AME
MCID: APP015
MIFTS: 55

Apparent Mineralocorticoid Excess (AME)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Apparent Mineralocorticoid Excess

MalaCards integrated aliases for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 58 77 54 60 76 30 13 6 41 74
Cortisol 11-Beta-Ketoreductase Deficiency 58 12 54 76 74
Apparent Mineralocorticoid Excess Syndrome 12 38 15 17
Ame 58 54 76
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 12 60
Mineralocorticoid Excess Syndrome, Apparent 45 74
Ulick Syndrome 12 60
Ame1 58 76
11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency 77
Syndrome of Apparent Mineralocorticoid Excess 12
Ame 1 54

Characteristics:

Orphanet epidemiological data:

60
apparent mineralocorticoid excess
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
apparent mineralocorticoid excess:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:4367
OMIM 58 218030
KEGG 38 H00259
MeSH 45 D043204
NCIt 51 C123231
MESH via Orphanet 46 C537422 D043204
ICD10 via Orphanet 35 E26.1
UMLS via Orphanet 75 C0342488 C2936861 C3887949
Orphanet 60 ORPHA320

Summaries for Apparent Mineralocorticoid Excess

OMIM : 58 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 myocardial infarction. 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, heart and lung, 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 : 76 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 : 77 Apparent mineralocorticoid excess is an autosomal recessive disorder causing hypertension (high blood... more...

Related Diseases for Apparent Mineralocorticoid Excess

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

(show top 50) (show all 339)
# Related Disease Score Top Affiliating Genes
1 pseudohypoaldosteronism 30.1 NR3C2 REN
2 myocardial infarction 29.9 NR3C2 PIK3C2A REN
3 familial hypertension 29.8 HSD11B2 NR3C2 REN
4 liddle syndrome 1 29.3 HSD11B2 NR3C1 NR3C2 REN
5 hypokalemia 29.3 HSD11B2 NR3C1 NR3C2 REN
6 pulmonary edema 29.3 PIK3C2A REN
7 congestive heart failure 29.2 NR3C2 REN
8 hyperaldosteronism, familial, type i 29.1 HSD11B2 NR3C1 NR3C2 REN
9 hypertension, essential 28.4 HSD11B2 NR3C1 NR3C2 REN
10 ablepharon-macrostomia syndrome 11.9
11 acute mountain sickness 11.5
12 polymyositis 10.4
13 deafness-infertility syndrome 10.3
14 spondyloocular syndrome 10.2
15 lipoid congenital adrenal hyperplasia 10.1
16 hypothyroidism 10.1
17 xanthogranulomatous cholecystitis 10.1
18 steroid inherited metabolic disorder 10.1 HSD11B2 REN
19 arthrogryposis, distal, type 3 10.1 NR3C2 REN
20 pseudohypoaldosteronism, type i, autosomal dominant 10.1 NR3C2 REN
21 leukemia 10.1
22 heart disease 10.1
23 pseudohypoaldosteronism, type i, autosomal recessive 10.0 NR3C2 REN
24 blood group, junior system 10.0
25 kidney disease 10.0
26 cystic fibrosis 10.0
27 cardiac arrest 10.0
28 nephrocalcinosis 10.0
29 pericardial effusion 10.0 PIK3C2A REN
30 peyronie's disease 10.0
31 rere-related disorders 10.0
32 acute kidney failure 10.0 PIK3C2A REN
33 heart valve disease 10.0 NR3C2 REN
34 prostate cancer 9.9
35 rheumatoid arthritis 9.9
36 prostate cancer, hereditary, 8 9.9
37 prostate cancer, hereditary, 6 9.9
38 cataract 9.9
39 mumps 9.9
40 thyroid cancer 9.9
41 anthrax disease 9.9
42 renal tubular acidosis 9.9 NR3C2 REN
43 corticosteroid-binding globulin deficiency 9.9 HSD11B2 NR3C1
44 adrenal adenoma 9.9 HSD11B1 REN
45 thyroid cancer, nonmedullary, 1 9.9
46 human herpesvirus 8 9.9
47 lymphoma 9.9
48 impotence 9.9
49 measles 9.9
50 dwarfism 9.9

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



Diseases related to Apparent Mineralocorticoid Excess

Symptoms & Phenotypes for Apparent Mineralocorticoid Excess

Human phenotypes related to Apparent Mineralocorticoid Excess:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 failure to thrive 33 HP:0001508
3 short stature 33 HP:0004322
4 hypokalemia 33 HP:0002900
5 growth delay 33 HP:0001510
6 decreased circulating aldosterone level 33 HP:0004319
7 metabolic alkalosis 33 HP:0200114
8 small for gestational age 33 HP:0001518
9 hypertensive retinopathy 33 HP:0001095
10 decreased circulating renin level 33 HP:0003351

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 9.16 NR3C1 NR3C2
2 Increased cell death HMECs cells GR00103-A-0 9.13 NR3C1 NR3C2 PIK3C2A
3 Reduced mammosphere formation GR00396-S 8.92 HSD11B2 NR3C1 NR3C2 PIK3C2A

MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.88 HSD11B1 HSD11B2 NR3C1 NR3C2 PIK3C2A REN
2 behavior/neurological MP:0005386 9.83 HSD11B1 HSD11B2 NR3C1 NR3C2 REN
3 cellular MP:0005384 9.77 HSD11B1 HSD11B2 NR3C1 NR3C2 PIK3C2A
4 homeostasis/metabolism MP:0005376 9.73 HSD11B1 HSD11B2 NR3C1 NR3C2 PIK3C2A REN
5 hematopoietic system MP:0005397 9.72 HSD11B1 NR3C1 NR3C2 PIK3C2A REN
6 muscle MP:0005369 9.55 HSD11B1 HSD11B2 NR3C1 NR3C2 REN
7 nervous system MP:0003631 9.26 HSD11B1 NR3C1 NR3C2 REN
8 renal/urinary system MP:0005367 9.02 HSD11B2 NR3C1 NR3C2 PIK3C2A REN

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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

(show all 13)
# 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 Mineralocorticoids Phase 2, Phase 3,Not Applicable
4 Anti-Inflammatory Agents Phase 2, Phase 3,Not Applicable
5 Hormones Phase 2, Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
7 Hormone Antagonists Phase 2, Phase 3
8
Hydrocortisone Approved, Vet_approved Not Applicable 50-23-7 5754
9
Hydrocortisone acetate Approved, Vet_approved Not Applicable 50-03-3
10
Cortisone Experimental Not Applicable 53-06-5 222786
11 Hydrocortisone 17-butyrate 21-propionate Not Applicable
12 Hydrocortisone-17-butyrate Not Applicable
13 Hydrocortisone hemisuccinate 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 Natural History of Apparent Mineralocorticoid Excess Syndrome Completed NCT00474942
3 An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio Completed NCT02939144 Not Applicable

Search NIH Clinical Center for Apparent Mineralocorticoid Excess

Cochrane evidence based reviews: mineralocorticoid excess syndrome, apparent

Genetic Tests for Apparent Mineralocorticoid Excess

Genetic tests related to Apparent Mineralocorticoid Excess:

# Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess 30 HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess

MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

42
Kidney, Heart, Lung, Prostate, Thyroid, Neutrophil, Bone

Publications for Apparent Mineralocorticoid Excess

Articles related to Apparent Mineralocorticoid Excess:

(show top 50) (show all 102)
# Title Authors Year
1
Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome. ( 30239803 )
2019
2
ERRATUM FOR "Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome". ( 30844046 )
2019
3
Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature. ( 30888125 )
2019
4
Refractory Hypokalemia from Syndrome of Apparent Mineralocorticoid Excess on Low-Dose Posaconazole. ( 29661880 )
2018
5
Licorice-induced apparent mineralocorticoid excess compounded by excessive use of terbutaline and high water intake. ( 29674401 )
2018
6
Bitter experience with liquorice sweetening agent resulting in apparent mineralocorticoid excess with periodic paralysis. ( 30097547 )
2018
7
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. ( 26892095 )
2017
8
Apparent mineralocorticoid excess. ( 26956190 )
2017
9
Apparent mineralocorticoid excess caused by a novel mutation in 11β-hydroxysteroid dehydrogenase type 2 gene. ( 28121843 )
2017
10
Liquorice-induced apparent mineralocorticoid excess presenting in the emergency department. ( 28148579 )
2017
11
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency. ( 29229831 )
2017
12
Apparent Mineralocorticoid Excess Syndrome: A Case of Resistant Hypertension From Licorice Tea Consumption. ( 27251761 )
2016
13
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. ( 27526338 )
2016
14
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. ( 25593612 )
2015
15
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. ( 26126204 )
2015
16
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. ( 23945123 )
2014
17
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-β Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. ( 24936560 )
2014
18
A case of iatrogenic Cushing syndrome and apparent mineralocorticoid excess presenting with accelerated hypertension and proteinuria. ( 25201428 )
2014
19
[Cardiac arrest with syndrome of apparent mineralocorticoid excess]. ( 25497610 )
2014
20
Apparent mineralocorticoid excess (AME) syndrome. ( 23665601 )
2013
21
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. ( 23329753 )
2012
22
Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. ( 21536617 )
2011
23
Apparent mineralocorticoid excess - update. ( 21691952 )
2011
24
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. ( 21042587 )
2010
25
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. ( 18032795 )
2008
26
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. ( 19169481 )
2008
27
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17198920 )
2007
28
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. ( 17314322 )
2007
29
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17516565 )
2007
30
[From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. ( 17447595 )
2007
31
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. ( 17035606 )
2006
32
Distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 14625721 )
2004
33
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. ( 15126515 )
2004
34
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. ( 15134813 )
2004
35
Apparent mineralocorticoid excess syndrome: an overview. ( 15761540 )
2004
36
The distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 12759812 )
2003
37
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. ( 12788846 )
2003
38
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. ( 12860834 )
2003
39
Hypertension in congenital adrenal hyperplasia and apparent mineralocorticoid excess. ( 12381549 )
2002
40
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. ( 11227727 )
2001
41
Apparent mineralocorticoid excess. ( 11306334 )
2001
42
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess. ( 11780688 )
2001
43
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? ( 11005270 )
2000
44
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. ( 11095013 )
2000
45
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. ( 11154148 )
2000
46
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. ( 11202632 )
2000
47
[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
48
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. ( 10489390 )
1999
49
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. ( 10523339 )
1999
50
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. ( 10536001 )
1999

Variations for Apparent Mineralocorticoid Excess

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

76 (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 rs130964246
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 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 HSD11B2 NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121917780 GRCh37 Chromosome 16, 67470003: 67470003
2 HSD11B2 NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys) single nucleotide variant Conflicting interpretations of pathogenicity 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.343_348delGAGTTG (p.Glu115_Leu116del) deletion Conflicting interpretations of pathogenicity rs794726669 GRCh37 Chromosome 16, 67469608: 67469613
14 HSD11B2 NM_000196.3(HSD11B2): c.343_348delGAGTTG (p.Glu115_Leu116del) deletion Conflicting interpretations of pathogenicity rs794726669 GRCh38 Chromosome 16, 67435705: 67435710
15 HSD11B2 NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn) single nucleotide variant Pathogenic rs121917833 GRCh37 Chromosome 16, 67470154: 67470154
16 HSD11B2 NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn) single nucleotide variant Pathogenic rs121917833 GRCh38 Chromosome 16, 67436251: 67436251
17 HSD11B2 NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del) deletion Pathogenic rs794726670 GRCh37 Chromosome 16, 67470583: 67470585
18 HSD11B2 NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del) deletion Pathogenic rs794726670 GRCh38 Chromosome 16, 67436680: 67436682
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.77_78delCA (p.Ser26Terfs) deletion Pathogenic rs794726684 GRCh37 Chromosome 16, 67465228: 67465229
24 HSD11B2 NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs) deletion Pathogenic rs794726684 GRCh38 Chromosome 16, 67431325: 67431326
25 HSD11B2 NM_000196.3(HSD11B2): c.588G> A (p.Ala196=) single nucleotide variant Benign rs5480 GRCh37 Chromosome 16, 67469969: 67469969
26 HSD11B2 NM_000196.3(HSD11B2): c.588G> A (p.Ala196=) single nucleotide variant Benign rs5480 GRCh38 Chromosome 16, 67436066: 67436066
27 HSD11B2 NM_000196.3(HSD11B2): c.272A> C (p.Asp91Ala) single nucleotide variant Uncertain significance rs1356598056 GRCh38 Chromosome 16, 67435634: 67435634
28 HSD11B2 NM_000196.3(HSD11B2): c.272A> C (p.Asp91Ala) single nucleotide variant Uncertain significance rs1356598056 GRCh37 Chromosome 16, 67469537: 67469537
29 HSD11B2 NM_000196.4(HSD11B2): c.220_222delCGCinsGG (p.Arg74Glyfs) indel Uncertain significance GRCh38 Chromosome 16, 67431468: 67431470
30 HSD11B2 NM_000196.4(HSD11B2): c.220_222delCGCinsGG (p.Arg74Glyfs) indel Uncertain significance GRCh37 Chromosome 16, 67465371: 67465373
31 HSD11B2 NM_000196.4(HSD11B2): c.956_964dup (p.Val321_Val322insAlaProVal) duplication Uncertain significance GRCh38 Chromosome 16, 67436741: 67436749
32 HSD11B2 NM_000196.4(HSD11B2): c.956_964dup (p.Val321_Val322insAlaProVal) duplication Uncertain significance GRCh37 Chromosome 16, 67470644: 67470652

Expression for Apparent Mineralocorticoid Excess

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

Pathways for Apparent Mineralocorticoid Excess

Pathways related to Apparent Mineralocorticoid Excess according to KEGG:

38
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

GO Terms for Apparent Mineralocorticoid Excess

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

# Name GO ID Score Top Affiliating Genes
1 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 for Apparent Mineralocorticoid Excess

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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