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AME
MCID: APP015
MIFTS: 55

Apparent Mineralocorticoid Excess (AME)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Apparent Mineralocorticoid Excess

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MalaCards integrated aliases for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 57 76 53 59 75 29 13 6 40 73
Cortisol 11-Beta-Ketoreductase Deficiency 57 12 53 75 73
Apparent Mineralocorticoid Excess Syndrome 12 37 15
Ame 57 53 75
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 12 59
Mineralocorticoid Excess Syndrome, Apparent 44 73
Ulick Syndrome 12 59
Ame1 57 75
11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency 76
Syndrome of Apparent Mineralocorticoid Excess 12
Ame 1 53

Characteristics:

Orphanet epidemiological data:

59
apparent mineralocorticoid excess
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset usually in infancy or childhood
favorable response to spironolactone


HPO:

32
apparent mineralocorticoid excess:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Cardiovascular diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


External Ids:

OMIM 57 218030
Disease Ontology 12 DOID:4367
MeSH 44 D043204
NCIt 50 C123231
Orphanet 59 ORPHA320
UMLS via Orphanet 74 C0342488 C2936861 C3887949
ICD10 via Orphanet 34 E26.1
MESH via Orphanet 45 C537422 D043204
KEGG 37 H00259
Sources

Summaries for Apparent Mineralocorticoid Excess

About this section
OMIM : 57 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low aldosterone, metabolic alkalosis, hypernatremia, and hypokalemia. The disorder is due to a congenital defect in 11-beta-hydroxysteroid dehydrogenase type II (HSD11B2) activity, resulting in decreased conversion of biologically active cortisol to inactive cortisone; this defect allows cortisol to act as a ligand for the mineralocorticoid receptor, resulting in sodium retention and volume expansion. There is a favorable therapeutic response to spironolactone (review by Ferrari, 2010). (218030)

MalaCards based summary : Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to pseudohypoaldosteronism and liddle syndrome 1. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2), and among its related pathways/superpathways are Steroid hormone biosynthesis and Nuclear Receptor transcription pathway. The drugs Licorice and Enoxolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and brain, and related phenotypes are hypertension and failure to thrive

Disease Ontology : 12 A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has material basis in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.

UniProtKB/Swiss-Prot : 75 Apparent mineralocorticoid excess: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

Wikipedia : 76 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

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Related Diseases for Apparent Mineralocorticoid Excess

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

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism 29.9 NR3C2 REN
2 liddle syndrome 1 29.6 REN NR3C2 NR3C1 HSD11B2
3 hypokalemia 29.6 REN NR3C2 NR3C1 HSD11B2
4 hyperaldosteronism, familial, type i 29.4 REN NR3C2 NR3C1 HSD11B2
5 ablepharon-macrostomia syndrome 11.8
6 acute mountain sickness 11.4
7 dysplastic nevus syndrome 11.0
8 hemosiderosis 11.0
9 myocardial infarction 10.4
10 polymyositis 10.2
11 lipoid congenital adrenal hyperplasia 10.1
12 liddle syndrome 2 10.1
13 hypothyroidism 10.1
14 spondyloocular syndrome 10.1
15 xanthogranulomatous cholecystitis 10.0
16 heart disease 10.0
17 corticosteroid-binding globulin deficiency 10.0 HSD11B2 NR3C1
18 adult syndrome 10.0 HSD11B2 NR3C1
19 cystic fibrosis 10.0
20 cardiac arrest 10.0
21 nephrocalcinosis 10.0
22 steroid inherited metabolic disorder 10.0 HSD11B2 REN
23 peyronie's disease 10.0
24 leukemia 10.0
25 arthrogryposis, distal, type 3 10.0 NR3C2 REN
26 pseudohypoaldosteronism, type i, autosomal dominant 10.0 NR3C2 REN
27 pseudohypoaldosteronism, type i, autosomal recessive 10.0 NR3C2 REN
28 arteries, anomalies of 9.9
29 prostate cancer 9.9
30 pseudohyperkalemia, familial, 2, due to red cell leak 9.9 NR3C2 REN
31 heart valve disease 9.9 NR3C2 REN
32 human herpesvirus 8 9.9
33 cataract 9.9
34 dwarfism 9.9
35 renal tubular acidosis 9.9 NR3C2 REN
36 ocular hypertension 9.8 HSD11B1 NR3C1
37 renal fibrosis 9.8 NR3C2 REN
38 prader-willi syndrome 9.8
39 rheumatoid arthritis 9.8
40 gallbladder disease 1 9.8
41 muscle hypertrophy 9.8
42 aortic valve disease 2 9.8
43 arthritis 9.8
44 chronic kidney failure 9.8
45 coronary artery anomaly 9.8
46 impotence 9.8
47 paraplegia 9.8
48 myeloid leukemia 9.8
49 tremor 9.8
50 anuria 9.8 REN NR3C2 HSD11B2

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



Diseases related to Apparent Mineralocorticoid Excess
Sources

Symptoms & Phenotypes for Apparent Mineralocorticoid Excess

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Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
hypertension

Growth Height:
short stature

Metabolic Features:
metabolic alkalosis

Genitourinary Kidneys:
increased renal salt reabsorption
kidney failure if untreated

Growth Other:
failure to thrive

Laboratory Abnormalities:
hypokalemia
low plasma renin activity
decreased serum aldosterone
increased urinary cortisol/cortisone ratio

Growth Weight:
low birth weight


Clinical features from OMIM:

218030

Human phenotypes related to Apparent Mineralocorticoid Excess:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 failure to thrive 32 HP:0001508
3 short stature 32 HP:0004322
4 hypokalemia 32 HP:0002900
5 growth delay 32 HP:0001510
6 decreased circulating aldosterone level 32 HP:0004319
7 small for gestational age 32 HP:0001518
8 metabolic alkalosis 32 HP:0200114
9 hypertensive retinopathy 32 HP:0001095
10 decreased circulating renin level 32 HP:0003351

GenomeRNAi Phenotypes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.62 NR3C1 NR3C2

MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.72 HSD11B1 HSD11B2 NR3C1 NR3C2 REN
2 cardiovascular system MP:0005385 9.65 HSD11B1 HSD11B2 NR3C1 NR3C2 REN
3 homeostasis/metabolism MP:0005376 9.55 HSD11B1 HSD11B2 NR3C1 NR3C2 REN
4 muscle MP:0005369 9.35 HSD11B1 HSD11B2 NR3C1 NR3C2 REN
5 renal/urinary system MP:0005367 8.92 HSD11B2 NR3C1 NR3C2 REN
Sources

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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Drugs for Apparent Mineralocorticoid Excess (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Licorice Approved Phase 2, Phase 3,Not Applicable
2
Enoxolone Investigational Phase 2, Phase 3 471-53-4 18526330
3 Anti-Inflammatory Agents Phase 2, Phase 3,Not Applicable
4 Mineralocorticoids Phase 2, Phase 3,Not Applicable
5 Hormones Phase 2, Phase 3
6 Hormone Antagonists Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8
Cortisone acetate Approved, Investigational Not Applicable 1950-04-4, 50-04-4 5745
9
Hydrocortisone Approved, Vet_approved Not Applicable 50-23-7 5754
10
Hydrocortisone acetate Approved, Vet_approved Not Applicable 50-03-3
11
Cortisone Experimental Not Applicable 53-06-5 222786
12 Hydrocortisone-17-butyrate Not Applicable
13 Hydrocortisone 17-butyrate 21-propionate Not Applicable
14 Cortisol succinate Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3 Glycyrrhetic Acid;Placebo
2 An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio Unknown status NCT02939144 Not Applicable
3 Natural History of Apparent Mineralocorticoid Excess Syndrome Completed NCT00474942

Search NIH Clinical Center for Apparent Mineralocorticoid Excess

Cochrane evidence based reviews: mineralocorticoid excess syndrome, apparent

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Genetic Tests for Apparent Mineralocorticoid Excess

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Genetic tests related to Apparent Mineralocorticoid Excess:

# Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess 29 HSD11B2
Sources

Anatomical Context for Apparent Mineralocorticoid Excess

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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

41
Kidney, Lung, Brain, Heart, Thyroid, Myeloid, Cortex
Sources

Publications for Apparent Mineralocorticoid Excess

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Articles related to Apparent Mineralocorticoid Excess:

(show top 50) (show all 98)
# Title Authors Year
1
Refractory Hypokalemia from Syndrome of Apparent Mineralocorticoid Excess on Low-Dose Posaconazole. ( 29661880 )
2018
2
Licorice-induced apparent mineralocorticoid excess compounded by excessive use of terbutaline and high water intake. ( 29674401 )
2018
3
Bitter experience with liquorice sweetening agent resulting in apparent mineralocorticoid excess with periodic paralysis. ( 30097547 )
2018
4
Clinical, Biochemical and Genetic Characteristics of "Non-Classical" Apparent Mineralocorticoid Excess Syndrome. ( 30239803 )
2018
5
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11I^-hydroxysteroid dehydrogenase type 2 deficiency. ( 29229831 )
2017
6
Liquorice-induced apparent mineralocorticoid excess presenting in the emergency department. ( 28148579 )
2017
7
Apparent mineralocorticoid excess caused by a novel mutation in 11I^-hydroxysteroid dehydrogenase type 2 gene. ( 28121843 )
2017
8
Apparent mineralocorticoid excess. ( 26956190 )
2016
9
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. ( 26892095 )
2016
10
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. ( 27526338 )
2016
11
Apparent Mineralocorticoid Excess Syndrome: A Case of Resistant Hypertension From Licorice Tea Consumption. ( 27251761 )
2016
12
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. ( 26126204 )
2015
13
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. ( 25593612 )
2015
14
[Cardiac arrest with syndrome of apparent mineralocorticoid excess]. ( 25497610 )
2014
15
A case of iatrogenic Cushing syndrome and apparent mineralocorticoid excess presenting with accelerated hypertension and proteinuria. ( 25201428 )
2014
16
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-I^ Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. ( 24936560 )
2014
17
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. ( 23945123 )
2014
18
Apparent mineralocorticoid excess (AME) syndrome. ( 23665601 )
2013
19
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. ( 23329753 )
2012
20
Apparent mineralocorticoid excess - update. ( 21691952 )
2011
21
Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. ( 21536617 )
2011
22
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. ( 21042587 )
2010
23
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. ( 19169481 )
2008
24
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. ( 18032795 )
2008
25
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17198920 )
2007
26
[From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. ( 17447595 )
2007
27
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. ( 17314322 )
2007
28
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17516565 )
2007
29
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. ( 17035606 )
2006
30
Distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 14625721 )
2004
31
Apparent mineralocorticoid excess syndrome: an overview. ( 15761540 )
2004
32
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. ( 15126515 )
2004
33
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. ( 15134813 )
2004
34
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. ( 12860834 )
2003
35
The distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 12759812 )
2003
36
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. ( 12788846 )
2003
37
Hypertension in congenital adrenal hyperplasia and apparent mineralocorticoid excess. ( 12381549 )
2002
38
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess. ( 11780688 )
2001
39
Apparent mineralocorticoid excess. ( 11306334 )
2001
40
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. ( 11227727 )
2001
41
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. ( 11095013 )
2000
42
[Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. ( 10883518 )
2000
43
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. ( 11202632 )
2000
44
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. ( 11154148 )
2000
45
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? ( 11005270 )
2000
46
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. ( 10489390 )
1999
47
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. ( 10523339 )
1999
48
[Mineralocorticoid-like hypertension. "Apparent mineralocorticoid excess". A hereditary type of hypertension?]. ( 10578695 )
1999
49
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. ( 10536001 )
1999
50
Prevalence of mild apparent mineralocorticoid excess in Mennonites. ( 10599743 )
1999
Sources

Variations for Apparent Mineralocorticoid Excess

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

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 HSD11B2 p.Arg208Cys VAR_006958 rs121917780
2 HSD11B2 p.Arg213Cys VAR_006959 rs28934591
3 HSD11B2 p.Leu179Arg VAR_015635
4 HSD11B2 p.Ser180Phe VAR_015636
5 HSD11B2 p.Arg186Cys VAR_015637 rs768507002
6 HSD11B2 p.Arg208His VAR_015638 rs28934592
7 HSD11B2 p.Ala237Val VAR_015640
8 HSD11B2 p.Asp244Asn VAR_015641
9 HSD11B2 p.Leu250Arg VAR_015642
10 HSD11B2 p.Arg279Cys VAR_015644 rs28934594
11 HSD11B2 p.Ala328Val VAR_015645 rs145303670
12 HSD11B2 p.Tyr338His VAR_015646 rs387907117
13 HSD11B2 p.Asp223Asn VAR_066514 rs121917833
14 HSD11B2 p.Arg337Cys VAR_066515 rs121917781

ClinVar genetic disease variations for Apparent Mineralocorticoid Excess:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD11B2 NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs121917780 GRCh37 Chromosome 16, 67470003: 67470003
2 HSD11B2 NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs121917780 GRCh38 Chromosome 16, 67436100: 67436100
3 HSD11B2 NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys) single nucleotide variant Pathogenic rs28934591 GRCh37 Chromosome 16, 67470018: 67470018
4 HSD11B2 NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys) single nucleotide variant Pathogenic rs28934591 GRCh38 Chromosome 16, 67436115: 67436115
5 HSD11B2 NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys) single nucleotide variant Pathogenic rs121917781 GRCh37 Chromosome 16, 67470697: 67470697
6 HSD11B2 NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys) single nucleotide variant Pathogenic rs121917781 GRCh38 Chromosome 16, 67436794: 67436794
7 HSD11B2 NM_000196.3(HSD11B2): c.623G> A (p.Arg208His) single nucleotide variant Pathogenic rs28934592 GRCh37 Chromosome 16, 67470004: 67470004
8 HSD11B2 NM_000196.3(HSD11B2): c.623G> A (p.Arg208His) single nucleotide variant Pathogenic rs28934592 GRCh38 Chromosome 16, 67436101: 67436101
9 HSD11B2 NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) deletion Pathogenic rs397509434 GRCh37 Chromosome 16, 67470698: 67470700
10 HSD11B2 NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) deletion Pathogenic rs397509434 GRCh38 Chromosome 16, 67436795: 67436797
11 HSD11B2 NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys) single nucleotide variant Pathogenic rs28934594 GRCh37 Chromosome 16, 67470523: 67470523
12 HSD11B2 NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys) single nucleotide variant Pathogenic rs28934594 GRCh38 Chromosome 16, 67436620: 67436620
13 HSD11B2 NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn) single nucleotide variant Pathogenic rs121917833 GRCh37 Chromosome 16, 67470154: 67470154
14 HSD11B2 NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn) single nucleotide variant Pathogenic rs121917833 GRCh38 Chromosome 16, 67436251: 67436251
15 HSD11B2 NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del) deletion Pathogenic rs794726670 GRCh37 Chromosome 16, 67470583: 67470585
16 HSD11B2 NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del) deletion Pathogenic rs794726670 GRCh38 Chromosome 16, 67436680: 67436682
17 HSD11B2 NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs) deletion Pathogenic rs794726684 GRCh38 Chromosome 16, 67431325: 67431326
18 HSD11B2 NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs) deletion Pathogenic rs794726684 GRCh37 Chromosome 16, 67465228: 67465229
19 HSD11B2 NM_000196.3(HSD11B2): c.664+14C> T single nucleotide variant Pathogenic rs376023420 GRCh37 Chromosome 16, 67470059: 67470059
20 HSD11B2 NM_000196.3(HSD11B2): c.664+14C> T single nucleotide variant Pathogenic rs376023420 GRCh38 Chromosome 16, 67436156: 67436156
21 HSD11B2 NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His) single nucleotide variant Pathogenic rs387907117 GRCh37 Chromosome 16, 67470700: 67470700
22 HSD11B2 NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His) single nucleotide variant Pathogenic rs387907117 GRCh38 Chromosome 16, 67436797: 67436797
23 HSD11B2 NM_000196.3(HSD11B2): c.588G> A (p.Ala196=) single nucleotide variant Benign rs5480 GRCh37 Chromosome 16, 67469969: 67469969
24 HSD11B2 NM_000196.3(HSD11B2): c.588G> A (p.Ala196=) single nucleotide variant Benign rs5480 GRCh38 Chromosome 16, 67436066: 67436066
25 HSD11B2 NM_000196.3(HSD11B2): c.272A> C (p.Asp91Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67435634: 67435634
26 HSD11B2 NM_000196.3(HSD11B2): c.272A> C (p.Asp91Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67469537: 67469537
Sources

Expression for Apparent Mineralocorticoid Excess

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

Pathways for Apparent Mineralocorticoid Excess

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Pathways related to Apparent Mineralocorticoid Excess according to KEGG:

37
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

Pathways related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Nuclear Receptor transcription pathway 66
Show member pathways
 11.32 NR3C1 NR3C2
2
Metabolism of steroid hormones 66
Show member pathways
 11.27 HSD11B1 HSD11B2
3
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 61
Show member pathways
 11.16 NR3C2 REN
4
Steroid hormone biosynthesis 37
Show member pathways
 10.98 HSD11B1 HSD11B2
5
Aldosterone-regulated sodium reabsorption 37
10.52 HSD11B2 NR3C2
6
Prostaglandin Synthesis and Regulation 1
10.1 HSD11B1 HSD11B2
Sources

GO Terms for Apparent Mineralocorticoid Excess

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Cellular components related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.8 HSD11B1 HSD11B2 NR3C2

Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 8.96 NR3C1 NR3C2
2 glucocorticoid biosynthetic process GO:0006704 8.62 HSD11B1 HSD11B2

Molecular functions related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.16 NR3C1 NR3C2
2 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity GO:0003845 8.96 HSD11B1 HSD11B2
3 steroid binding GO:0005496 8.92 HSD11B1 HSD11B2 NR3C1 NR3C2
Sources

Sources for Apparent Mineralocorticoid Excess

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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