AME
MCID: APP001
MIFTS: 51

Apparent Mineralocorticoid Excess Syndrome (AME) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Metabolic diseases categories
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Summaries for Apparent Mineralocorticoid Excess Syndrome

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Wikipedia:65 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

MalaCards based summary: Apparent Mineralocorticoid Excess Syndrome, also known as apparent mineralocorticoid excess, is related to liddle syndrome and hypertension, and has symptoms including An important gene associated with Apparent Mineralocorticoid Excess Syndrome is HSD11B2 (hydroxysteroid (11-beta) dehydrogenase 2), and among its related pathways are Aldosterone-regulated sodium reabsorption and Prostaglandin Synthesis and Regulation. The compounds 11alpha-hydroxyprogesterone and doca have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotype muscle.

Description from OMIM:46 218030

Aliases & Classifications for Apparent Mineralocorticoid Excess Syndrome

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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Apparent Mineralocorticoid Excess Syndrome, Aliases & Descriptions:

Name: Apparent Mineralocorticoid Excess Syndrome 8 10
Apparent Mineralocorticoid Excess 9 42 20 22 46 48
Syndrome of Apparent Mineralocorticoid Excess 8 62
Cortisol 11-Beta-Ketoreductase Deficiency 42 62
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 48
 
Mineralocorticoid Excess Syndrome, Apparent 62
Ulick Syndrome 48
Ame 1 42
Ame 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

Disease Ontology8 DOID:4367
MeSH34 D043204
OMIM46 218030
SNOMED-CT57 237770005
MESH via Orphanet35 C537422, D043204
ICD10 via Orphanet26 E26.1
UMLS via Orphanet63 C0342488, C2936861

Related Diseases for Apparent Mineralocorticoid Excess Syndrome

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

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1liddle syndrome30.7HSD11B2, NR3C2
2hypertension30.2HSD11B1, HSD11B2, NR3C2
3colitis30.2HSD11B1, HSD11B2
4acromegaly30.0HSD11B1, HSD11B2
5osteoporosis29.9HSD11B2, HSD11B1
6hyperglycemia29.9HSD11B1, HSD11B2
7chronic kidney failure29.9NR3C2, HSD11B2
8pre-eclampsia29.7NR3C2, HSD11B2
9obesity29.5HSD11B1, NR3C2, HSD11B2
10acute mountain sickness10.4
11glucocorticoid-remediable aldosteronism10.4
12nephrocalcinosis10.3
13prostatitis10.3
14pseudohypoaldosteronism10.3
15congenital adrenal hyperplasia10.3
16leukemia10.2
17cataract10.2
18dwarfism10.2
19adrenal adenoma10.2HSD11B1, HSD11B2
20cushing's syndrome10.1HSD11B2, HSD11B1
21aortic valve stenosis10.1
22myeloid leukemia10.1
23ablepharon macrostomia syndrome10.1
24endotheliitis10.1
25peyronie's disease10.0
26arthritis10.0
27familial hypercholesterolemia10.0
28ulcerative colitis10.0
29rheumatic fever10.0
30dental fluorosis10.0
31eosinophilic esophagitis10.0
32right bundle branch block10.0
33dental pulp necrosis10.0
34nasopharyngitis10.0
35cerebritis10.0
36bursitis10.0
37childhood leukemia10.0
38corneal dystrophy10.0
39esophagitis10.0
40impotence10.0
41melanoma10.0
42retinitis10.0
43thyroiditis10.0
44turner syndrome10.0
45atypical mole syndrome10.0
46barber say syndrome10.0
47hypercholesterolemia10.0
48fainting10.0
49hyperaldosteronism10.0HSD11B2, NR3C2
50hypokalemia10.0HSD11B2, NR3C2

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess Syndrome:



Diseases related to apparent mineralocorticoid excess syndrome

Symptoms for Apparent Mineralocorticoid Excess Syndrome

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Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

HPO human phenotypes related to Apparent Mineralocorticoid Excess Syndrome:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypertension HP:0000822
3 hypertensive retinopathy HP:0001095
4 failure to thrive HP:0001508
5 small for gestational age HP:0001518
6 hypokalemia HP:0002900
7 decreased circulating aldosterone level HP:0002924
8 decreased circulating renin level HP:0003351
9 variable expressivity HP:0003828
10 hypoaldosteronism HP:0004319
11 short stature HP:0004322
12 metabolic alkalosis HP:0200114

Drugs & Therapeutics for Apparent Mineralocorticoid Excess Syndrome

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Drug clinical trials:

Search ClinicalTrials for Apparent Mineralocorticoid Excess Syndrome

Search NIH Clinical Center for Apparent Mineralocorticoid Excess Syndrome

Genetic Tests for Apparent Mineralocorticoid Excess Syndrome

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Genetic tests related to Apparent Mineralocorticoid Excess Syndrome:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess Syndrome20 HSD11B2
2 Apparent Mineralocorticoid Excess22

Anatomical Context for Apparent Mineralocorticoid Excess Syndrome

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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess Syndrome:

32
Kidney

Animal Models for Apparent Mineralocorticoid Excess Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5NR3C2, HSD11B2, HSD11B1

Publications for Apparent Mineralocorticoid Excess Syndrome

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Articles related to Apparent Mineralocorticoid Excess Syndrome:

idTitleAuthorsYear
1
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. (23329753)
2012
2
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. (19169481)
2008
3
From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. (17447595)
2007
4
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. (15134813)
2004
5
Apparent mineralocorticoid excess syndrome: an overview. (15761540)
2004
6
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. (11227727)
2001
7
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. (11095013)
2000
8
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? (11005270)
2000

Variations for Apparent Mineralocorticoid Excess Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess Syndrome:

64 (show all 14)
id Symbol AA change Variation ID SNP ID
1HSD11B2p.Arg208CysVAR_006958
2HSD11B2p.Arg213CysVAR_006959
3HSD11B2p.Leu179ArgVAR_015635
4HSD11B2p.Ser180PheVAR_015636
5HSD11B2p.Arg186CysVAR_015637
6HSD11B2p.Arg208HisVAR_015638
7HSD11B2p.Ala237ValVAR_015640
8HSD11B2p.Asp244AsnVAR_015641
9HSD11B2p.Leu250ArgVAR_015642
10HSD11B2p.Arg279CysVAR_015644
11HSD11B2p.Ala328ValVAR_015645
12HSD11B2p.Tyr338HisVAR_015646
13HSD11B2p.Asp223AsnVAR_066514
14HSD11B2p.Arg337CysVAR_066515

Clinvar genetic disease variations for Apparent Mineralocorticoid Excess Syndrome:

6 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1HSD11B2NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs121917780GRCh37Chr 16, 67470003: 67470003
2HSD11B2NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys)single nucleotide variantPathogenicrs28934591GRCh37Chr 16, 67470018: 67470018
3HSD11B2NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys)single nucleotide variantPathogenicrs121917781GRCh37Chr 16, 67470697: 67470697
4HSD11B2NM_000196.3(HSD11B2): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs28934592GRCh37Chr 16, 67470004: 67470004
5HSD11B2NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis)deletionPathogenicrs397509434GRCh37Chr 16, 67470698: 67470700
6HSD11B2NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys)single nucleotide variantPathogenicrs28934594GRCh37Chr 16, 67470523: 67470523
7HSD11B2NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn)single nucleotide variantPathogenicrs121917833GRCh37Chr 16, 67470154: 67470154
8HSD11B2HSD11B2, TYR299DELdeletionPathogenic
9HSD11B2HSD11B2, IVS3, C-T, +14single nucleotide variantPathogenic
10HSD11B2NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His)single nucleotide variantPathogenicrs387907117GRCh37Chr 16, 67470700: 67470700
11HSD11B2HSD11B2, 2-BP DELdeletionPathogenic

Expression for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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Expression patterns in normal tissues for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess Syndrome.

Pathways for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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Pathways related to Apparent Mineralocorticoid Excess Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NR3C2, HSD11B2
29.1HSD11B2, HSD11B1
3
Show member pathways
9.1HSD17B6, HSD11B1
4
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
8.6HSD11B2, HSD17B6, HSD11B1

Compounds for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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Compounds related to Apparent Mineralocorticoid Excess Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
111alpha-hydroxyprogesterone449.7HSD11B2, NR3C2
2doca449.7NR3C2, HSD11B2
3hydrochlorothiazide44 28 50 24 1113.6NR3C2, HSD11B2
4spironolactone44 61 28 50 1113.6NR3C2, HSD11B2
5fluticasone propionate44 50 61 1112.6NR3C2, HSD11B2
6Adrenosterone249.6HSD11B1, HSD11B2
7Tetrahydrocorticosterone249.5HSD11B1, HSD11B2
83a,21-Dihydroxy-5b-pregnane-11,20-dione249.5HSD11B1, HSD11B2
911b-Hydroxyandrost-4-ene-3,17-dione249.5HSD11B2, HSD11B1
10cortisone acetate44 1110.5HSD11B2, HSD11B1
11hydroxysteroid449.5HSD11B2, HSD11B1
12nadp+449.4HSD11B2, HSD11B1
13metyrapone44 61 1111.4NR3C2, HSD11B1
14androstenedione44 2410.2HSD11B2, HSD11B1
15triiodothyronine449.2NR3C2, HSD11B1
16dihydrotestosterone44 28 24 1112.2NR3C2, HSD11B2, HSD17B6
17prostaglandin449.1HSD11B2, HSD11B1
18nicotine44 28 50 1112.0NR3C2, HSD11B2
19NADP249.0HSD11B2, HSD11B1
20allotetrahydrocortisol449.0NR3C2, HSD11B2, HSD11B1
21tetrahydrocortisol44 2410.0HSD11B1, HSD11B2, NR3C2
22nad28 2410.0HSD11B2, HSD17B6, HSD11B1
23tetrahydrocortisone44 2410.0HSD11B1, HSD11B2, NR3C2
2411-dehydrocorticosterone44 2410.0HSD11B1, HSD11B2, NR3C2
25cortisol28 2410.0NR3C2, HSD11B2, HSD11B1
26glycyrrhetinic acid44 2410.0HSD11B1, HSD11B2, NR3C2
27glycyrrhizin44 289.9NR3C2, HSD11B2, HSD11B1
28cortisone44 249.9NR3C2, HSD11B2, HSD11B1
29carbenoxolone44 28 1110.9HSD11B1, HSD11B2, NR3C2
3011beta-hydroxysteroid448.9HSD11B1, HSD11B2, NR3C2
313beta-hydroxysteroid448.9HSD11B1, HSD11B2, NR3C2
32dhea448.9NR3C2, HSD11B2, HSD11B1
33corticosterone44 61 2410.9NR3C2, HSD11B2, HSD11B1
34nad+448.9NR3C2, HSD11B2, HSD11B1
35mifepristone44 28 61 1111.9HSD11B1, HSD11B2, NR3C2
36prednisolone44 28 1110.9HSD11B1, HSD11B2, NR3C2
37hydrocortisone44 2 61 1111.9NR3C2, HSD11B2, HSD11B1
38acth448.9HSD11B1, HSD11B2, NR3C2
39ribonucleic acid448.9HSD11B1, HSD11B2, NR3C2
40nadph44 249.8HSD11B1, HSD11B2, NR3C2
41sodium44 249.8HSD11B1, HSD11B2, NR3C2
42progesterone44 28 61 24 1112.8NR3C2, HSD11B2, HSD11B1
43testosterone44 61 24 1111.7HSD11B1, HSD17B6, NR3C2
44cholesterol44 28 24 1111.7NR3C2, HSD11B2, HSD11B1
45steroid448.7NR3C2, HSD11B2, HSD11B1
46dexamethasone44 50 28 1111.7HSD11B1, HSD11B2, NR3C2
47estrogen448.6NR3C2, HSD11B2, HSD11B1
48glucose448.5HSD11B1, HSD11B2, NR3C2
49nadh44 24 1110.4NR3C2, HSD11B2, HSD17B6, HSD11B1
50estradiol44 24 1110.4NR3C2, HSD11B2, HSD17B6, HSD11B1

GO Terms for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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Biological processes related to Apparent Mineralocorticoid Excess Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:0067049.1HSD11B2, HSD11B1

Molecular functions related to Apparent Mineralocorticoid Excess Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid bindingGO:0054969.3NR3C2, HSD11B2
211-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:0038458.8HSD11B2, HSD11B1

Products for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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  • Antibodies
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Sources for Apparent Mineralocorticoid Excess Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet