MCID: LDD002
MIFTS: 52

Liddle Syndrome malady

Cardiovascular, Nephrological categories

Summaries for Liddle Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Liddle Syndrome, also known as pseudoaldosteronism, is related to apparent mineralocorticoid excess syndrome and pseudohypoaldosteronism, and has symptoms including constipation, autosomal dominant inheritance and chronic arterial hypertension. An important gene associated with Liddle Syndrome is SCNN1B (sodium channel, non-voltage-gated 1, beta subunit), and among its related pathways are Mineralocorticoid biosynthesis and Class C/3 (Metabotropic glutamate/pheromone receptors). The compounds 11alpha-hydroxyprogesterone and potassium canrenoate have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and heart, and related mouse phenotypes are respiratory system and normal.

Genetics Home Reference:21 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.

Description from OMIM:47 177200

Aliases & Classifications for Liddle Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 35MeSH, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular, Nephrological


Characteristics (Orphanet epidemiological data):

49
liddle syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

liddle syndrome 8 9 43 21 47 10 49 61
pseudoaldosteronism 8 43 21 49
pseudoprimary hyperaldosteronism 21
pseudohyperaldosteronism type 1 49
liddle's syndrome 43


External Ids:

Disease Ontology8 DOID:0050477
MeSH35 D056929
OMIM47 177200
ICD10 via Orphanet26 I15.1
SNOMED-CT via Orphanet58 71275003
UMLS via Orphanet62 C0221043
MESH via Orphanet36 D056929

Related Diseases for Liddle Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1apparent mineralocorticoid excess syndrome30.3HSD11B2, NR3C2
2pseudohypoaldosteronism30.0ASIC5, CFTR, WNK4, REN, NR3C2, NEDD4
3hypokalemia30.0HSD11B2, NR3C2, NR3C1, CYP11B2, REN
4n syndrome10.4
5twin twin transfusion syndrome10.3
6liddle syndrome, scnn1b-related10.2
7liddle syndrome, scnn1g-related10.2
8down syndrome10.1
9kid syndrome10.1
10hypophosphatemia10.0
11gitelman syndrome10.0
12bronchiectasis with or without elevated sweat chloride 110.0SCNN1B
13bronchiectasis10.0CFTR
14cholera10.0CFTR
15pseudohypoaldosteronism type ii10.0WNK4
16atherosclerosis10.0NR3C2
17nephrotic syndrome10.0NR3C1
18autosomal recessive pseudohypoaldosteronism type 110.0SCNN1A, SCNN1B
19cystic fibrosis10.0ASIC5, CFTR
20hypoaldosteronism10.0REN, CYP11B2
21pseudohypoaldosteronism type 110.0SCNN1B, SCNN1A, SCNN1G
22polycystic ovary syndrome10.0NR3C2
23sinusitis10.0CFTR
24respiratory failure10.0CFTR
25addison's disease10.0REN, CYP11B2
26low renin hypertension10.0REN, CYP11B2, HSD11B2
27pure autonomic failure10.0NEDD4L, REN
28adrenal adenoma10.0HSD11B2, CYP11B2, REN
29ocular hypertension10.0NR3C1
30conn's syndrome10.0NR3C2, CYP11B2, REN
31congenital adrenal hyperplasia10.0NR3C1, CYP11B2, REN
32congestive heart failure10.0REN, CYP11B2, NR3C2
33hyperaldosteronism10.0HSD11B2, NR3C2, CYP11B2, REN
34cushing's syndrome10.0REN, CYP11B2, NR3C1, HSD11B2
35metabolic acidosis10.0SCNN1G, NR3C2, REN, WNK4
36glucocorticoid-remediable aldosteronism10.0NR3C2, NR3C1, CYP11B2, REN
37adrenal gland hyperfunction10.0NR3C1, NR3C2
38primary hyperoxaluria10.0SCNN1B, NR3C2, NR3C1, REN
39chronic kidney failure10.0REN, CYP11B2, NR3C2, HSD11B2
40congenital heart defect10.0NR3C2, CYP11B2, REN, CFTR
41leukemia10.0ASIC5, CFTR, NR3C1, NR3C2
42hypertrophy of breast10.0NR3C2, CYP11B2, REN, CFTR
43pre-eclampsia10.0REN, CYP11B2, NR3C1, NR3C2, HSD11B2
44osteoporosis10.0HSD11B2, NR3C1, CFTR
45adenoma10.0REN, CYP11B2, NR3C2, HSD11B2
46proteinuria10.0HSD11B2, NR3C2, NR3C1, CYP11B2, REN, CFTR
47diabetic nephropathy10.0HSD11B2, NR3C2, REN
48essential hypertension10.0HSD11B2, NEDD4L, NR3C2, NR3C1, CYP11B2, REN
49hypertension10.0HSD11B2, SCNN1B, SCNN1A, SCNN1G, NEDD4L, NR3C2

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



Diseases related to liddle syndrome

Clinical Features for Liddle Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

177200

Clinical synopsis from OMIM:

177200

Symptoms:

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

Drugs & Therapeutics for Liddle Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Liddle Syndrome

Drug clinical trials:

Search ClinicalTrials for Liddle Syndrome

Search NIH Clinical Center for Liddle Syndrome

Search CenterWatch for Liddle Syndrome

Genetic Tests for Liddle Syndrome

Anatomical Context for Liddle Syndrome

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Liddle Syndrome:

33
Brain, Kidney, Heart, Colon

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Liddle Syndrome

Sources:
51PubMed
See all sources

Articles related to Liddle Syndrome:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
A case of Liddle Syndrome. (23307437)
2013
2
Liddle syndrome in a Serbian family and literature review of underlying mutations. (21956615)
2012
3
Salt-induced hypertension in a mouse model of Liddle syndrome is mediated by epithelial sodium channels in the brain. (22802227)
2012
4
A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome. (21525970)
2011
5
Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G in Chinese]. (20376790)
2010
6
High prevalence of liddle syndrome phenotype among hypertensive US Veterans in Northwest Louisiana. (21054772)
2010
7
A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome. (19344079)
2009
8
Role of the UPS in Liddle syndrome. (19007435)
2008
9
Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit. (18398334)
2008
10
Aldosterone responsiveness of the epithelial sodium channel (ENaC) in colon is increased in a mouse model for Liddle's syndrome. (18006588)
2008
11
The PY motif of ENaC, mutated in Liddle syndrome, regulates channel internalization, sorting and mobilization from subapical pool. (17605762)
2007
12
A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. (17634077)
2007
13
Mutation analysis of SCNN1B in a family with Liddle's syndrome. (16943574)
2006
14
Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage. (16477034)
2006
15
Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit. (15856328)
2005
16
A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. (15690192)
2005
17
Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. (15483078)
2005
18
Distinction between Liddle syndrome and apparent mineralocorticoid excess. (14625721)
2004
19
Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome. (12937297)
2003
20
The distinction between Liddle syndrome and apparent mineralocorticoid excess. (12759812)
2003
21
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. (12473862)
2002
22
Liddle syndrome in a newborn infant. (12185466)
2002
23
A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome. (12473861)
2002
24
Liddle syndrome: genetics and mechanisms of Na+ channel defects. (11780687)
2001
25
A study of mutation(s) of the epithelial sodium channel gene in a Liddle's syndrome family]. (11798604)
2001
26
Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. (11014928)
2000
27
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
28
Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome. (10074483)
1999
29
Inhibition of the epithelial Na+ channel by interaction of Nedd4 with a PY motif deleted in Liddle's syndrome. (9792722)
1998
30
The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. (9643296)
1998
31
A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. (9626162)
1998
32
Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. (9637708)
1998
33
Genetic analysis of the epithelial sodium channel in Liddle's syndrome. (9794716)
1998
34
Liddle syndrome: an autosomal dominant form of human hypertension. (9452995)
1998
35
Liddle's syndrome: a 14-year follow-up of the youngest diagnosed case. (9035163)
1997
36
Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. (9350583)
1997
37
WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome. (8665844)
1996
38
The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. (8987044)
1996
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
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
Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel. (8521520)
1995
44
Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. (7954808)
1994
45
Liddle syndrome: clinical and cellular abnormalities. (8027210)
1994
46
Clinical quiz. Liddle's syndrome, triamterene crystallization, nephrocalcinosis, chronic renal failure and growth retardation. (2088473)
1990
47
Liddle's syndrome, an uncommon form of hyporeninemic hypoaldosteronism: functional and histopathological studies. (3550146)
1987
48
Hypertension, hypokalemia and hypoaldosteronism with suppressed renin: a clinical study of a patient with Liddle's syndrome. (6273144)
1981
49
Liddle syndrome: sodium influx into RBC. (7365623)
1980
50
Liddle syndrome. (480019)
1979

Genetic Variations for Liddle Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Liddle Syndrome:

63
id Symbol AA change Variation SNP ID
1SCNN1Bp.Pro616LeuVAR_007128
2SCNN1Bp.Pro616SerVAR_007129
3SCNN1Bp.Pro617SerVAR_026520
4SCNN1Bp.Pro618ArgVAR_026521
5SCNN1Bp.Tyr620HisVAR_026522

Expression for genes affiliated with Liddle Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Liddle Syndrome

Search GEO for disease gene expression data for Liddle Syndrome.

