AME
MCID: APP001
MIFTS: 51

Apparent Mineralocorticoid Excess Syndrome (AME) malady

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

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

MalaCards: Apparent Mineralocorticoid Excess Syndrome, also known as apparent mineralocorticoid excess, is related to hypertension and chronic kidney failure. 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:47 218030

Aliases & Classifications for Apparent Mineralocorticoid Excess Syndrome

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8Disease Ontology, 10DISEASES, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

apparent mineralocorticoid excess syndrome 8 10
apparent mineralocorticoid excess 9 43 20 22 47 49
cortisol 11-beta-ketoreductase deficiency 43 62
11-beta-hydroxysteroid dehydrogenase deficiency type 2 49
syndrome of apparent mineralocorticoid excess 8
mineralocorticoid excess syndrome, apparent 62
ulick syndrome 49
ame 1 43
ame 43


External Ids:

Disease Ontology8 DOID:4367
MeSH35 D043204
OMIM47 218030
MESH via Orphanet36 C537422, D043204
SNOMED-CT58 237770005
ICD10 via Orphanet26 E26.1
SNOMED-CT via Orphanet59 237770005
UMLS via Orphanet63 C0342488, C2936861

Related Diseases for Apparent Mineralocorticoid Excess Syndrome

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17GeneCards, 18GeneDecks
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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 128)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.4NR3C2, HSD11B2, HSD11B1
2chronic kidney failure30.0HSD11B2, NR3C2
3acromegaly29.9HSD11B1, HSD11B2
4glaucoma29.9HSD11B1, HSD11B2
5osteoporosis29.8HSD11B2, HSD11B1
6hyperglycemia29.8HSD11B2, HSD11B1
7pre-eclampsia29.8NR3C2, HSD11B2
8obesity29.7NR3C2, HSD11B2, HSD11B1
9liddle syndrome10.4
10acute mountain sickness10.4
11glucocorticoid-remediable aldosteronism10.3
12nephrocalcinosis10.3
13prostatitis10.3
14congenital adrenal hyperplasia10.3
15pseudohypoaldosteronism10.3
16leukemia10.2
17cataract10.2
18dwarfism10.2
19aortic valve stenosis10.1
20myeloid leukemia10.1
21endotheliitis10.1
22adrenal adenoma10.0HSD11B2, HSD11B1
23cushing's syndrome10.0HSD11B2, HSD11B1
24rheumatic fever10.0
25dental pulp necrosis10.0
26ulcerative colitis10.0
27peyronie's disease10.0
28nasopharyngitis10.0
29dental fluorosis10.0
30cerebritis10.0
31eosinophilic esophagitis10.0
32familial hypercholesterolemia10.0
33right bundle branch block10.0
34arthritis10.0
35bursitis10.0
36childhood leukemia10.0
37corneal dystrophy10.0
38esophagitis10.0
39impotence10.0
40retinitis10.0
41turner syndrome10.0
42ablepharon macrostomia syndrome10.0
43barber say syndrome10.0
44hypercholesterolemia10.0
45fainting10.0
46hyperaldosteronism10.0HSD11B2, NR3C2
47hypokalemia10.0HSD11B2, NR3C2
48polycystic ovary syndrome10.0HSD11B1, NR3C2
49essential hypertension10.0NR3C2, HSD11B2
50diabetic nephropathy10.0NR3C2, HSD11B2

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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47OMIM
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Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

Drugs & Therapeutics for Apparent Mineralocorticoid Excess Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess Syndrome:

33
Kidney

Animal Models for Apparent Mineralocorticoid Excess Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5NR3C2, HSD11B2, HSD11B1

Publications for Apparent Mineralocorticoid Excess Syndrome

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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1 (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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 51PharmGKB
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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 Metabolism38
8.6HSD11B2, HSD17B6, HSD11B1

Compounds for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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45Novoseek, 29IUPHAR, 51PharmGKB, 24HMDB, 11DrugBank, 61Tocris Bioscience, 3BitterDB
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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-hydroxyprogesterone459.7HSD11B2, NR3C2
2doca459.7NR3C2, HSD11B2
3hydrochlorothiazide45 29 51 24 1113.6NR3C2, HSD11B2
4spironolactone45 61 29 51 1113.6NR3C2, HSD11B2
5fluticasone propionate45 51 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 acetate45 1110.5HSD11B2, HSD11B1
11hydroxysteroid459.5HSD11B2, HSD11B1
12nadp+459.4HSD11B2, HSD11B1
13metyrapone45 61 1111.4NR3C2, HSD11B1
14androstenedione45 2410.2HSD11B2, HSD11B1
15triiodothyronine459.2NR3C2, HSD11B1
16dihydrotestosterone45 29 24 1112.2NR3C2, HSD11B2, HSD17B6
17prostaglandin459.1HSD11B2, HSD11B1
18nicotine45 29 51 1112.0NR3C2, HSD11B2
19NADP249.0HSD11B2, HSD11B1
20allotetrahydrocortisol459.0NR3C2, HSD11B2, HSD11B1
21tetrahydrocortisol45 2410.0HSD11B1, HSD11B2, NR3C2
22nad29 2410.0HSD11B2, HSD17B6, HSD11B1
23tetrahydrocortisone45 2410.0HSD11B1, HSD11B2, NR3C2
2411-dehydrocorticosterone45 2410.0HSD11B1, HSD11B2, NR3C2
25cortisol29 2410.0NR3C2, HSD11B2, HSD11B1
26glycyrrhetinic acid45 2410.0HSD11B1, HSD11B2, NR3C2
27glycyrrhizin45 299.9NR3C2, HSD11B2, HSD11B1
28cortisone45 249.9NR3C2, HSD11B2, HSD11B1
29carbenoxolone45 29 1110.9HSD11B1, HSD11B2, NR3C2
3011beta-hydroxysteroid458.9HSD11B1, HSD11B2, NR3C2
313beta-hydroxysteroid458.9HSD11B1, HSD11B2, NR3C2
32dhea458.9NR3C2, HSD11B2, HSD11B1
33corticosterone45 61 2410.9NR3C2, HSD11B2, HSD11B1
34nad+458.9NR3C2, HSD11B2, HSD11B1
35mifepristone45 29 61 1111.9HSD11B1, HSD11B2, NR3C2
36prednisolone45 29 1110.9HSD11B1, HSD11B2, NR3C2
37hydrocortisone45 3 61 1111.9NR3C2, HSD11B2, HSD11B1
38acth458.9HSD11B1, HSD11B2, NR3C2
39ribonucleic acid458.9HSD11B1, HSD11B2, NR3C2
40nadph45 249.8HSD11B1, HSD11B2, NR3C2
41sodium45 249.8HSD11B1, HSD11B2, NR3C2
42progesterone45 29 61 24 1112.8NR3C2, HSD11B2, HSD11B1
43testosterone45 61 24 1111.7HSD11B1, HSD17B6, NR3C2
44cholesterol45 29 24 1111.7NR3C2, HSD11B2, HSD11B1
45steroid458.7NR3C2, HSD11B2, HSD11B1
46dexamethasone45 51 29 1111.7HSD11B1, HSD11B2, NR3C2
47estrogen458.6NR3C2, HSD11B2, HSD11B1
48glucose458.5HSD11B1, HSD11B2, NR3C2
49nadh45 24 1110.4NR3C2, HSD11B2, HSD17B6, HSD11B1
50estradiol45 24 1110.4NR3C2, HSD11B2, HSD17B6, HSD11B1

GO Terms for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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16Gene Ontology
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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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Sources for Apparent Mineralocorticoid Excess Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet