AME
MCID: APP015
MIFTS: 57

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 57 73 20 58 72 29 13 6 39 70
Cortisol 11-Beta-Ketoreductase Deficiency 57 12 20 72 70
Apparent Mineralocorticoid Excess Syndrome 12 36 15 17
Ame 57 20 72
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 12 58
Mineralocorticoid Excess Syndrome, Apparent 44 70
Ulick Syndrome 12 58
Ame1 57 72
11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency 73
Syndrome of Apparent Mineralocorticoid Excess 12
Ame 1 20

Characteristics:

Orphanet epidemiological data:

58
apparent mineralocorticoid excess
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
apparent mineralocorticoid excess:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:4367
OMIM® 57 218030
KEGG 36 H00259
MeSH 44 D043204
NCIt 50 C123231
SNOMED-CT 67 237770005
MESH via Orphanet 45 C537422 D043204
ICD10 via Orphanet 33 E26.1
UMLS via Orphanet 71 C0342488 C2936861 C3887949
Orphanet 58 ORPHA320
UMLS 70 C0342488 C2936861 C3887949

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) (Updated 20-May-2021)

MalaCards based summary : Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to hypoaldosteronism and hypertensive retinopathy. 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 Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Frovatriptan and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and bone, and related phenotypes are hypertension and hypokalemia

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.

KEGG : 36 Apparent mineralocorticoid excess (AME) syndrome is characterized by hypertension, low plasma renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which is a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone.

UniProtKB/Swiss-Prot : 72 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 : 73 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 118)
# Related Disease Score Top Affiliating Genes
1 hypoaldosteronism 30.8 REN CYP11B2
2 hypertensive retinopathy 30.7 REN NR3C2
3 cortisone reductase deficiency 30.4 HSD11B2 HSD11B1
4 hypokalemia 30.3 REN NR3C2 NR3C1 KCNJ1 HSD11B2 CYP11B1
5 lipoid congenital adrenal hyperplasia 30.1 REN CYP11B2 CYP11B1
6 adenoma 29.6 REN HSD11B2 CYP11B2 CYP11B1
7 familial hypertension 29.5 WNK4 REN NR3C2 HSD11B2 CYP11B2
8 conn's syndrome 29.1 REN NR3C2 NR3C1 HSD11B2 HSD11B1 CYP11B2
9 pseudohypoaldosteronism 28.7 WNK4 REN NR3C2 NR3C1 KCNJ1 CYP11B2
10 hyperaldosteronism, familial, type i 28.7 WNK4 REN NR3C2 NR3C1 HSD11B2 CYP11B2
11 liddle syndrome 1 28.3 WNK4 REN NR3C2 NR3C1 KCNJ1 HSD11B2
12 hypertension, essential 27.9 WNK4 REN PIK3C2A NR3C2 NR3C1 KCNJ1
13 autosomal recessive disease 10.5
14 nephrocalcinosis 10.3
15 pseudohypoaldosteronism, type i, autosomal dominant 10.2 REN NR3C2
16 corticosteroid-binding globulin deficiency 10.2 NR3C1 HSD11B2
17 bile acid synthesis defect, congenital, 2 10.2 NR3C2 NR3C1
18 hypothyroidism 10.2
19 lateral myocardial infarction 10.2 PIK3C2A NR3C2
20 perinephritis 10.2 REN PIK3C2A
21 alzheimer disease 16 10.2 NR3C1 ENSG00000273516
22 cardiac tamponade 10.1 REN PIK3C2A
23 coronary artery vasospasm 10.1 REN PIK3C2A
24 microvascular complications of diabetes 3 10.1 REN MIR192
25 adult syndrome 10.1 REN NR3C1 HSD11B2
26 acute kidney tubular necrosis 10.1 REN PIK3C2A
27 postpartum depression 10.1 NR3C2 NR3C1 HSD11B1
28 antenatal bartter syndrome 10.1 REN KCNJ1
29 ocular hypertension 10.1 NR3C2 NR3C1 HSD11B1
30 left bundle branch hemiblock 10.1 REN PIK3C2A NR3C2
31 mitral valve insufficiency 10.1 REN PIK3C2A NR3C2
32 pericardium disease 10.1 REN PIK3C2A
33 apnea, obstructive sleep 10.1 REN NR3C2
34 acromegaly 10.1
35 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
36 cystic fibrosis 10.0
37 ventricular fibrillation, paroxysmal familial, 1 10.0
38 cortisone reductase deficiency 1 10.0
39 glucocorticoid resistance, generalized 10.0
40 proteinuria, chronic benign 10.0
41 cardiac arrest 10.0
42 pre-eclampsia 10.0
43 diarrhea 10.0
44 tricuspid valve insufficiency 10.0
45 liver cirrhosis 10.0
46 kidney disease 10.0
47 idiopathic edema 10.0
48 periodic paralysis 10.0
49 hypertensive heart disease 10.0 REN NR3C2 CYP11B2
50 mineral metabolism disease 10.0 REN NR3C2 KCNJ1

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
3 decreased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003351
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 polydipsia 58 31 frequent (33%) Frequent (79-30%) HP:0001959
7 nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000121
8 decreased circulating aldosterone level 58 31 frequent (33%) Frequent (79-30%) HP:0004319
9 hypokalemic metabolic alkalosis 58 31 frequent (33%) Frequent (79-30%) HP:0001960
10 abnormality of circulating cortisol level 58 31 frequent (33%) Frequent (79-30%) HP:0011731
11 abnormal urine sodium concentration 58 31 frequent (33%) Frequent (79-30%) HP:0012603
12 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
13 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
14 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
15 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
16 hypertensive retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001095
17 growth delay 31 HP:0001510
18 small for gestational age 31 HP:0001518
19 metabolic alkalosis 31 HP:0200114
20 renal sodium wasting 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Growth Height:
short stature

Metabolic Features:
metabolic alkalosis

Genitourinary Kidneys:
increased renal salt reabsorption
kidney failure if untreated

Cardiovascular Vascular:
hypertension

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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 CYP11B1 CYP11B2 HSD11B1 HSD11B2 KCNJ1 NR3C1
2 homeostasis/metabolism MP:0005376 9.85 CYP11B1 CYP11B2 HSD11B1 HSD11B2 KCNJ1 NR3C1
3 muscle MP:0005369 9.43 CYP11B1 HSD11B1 HSD11B2 NR3C1 NR3C2 REN
4 renal/urinary system MP:0005367 9.28 CYP11B1 CYP11B2 HSD11B2 KCNJ1 NR3C1 NR3C2

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Frovatriptan Approved, Investigational Phase 4 158747-02-5 77992
2
Topiramate Approved Phase 4 97240-79-4 5284627
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Memantine Approved, Investigational Phase 4 19982-08-2 4054
5
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
6 Hypoglycemic Agents Phase 4
7 Anticonvulsants Phase 4
8 Serotonin Receptor Agonists Phase 4
9 Pharmaceutical Solutions Phase 4
10 Ophthalmic Solutions Phase 4
11 Dopamine Agents Phase 4
12 Excitatory Amino Acid Antagonists Phase 4
13 Antiparkinson Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 N-Methylaspartate Phase 4
16
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
17
Licorice Approved Phase 2, Phase 3
18
Aminosalicylic Acid Approved Phase 3 65-49-6 4649
19
Enoxolone Investigational Phase 2, Phase 3 471-53-4 18526330
20 Mineralocorticoids Phase 2, Phase 3
21 Cholinergic Agents Phase 3
22 Anesthetics Phase 3
23 Cholinergic Antagonists Phase 3
24 Muscarinic Antagonists Phase 3
25
Glycopyrrolate Phase 3 596-51-0 3494
26 Anti-Inflammatory Agents Phase 3
27 Antirheumatic Agents Phase 3
28 Mesalamine Phase 3 89-57-6
29 Anti-Bacterial Agents Phase 3
30 Anti-Infective Agents Phase 3
31 Analgesics, Non-Narcotic Phase 3
32 Analgesics Phase 3
33 Antitubercular Agents Phase 3
34 Anti-Inflammatory Agents, Non-Steroidal Phase 3
35
Fluorouracil Approved Phase 2 51-21-8 3385
36
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
37
leucovorin Approved Phase 2 58-05-9 6006
38
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
39
Eniluracil Investigational Phase 2 59989-18-3
40 Micronutrients Phase 2
41 Antidotes Phase 2
42 Trace Elements Phase 2
43 Nutrients Phase 2
44 Vitamin B9 Phase 2
45 Immunosuppressive Agents Phase 2
46 Folate Phase 2
47 Vitamin B Complex Phase 2
48 Protective Agents Phase 2
49 Vitamins Phase 2
50 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Single-Blind Pilot Study to Compare the Efficacy and Cost-Effectiveness of Frovatriptan vs. Topiramate for the Prevention of Migraine Completed NCT00846495 Phase 4 topiramate;frovatriptan
2 Effectiveness of Liposomial Ozonized-Oil on Ocular Microbial Flora Before Cataract Surgery Completed NCT04087733 Phase 4 OZODROP
3 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg
4 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3 Glycyrrhetic Acid;Placebo
5 A Six-Month, Multi-Center, Open-Label Study to Assess the Safety and Efficacy of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions Completed NCT00491894 Phase 3 Oral Glycopyrrolate Liquid
6 A Randomized, Double-blind, Parallel-group Study to Assess the Safety and Efficacy of Asacol® (1.2 to 4.8g/Day) 400 mg Delayed-release Tablets Given Twice Daily for 26 Weeks to Children and Adolescents for the Maintenance of Remission of Ulcerative Colitis Terminated NCT01004185 Phase 3 Asacol 400 mg;Asacol 400 mg
7 A Comparative, Multicenter, Open-Label, Randomized, Phase 2 Study of the Safety and Antitumor Activity of Oral Eniluracil + 5 Fluorouracil + Leucovorin Versus Capecitabine Monotherapy in Subjects With Metastatic Breast Cancer Unknown status NCT01231802 Phase 2 Eniluracil;5-Fluorouracil;Leucovorin;Capecitabine
8 Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol Completed NCT00474942
9 An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio Completed NCT02939144

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:

40
Kidney, Heart, Bone, Lung, Adrenal Gland, Myeloid, Colon

Publications for Apparent Mineralocorticoid Excess

Articles related to Apparent Mineralocorticoid Excess:

(show top 50) (show all 331)
# Title Authors PMID Year
1
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. 6 61 57
17314322 2007
2
Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess. 57 6 61
9683587 1998
3
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. 57 6 61
7670488 1995
4
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. 61 6 57
7608290 1995
5
Congenital 11 beta-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolite profiles of four patients and their families. 57 6
3860318 1985
6
The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension. 57 61
19909806 2010
7
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. 6 61
15126515 2004
8
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 6 61
12788846 2003
9
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. 57 61
10523339 1999
10
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. 61 57
10536001 1999
11
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. 61 6
9851783 1998
12
A genetic defect resulting in mild low-renin hypertension. 57 61
9707624 1998
13
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 6 61
9398712 1997
14
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. 6 61
7593456 1995
15
Apparent mineralocorticoid excess type II. 57 61
8191552 1994
16
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. 61 57
8370690 1993
17
Pathogenesis of the type 2 variant of the syndrome of apparent mineralocorticoid excess. 57 61
2403571 1990
18
Syndrome of apparent mineralocorticoid excess. A defect in the cortisol-cortisone shuttle. 61 57
3164727 1988
19
The syndrome of apparent mineralocorticoid excess: its association with 11 beta-dehydrogenase and 5 beta-reductase deficiency and some consequences for corticosteroid metabolism. 57 61
3460996 1986
20
A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. 61 57
226561 1979
21
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
22
Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. 57
870517 1977
23
ERRATUM FOR: "Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome". 61
33438719 2021
24
Species-specific differences in the inhibition of 11β-hydroxysteroid dehydrogenase 2 by itraconazole and posaconazole. 61
33387577 2021
25
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia. 61
32816205 2020
26
Apparent Mineralocorticoid Excess: Research as an Art Form. 61
32990924 2020
27
Posaconazole-Induced Apparent Mineralocorticoid Excess. 61
33305136 2020
28
Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension. 61
33236328 2020
29
Trick or Treat? Licorice-Induced Hypokalemia: A Case Report. 61
33391895 2020
30
The dangers of herbal teas: hypertension and weakness caused by liquorice-induced apparent mineralocorticoid excess. 61
32776334 2020
31
Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery. 61
32060741 2020
32
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome. 61
31909799 2020
33
Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity. 61
32206607 2020
34
Clinical and Molecular Perspectives of Monogenic Hypertension. 61
30963979 2020
35
Apparent mineralocorticoid excess as a side effect of ketoconazole therapy in a patient with Cushing's disease. 61
31667853 2020
36
Role of glucocorticoid- and monoamine-metabolizing enzymes in stress-related psychopathological processes. 61
31322459 2020
37
Licorice induced pseudohyperaldosteronism, severe hypertension, and long QT. 61
31829973 2019
38
Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients. 61
31225872 2019
39
Downregulation of exosomal miR-192-5p and miR-204-5p in subjects with nonclassic apparent mineralocorticoid excess. 61
31775784 2019
40
Bioactive Candy: Effects of Licorice on the Cardiovascular System. 61
31615045 2019
41
ERRATUM FOR "Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome". 61
30844046 2019
42
Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy. 61
31051469 2019
43
Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature. 61
30888125 2019
44
Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome. 61
30239803 2019
45
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 61
30760291 2019
46
Recognition and Treatment of Adrenal Insufficiency Secondary to Abiraterone: A Case Report and Literature Review. 61
31390632 2019
47
Hypertensive Crisis with Neurological Impairment Mimicking a Guillain-Barrè Syndrome: Searching for a Link. 61
30298226 2018
48
Unravelling drug-induced hypertension: molecular mechanisms of aldosterone-independent mineralocorticoid receptor activation by posaconazole. 61
30289131 2018
49
Bitter experience with liquorice sweetening agent resulting in apparent mineralocorticoid excess with periodic paralysis. 61
30097547 2018
50
Spectrum of renin angiotensin aldosterone system disorders in young hypertensives. 61
30108382 2018

Variations for Apparent Mineralocorticoid Excess

ClinVar genetic disease variations for Apparent Mineralocorticoid Excess:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSD11B2 NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys) SNV Pathogenic 12094 rs28934591 GRCh37: 16:67470018-67470018
GRCh38: 16:67436115-67436115
2 HSD11B2 NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys) SNV Pathogenic 12095 rs121917781 GRCh37: 16:67470697-67470697
GRCh38: 16:67436794-67436794
3 HSD11B2 NM_000196.4(HSD11B2):c.623G>A (p.Arg208His) SNV Pathogenic 12096 rs28934592 GRCh37: 16:67470004-67470004
GRCh38: 16:67436101-67436101
4 HSD11B2 NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys) SNV Pathogenic 12098 rs28934594 GRCh37: 16:67470523-67470523
GRCh38: 16:67436620-67436620
5 HSD11B2 NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn) SNV Pathogenic 12101 rs121917833 GRCh37: 16:67470154-67470154
GRCh38: 16:67436251-67436251
6 HSD11B2 NM_000196.4(HSD11B2):c.664+14C>T SNV Pathogenic 31130 rs376023420 GRCh37: 16:67470059-67470059
GRCh38: 16:67436156-67436156
7 HSD11B2 NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His) SNV Pathogenic 31131 rs387907117 GRCh37: 16:67470700-67470700
GRCh38: 16:67436797-67436797
8 HSD11B2 NM_000196.4(HSD11B2):c.77_78del (p.Arg25_Ser26insTer) Deletion Pathogenic 31132 rs794726684 GRCh37: 16:67465228-67465229
GRCh38: 16:67431325-67431326
9 HSD11B2 NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) SNV Pathogenic 447525 rs1555518481 GRCh37: 16:67469531-67469531
GRCh38: 16:67435628-67435628
10 HSD11B2 NM_000196.4(HSD11B2):c.1020del (p.Gly341fs) Deletion Pathogenic 974390 GRCh37: 16:67470705-67470705
GRCh38: 16:67436802-67436802
11 HSD11B2 NM_000196.3(HSD11B2):c.1010_1012delGCT (p.Arg337_Tyr338delinsHis) Deletion Pathogenic 12097 rs397509434 GRCh37: 16:67470698-67470700
GRCh38: 16:67436795-67436797
12 HSD11B2 NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del) Deletion Pathogenic 12102 rs794726670 GRCh37: 16:67470581-67470583
GRCh38: 16:67436678-67436680
13 HSD11B2 NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val) SNV Likely pathogenic 974391 GRCh37: 16:67470671-67470671
GRCh38: 16:67436768-67436768
14 HSD11B2 NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) SNV Conflicting interpretations of pathogenicity 12093 rs121917780 GRCh37: 16:67470003-67470003
GRCh38: 16:67436100-67436100
15 HSD11B2 NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu) SNV Uncertain significance 1028126 GRCh37: 16:67470698-67470698
GRCh38: 16:67436795-67436795
16 HSD11B2 NM_000196.4(HSD11B2):c.272A>C (p.Asp91Ala) SNV Uncertain significance 438714 rs1356598056 GRCh37: 16:67469537-67469537
GRCh38: 16:67435634-67435634
17 HSD11B2 NM_000196.4(HSD11B2):c.220_222delinsGG (p.Arg74fs) Indel Uncertain significance 623310 rs1567529174 GRCh37: 16:67465371-67465373
GRCh38: 16:67431468-67431470
18 HSD11B2 NM_000196.4(HSD11B2):c.343_348del (p.Glu115_Leu116del) Deletion Uncertain significance 12100 rs794726669 GRCh37: 16:67469605-67469610
GRCh38: 16:67435702-67435707
19 HSD11B2 NM_000196.4(HSD11B2):c.956_964dup (p.Val322_Asp323insAlaProVal) Duplication Uncertain significance 623311 rs1567530910 GRCh37: 16:67470643-67470644
GRCh38: 16:67436740-67436741
20 HSD11B2 NM_000196.4(HSD11B2):c.710C>T (p.Ala237Val) SNV Uncertain significance 800834 rs1309642469 GRCh37: 16:67470197-67470197
GRCh38: 16:67436294-67436294
21 HSD11B2 NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) SNV Benign 36369 rs5480 GRCh37: 16:67469969-67469969
GRCh38: 16:67436066-67436066

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

72 (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

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:

36
# 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hormone stimulus GO:0032870 9.49 CYP11B2 CYP11B1
2 sterol metabolic process GO:0016125 9.48 CYP11B2 CYP11B1
3 cellular response to peptide hormone stimulus GO:0071375 9.46 CYP11B2 CYP11B1
4 C21-steroid hormone biosynthetic process GO:0006700 9.43 CYP11B2 CYP11B1
5 cellular response to potassium ion GO:0035865 9.4 CYP11B2 CYP11B1
6 intracellular steroid hormone receptor signaling pathway GO:0030518 9.37 NR3C2 NR3C1
7 cortisol biosynthetic process GO:0034651 9.32 CYP11B2 CYP11B1
8 cortisol metabolic process GO:0034650 9.26 CYP11B2 CYP11B1
9 aldosterone biosynthetic process GO:0032342 9.16 CYP11B2 CYP11B1
10 regulation of blood volume by renal aldosterone GO:0002017 8.96 HSD11B2 CYP11B2
11 glucocorticoid biosynthetic process GO:0006704 8.92 HSD11B2 HSD11B1 CYP11B2 CYP11B1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 HSD11B2 HSD11B1 CYP11B2 CYP11B1
2 corticosterone 18-monooxygenase activity GO:0047783 9.26 CYP11B2 CYP11B1
3 steroid 11-beta-monooxygenase activity GO:0004507 9.16 CYP11B2 CYP11B1
4 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity GO:0003845 8.96 HSD11B2 HSD11B1
5 steroid binding GO:0005496 8.92 NR3C2 NR3C1 HSD11B2 HSD11B1

Sources for Apparent Mineralocorticoid Excess

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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