MCID: LDD002
MIFTS: 54

Liddle Syndrome

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

Aliases & Classifications for Liddle Syndrome

MalaCards integrated aliases for Liddle Syndrome:

Name: Liddle Syndrome 57 38 12 76 53 25 59 75 37 13 44 15 73
Pseudoaldosteronism 57 12 53 25 59 75
Pseudoprimary Hyperaldosteronism 25 29 6 73
Liddle's Syndrome 12 53
Lidls 57 75
Pseudohyperaldosteronism Type 1 59
Liddles Syndrome 55
Syndrome, Liddle 40

Characteristics:

Orphanet epidemiological data:

59
liddle syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant (16p)


HPO:

32
liddle syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 177200
Disease Ontology 12 DOID:0050477
MeSH 44 D056929
NCIt 50 C84827
Orphanet 59 ORPHA526
MESH via Orphanet 45 D056929
UMLS via Orphanet 74 C0221043
ICD10 via Orphanet 34 I15.1
MedGen 42 C0221043
KEGG 37 H00242

Summaries for Liddle Syndrome

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

MalaCards based summary : Liddle Syndrome, also known as pseudoaldosteronism, is related to hypokalemia and pseudohypoaldosteronism. An important gene associated with Liddle Syndrome is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways/superpathways are Aldosterone-regulated sodium reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs glycyrrhizin and Licorice have been mentioned in the context of this disorder. Affiliated tissues include Kidney, heart and kidney, and related phenotypes are renal insufficiency and nephropathy

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). Hanukoglu and Hanukoglu (2016) provided a detailed review of the ENaC gene family, including structure, function, tissue distribution, and associated inherited diseases. (177200)

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

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

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

Related Diseases for Liddle Syndrome

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 29.3 HSD11B2 NR3C1 REN
2 pseudohypoaldosteronism 28.8 NR3C2 REN SCNN1A SCNN1B SCNN1G
3 apparent mineralocorticoid excess 28.4 HSD11B2 NR3C1 NR3C2 REN
4 miliaria rubra 10.5 CFTR SCNN1G
5 bronchiectasis with or without elevated sweat chloride 1 10.4 CFTR SCNN1B
6 miliaria 10.4 CFTR SCNN1G
7 renal tubular transport disease 10.3 REN SCNN1B SCNN1G
8 arthrogryposis, distal, type 3 10.1 NR3C2 REN
9 bartter syndrome, type 2, antenatal 10.1 NR3C2 SCNN1B SCNN1G
10 pure autonomic failure 10.0 NEDD4L REN
11 idiopathic bronchiectasis 10.0 CFTR SCNN1A SCNN1B SCNN1G
12 bronchiectasis 9.9 CFTR SCNN1A SCNN1B SCNN1G
13 renal tubular acidosis 9.9 NR3C2 REN SCNN1G
14 hypophosphatemia 9.9
15 pneumonia 9.9
16 hypoaldosteronism 9.8 CYP11B2 REN
17 aldosterone-producing adenoma 9.8 CYP11B2 REN
18 nephrotic syndrome 9.8
19 corticosteroid-binding globulin deficiency 9.7 HSD11B2 NR3C1
20 adult syndrome 9.6 HSD11B2 NR3C1
21 anuria 9.5 HSD11B2 NR3C2 REN
22 cystic fibrosis 9.4 CFTR SCNN1A SCNN1B SCNN1G SGK1
23 pseudohypoaldosteronism, type i, autosomal recessive 9.4 NR3C2 REN SCNN1A SCNN1B SCNN1G
24 steroid inherited metabolic disorder 9.4 CYP11B2 HSD11B2
25 endocrine organ benign neoplasm 9.3 CYP11B2 NR3C2 REN
26 pseudohyperkalemia, familial, 2, due to red cell leak 9.0 CYP11B2 NR3C2 REN SCNN1G
27 hypertensive heart disease 9.0 CYP11B2 NR3C2
28 pseudohypoaldosteronism, type i, autosomal dominant 8.9 NR3C2 REN SCNN1A SCNN1B SCNN1G SGK1
29 hyperaldosteronism, familial, type i 8.0 CYP11B2 HSD11B2 NR3C1 NR3C2 REN
30 adrenal cortex disease 8.0 CYP11B2 HSD11B2 NR3C1 NR3C2 REN
31 adrenal gland disease 8.0 CYP11B2 HSD11B2 NR3C1 NR3C2 REN
32 conn's syndrome 8.0 CYP11B2 HSD11B2 NR3C1 NR3C2 REN
33 hypertension, essential 7.6 CYP11B2 HSD11B2 NEDD4L NR3C1 NR3C2 REN

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



Diseases related to Liddle Syndrome

Symptoms & Phenotypes for Liddle Syndrome

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hypertension
pseudoaldosteronism

Renal:
renal failure
renal epithelial sodium channel defect

Lab:
hypokalemia
hypoaldosteronism
decreased renin
decreased angiotensin

Metabolic:
hypokalemic alkalosis


Clinical features from OMIM:

177200

Human phenotypes related to Liddle Syndrome:

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

MGI Mouse Phenotypes related to Liddle Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 NR3C1 CFTR NR3C2 HSD11B2 REN NEDD4L
2 homeostasis/metabolism MP:0005376 10.06 NR3C2 CYP11B2 HSD11B2 REN NEDD4L SCNN1A
3 growth/size/body region MP:0005378 10.02 CFTR NR3C2 CYP11B2 REN SCNN1A NR3C1
4 cardiovascular system MP:0005385 9.98 NR3C1 NR3C2 CYP11B2 HSD11B2 REN NEDD4L
5 digestive/alimentary MP:0005381 9.95 HSD11B2 NEDD4L SCNN1A NR3C1 CFTR SCNN1G
6 mortality/aging MP:0010768 9.91 NR3C1 CFTR NR3C2 HSD11B2 REN NEDD4L
7 normal MP:0002873 9.7 REN HSD11B2 SCNN1A NR3C1 CFTR SCNN1G
8 renal/urinary system MP:0005367 9.65 NR3C2 CYP11B2 HSD11B2 REN NEDD4L SCNN1A
9 respiratory system MP:0005388 9.1 CFTR NEDD4L SCNN1A NR3C1 SCNN1B SCNN1G

Drugs & Therapeutics for Liddle Syndrome

Drugs for Liddle Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
glycyrrhizin Approved, Experimental Phase 1, Phase 2 1405-86-3 3495
2 Licorice Approved, Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Whole Extract of Licorice in Neurological Improvement of Patients After Acute Ischemic Stroke Completed NCT02473458 Phase 1, Phase 2 Licorice whole extract;Placebo
2 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

Cochrane evidence based reviews: liddle syndrome

Genetic Tests for Liddle Syndrome

Genetic tests related to Liddle Syndrome:

# Genetic test Affiliating Genes
1 Pseudoprimary Hyperaldosteronism 29 SCNN1B SCNN1G

Anatomical Context for Liddle Syndrome

MalaCards organs/tissues related to Liddle Syndrome:

41
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:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Renal Collecting Duct System Collecting Duct Cells Potential therapeutic candidate, affected by disease

Publications for Liddle Syndrome

Articles related to Liddle Syndrome:

(show all 45)
# Title Authors Year
1
Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor. ( 29229744 )
2018
2
Liddle Syndrome: Review of the Literature and Description of a New Case. ( 29534496 )
2018
3
Liddle Syndrome in Association with Aortic Dissection. ( 28589074 )
2017
4
A Missense Mutation in the Extracellular Domain of I+ENaC Causes Liddle Syndrome. ( 28710092 )
2017
5
Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review. ( 28396810 )
2017
6
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. ( 28718682 )
2017
7
Liddle syndrome in a Turkish family with heterogeneous phenotypes. ( 27325428 )
2016
8
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel I^-subunit in a case of early-onset phenotype of Liddle syndrome. ( 27900368 )
2016
9
Liddle syndrome: clinical and genetic profiles. ( 27896928 )
2016
10
In Liddle Syndrome, Epithelial Sodium Channel Is Hyperactive Mainly in the Early Part of the Aldosterone-Sensitive Distal Nephron. ( 27170740 )
2016
11
Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population. ( 26075967 )
2015
12
Liddle syndrome phenotype in an octogenarian. ( 25427961 )
2015
13
A novel frameshift mutation of epithelial sodium channel I^-subunit leads to Liddle syndrome in an isolated case. ( 25378078 )
2014
14
A case of liddle syndrome: correspondence. ( 24827081 )
2014
15
Phenotype-genotype analysis in two Chinese families with Liddle syndrome. ( 24474657 )
2014
16
A Case of Liddle Syndrome: Author's Reply. ( 24827082 )
2014
17
A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel. ( 22809657 )
2013
18
A case of Liddle Syndrome. ( 23307437 )
2013
19
Liddle syndrome in a Serbian family and literature review of underlying mutations. ( 21956615 )
2012
20
Salt-induced hypertension in a mouse model of Liddle syndrome is mediated by epithelial sodium channels in the brain. ( 22802227 )
2012
21
High prevalence of liddle syndrome phenotype among hypertensive US Veterans in Northwest Louisiana. ( 21054772 )
2010
22
Role of the UPS in Liddle syndrome. ( 19007435 )
2008
23
The PY motif of ENaC, mutated in Liddle syndrome, regulates channel internalization, sorting and mobilization from subapical pool. ( 17605762 )
2007
24
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. ( 17634077 )
2007
25
Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit. ( 15856328 )
2005
26
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. ( 15690192 )
2005
27
Distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 14625721 )
2004
28
Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome. ( 12937297 )
2003
29
The distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 12759812 )
2003
30
A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome. ( 12473861 )
2002
31
Liddle syndrome in a newborn infant. ( 12185466 )
2002
32
Liddle syndrome: genetics and mechanisms of Na+ channel defects. ( 11780687 )
2001
33
Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members. ( 11393671 )
2001
34
Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man. ( 10446938 )
1999
35
Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. ( 9637708 )
1998
36
The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. ( 9643296 )
1998
37
Liddle syndrome: an autosomal dominant form of human hypertension. ( 9452995 )
1998
38
Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. ( 8665845 )
1996
39
The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. ( 8987044 )
1996
40
Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. ( 8986818 )
1996
41
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. ( 8524790 )
1995
42
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. ( 7550319 )
1995
43
Liddle syndrome: clinical and cellular abnormalities. ( 8027210 )
1994
44
Liddle syndrome: sodium influx into RBC. ( 7365623 )
1980
45
Liddle syndrome. ( 480019 )
1979

Variations for Liddle Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 SCNN1B p.Pro616Leu VAR_007128 rs387906402
2 SCNN1B p.Pro616Ser VAR_007129
3 SCNN1B p.Pro617Ser VAR_026520 rs137852708
4 SCNN1B p.Pro618Arg VAR_026521 rs137852705
5 SCNN1B p.Tyr620His VAR_026522 rs137852707

ClinVar genetic disease variations for Liddle Syndrome:

6
(show top 50) (show all 186)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1G NM_001039.3(SCNN1G): c.1718G> A (p.Trp573Ter) single nucleotide variant Pathogenic rs137853342 GRCh37 Chromosome 16, 23226558: 23226558
2 SCNN1G NM_001039.3(SCNN1G): c.1718G> A (p.Trp573Ter) single nucleotide variant Pathogenic rs137853342 GRCh38 Chromosome 16, 23215237: 23215237
3 SCNN1B NM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter) single nucleotide variant Pathogenic rs137852704 GRCh37 Chromosome 16, 23391895: 23391895
4 SCNN1B NM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter) single nucleotide variant Pathogenic rs137852704 GRCh38 Chromosome 16, 23380574: 23380574
5 SCNN1B NM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu) single nucleotide variant Pathogenic rs387906402 GRCh37 Chromosome 16, 23392046: 23392046
6 SCNN1B NM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu) single nucleotide variant Pathogenic rs387906402 GRCh38 Chromosome 16, 23380725: 23380725
7 SCNN1B NM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His) single nucleotide variant Pathogenic rs137852707 GRCh37 Chromosome 16, 23392057: 23392057
8 SCNN1B NM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His) single nucleotide variant Pathogenic rs137852707 GRCh38 Chromosome 16, 23380736: 23380736
9 SCNN1B SCNN1B, 1-BP INS, 592C insertion Pathogenic
10 SCNN1B SCNN1B, 32-BP DEL deletion Pathogenic
11 SCNN1B NM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser) single nucleotide variant Pathogenic rs137852708 GRCh37 Chromosome 16, 23392048: 23392048
12 SCNN1B NM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser) single nucleotide variant Pathogenic rs137852708 GRCh38 Chromosome 16, 23380727: 23380727
13 SCNN1B NM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg) single nucleotide variant Pathogenic rs387906402 GRCh37 Chromosome 16, 23392046: 23392046
14 SCNN1B NM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg) single nucleotide variant Pathogenic rs387906402 GRCh38 Chromosome 16, 23380725: 23380725
15 SCNN1G NM_001039.3(SCNN1G): c.474T> C (p.Ile158=) single nucleotide variant Benign rs5735 GRCh37 Chromosome 16, 23200848: 23200848
16 SCNN1G NM_001039.3(SCNN1G): c.474T> C (p.Ile158=) single nucleotide variant Benign rs5735 GRCh38 Chromosome 16, 23189527: 23189527
17 SCNN1G NM_001039.3(SCNN1G): c.636C> T (p.Ser212=) single nucleotide variant Benign/Likely benign rs5739 GRCh37 Chromosome 16, 23203690: 23203690
18 SCNN1G NM_001039.3(SCNN1G): c.636C> T (p.Ser212=) single nucleotide variant Benign/Likely benign rs5739 GRCh38 Chromosome 16, 23192369: 23192369
19 SCNN1G NM_001039.3(SCNN1G): c.1176+14A> G single nucleotide variant Benign rs5740 GRCh37 Chromosome 16, 23221183: 23221183
20 SCNN1G NM_001039.3(SCNN1G): c.1176+14A> G single nucleotide variant Benign rs5740 GRCh38 Chromosome 16, 23209862: 23209862
21 SCNN1G NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=) single nucleotide variant Benign rs5723 GRCh37 Chromosome 16, 23226787: 23226787
22 SCNN1G NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=) single nucleotide variant Benign rs5723 GRCh38 Chromosome 16, 23215466: 23215466
23 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh37 Chromosome 16, 23360199: 23360199
24 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh38 Chromosome 16, 23348878: 23348878
25 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh37 Chromosome 16, 23387127: 23387127
26 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh38 Chromosome 16, 23375806: 23375806
27 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh37 Chromosome 16, 23388540: 23388540
28 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh38 Chromosome 16, 23377219: 23377219
29 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh37 Chromosome 16, 23391401: 23391401
30 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh38 Chromosome 16, 23380080: 23380080
31 SCNN1G NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=) single nucleotide variant Benign rs5734 GRCh37 Chromosome 16, 23200761: 23200761
32 SCNN1G NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=) single nucleotide variant Benign rs5734 GRCh38 Chromosome 16, 23189440: 23189440
33 SCNN1G NM_001039.3(SCNN1G): c.549C> T (p.Gly183=) single nucleotide variant Benign rs5737 GRCh37 Chromosome 16, 23200923: 23200923
34 SCNN1G NM_001039.3(SCNN1G): c.549C> T (p.Gly183=) single nucleotide variant Benign rs5737 GRCh38 Chromosome 16, 23189602: 23189602
35 SCNN1G NM_001039.3(SCNN1G): c.1432-7G> A single nucleotide variant Benign rs13306653 GRCh37 Chromosome 16, 23224416: 23224416
36 SCNN1G NM_001039.3(SCNN1G): c.1432-7G> A single nucleotide variant Benign rs13306653 GRCh38 Chromosome 16, 23213095: 23213095
37 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh37 Chromosome 16, 23379279: 23379279
38 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh38 Chromosome 16, 23367958: 23367958
39 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh37 Chromosome 16, 23388704: 23388704
40 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh38 Chromosome 16, 23377383: 23377383
41 SCNN1B NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser) single nucleotide variant Likely benign rs61759926 GRCh37 Chromosome 16, 23391964: 23391964
42 SCNN1B NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser) single nucleotide variant Likely benign rs61759926 GRCh38 Chromosome 16, 23380643: 23380643
43 SCNN1B NM_000336.2(SCNN1B): c.777-5T> C single nucleotide variant Benign/Likely benign rs61759915 GRCh38 Chromosome 16, 23367851: 23367851
44 SCNN1B NM_000336.2(SCNN1B): c.777-5T> C single nucleotide variant Benign/Likely benign rs61759915 GRCh37 Chromosome 16, 23379172: 23379172
45 SCNN1B NM_000336.2(SCNN1B): c.1706C> T (p.Ala569Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140927806 GRCh37 Chromosome 16, 23391905: 23391905
46 SCNN1B NM_000336.2(SCNN1B): c.1706C> T (p.Ala569Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140927806 GRCh38 Chromosome 16, 23380584: 23380584
47 SCNN1B NM_000336.2(SCNN1B): c.1782G> A (p.Thr594=) single nucleotide variant Benign/Likely benign rs13306628 GRCh37 Chromosome 16, 23391981: 23391981
48 SCNN1B NM_000336.2(SCNN1B): c.1782G> A (p.Thr594=) single nucleotide variant Benign/Likely benign rs13306628 GRCh38 Chromosome 16, 23380660: 23380660
49 SCNN1G NM_001039.3(SCNN1G): c.1575G> A (p.Glu525=) single nucleotide variant Conflicting interpretations of pathogenicity rs72647541 GRCh37 Chromosome 16, 23226415: 23226415
50 SCNN1G NM_001039.3(SCNN1G): c.1575G> A (p.Glu525=) single nucleotide variant Conflicting interpretations of pathogenicity rs72647541 GRCh38 Chromosome 16, 23215094: 23215094

Expression for Liddle Syndrome

Search GEO for disease gene expression data for Liddle Syndrome.

Pathways for Liddle Syndrome

Pathways related to Liddle Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Aldosterone-regulated sodium reabsorption hsa04960

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 ASIC5 CFTR NEDD4L SCNN1A SCNN1B SCNN1G
2
Show member pathways
12.36 CFTR NEDD4 SCNN1A SCNN1B SCNN1G
3
Show member pathways
12.29 ASIC5 NEDD4L SCNN1A SCNN1B SCNN1G SGK1
4 11.88 CFTR NEDD4 NEDD4L
5
Show member pathways
11.72 SCNN1A SCNN1B SCNN1G
6
Show member pathways
11.51 CYP11B2 NR3C2 REN
7 11.1 CFTR NEDD4 SCNN1A SCNN1B SCNN1G
8 10.82 NEDD4L SCNN1A SCNN1B SCNN1G SGK1
9 10.74 HSD11B2 NEDD4L NR3C2 SCNN1A SCNN1B SCNN1G
10 10.67 CFTR SCNN1A SCNN1B SCNN1G

GO Terms for Liddle Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 ASIC5 CFTR NEDD4 NEDD4L REN SCNN1A
2 membrane GO:0016020 9.9 ASIC5 CFTR CYP11B2 HSD11B2 NEDD4 NR3C2
3 apical plasma membrane GO:0016324 9.26 CFTR SCNN1A SCNN1B SCNN1G
4 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.92 ASIC5 CFTR SCNN1A SCNN1B SCNN1G
2 ion transmembrane transport GO:0034220 9.73 ASIC5 NEDD4L SCNN1A SCNN1B SCNN1G SGK1
3 sodium ion transmembrane transport GO:0035725 9.62 ASIC5 SCNN1A SCNN1B SCNN1G
4 sensory perception of taste GO:0050909 9.61 SCNN1A SCNN1B SCNN1G
5 excretion GO:0007588 9.58 NEDD4L SCNN1B SCNN1G
6 regulation of dendrite morphogenesis GO:0048814 9.54 NEDD4 NEDD4L
7 glucocorticoid biosynthetic process GO:0006704 9.51 CYP11B2 HSD11B2
8 negative regulation of sodium ion transmembrane transporter activity GO:2000650 9.49 NEDD4 NEDD4L
9 glucocorticoid receptor signaling pathway GO:0042921 9.48 NEDD4 NR3C1
10 regulation of potassium ion transmembrane transporter activity GO:1901016 9.46 NEDD4 NEDD4L
11 sodium ion homeostasis GO:0055078 9.46 CYP11B2 SCNN1A SCNN1B SCNN1G
12 sodium ion transport GO:0006814 9.43 ASIC5 NEDD4L SCNN1A SCNN1B SCNN1G SGK1
13 regulation of blood volume by renal aldosterone GO:0002017 9.37 CYP11B2 HSD11B2
14 multicellular organismal water homeostasis GO:0050891 8.92 CFTR SCNN1A SCNN1B SCNN1G

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

# Name GO ID Score Top Affiliating Genes
1 potassium channel regulator activity GO:0015459 9.43 NEDD4L SGK1
2 sodium channel regulator activity GO:0017080 9.4 NEDD4L SGK1
3 sodium channel activity GO:0005272 9.37 SCNN1A SCNN1G
4 steroid binding GO:0005496 9.33 HSD11B2 NR3C1 NR3C2
5 chloride channel regulator activity GO:0017081 9.32 CFTR SGK1
6 sodium channel inhibitor activity GO:0019871 9.26 NEDD4 NEDD4L
7 WW domain binding GO:0050699 9.13 SCNN1A SCNN1B SCNN1G
8 ligand-gated sodium channel activity GO:0015280 8.92 ASIC5 SCNN1A SCNN1B SCNN1G

Sources for Liddle Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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