MCID: LDD002
MIFTS: 56

Liddle Syndrome malady

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

Aliases & Classifications for Liddle Syndrome

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Sources:
49OMIM, 32LifeMap Discovery®, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 47Novoseek, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Liddle Syndrome:

Name: Liddle Syndrome 49 32 10 11 45 23 12 51 67 36 65
Pseudoaldosteronism 10 45 23 51 67
Pseudoprimary Hyperaldosteronism 23 24 65
Liddle's Syndrome 10 45
 
Pseudohyperaldosteronism Type 1 51
Liddles Syndrome 47
Lidls 67

Characteristics:

Orphanet epidemiological data:

51
liddle syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult

HPO:

61
liddle syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 177200
Disease Ontology10 DOID:0050477
MeSH36 D056929
NCIt42 C84827
Orphanet51 526
ICD10 via Orphanet28 I15.1
MESH via Orphanet37 D056929
UMLS via Orphanet66 C0221043
MedGen34 C0221043
UMLS65 C0221043, C3854315

Summaries for Liddle Syndrome

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NIH Rare Diseases:45 Liddle syndrome is a rare, inherited form of high blood pressure (hypertension). the condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. it 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. last updated: 9/21/2012

MalaCards based summary: Liddle Syndrome, also known as pseudoaldosteronism, is related to liddle syndrome, scnn1b-related and liddle syndrome, scnn1g-related, and has symptoms including arrhythmia, hypokalemia and constipation. An important gene associated with Liddle Syndrome is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways are Taste transduction and NO-dependent CFTR activation (normal and CF). Affiliated tissues include heart, prostate and brain, and related mouse phenotypes are respiratory system and normal.

Genetics Home Reference:23 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:49 Liddle syndrome is an autosomal dominant disorder characterized by early-onset salt-sensitive hypertension,... (177200) more...

UniProtKB/Swiss-Prot:67 Liddle syndrome: An autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.

Related Diseases for Liddle Syndrome

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Diseases in the Liddle Syndrome family:

Liddle Syndrome, Scnn1b-Related Liddle Syndrome, Scnn1g-Related

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1liddle syndrome, scnn1b-related12.4
2liddle syndrome, scnn1g-related12.4
3bronchiectasis with or without elevated sweat chloride 310.3CFTR, SCNN1B
4purpura simplex10.2NEDD4L, REN
5richter's syndrome10.1HSD11B2, REN
6hypochromic microcytic anemia with iron overload10.1CYP11B2, REN
7schizophrenia10.1
8chediak-higashi syndrome10.1
9renal cell carcinoma10.1
10bipolar disorder10.1
11chromophobe renal cell carcinoma10.1
12gastric cancer10.1
13hepatitis10.1
14liver disease10.1
15primary biliary cirrhosis10.1
16panuveitis10.1
17prostatitis10.1
18status epilepticus10.1
19basal cell carcinoma10.1
20prostate adenocarcinoma10.1
21phimosis10.1
22adenocarcinoma10.1
23radiculopathy10.1
24cowden disease10.1
25leishmaniasis10.1
26visceral leishmaniasis10.1
27adenomyosis10.1
28fibromuscular dysplasia10.1
29gianotti crosti syndrome10.1
30hypoxia10.1
31right aortic arch10.1
32pulmonary nodular lymphoid hyperplasia10.0CFTR, SCNN1A, SCNN1B, SCNN1G
33dextrocardia10.0CFTR, SCNN1A, SCNN1B, SCNN1G
34bronchiectasis with or without elevated sweat chloride 210.0NR3C2, SCNN1A, SCNN1B, SCNN1G
35congenital bilateral absence of vas deferens9.9CFTR, SCNN1A, SCNN1B, SCNN1G
36ethmoid sinus inverted papilloma9.9CYP11B2, REN
37marden-walker syndrome9.9NR3C2, REN, WNK4
38iga glomerulonephritis9.9HSD11B2, NR3C2, REN
39chromophobe adenocarcinoma9.9REN, SCNN1B, SCNN1G, WNK4
40male reproductive organ benign neoplasm9.9CYP11B2, REN
41paget disease of bone 49.9NR3C1, NR3C2
42sympathetic ophthalmia9.8CYP11B2, NR3C2, REN
43central nervous system organ benign neoplasm9.8CYP11B2, NR3C2, REN
44multilocular clear cell renal cell carcinoma9.8CYP11B2, NR3C2, REN
45basal cell carcinoma 79.8CYP11B2, HSD11B2
46borderline glaucoma9.7HSD11B2, NR3C1
47non-invasive bladder urothelial carcinoma9.7CYP11B2, HSD11B2, REN
48pulmonary emphysema9.6NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK4
49medulloadrenal hyperfunction9.6HSD11B2, NR3C1, NR3C2
50adrenal carcinoma9.6NR3C1, NR3C2

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



Diseases related to liddle syndrome

Symptoms for Liddle Syndrome

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Symptoms by clinical synopsis from OMIM:

177200

Clinical features from OMIM:

177200

Symptoms:

 51 (show all 10)
  • constipation
  • cardiac rhythm disorder/arrhythmia
  • chronic arterial hypertension
  • hypokalemia
  • autosomal dominant inheritance
  • renal disease/nephropathy
  • renal failure
  • transient cerebral ischemia/stroke
  • muscle weakness/flaccidity
  • asthenia/fatigue/weakness

HPO human phenotypes related to Liddle Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 arrhythmia hallmark (90%) HP:0011675
2 hypokalemia hallmark (90%) HP:0002900
3 constipation hallmark (90%) HP:0002019
4 hypertension hallmark (90%) HP:0000822
5 cerebral ischemia typical (50%) HP:0002637
6 muscle weakness typical (50%) HP:0001324
7 nephropathy typical (50%) HP:0000112
8 renal insufficiency typical (50%) HP:0000083
9 hypoaldosteronism HP:0004319
10 decreased circulating renin level HP:0003351
11 hypokalemia HP:0002900
12 hypokalemic alkalosis HP:0001949
13 hypertension HP:0000822
14 renal insufficiency HP:0000083

Drugs & Therapeutics for Liddle Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and HypertensionSuspendedNCT00448162

Search NIH Clinical Center for Liddle Syndrome


Cochrane evidence based reviews: liddle syndrome

Genetic Tests for Liddle Syndrome

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Anatomical Context for Liddle Syndrome

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MalaCards organs/tissues related to Liddle Syndrome:

33
Heart, Prostate, Brain, Liver, Lung, B cells, Testes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Liddle Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 KidneyRenal Collecting Duct SystemCollecting Duct Cells Potential therapeutic candidate, affected by disease

Animal Models for Liddle Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Liddle Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6CFTR, NEDD4L, NR3C1, SCNN1A, SCNN1B, SCNN1G
2MP:00028738.2CFTR, HSD11B2, NR3C1, REN, SCNN1A, SCNN1B
3MP:00053867.6CFTR, HSD11B2, NEDD4L, NR3C1, NR3C2, REN
4MP:00053787.1CFTR, CYP11B2, NR3C1, NR3C2, REN, SCNN1A
5MP:00053857.0CYP11B2, HSD11B2, NEDD4L, NR3C1, NR3C2, REN
6MP:00107687.0CFTR, HSD11B2, NEDD4L, NR3C1, NR3C2, REN
7MP:00053676.6CYP11B2, HSD11B2, NEDD4L, NR3C1, NR3C2, REN
8MP:00053766.1CFTR, CYP11B2, HSD11B2, NEDD4L, NR3C1, NR3C2

Publications for Liddle Syndrome

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Articles related to Liddle Syndrome:

(show all 35)
idTitleAuthorsYear
1
A t(17;19)(q22;p13.3) Involving TCF3, a t(1;9)(p13;p13), and a 5' IGH Deletion in a Case of Adult B-cell Acute Lymphoblastic Leukemia. (27183380)
2016
2
Decoding NF1 Intragenic Copy-Number Variations. (26189818)
2015
3
Borderline tuberculoid leprosy with type 1/reversal reaction. (24481019)
2014
4
Detection of neurofilament-H in serum as a diagnostic tool to predict injury severity in patients who have suffered mild traumatic brain injury. (25192482)
2014
5
Tracheomalacia/Tracheobronchomalacia and hyperdynamic airway collapse. (23337062)
2013
6
Rhodiola crenulata Extract Alleviates Hypoxic Pulmonary Edema in Rats. (23710233)
2013
7
Leukemia cutis presenting clinically as disseminated herpes zoster in a patient with unrecognized acute promyelocytic leukemia. (22708008)
2012
8
Blockade of NFI_B activity by Sunitinib increases cell death in Bortezomib-treated endometrial carcinoma cells. (22819259)
2012
9
A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II. (22196401)
2011
10
M129V PRNP gene polymorphism in Castilla y LeA^n shows a similar distribution to other Spanish regions and other European countries]. (20004419)
2010
11
Characterization of the 12q15 MDM2 and 12q13-14 CDK4 amplicons and clinical correlations in osteosarcoma. (20196171)
2010
12
Merkel cell carcinoma: recent progress and current priorities on etiology, pathogenesis, and clinical management. (19597021)
2009
13
Real object use facilitates object recognition in semantic agnosia. (19274572)
2009
14
Immunopathology in ocular toxoplasmosis: facts and clues. (19430646)
2009
15
Progesterone neuroprotection in traumatic CNS injury and motoneuron degeneration. (19318112)
2009
16
A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13. (18443791)
2008
17
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (18231121)
2008
18
Tuberous sclerosis in childhood]. (19061596)
2008
19
Bim(L) displacing Bcl-x(L) promotes Bax translocation during TNFalpha-induced apoptosis. (18500555)
2008
20
The interplay between size, morphology, stability, and functionality of high-density lipoprotein subclasses. (18366184)
2008
21
The international normalized ratio calibrated for cirrhosis (INR(liver)) normalizes prothrombin time results for model for end-stage liver disease calculation. (17659574)
2007
22
Blood cytokine levels as a clinical laboratory test]. (17441472)
2007
23
Pilot trial of etanercept in the treatment of inclusion-body myositis. (16432140)
2006
24
Inflammatory reaction in acute retinal artery occlusion: cytokine levels in aqueous humor and serum. (16159722)
2005
25
Large dose ketamine inhibits lipopolysaccharide-induced acute lung injury in rats. (15883747)
2005
26
Activation of the GLI oncogene through fusion with the beta-actin gene (ACTB) in a group of distinctive pericytic neoplasms: pericytoma with t(7;12). (15111311)
2004
27
Strategies combining total and percent free prostate specific antigen for detecting prostate cancer: a prospective evaluation. (11992051)
2002
28
Ethnicity and peripheral vascular disease. (12469976)
2002
29
Complex 5' genomic structure of the human prolactin receptor: multiple alternative exons 1 and promoter utilization. (12021177)
2002
30
Non-thyphoidal salmonellosis in patients with systemic lupus erythematosus. A study of fifty patients and a review of the literature. (11237131)
2001
31
Biological dynamics of viral load in hemodialysis patients with hepatitis C virus. (10620553)
2000
32
A comparison of the binding characteristics of class I antiarrhythmic agents for human muscarinic m1-m3 receptors. (10413067)
1999
33
Prevalence and ethnic differences in gallbladder disease in the United States. (10464139)
1999
34
Heterotrimeric G-proteins and development. (8960056)
1997
35
Proliferating cell nuclear antigen (PCNA) as a marker of dysplasia in oral mucosa. (8986050)
1996

