AME
MCID: APP001
MIFTS: 51

Apparent Mineralocorticoid Excess Syndrome (AME) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases categories

Summaries for Apparent Mineralocorticoid Excess Syndrome

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 218030

Aliases & Classifications for Apparent Mineralocorticoid Excess Syndrome

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9Disease Ontology, 11DISEASES, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 9 11
apparent mineralocorticoid excess 10 44 21 23 48 50
cortisol 11-beta-ketoreductase deficiency 44 63
11-beta-hydroxysteroid dehydrogenase deficiency type 2 50
syndrome of apparent mineralocorticoid excess 9
mineralocorticoid excess syndrome, apparent 63
ulick syndrome 50
ame 1 44
ame 44


External Ids:

Disease Ontology9 DOID:4367
MeSH36 D043204
OMIM48 218030
MESH via Orphanet37 C537422, D043204
SNOMED-CT59 237770005
ICD10 via Orphanet27 E26.1
SNOMED-CT via Orphanet60 237770005
UMLS via Orphanet64 C0342488, C2936861

Related Diseases for Apparent Mineralocorticoid Excess Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Apparent Mineralocorticoid Excess Syndrome

Drug clinical trials:

Search ClinicalTrials for Apparent Mineralocorticoid Excess Syndrome

Search NIH Clinical Center for Apparent Mineralocorticoid Excess Syndrome

Search CenterWatch for Apparent Mineralocorticoid Excess Syndrome

Genetic Tests for Apparent Mineralocorticoid Excess Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Apparent Mineralocorticoid Excess Syndrome:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess Syndrome21 HSD11B2
2 Apparent Mineralocorticoid Excess23

Anatomical Context for Apparent Mineralocorticoid Excess Syndrome

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34MalaCards
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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess Syndrome:

34
Kidney

Animal Models for Apparent Mineralocorticoid Excess Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5NR3C2, HSD11B2, HSD11B1

Publications for Apparent Mineralocorticoid Excess Syndrome

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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess Syndrome:

65 (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, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 52PharmGKB
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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 Metabolism39
8.6HSD11B2, HSD17B6, HSD11B1

Compounds for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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46Novoseek, 30IUPHAR, 52PharmGKB, 25HMDB, 12DrugBank, 62Tocris 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-hydroxyprogesterone469.7HSD11B2, NR3C2
2doca469.7NR3C2, HSD11B2
3hydrochlorothiazide46 30 52 25 1213.6NR3C2, HSD11B2
4spironolactone46 62 30 52 1213.6NR3C2, HSD11B2
5fluticasone propionate46 52 62 1212.6NR3C2, HSD11B2
6Adrenosterone259.6HSD11B1, HSD11B2
7Tetrahydrocorticosterone259.5HSD11B1, HSD11B2
83a,21-Dihydroxy-5b-pregnane-11,20-dione259.5HSD11B1, HSD11B2
911b-Hydroxyandrost-4-ene-3,17-dione259.5HSD11B2, HSD11B1
10cortisone acetate46 1210.5HSD11B2, HSD11B1
11hydroxysteroid469.5HSD11B2, HSD11B1
12nadp+469.4HSD11B2, HSD11B1
13metyrapone46 62 1211.4NR3C2, HSD11B1
14androstenedione46 2510.2HSD11B2, HSD11B1
15triiodothyronine469.2NR3C2, HSD11B1
16dihydrotestosterone46 30 25 1212.2NR3C2, HSD11B2, HSD17B6
17prostaglandin469.1HSD11B2, HSD11B1
18nicotine46 30 52 1212.0NR3C2, HSD11B2
19NADP259.0HSD11B2, HSD11B1
20allotetrahydrocortisol469.0NR3C2, HSD11B2, HSD11B1
21tetrahydrocortisol46 2510.0HSD11B1, HSD11B2, NR3C2
22nad30 2510.0HSD11B2, HSD17B6, HSD11B1
23tetrahydrocortisone46 2510.0HSD11B1, HSD11B2, NR3C2
2411-dehydrocorticosterone46 2510.0HSD11B1, HSD11B2, NR3C2
25cortisol30 2510.0NR3C2, HSD11B2, HSD11B1
26glycyrrhetinic acid46 2510.0HSD11B1, HSD11B2, NR3C2
27glycyrrhizin46 309.9NR3C2, HSD11B2, HSD11B1
28cortisone46 259.9NR3C2, HSD11B2, HSD11B1
29carbenoxolone46 30 1210.9HSD11B1, HSD11B2, NR3C2
3011beta-hydroxysteroid468.9HSD11B1, HSD11B2, NR3C2
313beta-hydroxysteroid468.9HSD11B1, HSD11B2, NR3C2
32dhea468.9NR3C2, HSD11B2, HSD11B1
33corticosterone46 62 2510.9NR3C2, HSD11B2, HSD11B1
34nad+468.9NR3C2, HSD11B2, HSD11B1
35mifepristone46 30 62 1211.9HSD11B1, HSD11B2, NR3C2
36prednisolone46 30 1210.9HSD11B1, HSD11B2, NR3C2
37hydrocortisone46 3 62 1211.9NR3C2, HSD11B2, HSD11B1
38acth468.9HSD11B1, HSD11B2, NR3C2
39ribonucleic acid468.9HSD11B1, HSD11B2, NR3C2
40nadph46 259.8HSD11B1, HSD11B2, NR3C2
41sodium46 259.8HSD11B1, HSD11B2, NR3C2
42progesterone46 30 62 25 1212.8NR3C2, HSD11B2, HSD11B1
43testosterone46 62 25 1211.7HSD11B1, HSD17B6, NR3C2
44cholesterol46 30 25 1211.7NR3C2, HSD11B2, HSD11B1
45steroid468.7NR3C2, HSD11B2, HSD11B1
46dexamethasone46 52 30 1211.7HSD11B1, HSD11B2, NR3C2
47estrogen468.6NR3C2, HSD11B2, HSD11B1
48glucose468.5HSD11B1, HSD11B2, NR3C2
49nadh46 25 1210.4NR3C2, HSD11B2, HSD17B6, HSD11B1
50estradiol46 25 1210.4NR3C2, HSD11B2, HSD17B6, HSD11B1

GO Terms for genes affiliated with Apparent Mineralocorticoid Excess Syndrome

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet