MCID: APP015
MIFTS: 54

Apparent Mineralocorticoid Excess

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

Aliases & Classifications for Apparent Mineralocorticoid Excess

MalaCards integrated aliases for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 57 12 76 53 59 75 29 13 6 44 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
Ape 12

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:



External Ids:

OMIM 57 218030
Disease Ontology 12 DOID:0090121 DOID:4367
ICD10 33 E26.1
NCIt 50 C123231
SNOMED-CT 68 237770005
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

Summaries for Apparent Mineralocorticoid Excess

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 liddle syndrome and pulmonary edema. 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 Metabolism of steroid hormones. The drugs Licorice and Enoxolone have been mentioned in the context of this disorder. Affiliated tissues include kidney and adrenal gland, and related phenotypes are hypertension and hypertensive retinopathy

Disease Ontology : 12 An adrenal gland hyperfunction 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...

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 228)
# Related Disease Score Top Affiliating Genes
1 liddle syndrome 29.8 HSD11B2 NR3C1 NR3C2 REN
2 pulmonary edema 29.5 PIK3C2A REN
3 adrenal gland hyperfunction 29.2 NR3C1 NR3C2 POMC
4 lipoid congenital adrenal hyperplasia 28.6 POMC REN
5 hyperaldosteronism, familial, type i 28.1 HSD11B2 NR3C1 NR3C2 POMC REN
6 hypokalemia 27.6 CLCNKB HSD11B2 NR3C1 POMC REN
7 antiphospholipid syndrome 12.1
8 ablepharon-macrostomia syndrome 11.7
9 catastrophic antiphospholipid syndrome 11.6
10 autoimmune polyendocrine syndrome, type ii 11.6
11 musical perfect pitch 11.5
12 acute mountain sickness 11.2
13 autoimmune polyendocrine syndrome 11.2
14 autoimmune polyendocrine syndrome type 1 11.2
15 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.1
16 glycosylphosphatidylinositol deficiency 11.1
17 fryns microphthalmia syndrome 11.0
18 dysplastic nevus syndrome 10.9
19 hemosiderosis 10.9
20 autoimmune polyendocrinopathy type 4 10.8
21 autoimmune polyendocrinopathy type 3 10.8
22 leukemia, chronic myeloid 10.8
23 sleep apnea 10.8
24 periapical periodontitis 10.8
25 autoimmune polyglandular syndrome type 3 10.8
26 arthrogryposis, distal, type 3 10.6 NR3C2 REN
27 pseudohypoaldosteronism, type i, autosomal dominant 10.6 NR3C2 REN
28 pseudohypoaldosteronism, type i, autosomal recessive 10.5 NR3C2 REN
29 adult syndrome 10.5 HSD11B2 NR3C1
30 pericardial effusion 10.3 PIK3C2A REN
31 acute kidney failure 10.3 PIK3C2A REN
32 bartter disease 10.2 CLCNKB REN
33 ocular hypertension 10.1 HSD11B1 HSD11B2 NR3C1
34 gitelman syndrome 10.1 CLCNKB REN
35 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 NR3C2 PIK3C2A REN
36 congestive heart failure 10.1 NR3C2 PIK3C2A REN
37 acute adrenal insufficiency 10.0 POMC REN
38 steroid inherited metabolic disorder 10.0 HSD11B2 POMC
39 hypoaldosteronism 10.0 POMC REN
40 hypothyroidism 10.0
41 renal tubular acidosis 10.0 ATP6V0A4 NR3C2 REN
42 inappropriate adh syndrome 10.0 POMC REN
43 persistent fetal circulation syndrome 10.0 HSD11B2 POMC
44 prostatitis 10.0
45 adrenal cortical hypofunction 10.0 POMC REN
46 familial glucocorticoid deficiency 10.0 POMC REN
47 nelson syndrome 9.9 NR3C1 POMC
48 premenstrual tension 9.9 POMC REN
49 acth-secreting pituitary adenoma 9.9 NR3C1 POMC
50 leukemia 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

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 hypertensive retinopathy 32 HP:0001095
3 failure to thrive 32 HP:0001508
4 growth delay 32 HP:0001510
5 small for gestational age 32 HP:0001518
6 hypokalemia 32 HP:0002900
7 decreased circulating renin level 32 HP:0003351
8 decreased circulating aldosterone level 32 HP:0004319
9 short stature 32 HP:0004322
10 metabolic alkalosis 32 HP:0200114

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 HSD11B2 NR3C1 NR3C2 PIK3C2A POMC

MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 REN HSD11B2 NR3C1 NR3C2 PIK3C2A ATP6V0A4
2 cardiovascular system MP:0005385 9.87 REN HSD11B2 NR3C1 NR3C2 PIK3C2A POMC
3 homeostasis/metabolism MP:0005376 9.81 REN HSD11B2 NR3C1 NR3C2 PIK3C2A ATP6V0A4
4 growth/size/body region MP:0005378 9.8 REN NR3C1 NR3C2 ATP6V0A4 PIK3C2A POMC
5 muscle MP:0005369 9.35 REN HSD11B2 NR3C1 NR3C2 HSD11B1
6 renal/urinary system MP:0005367 9.23 HSD11B2 NR3C1 NR3C2 PIK3C2A ATP6V0A4 CLCNKB

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Licorice Approved, Nutraceutical 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 Hormone Antagonists Phase 2, Phase 3
5 Hormones Phase 2, Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
7 Mineralocorticoids Phase 2, Phase 3,Not Applicable
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
Butyric Acid Experimental, Investigational Not Applicable 107-92-6 264
11 Cortisol succinate Not Applicable
12
Cortisone Not Applicable 53-06-5 222786
13 Hydrocortisone 17-butyrate 21-propionate Not Applicable
14 Hydrocortisone acetate Not Applicable
15 Hydrocortisone-17-butyrate 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 Recruiting 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 29 HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess

MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

41
Kidney, Adrenal Gland

Publications for Apparent Mineralocorticoid Excess

Articles related to Apparent Mineralocorticoid Excess:

(show top 50) (show all 66)
# 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
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11I^-hydroxysteroid dehydrogenase type 2 deficiency. ( 29229831 )
2017
4
Liquorice-induced apparent mineralocorticoid excess presenting in the emergency department. ( 28148579 )
2017
5
Apparent mineralocorticoid excess caused by a novel mutation in 11I^-hydroxysteroid dehydrogenase type 2 gene. ( 28121843 )
2017
6
Apparent mineralocorticoid excess. ( 26956190 )
2016
7
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. ( 26892095 )
2016
8
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. ( 27526338 )
2016
9
Apparent Mineralocorticoid Excess Syndrome: A Case of Resistant Hypertension From Licorice Tea Consumption. ( 27251761 )
2016
10
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. ( 26126204 )
2015
11
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. ( 25593612 )
2015
12
[Cardiac arrest with syndrome of apparent mineralocorticoid excess]. ( 25497610 )
2014
13
A case of iatrogenic Cushing syndrome and apparent mineralocorticoid excess presenting with accelerated hypertension and proteinuria. ( 25201428 )
2014
14
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-I^ Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. ( 24936560 )
2014
15
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. ( 23945123 )
2014
16
Apparent mineralocorticoid excess (AME) syndrome. ( 23665601 )
2013
17
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. ( 23329753 )
2012
18
Apparent mineralocorticoid excess - update. ( 21691952 )
2011
19
Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. ( 21536617 )
2011
20
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. ( 21042587 )
2010
21
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. ( 19169481 )
2008
22
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. ( 18032795 )
2008
23
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17198920 )
2007
24
[From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. ( 17447595 )
2007
25
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. ( 17314322 )
2007
26
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. ( 17516565 )
2007
27
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. ( 17035606 )
2006
28
Distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 14625721 )
2004
29
Apparent mineralocorticoid excess syndrome: an overview. ( 15761540 )
2004
30
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. ( 15126515 )
2004
31
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. ( 15134813 )
2004
32
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. ( 12860834 )
2003
33
The distinction between Liddle syndrome and apparent mineralocorticoid excess. ( 12759812 )
2003
34
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. ( 12788846 )
2003
35
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess. ( 11780688 )
2001
36
Apparent mineralocorticoid excess. ( 11306334 )
2001
37
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. ( 11227727 )
2001
38
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. ( 11095013 )
2000
39
[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
40
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. ( 11202632 )
2000
41
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. ( 11154148 )
2000
42
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? ( 11005270 )
2000
43
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. ( 10489390 )
1999
44
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. ( 10523339 )
1999
45
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. ( 10536001 )
1999
46
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. ( 9851783 )
1998
47
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. ( 9661590 )
1998
48
Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. ( 9683587 )
1998
49
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. ( 9398712 )
1997
50
[A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. ( 9404418 )
1997

Variations for Apparent Mineralocorticoid Excess

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
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 24)
# 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 GRCh37 Chromosome 16, 67465228: 67465229
18 HSD11B2 NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs) deletion Pathogenic rs794726684 GRCh38 Chromosome 16, 67431325: 67431326
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.272A> C (p.Asp91Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 67435634: 67435634
24 HSD11B2 NM_000196.3(HSD11B2): c.272A> C (p.Asp91Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 67469537: 67469537

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:

37
# 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 steroid hormone mediated signaling pathway GO:0043401 9.16 NR3C1 NR3C2
2 excretion GO:0007588 8.96 ATP6V0A4 CLCNKB
3 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 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
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