Pathways for genes affiliated with Liddle Syndrome

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 50PharmGKB, 52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology
See all sources

Pathways related to Liddle Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1CYP11B2, HSD11B2
2
Hide members
10.0SCNN1G, SCNN1A, SCNN1B
3
Hide members
9.9REN, CYP11B2, NR3C2
4
Hide members
9.8NEDD4, WWP1
5
Hide members
9.7SCNN1B, SCNN1D, SCNN1A, SCNN1G
69.7SCNN1B, SCNN1D, SCNN1A, SCNN1G
79.6SCNN1B, SCNN1A, SCNN1G, NEDD4L, WNK4
89.6UBE2S, NEDD4, NEDD4L, REN
9
NO-dependent CFTR activation (normal and CF)
9.5SCNN1B, SCNN1D, SCNN1A, SCNN1G, CFTR
109.4HSD11B2, SCNN1B, SCNN1A, SCNN1G, NEDD4L, NR3C2
11
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
9.3CFTR, NEDD4, SCNN1G, SCNN1A, SCNN1D, SCNN1B
12
Hide members
9.3SCNN1B, SCNN1D, SCNN1A, SCNN1G, NEDD4, CFTR
13
Hide members
8.9WWP1, SCNN1B, SCNN1D, SCNN1A, SCNN1G, NEDD4L
14
Hide members
8.8HERC5, UBE2E3, UBE2S, WWP1, NEDD4, NEDD4L
15
Hide members
8.7WWP1, SCNN1B, SCNN1D, SCNN1A, SCNN1G, NEDD4L
16
Hide members
8.7UBE2E3, UBE2S, WWP1, NEDD4, NEDD4L, SEC24D

Compounds for genes affiliated with Liddle Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Liddle Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 65)
idCompoundScoreTop Affiliating Genes
111alpha-hydroxyprogesterone4510.4HSD11B2, NR3C2
2potassium canrenoate4510.4NR3C2, NR3C1
3allotetrahydrocortisol4510.4NR3C2, HSD11B2
4tetrahydroaldosterone4510.3NR3C2, CYP11B2, REN
5cortisone acetate45 1111.3HSD11B2, NR3C1
618-hydroxycorticosterone45 2411.3CYP11B2, REN
7zk11299345 2911.3NR3C1, NR3C2
811-dehydrocorticosterone45 2411.3HSD11B2, NR3C2, NR3C1
9deoxycorticosterone29 2411.3CYP11B2, NR3C1, NR3C2
10tetrahydrocortisone45 2411.3HSD11B2, NR3C2
11aldosterone29 11 2412.3NR3C2, NR3C1, CYP11B2
12felodipine45 29 1112.2CFTR, REN, NR3C2
13tetrahydrocortisol45 2411.2HSD11B2, NR3C2
14metyrapone60 45 1112.2NR3C2, NR3C1, CYP11B2
15triamcinolone acetonide45 2911.2CFTR, NR3C1, NR3C2
16fluticasone propionate45 50 60 1113.2NR3C1, NR3C2, HSD11B2
17cortisol29 2411.2HSD11B2, NR3C2, NR3C1, CYP11B2
18ang ii4510.2NR3C2, CYP11B2, REN
19glycyrrhetinic acid45 2411.2HSD11B2, NR3C2, NR3C1, REN
20fludrocortisone45 29 1112.1NR3C2, NR3C1, CYP11B2, REN
21glycyrrhizin45 2911.1REN, NR3C1, NR3C2, HSD11B2
22eplerenone45 60 29 1113.1NR3C2, NR3C1, CYP11B2, REN
2311 deoxycortisol4510.1NR3C2, NR3C1, CYP11B2, REN
24cortisone45 2411.1HSD11B2, NR3C2, NR3C1, CYP11B2
25carbenoxolone29 45 1112.1REN, NR3C1, NR3C2, HSD11B2
26thiazide4510.1WNK4, REN, NR3C2, SCNN1A
27dhea4510.1HSD11B2, NR3C2, NR3C1, CYP11B2
283beta-hydroxysteroid4510.0CYP11B2, NR3C2, HSD11B2
29hydrochlorothiazide45 50 29 11 2414.0HSD11B2, NEDD4L, NR3C2, CYP11B2, REN
30doca4510.0REN, CYP11B2, NR3C1, NR3C2, HSD11B2
31spironolactone50 45 60 29 1114.0HSD11B2, NR3C2, NR3C1, CYP11B2, REN
32triamterene45 11 2412.0SCNN1B, SCNN1D, SCNN1A, SCNN1G, NR3C2
3311beta-hydroxysteroid4510.0HSD11B2, NR3C2, NR3C1, CYP11B2, REN
34corticosterone45 60 2412.0HSD11B2, NR3C2, NR3C1, CYP11B2, REN
35hydrocortisone45 2 60 1112.9HSD11B2, NR3C2, NR3C1, CYP11B2, REN
36acth459.9HSD11B2, NR3C2, NR3C1, CYP11B2, REN
37losartan45 50 29 1112.9REN, CYP11B2, NR3C2
38norepinephrine45 11 2411.9HSD11B2, NR3C2, CYP11B2, REN, CFTR
39nacl459.9ASIC5, WNK4, REN, NR3C2, SCNN1A
40actinomycin d459.8HSD11B2, SCNN1A, NR3C2, NR3C1, CFTR
41potassium45 11 2411.8HSD11B2, NR3C2, CYP11B2, REN, WNK4
42drospirenone45 50 29 1112.8REN, NR3C2
43chloride459.7NR3C2, REN, WNK4, CFTR
44dexamethasone45 50 29 1112.6HSD11B2, SCNN1A, NR3C2, NR3C1, CYP11B2, REN
45dopamine45 29 11 2412.5NR3C2, NR3C1, REN, CFTR, ASIC5
46steroid459.5HSD11B2, UBE2E3, NR3C2, NR3C1, CYP11B2, REN
47amiloride45 29 1111.4ASIC5, CFTR, REN, NR3C2, SCNN1G, SCNN1A
48Adenosine monophosphate11 2410.3UBE2E3, UBE2S, NEDD4, NEDD4L
49cysteine459.3HSD11B2, UBE2E3, SCNN1G, NEDD4, NEDD4L, NR3C2
50sodium45 248.7ASIC5, UBE2E3, HSD11B2, WWP1, SCNN1B, CFTR

GO Terms for genes affiliated with Liddle Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Liddle Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:0347069.9SCNN1G, SCNN1A, SCNN1B
2apical plasma membraneGO:0163249.5SCNN1B, SCNN1A, SCNN1G, CFTR
3plasma membraneGO:0058868.3SCNN1B, SCNN1D, SCNN1A, SCNN1G, NEDD4, NEDD4L

Biological processes related to Liddle Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood volume by renal aldosteroneGO:00201710.3CYP11B2, HSD11B2
2distal tubule morphogenesisGO:07215610.2WNK4, KLHL3
3ion homeostasisGO:05080110.1WNK4, KLHL3
4renal sodium ion absorptionGO:07029410.1WNK4, KLHL3
5excretionGO:00758810.1SCNN1B, SCNN1A, SCNN1G, NEDD4L
6regulation of ion transmembrane transportGO:03476510.0NEDD4L, NEDD4
7sensory perception of tasteGO:05090910.0SCNN1G, SCNN1A, SCNN1D, SCNN1B
8response to stimulusGO:05089610.0SCNN1G, SCNN1A, SCNN1D, SCNN1B
9regulation of potassium ion transmembrane transporter activityGO:19010169.9NEDD4, NEDD4L
10protein K48-linked ubiquitinationGO:0709369.9KLHL3, UBE2E3, NEDD4L
11protein K63-linked ubiquitinationGO:0705349.8UBE2E3, UBE2S, NEDD4
12sodium ion transportGO:0068149.8SCNN1B, SCNN1D, SCNN1A, SCNN1G, NEDD4L
13ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathwayGO:0431629.7NEDD4L, NEDD4
14protein ubiquitination involved in ubiquitin-dependent protein catabolic processGO:0427879.4KLHL3, HERC5, WWP1, NEDD4, NEDD4L
15protein ubiquitinationGO:0165679.4NEDD4L, NEDD4, WWP1, KLHL3
16ion transmembrane transportGO:0342209.3ASIC5, NEDD4L, SCNN1G, SCNN1A, SCNN1D, SCNN1B
17transmembrane transportGO:0550859.0WWP1, SCNN1B, SCNN1D, SCNN1A, SCNN1G, NEDD4L

Molecular functions related to Liddle Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1WW domain bindingGO:05069910.0SCNN1G, SCNN1A, SCNN1B
2steroid bindingGO:0054969.8HSD11B2, NR3C2, NR3C1
3sodium channel inhibitor activityGO:0198719.7NEDD4L, NEDD4
4ligand-gated sodium channel activityGO:0152809.6ASIC5, SCNN1G, SCNN1A, SCNN1D, SCNN1B
5ubiquitin-protein ligase activityGO:0048428.8HERC5, UBE2E3, UBE2S, WWP1, NEDD4, NEDD4L
6protein bindingGO:0055157.6HERC5, WWP1, SCNN1B, SCNN1D, SCNN1A, SCNN1G

Products for genes affiliated with Liddle Syndrome

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Sources for Liddle Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet