LIDLS
MCID: LDD007
MIFTS: 56

Liddle Syndrome 1 (LIDLS)

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
Liddle Syndrome 57 38 12 76 53 25 59 75 37 13 44 15
Pseudoaldosteronism 57 12 53 25 59 75
Pseudoprimary Hyperaldosteronism 25 29 6
Liddle's Syndrome 12 53
Lidls 57 75
Pseudohyperaldosteronism Type 1 59
Pseudohyperaldosteronism 57
Liddle Syndrome; Lidls 57
Liddles Syndrome 55
Syndrome, Liddle 40
Lidls1 57

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant (16p)


HPO:

32
liddle syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 177200
Disease Ontology 12 DOID:0050477
MeSH 44 D056929
NCIt 50 C84827
SNOMED-CT 68 71275003
Orphanet 59 ORPHA526
MESH via Orphanet 45 D056929
UMLS via Orphanet 74 C0221043
ICD10 via Orphanet 34 I15.1
MedGen 42 C0221043
KEGG 37 H00242
UMLS 73 C0221043

Summaries for Liddle Syndrome 1

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

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

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

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

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

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

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

Related Diseases for Liddle Syndrome 1

Diseases in the Liddle Syndrome 1 family:

Liddle Syndrome 2 Liddle Syndrome 3

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

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

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



Diseases related to Liddle Syndrome 1

Symptoms & Phenotypes for Liddle Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hypertension
pseudoaldosteronism

Renal:
renal failure
renal epithelial sodium channel defect

Lab:
hypokalemia
hypoaldosteronism
decreased renin
decreased angiotensin

Metabolic:
hypokalemic alkalosis


Clinical features from OMIM:

177200

Human phenotypes related to Liddle Syndrome 1:

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

MGI Mouse Phenotypes related to Liddle Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 ASIC2 CFTR HSD11B2 NEDD4L NR3C1 NR3C2
2 homeostasis/metabolism MP:0005376 10.11 CFTR CYP11B2 HSD11B2 NEDD4L NR3C1 NR3C2
3 cardiovascular system MP:0005385 10.09 ASIC2 CYP11B2 HSD11B2 NEDD4L NR3C1 NR3C2
4 mortality/aging MP:0010768 9.97 CFTR HSD11B2 NEDD4L NR3C1 NR3C2 REN
5 digestive/alimentary MP:0005381 9.95 CFTR HSD11B2 NEDD4L NR3C1 SCNN1A SCNN1B
6 muscle MP:0005369 9.73 ASIC2 HSD11B2 NEDD4L NR3C1 NR3C2 REN
7 normal MP:0002873 9.7 CFTR HSD11B2 NR3C1 REN SCNN1A SCNN1B
8 renal/urinary system MP:0005367 9.65 CYP11B2 HSD11B2 NEDD4L NR3C1 NR3C2 REN
9 respiratory system MP:0005388 9.1 CFTR NEDD4L NR3C1 SCNN1A SCNN1B SCNN1G

Drugs & Therapeutics for Liddle Syndrome 1

Search Clinical Trials , 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 Pseudoprimary Hyperaldosteronism 29 SCNN1B

Anatomical Context for Liddle Syndrome 1

MalaCards organs/tissues related to Liddle Syndrome 1:

41
Heart, Kidney, Cortex, Brain, Adrenal Gland, Adrenal Cortex
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 all 46)
# Title Authors Year
1
Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor. ( 29229744 )
2018
2
Liddle Syndrome: Review of the Literature and Description of a New Case. ( 29534496 )
2018
3
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B. ( 30496127 )
2018
4
Liddle Syndrome in Association with Aortic Dissection. ( 28589074 )
2017
5
A Missense Mutation in the Extracellular Domain of I+ENaC Causes Liddle Syndrome. ( 28710092 )
2017
6
Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review. ( 28396810 )
2017
7
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome. ( 28718682 )
2017
8
Liddle syndrome in a Turkish family with heterogeneous phenotypes. ( 27325428 )
2016
9
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel I^-subunit in a case of early-onset phenotype of Liddle syndrome. ( 27900368 )
2016
10
Liddle syndrome: clinical and genetic profiles. ( 27896928 )
2016
11
In Liddle Syndrome, Epithelial Sodium Channel Is Hyperactive Mainly in the Early Part of the Aldosterone-Sensitive Distal Nephron. ( 27170740 )
2016
12
Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population. ( 26075967 )
2015
13
Liddle syndrome phenotype in an octogenarian. ( 25427961 )
2015
14
A novel frameshift mutation of epithelial sodium channel I^-subunit leads to Liddle syndrome in an isolated case. ( 25378078 )
2014
15
A case of liddle syndrome: correspondence. ( 24827081 )
2014
16
Phenotype-genotype analysis in two Chinese families with Liddle syndrome. ( 24474657 )
2014
17
A Case of Liddle Syndrome: Author's Reply. ( 24827082 )
2014
18
A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel. ( 22809657 )
2013
19
A case of Liddle Syndrome. ( 23307437 )
2013
20
Liddle syndrome in a Serbian family and literature review of underlying mutations. ( 21956615 )
2012
21
Salt-induced hypertension in a mouse model of Liddle syndrome is mediated by epithelial sodium channels in the brain. ( 22802227 )
2012
22
High prevalence of liddle syndrome phenotype among hypertensive US Veterans in Northwest Louisiana. ( 21054772 )
2010
23
Role of the UPS in Liddle syndrome. ( 19007435 )
2008
24
The PY motif of ENaC, mutated in Liddle syndrome, regulates channel internalization, sorting and mobilization from subapical pool. ( 17605762 )
2007
25
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. ( 17634077 )
2007
26
Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit. ( 15856328 )
2005
27
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. ( 15690192 )
2005
28
Distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 14625721 )
2004
29
Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome. ( 12937297 )
2003
30
The distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 12759812 )
2003
31
A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome. ( 12473861 )
2002
32
Liddle syndrome in a newborn infant. ( 12185466 )
2002
33
Liddle syndrome: genetics and mechanisms of Na+ channel defects. ( 11780687 )
2001
34
Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members. ( 11393671 )
2001
35
Quantitative trait loci for blood pressure exist near the IGF-1, the Liddle syndrome, the angiotensin II-receptor gene and the renin loci in man. ( 10446938 )
1999
36
Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. ( 9637708 )
1998
37
The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. ( 9643296 )
1998
38
Liddle syndrome: an autosomal dominant form of human hypertension. ( 9452995 )
1998
39
Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. ( 8665845 )
1996
40
The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. ( 8987044 )
1996
41
Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. ( 8986818 )
1996
42
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. ( 8524790 )
1995
43
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. ( 7550319 )
1995
44
Liddle syndrome: clinical and cellular abnormalities. ( 8027210 )
1994
45
Liddle syndrome: sodium influx into RBC. ( 7365623 )
1980
46
Liddle syndrome. ( 480019 )
1979

Variations for Liddle Syndrome 1

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

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

ClinVar genetic disease variations for Liddle Syndrome 1:

6 (show top 50) (show all 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1G NM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs5736 GRCh37 Chromosome 16, 23200921: 23200921
2 SCNN1G NM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs5736 GRCh38 Chromosome 16, 23189600: 23189600
3 SCNN1G NM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs5738 GRCh37 Chromosome 16, 23200963: 23200963
4 SCNN1G NM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs5738 GRCh38 Chromosome 16, 23189642: 23189642
5 SCNN1B NM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter) single nucleotide variant Pathogenic rs137852704 GRCh37 Chromosome 16, 23391895: 23391895
6 SCNN1B NM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter) single nucleotide variant Pathogenic rs137852704 GRCh38 Chromosome 16, 23380574: 23380574
7 SCNN1B NM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu) single nucleotide variant Pathogenic rs387906402 GRCh37 Chromosome 16, 23392046: 23392046
8 SCNN1B NM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu) single nucleotide variant Pathogenic rs387906402 GRCh38 Chromosome 16, 23380725: 23380725
9 SCNN1B NM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His) single nucleotide variant Pathogenic rs137852707 GRCh37 Chromosome 16, 23392057: 23392057
10 SCNN1B NM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His) single nucleotide variant Pathogenic rs137852707 GRCh38 Chromosome 16, 23380736: 23380736
11 SCNN1B SCNN1B, 1-BP INS, 592C insertion Pathogenic
12 SCNN1B SCNN1B, 32-BP DEL deletion Pathogenic
13 SCNN1B NM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser) single nucleotide variant Pathogenic rs137852708 GRCh37 Chromosome 16, 23392048: 23392048
14 SCNN1B NM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser) single nucleotide variant Pathogenic rs137852708 GRCh38 Chromosome 16, 23380727: 23380727
15 SCNN1B NM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg) single nucleotide variant Pathogenic rs387906402 GRCh37 Chromosome 16, 23392046: 23392046
16 SCNN1B NM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg) single nucleotide variant Pathogenic rs387906402 GRCh38 Chromosome 16, 23380725: 23380725
17 SCNN1G NM_001039.3(SCNN1G): c.474T> C (p.Ile158=) single nucleotide variant Benign rs5735 GRCh37 Chromosome 16, 23200848: 23200848
18 SCNN1G NM_001039.3(SCNN1G): c.474T> C (p.Ile158=) single nucleotide variant Benign rs5735 GRCh38 Chromosome 16, 23189527: 23189527
19 SCNN1G NM_001039.3(SCNN1G): c.636C> T (p.Ser212=) single nucleotide variant Benign/Likely benign rs5739 GRCh38 Chromosome 16, 23192369: 23192369
20 SCNN1G NM_001039.3(SCNN1G): c.636C> T (p.Ser212=) single nucleotide variant Benign/Likely benign rs5739 GRCh37 Chromosome 16, 23203690: 23203690
21 SCNN1G NM_001039.3(SCNN1G): c.1176+14A> G single nucleotide variant Benign rs5740 GRCh37 Chromosome 16, 23221183: 23221183
22 SCNN1G NM_001039.3(SCNN1G): c.1176+14A> G single nucleotide variant Benign rs5740 GRCh38 Chromosome 16, 23209862: 23209862
23 SCNN1G NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=) single nucleotide variant Benign rs5723 GRCh37 Chromosome 16, 23226787: 23226787
24 SCNN1G NM_001039.3(SCNN1G): c.1947C> G (p.Leu649=) single nucleotide variant Benign rs5723 GRCh38 Chromosome 16, 23215466: 23215466
25 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh37 Chromosome 16, 23360199: 23360199
26 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh38 Chromosome 16, 23348878: 23348878
27 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh38 Chromosome 16, 23375806: 23375806
28 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh37 Chromosome 16, 23387127: 23387127
29 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh38 Chromosome 16, 23377219: 23377219
30 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh37 Chromosome 16, 23388540: 23388540
31 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh37 Chromosome 16, 23391401: 23391401
32 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh38 Chromosome 16, 23380080: 23380080
33 SCNN1G NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=) single nucleotide variant Benign rs5734 GRCh37 Chromosome 16, 23200761: 23200761
34 SCNN1G NM_001039.3(SCNN1G): c.387T> C (p.Tyr129=) single nucleotide variant Benign rs5734 GRCh38 Chromosome 16, 23189440: 23189440
35 SCNN1G NM_001039.3(SCNN1G): c.549C> T (p.Gly183=) single nucleotide variant Benign rs5737 GRCh37 Chromosome 16, 23200923: 23200923
36 SCNN1G NM_001039.3(SCNN1G): c.549C> T (p.Gly183=) single nucleotide variant Benign rs5737 GRCh38 Chromosome 16, 23189602: 23189602
37 SCNN1G NM_001039.3(SCNN1G): c.1432-7G> A single nucleotide variant Benign rs13306653 GRCh37 Chromosome 16, 23224416: 23224416
38 SCNN1G NM_001039.3(SCNN1G): c.1432-7G> A single nucleotide variant Benign rs13306653 GRCh38 Chromosome 16, 23213095: 23213095
39 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh38 Chromosome 16, 23367958: 23367958
40 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh37 Chromosome 16, 23379279: 23379279
41 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh37 Chromosome 16, 23388704: 23388704
42 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh38 Chromosome 16, 23377383: 23377383
43 SCNN1B NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser) single nucleotide variant Likely benign rs61759926 GRCh37 Chromosome 16, 23391964: 23391964
44 SCNN1B NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser) single nucleotide variant Likely benign rs61759926 GRCh38 Chromosome 16, 23380643: 23380643
45 SCNN1B NM_000336.2(SCNN1B): c.777-5T> C single nucleotide variant Benign/Likely benign rs61759915 GRCh38 Chromosome 16, 23367851: 23367851
46 SCNN1B NM_000336.2(SCNN1B): c.777-5T> C single nucleotide variant Benign/Likely benign rs61759915 GRCh37 Chromosome 16, 23379172: 23379172
47 SCNN1B NM_000336.2(SCNN1B): c.1706C> T (p.Ala569Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140927806 GRCh37 Chromosome 16, 23391905: 23391905
48 SCNN1B NM_000336.2(SCNN1B): c.1706C> T (p.Ala569Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140927806 GRCh38 Chromosome 16, 23380584: 23380584
49 SCNN1B NM_000336.2(SCNN1B): c.1782G> A (p.Thr594=) single nucleotide variant Benign/Likely benign rs13306628 GRCh37 Chromosome 16, 23391981: 23391981
50 SCNN1B NM_000336.2(SCNN1B): c.1782G> A (p.Thr594=) single nucleotide variant Benign/Likely benign rs13306628 GRCh38 Chromosome 16, 23380660: 23380660

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:

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 ASIC2 CFTR NEDD4L SCNN1A SCNN1B SCNN1G
2
Show member pathways
12.39 CFTR NEDD4 SCNN1A SCNN1B SCNN1G
3
Show member pathways
12.29 ASIC2 NEDD4L SCNN1A SCNN1B SCNN1G WNK4
4 11.88 CFTR NEDD4 NEDD4L
5
Show member pathways
11.76 ASIC2 SCNN1A SCNN1B SCNN1G
6
Show member pathways
11.54 CYP11B2 NR3C2 REN
7 11.1 CFTR NEDD4 SCNN1A SCNN1B SCNN1G
8 10.82 NEDD4L SCNN1A SCNN1B SCNN1G WNK4
9 10.67 CFTR SCNN1A SCNN1B SCNN1G
10 10.67 HSD11B2 NEDD4L NR3C2 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 9.9 ASIC2 CFTR CYP11B2 HSD11B2 NEDD4 NR3C2
2 apical plasma membrane GO:0016324 9.26 CFTR SCNN1A SCNN1B SCNN1G
3 sodium channel complex GO:0034706 8.8 SCNN1A SCNN1B SCNN1G

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

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

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

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

Sources for Liddle Syndrome 1

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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