. 61
32161960 2020
32
Ubiquitination of renal ENaC subunits in vivo. 61
32174140 2020
33
Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity. 61
32206607 2020
34
Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation. 61
32698182 2020
35
A case report of three children with secondary hypertension caused by Liddle syndrome. 61
32566444 2020
36
[Liddle syndrome as a rare cause of hypertension - a case report]. 61
31812974 2019
37
A Novel Association of Martorell Ulcer With Liddle Syndrome. 61
31625969 2019
38
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report. 61
31655555 2019
39
Registration of amiloride in South Africa: Cutting the Gordian knot. 61
31635585 2019
40
MST3 is involved in ENaC-mediated hypertension. 61
30969802 2019
41
A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia. 61
30977777 2019
42
Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family. 61
31437854 2019
43
Liquorice, Liddle, Bartter or Gitelman-how to differentiate? 61
29982819 2019
44
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B. 61
30496127 2018
45
Spectrum of renin angiotensin aldosterone system disorders in young hypertensives. 61
30108382 2018
46
Liddle Syndrome: Review of the Literature and Description of a New Case. 61
29534496 2018
47
Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor. 61
29229744 2018
48
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. 61
28718682 2018
49
A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome. 61
28710092 2017
50
[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome]. 61
28870047 2017

Variations for Liddle Syndrome 1

ClinVar genetic disease variations for Liddle Syndrome 1:

6 (show top 50) (show all 75)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCNN1B NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) SNV Pathogenic 8830 rs137852704 GRCh37: 16:23391895-23391895
GRCh38: 16:23380574-23380574
2 SCNN1B NM_000336.3(SCNN1B):c.1847C>T (p.Pro616Leu) SNV Pathogenic 8831 rs387906402 GRCh37: 16:23392046-23392046
GRCh38: 16:23380725-23380725
3 SCNN1B NM_000336.3(SCNN1B):c.1858T>C (p.Tyr620His) SNV Pathogenic 8833 rs137852707 GRCh37: 16:23392057-23392057
GRCh38: 16:23380736-23380736
4 SCNN1B SCNN1B, 1-BP INS, 592C Insertion Pathogenic 8834 GRCh37:
GRCh38:
5 SCNN1B SCNN1B, 32-BP DEL Deletion Pathogenic 8835 GRCh37:
GRCh38:
6 SCNN1B NM_000336.3(SCNN1B):c.1849C>T (p.Pro617Ser) SNV Pathogenic 8836 rs137852708 GRCh37: 16:23392048-23392048
GRCh38: 16:23380727-23380727
7 SCNN1B NM_000336.3(SCNN1B):c.1847C>G (p.Pro616Arg) SNV Pathogenic 8837 rs387906402 GRCh37: 16:23392046-23392046
GRCh38: 16:23380725-23380725
8 SCNN1G NM_001039.4(SCNN1G):c.*789_*790delinsCT Indel Uncertain significance 318374 rs386789797 GRCh37: 16:23227579-23227580
GRCh38: 16:23216258-23216259
9 SCNN1B NM_000336.3(SCNN1B):c.1713C>T (p.Tyr571=) SNV Uncertain significance 318443 rs758251652 GRCh37: 16:23391912-23391912
GRCh38: 16:23380591-23380591
10 SCNN1B NM_000336.3(SCNN1B):c.561C>T (p.His187=) SNV Uncertain significance 318423 rs773448523 GRCh37: 16:23364371-23364371
GRCh38: 16:23353050-23353050
11 SCNN1B NM_000336.3(SCNN1B):c.*278C>T SNV Uncertain significance 318451 rs549628659 GRCh37: 16:23392400-23392400
GRCh38: 16:23381079-23381079
12 SCNN1B NM_000336.3(SCNN1B):c.1404+15G>A SNV Uncertain significance 318438 rs886051815 GRCh37: 16:23388722-23388722
GRCh38: 16:23377401-23377401
13 SCNN1B NM_000336.3(SCNN1B):c.*94G>A SNV Uncertain significance 318449 rs72654359 GRCh37: 16:23392216-23392216
GRCh38: 16:23380895-23380895
14 SCNN1B NM_000336.3(SCNN1B):c.1271-10T>C SNV Uncertain significance 318436 rs886051814 GRCh37: 16:23388476-23388476
GRCh38: 16:23377155-23377155
15 SCNN1B NM_000336.3(SCNN1B):c.*187G>A SNV Uncertain significance 318450 rs886051816 GRCh37: 16:23392309-23392309
GRCh38: 16:23380988-23380988
16 SCNN1B NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) SNV Uncertain significance 318418 rs749106839 GRCh37: 16:23360079-23360079
GRCh38: 16:23348758-23348758
17 SCNN1B NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) SNV Uncertain significance 318425 rs748167291 GRCh37: 16:23366787-23366787
GRCh38: 16:23355466-23355466
18 SCNN1B NM_000336.3(SCNN1B):c.776+9C>A SNV Uncertain significance 884508 GRCh37: 16:23366819-23366819
GRCh38: 16:23355498-23355498
19 SCNN1B NM_000336.3(SCNN1B):c.1069C>A (p.Pro357Thr) SNV Uncertain significance 884579 GRCh37: 16:23383121-23383121
GRCh38: 16:23371800-23371800
20 SCNN1B NM_000336.3(SCNN1B):c.1199A>G (p.Asn400Ser) SNV Uncertain significance 884580 GRCh37: 16:23387105-23387105
GRCh38: 16:23375784-23375784
21 SCNN1B NM_000336.3(SCNN1B):c.1404+7C>T SNV Uncertain significance 885580 GRCh37: 16:23388714-23388714
GRCh38: 16:23377393-23377393
22 SCNN1B NM_000336.3(SCNN1B):c.1745T>A (p.Val582Glu) SNV Uncertain significance 885646 GRCh37: 16:23391944-23391944
GRCh38: 16:23380623-23380623
23 SCNN1B NM_000336.3(SCNN1B):c.*241G>A SNV Uncertain significance 886714 GRCh37: 16:23392363-23392363
GRCh38: 16:23381042-23381042
24 SCNN1B NM_000336.3(SCNN1B):c.467G>A (p.Arg156Gln) SNV Uncertain significance 887470 GRCh37: 16:23364277-23364277
GRCh38: 16:23352956-23352956
25 SCNN1B NM_000336.3(SCNN1B):c.748C>G (p.Leu250Val) SNV Uncertain significance 887662 GRCh37: 16:23366782-23366782
GRCh38: 16:23355461-23355461
26 SCNN1B NM_000336.3(SCNN1B):c.1336G>A (p.Glu446Lys) SNV Uncertain significance 884639 GRCh37: 16:23388551-23388551
GRCh38: 16:23377230-23377230
27 SCNN1B NM_000336.3(SCNN1B):c.*446C>A SNV Uncertain significance 887970 GRCh37: 16:23392568-23392568
GRCh38: 16:23381247-23381247
28 SCNN1B NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn) SNV Uncertain significance 989360 GRCh37: 16:23364340-23364340
GRCh38: 16:23353019-23353019
29 SCNN1B NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser) SNV Uncertain significance 635564 rs769244277 GRCh37: 16:23391959-23391959
GRCh38: 16:23380638-23380638
30 SCNN1B NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val) SNV Uncertain significance 973855 GRCh37: 16:23387162-23387162
GRCh38: 16:23375841-23375841
31 SCNN1B NM_000336.3(SCNN1B):c.617G>A (p.Arg206Gln) SNV Likely benign 887661 GRCh37: 16:23366651-23366651
GRCh38: 16:23355330-23355330
32 SCNN1B NM_000336.3(SCNN1B):c.1789C>T (p.Arg597Cys) SNV Likely benign 887912 GRCh37: 16:23391988-23391988
GRCh38: 16:23380667-23380667
33 SCNN1B NM_000336.3(SCNN1B):c.1229G>A (p.Arg410His) SNV Likely benign 885512 GRCh37: 16:23387135-23387135
GRCh38: 16:23375814-23375814
34 SCNN1B NM_000336.2(SCNN1B):c.-150C>G SNV Likely benign 318400 rs530631658 GRCh37: 16:23313617-23313617
GRCh38: 16:23302296-23302296
35 SCNN1B NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) SNV Likely benign 165171 rs61759926 GRCh37: 16:23391964-23391964
GRCh38: 16:23380643-23380643
36 SCNN1B NM_000336.3(SCNN1B):c.*20G>A SNV Likely benign 318448 rs755277136 GRCh37: 16:23392142-23392142
GRCh38: 16:23380821-23380821
37 SCNN1G NM_001039.4(SCNN1G):c.*597dup Duplication Likely benign 318369 rs566227302 GRCh37: 16:23227386-23227387
GRCh38: 16:23216065-23216066
38 SCNN1B NM_000336.3(SCNN1B):c.1270+11G>T SNV Likely benign 318434 rs369905217 GRCh37: 16:23387187-23387187
GRCh38: 16:23375866-23375866
39 SCNN1B NM_000336.3(SCNN1B):c.428C>T (p.Ser143Phe) SNV Likely benign 318421 rs199810483 GRCh37: 16:23364238-23364238
GRCh38: 16:23352917-23352917
40 SCNN1B NM_000336.3(SCNN1B):c.246C>T (p.Ser82=) SNV Likely benign 318419 rs757137077 GRCh37: 16:23360166-23360166
GRCh38: 16:23348845-23348845
41 SCNN1B NM_000336.3(SCNN1B):c.586-15T>C SNV Likely benign 318424 rs371098444 GRCh37: 16:23366605-23366605
GRCh38: 16:23355284-23355284
42 SCNN1B NM_000336.3(SCNN1B):c.1764T>C (p.Phe588=) SNV Likely benign 318444 rs762486495 GRCh37: 16:23391963-23391963
GRCh38: 16:23380642-23380642
43 SCNN1B NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) SNV Benign/Likely benign 229239 rs140927806 GRCh37: 16:23391905-23391905
GRCh38: 16:23380584-23380584
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.245C>G (p.Ser82Cys) SNV Benign 8844 rs35731153 GRCh37: 16:23360165-23360165
GRCh38: 16:23348844-23348844
46 SCNN1B NM_000336.3(SCNN1B):c.1560G>A (p.Ser520=) SNV Benign 887856 GRCh37: 16:23391759-23391759
GRCh38: 16:23380438-23380438
47 SCNN1B NM_000336.3(SCNN1B):c.918C>T (p.Tyr306=) SNV Benign 887720 GRCh37: 16:23382657-23382657
GRCh38: 16:23371336-23371336
48 SCNN1B NM_000336.3(SCNN1B):c.1005C>T (p.Tyr335=) SNV Benign 887721 GRCh37: 16:23382744-23382744
GRCh38: 16:23371423-23371423
49 SCNN1B NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser) SNV Benign 8832 rs137852706 GRCh37: 16:23360029-23360029
GRCh38: 16:23348708-23348708
50 SCNN1B NM_000336.3(SCNN1B):c.6C>T (p.His2=) SNV Benign 887418 GRCh37: 16:23359926-23359926
GRCh38: 16:23348605-23348605

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

72
# 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 KEGG:

36
# Name Kegg Source Accession
1 Aldosterone-regulated sodium reabsorption hsa04960

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
2
Show member pathways
12.47 SLC12A3 SCNN1G SCNN1B SCNN1A NEDD4 CFTR
3
Show member pathways
12.3 WNK4 WNK1 SGK1 SCNN1G SCNN1B SCNN1A
4 11.9 UBE2S UBE2K NEDD4L NEDD4
5
Show member pathways
11.83 SCNN1G SCNN1B SCNN1A ASIC2
6 11.63 WNK4 WNK1 SGK1
7
Show member pathways
11.56 REN NR3C2 CYP11B2
8 11.2 SCNN1G SCNN1B SCNN1A NEDD4 CFTR
9 11.13 SGK1 SCNN1G SCNN1B SCNN1A NR3C2 NEDD4L
10 10.74 SCNN1G SCNN1B SCNN1A CFTR
11 10.74 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B

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 plasma membrane GO:0005886 10.15 SLC12A3 SGK1 SCNN1G SCNN1B SCNN1A REN
2 membrane GO:0016020 10.06 WNK4 WNK1 SLC12A3 SGK1 SCNN1G SCNN1B
3 integral component of plasma membrane GO:0005887 9.87 SLC12A3 SCNN1G SCNN1B SCNN1A CFTR ASIC5
4 apical plasma membrane GO:0016324 9.35 SLC12A3 SCNN1G SCNN1B SCNN1A CFTR
5 plasma membrane protein complex GO:0098797 9.26 SCNN1G SCNN1B
6 sodium channel complex GO:0034706 8.8 SCNN1G SCNN1B SCNN1A

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 9.93 UBE2S UBE2K NEDD4L NEDD4
2 protein polyubiquitination GO:0000209 9.92 UBE2S UBE2K NEDD4L NEDD4
3 ion transmembrane transport GO:0034220 9.86 SGK1 SCNN1G SCNN1B SCNN1A NEDD4L KCNJ1
4 ion transport GO:0006811 9.85 WNK4 WNK1 SLC12A3 SCNN1G SCNN1B SCNN1A
5 regulation of ion transmembrane transport GO:0034765 9.83 NEDD4L NEDD4 KCNJ1 ASIC2
6 regulation of membrane potential GO:0042391 9.8 NEDD4L NEDD4 ASIC2
7 sodium ion transmembrane transport GO:0035725 9.8 SLC12A3 SCNN1G SCNN1B SCNN1A ASIC5 ASIC2
8 excretion GO:0007588 9.73 SCNN1G SCNN1B NEDD4L KCNJ1
9 sensory perception of taste GO:0050909 9.71 SCNN1G SCNN1B SCNN1A
10 multicellular organismal water homeostasis GO:0050891 9.67 SCNN1G SCNN1B SCNN1A CFTR
11 regulation of dendrite morphogenesis GO:0048814 9.64 NEDD4L NEDD4
12 ion homeostasis GO:0050801 9.64 WNK4 WNK1
13 potassium ion homeostasis GO:0055075 9.63 SLC12A3 CYP11B2
14 negative regulation of sodium ion transport GO:0010766 9.63 WNK4 WNK1 NEDD4
15 intracellular steroid hormone receptor signaling pathway GO:0030518 9.61 NR3C2 NR3C1
16 negative regulation of sodium ion transmembrane transporter activity GO:2000650 9.61 NEDD4L NEDD4
17 glucocorticoid biosynthetic process GO:0006704 9.6 HSD11B2 CYP11B2
18 positive regulation of sodium ion transmembrane transporter activity GO:2000651 9.59 WNK4 WNK1
19 positive regulation of potassium ion import GO:1903288 9.58 WNK4 WNK1
20 regulation of potassium ion transmembrane transporter activity GO:1901016 9.58 NEDD4L NEDD4
21 cellular response to aldosterone GO:1904045 9.58 SGK1 SCNN1G SCNN1B
22 glucocorticoid receptor signaling pathway GO:0042921 9.57 NR3C1 NEDD4
23 free ubiquitin chain polymerization GO:0010994 9.56 UBE2S UBE2K
24 renal sodium ion absorption GO:0070294 9.55 WNK4 SGK1
25 negative regulation of pancreatic juice secretion GO:0090188 9.51 WNK4 WNK1
26 regulation of cellular process GO:0050794 9.49 WNK4 WNK1
27 regulation of blood volume by renal aldosterone GO:0002017 9.48 HSD11B2 CYP11B2
28 sodium ion homeostasis GO:0055078 9.35 SLC12A3 SCNN1G SCNN1B SCNN1A CYP11B2
29 sodium ion transport GO:0006814 9.23 SLC12A3 SGK1 SCNN1G SCNN1B SCNN1A NEDD4L

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.02 WNK4 WNK1 UBE2S UBE2K SGK1 KCNJ1
2 ubiquitin-protein transferase activity GO:0004842 9.76 UBE2S UBE2K NEDD4L NEDD4
3 WW domain binding GO:0050699 9.54 SCNN1G SCNN1B SCNN1A
4 steroid binding GO:0005496 9.5 NR3C2 NR3C1 HSD11B2
5 sodium channel inhibitor activity GO:0019871 9.43 NEDD4L NEDD4
6 chloride channel inhibitor activity GO:0019869 9.43 WNK4 WNK1 CFTR
7 chloride channel regulator activity GO:0017081 9.4 SGK1 CFTR
8 sodium channel activity GO:0005272 9.35 SCNN1G SCNN1B SCNN1A ASIC5 ASIC2
9 potassium channel inhibitor activity GO:0019870 9.33 WNK4 WNK1 NEDD4L
10 ligand-gated sodium channel activity GO:0015280 9.02 SCNN1G SCNN1B SCNN1A ASIC5 ASIC2

Sources for Liddle Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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