Variations for Liddle Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1SCNN1Bp.Pro616LeuVAR_007128
2SCNN1Bp.Pro616SerVAR_007129
3SCNN1Bp.Pro617SerVAR_026520
4SCNN1Bp.Pro618ArgVAR_026521
5SCNN1Bp.Tyr620HisVAR_026522

Clinvar genetic disease variations for Liddle Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SCNN1GNM_001039.3(SCNN1G): c.1718G> A (p.Trp573Ter)single nucleotide variantPathogenicrs137853342GRCh37Chr 16, 23226558: 23226558
2SCNN1BNM_000336.2(SCNN1B): c.1696C> T (p.Arg566Ter)single nucleotide variantPathogenicrs137852704GRCh37Chr 16, 23391895: 23391895
3SCNN1BNM_000336.2(SCNN1B): c.1847C> T (p.Pro616Leu)single nucleotide variantPathogenicrs387906402GRCh37Chr 16, 23392046: 23392046
4SCNN1BNM_000336.2(SCNN1B): c.1858T> C (p.Tyr620His)single nucleotide variantPathogenicrs137852707GRCh37Chr 16, 23392057: 23392057
5SCNN1BSCNN1B, 1-BP INS, 592CinsertionPathogenic
6SCNN1BSCNN1B, 32-BP DELdeletionPathogenic
7SCNN1BNM_000336.2(SCNN1B): c.1849C> T (p.Pro617Ser)single nucleotide variantPathogenicrs137852708GRCh37Chr 16, 23392048: 23392048
8SCNN1BNM_000336.2(SCNN1B): c.1847C> G (p.Pro616Arg)single nucleotide variantPathogenicrs387906402GRCh37Chr 16, 23392046: 23392046

Expression for genes affiliated with Liddle Syndrome

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Search GEO for disease gene expression data for Liddle Syndrome.

Pathways for genes affiliated with Liddle Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6SCNN1A, SCNN1B, SCNN1G
29.3CFTR, SCNN1A, SCNN1B, SCNN1G
3
Show member pathways
9.2CYP11B2, NR3C2, REN
4
Show member pathways
9.0CFTR, NEDD4, SCNN1A, SCNN1B, SCNN1G
59.0CFTR, NEDD4, SCNN1A, SCNN1B, SCNN1G
68.8NEDD4L, SCNN1A, SCNN1B, SCNN1G, WNK4
78.5HSD11B2, NEDD4L, NR3C2, SCNN1A, SCNN1B, SCNN1G
8
Show member pathways
8.0ASIC5, NEDD4L, SCNN1A, SCNN1B, SCNN1G, WNK4
9
Show member pathways
7.6ASIC5, CFTR, NEDD4L, SCNN1A, SCNN1B, SCNN1G

GO Terms for genes affiliated with Liddle Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:00347069.6SCNN1A, SCNN1B, SCNN1G

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of potassium ion transmembrane transporter activityGO:190101610.4NEDD4, NEDD4L
2response to stimulusGO:005089610.2SCNN1A, SCNN1G
3sodium ion homeostasisGO:005507810.2SCNN1A, SCNN1B, SCNN1G
4negative regulation of sodium ion transmembrane transporter activityGO:200065010.1NEDD4, NEDD4L
5excretionGO:000758810.0NEDD4L, SCNN1B, SCNN1G
6regulation of membrane potentialGO:00423919.9NEDD4, NEDD4L
7transmembrane transportGO:00550859.0CFTR, NEDD4L, SCNN1A, SCNN1B, SCNN1G
8transcription initiation from RNA polymerase II promoterGO:00063678.8NEDD4L, NR3C1, NR3C2

Sources for Liddle Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet