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AME
MCID: APP015
MIFTS: 56

Apparent Mineralocorticoid Excess (AME)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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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 19 58 75 73 28 5 38 71
Cortisol 11-Beta-Ketoreductase Deficiency 57 11 19 73 71
Apparent Mineralocorticoid Excess Syndrome 11 14 16 75
Ame 57 19 73
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 11 58
Mineralocorticoid Excess Syndrome, Apparent 43 71
Ulick Syndrome 11 58
Ame1 57 73
11 Beta Hydroxysteroid Dehydrogenase Type 2 Deficiency 75
Syndrome of Apparent Mineralocorticoid Excess 11
Ame 1 19

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
onset usually in infancy or childhood
favorable response to spironolactone


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Cardiovascular diseases Nephrological diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare endocrine diseases


External Ids:

Disease Ontology 11 DOID:4367
OMIM® 57 218030
MeSH 43 D043204
NCIt 49 C123231
SNOMED-CT 68 237770005
MESH via Orphanet 44 C537422 D043204
ICD10 via Orphanet 32 E26.1
UMLS via Orphanet 72 C0342488 C2936861 C3887949
Orphanet 58 ORPHA320
UMLS 71 C0342488 C2936861 C3887949
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Summaries for Apparent Mineralocorticoid Excess

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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 08-Dec-2022)

MalaCards based summary: Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to hypertensive retinopathy and hypoaldosteronism. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2), and among its related pathways/superpathways are Metabolism of steroids and ACE Inhibitor Pathway, Pharmacodynamics. The drugs Licorice and Enoxolone have been mentioned in the context of this disorder. Affiliated tissues include kidney, placenta and prostate, and related phenotypes are hypertension and hypokalemia

Disease Ontology: 11 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: 73 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.

GARD: 19 A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

Orphanet: 58 A rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.

Wikipedia: 75 Apparent mineralocorticoid excess is an autosomal recessive disorder causing hypertension (high blood... 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:

(showing 158, show less)
# Related Disease Score Top Affiliating Genes
1 hypertensive retinopathy 30.8 REN NR3C2
2 hypoaldosteronism 30.6 REN POMC CYP11B2
3 nephrocalcinosis 30.3 SLC12A3 KCNJ1 HSD11B2
4 tricuspid valve insufficiency 30.3 REN NR3C2
5 adenoma 29.7 REN POMC HSD11B2 CYP11B2 CYP11B1
6 cortisone reductase deficiency 29.5 POMC HSD11B2 HSD11B1 CYP11B2 CYP11B1
7 hypokalemia 29.3 WNK4 SLC12A3 REN POMC NR3C2 KCNJ1
8 lipoid congenital adrenal hyperplasia 28.8 SCNN1B REN POMC NR3C2 HSD11B2 HSD11B1
9 adrenal adenoma 28.8 REN POMC NR3C2 HSD11B2 HSD11B1 CYP11B2
10 pseudohypoaldosteronism 28.6 WNK4 SLC12A3 SCNN1B REN NR3C2 KCNJ1
11 hyperaldosteronism, familial, type i 28.5 WNK4 SCNN1B REN POMC NR3C2 HSD11B2
12 hypertension, essential 27.8 WNK4 SLC12A3 SCNN1B REN POMC NR3C2
13 liddle syndrome 1 27.8 WNK4 SLC12A3 SCNN1B REN POMC NR3C2
14 conn's syndrome 27.6 WNK4 SLC12A3 SCNN1B REN POMC NR3C2
15 hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 10.7
16 supine hypotensive syndrome 10.2 REN NR3C2
17 hypothyroidism 10.2
18 pituitary-dependent cushing's disease 10.2
19 left bundle branch hemiblock 10.2 REN NR3C2
20 diastolic heart failure 10.2 REN NR3C2
21 malignant secondary hypertension 10.2 REN CYP11B2
22 systolic heart failure 10.2 REN NR3C2
23 corticosteroid-binding globulin deficiency 10.1 POMC HSD11B2
24 premenstrual tension 10.1 REN POMC
25 central pontine myelinolysis 10.1 REN POMC
26 mitral valve stenosis 10.1 REN NR3C2
27 atypical depressive disorder 10.1 POMC NR3C2
28 alzheimer disease 16 10.1 POMC ENSG00000275987
29 cortisone reductase deficiency 2 10.1 POMC HSD11B1
30 renovascular hypertension 10.1 REN NR3C2
31 anuria 10.1 REN NR3C2 HSD11B2
32 diabetes insipidus, neurohypophyseal 10.1 REN POMC
33 tricuspid valve disease 10.1 REN NR3C2
34 inappropriate adh syndrome 10.1 REN POMC
35 postpartum depression 10.1 POMC HSD11B2
36 intracranial hypertension, idiopathic 10.1 POMC HSD11B1
37 acromegaly 10.1
38 pituitary adenoma 10.1
39 hypertensive heart disease 10.1 REN NR3C2 CYP11B2
40 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 POMC CYP11B1
41 mitral valve insufficiency 10.1 REN NR3C2
42 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
43 cystic fibrosis 10.0
44 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
45 ventricular fibrillation, paroxysmal familial, 1 10.0
46 cortisone reductase deficiency 1 10.0
47 premature ovarian failure 7 10.0
48 glucocorticoid resistance, generalized 10.0
49 cardiac arrest 10.0
50 pre-eclampsia 10.0
51 diarrhea 10.0
52 cystic kidney disease 10.0
53 liver cirrhosis 10.0
54 kidney disease 10.0
55 chronic fatigue syndrome 10.0
56 children's interstitial lung disease 10.0
57 oto-palatal-digital syndrome 10.0
58 periodic paralysis 10.0
59 chronic bilirubin encephalopathy 10.0
60 adult syndrome 10.0 REN POMC HSD11B2
61 adrenal cortical hypofunction 10.0 REN POMC
62 apnea, obstructive sleep 10.0 REN POMC NR3C2
63 persistent fetal circulation syndrome 10.0 POMC HSD11B2
64 congestive heart failure 10.0 REN NR3C2 CYP11B2
65 intracranial hypertension 10.0 REN POMC HSD11B1
66 ocular motor apraxia 10.0
67 hypomagnesemia 3, renal 10.0 SLC12A3 KCNJ1
68 lung cancer 10.0
69 graves disease 1 10.0
70 meningoencephalitis 10.0
71 thyroid carcinoma 10.0
72 renal hypertension 10.0 REN NR3C2
73 hypoadrenocorticism, familial 10.0 REN POMC CYP11B2
74 adrenal cortical adenoma 9.9 REN POMC CYP11B1
75 bartter syndrome, type 1, antenatal 9.9 SLC12A3 KCNJ1
76 adrenal rest tumor 9.9 POMC CYP11B2 CYP11B1
77 acth-independent macronodular adrenal hyperplasia 9.9 POMC CYP11B2 CYP11B1
78 primary pigmented nodular adrenocortical disease 9.9 POMC CYP11B2 CYP11B1
79 carney complex variant 9.9 POMC CYP11B2 CYP11B1
80 chondrocalcinosis 9.9 SLC12A3 REN
81 46,xy sex reversal 9.9 POMC CYP11B2 CYP11B1
82 mitral valve disease 9.9 REN NR3C2
83 bartter syndrome, type 3 9.9 SLC12A3 REN KCNJ1
84 cardiovascular system disease 9.9 REN NR3C2 HSD11B1 CYP11B2
85 hypokalemic periodic paralysis, type 1 9.8 SLC12A3 REN KCNJ1
86 nephrogenic diabetes insipidus 9.8 SLC12A3 REN KCNJ1
87 polyhydramnios 9.8 SLC12A3 REN KCNJ1
88 burkitt lymphoma 9.8
89 keratitis, hereditary 9.8
90 osteoporosis 9.8
91 pheochromocytoma 9.8
92 small cell cancer of the lung 9.8
93 adrenocortical carcinoma, hereditary 9.8
94 ataxia with vitamin e deficiency 9.8
95 arts syndrome 9.8
96 leukemia, chronic myeloid 9.8
97 human immunodeficiency virus type 1 9.8
98 bone mineral density quantitative trait locus 8 9.8
99 acute promyelocytic leukemia 9.8
100 bone mineral density quantitative trait locus 15 9.8
101 multinodular goiter 9.8
102 sleep apnea 9.8
103 follicular lymphoma 9.8
104 lymphoma 9.8
105 rickets 9.8
106 primary hyperparathyroidism 9.8
107 goiter 9.8
108 neutropenia 9.8
109 spinal muscular atrophy 9.8
110 hyperparathyroidism 9.8
111 toxic shock syndrome 9.8
112 pulmonary tuberculosis 9.8
113 testicular cancer 9.8
114 plague 9.8
115 arthropathy 9.8
116 nutritional deficiency disease 9.8
117 pituitary gland disease 9.8
118 prolactinoma 9.8
119 cerebrovascular disease 9.8
120 muscular atrophy 9.8
121 hyperthyroidism 9.8
122 myeloid leukemia 9.8
123 amebiasis 9.8
124 diabetes mellitus 9.8
125 hypopituitarism 9.8
126 meningitis 9.8
127 48,xyyy 9.8
128 growth hormone deficiency 9.8
129 klebsiella infection 9.8
130 primary agammaglobulinemia 9.8
131 back pain 9.8
132 pituitary tumors 9.8
133 gastroenteropancreatic neuroendocrine neoplasm 9.8
134 bartter syndrome, type 2, antenatal 9.8 SCNN1B KCNJ1
135 disorder of sexual development 9.8 REN POMC NR3C2 CYP11B1
136 renal tubular acidosis 9.8 WNK4 SLC12A3 REN
137 lipid metabolism disorder 9.8 REN POMC HSD11B1 CYP11B1
138 corticosterone methyloxidase type i deficiency 9.8 REN POMC CYP11B2 CYP11B1
139 familial glucocorticoid deficiency 9.8 REN POMC CYP11B2 CYP11B1
140 adrenal cortex disease 9.8 REN POMC CYP11B2 CYP11B1
141 hyperchlorhidrosis, isolated 9.8 SCNN1B POMC NR3C2
142 miliaria 9.7 SLC12A3 SCNN1B NR3C2
143 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.7 WNK4 SLC12A3 KCNJ1
144 body mass index quantitative trait locus 11 9.7 REN POMC NR3C2 HSD11B2 HSD11B1
145 adrenal cortical carcinoma 9.6 REN POMC HSD11B2 CYP11B2 CYP11B1
146 endocrine organ benign neoplasm 9.6 REN POMC NR3C2 CYP11B2 CYP11B1
147 adrenal carcinoma 9.6 REN POMC NR3C2 CYP11B2 CYP11B1
148 metabolic acidosis 9.6 WNK4 SCNN1B REN
149 gitelman syndrome 9.6 WNK4 SLC12A3 REN KCNJ1
150 pseudohypoaldosteronism, type i, autosomal dominant 9.5 WNK4 SCNN1B REN NR3C2
151 miliaria rubra 9.4 WNK4 SLC12A3 SCNN1B NR3C2
152 steroid inherited metabolic disorder 9.3 REN POMC NR3C2 HSD11B2 HSD11B1 CYP11B2
153 mineral metabolism disease 9.3 SLC12A3 REN POMC NR3C2 KCNJ1 CYP11B2
154 pseudohypoaldosteronism, type ib1, autosomal recessive 9.3 WNK4 SCNN1B REN NR3C2 KCNJ1
155 bartter disease 9.1 WNK4 SLC12A3 SCNN1B REN KCNJ1
156 adrenal gland disease 9.1 SLC12A3 REN POMC NR3C2 HSD11B2 HSD11B1
157 arthrogryposis, distal, type 3 9.0 WNK4 SLC12A3 SCNN1B REN NR3C2 KCNJ1
158 renal tubular transport disease 9.0 WNK4 SLC12A3 SCNN1B REN NR3C2 KCNJ1

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



Diseases related to Apparent Mineralocorticoid Excess
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Symptoms & Phenotypes for Apparent Mineralocorticoid Excess

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Human phenotypes related to Apparent Mineralocorticoid Excess:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

45 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.96 CYP11B1 CYP11B2 HSD11B2 KCNJ1 NR3C2 POMC
2 homeostasis/metabolism MP:0005376 9.7 CYP11B1 CYP11B2 HSD11B1 HSD11B2 KCNJ1 NR3C2
3 muscle MP:0005369 9.63 CYP11B1 CYP11B2 HSD11B1 HSD11B2 NR3C2 REN
4 cardiovascular system MP:0005385 9.36 CYP11B1 CYP11B2 HSD11B1 HSD11B2 KCNJ1 NR3C2
Sources

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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

(showing 9, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Licorice Approved Phase 2, Phase 3
2
Enoxolone Investigational Phase 2, Phase 3 471-53-4 3230 18526330 10114
3 Mineralocorticoids Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5
Hydrocortisone succinate Approved 2203-97-6 3643
6
Hydrocortisone acetate Approved, Vet_approved 50-03-3
7
Hydrocortisone Approved, Vet_approved 50-23-7 3640 5754
8
Cortisone Experimental 53-06-5 222786
9 Hydrocortisone 17-butyrate 21-propionate

Interventional clinical trials:

(showing 3, show less)
# 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 Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol Completed NCT00474942
3 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

Sources

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 28 HSD11B2
Sources

Anatomical Context for Apparent Mineralocorticoid Excess

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Organs/tissues related to Apparent Mineralocorticoid Excess:

MalaCards : Kidney, Placenta, Prostate, Colon, Liver, Skin, Brain
Sources

Publications for Apparent Mineralocorticoid Excess

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Articles related to Apparent Mineralocorticoid Excess:

(showing 369, show less)
# Title Authors PMID Year
1
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. 62 57 5
17314322 2007
2
Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess. 62 57 5
9683587 1998
3
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. 62 57 5
7670488 1995
4
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. 62 57 5
7608290 1995
5
Congenital 11 beta-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolite profiles of four patients and their families. 57 5
3860318 1985
6
The role of 11β-hydroxysteroid dehydrogenase type 2 in human hypertension. 62 57
19909806 2010
7
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. 62 5
15126515 2004
8
Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 62 5
12788846 2003
9
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. 62 57
10523339 1999
10
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. 62 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. 62 5
9851783 1998
12
A genetic defect resulting in mild low-renin hypertension. 62 57
9707624 1998
13
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. 62 5
9398712 1997
14
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. 62 5
7593456 1995
15
Apparent mineralocorticoid excess type II. 62 57
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. 62 57
8370690 1993
17
Pathogenesis of the type 2 variant of the syndrome of apparent mineralocorticoid excess. 62 57
2403571 1990
18
Syndrome of apparent mineralocorticoid excess. A defect in the cortisol-cortisone shuttle. 62 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. 62 57
3460996 1986
20
A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. 62 57
226561 1979
21
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 5
33532864 2022
22
Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. 57
870517 1977
23
Gene expression in cell lines from human ameloblastoma immortalized using hTERT and HPV16-E6/E7. 62
34060687 2022
24
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics. 62
36329487 2022
25
Gelation of konjac glucomannan by acetylmannan esterases from Aspergillus oryzae. 62
35691189 2022
26
Clinical, biochemical, and miRNA profile of subjects with positive screening of primary aldosteronism and nonclassic apparent mineralocorticoid excess. 62
35676467 2022
27
Monogenic forms of low-renin hypertension: clinical and molecular insights. 62
34414500 2022
28
Apparent mineralocorticoid excess: A diagnosis beyond classical causes of severe hypertension in a child. 62
35044984 2022
29
[Clinical and HSD11B2 gene analysis of a patient with apparent mineralocorticoid excess]. 62
35488644 2022
30
Antifungal Therapy with Azoles Induced the Syndrome of Acquired Apparent Mineralocorticoid Excess: a Literature and Database Analysis. 62
34662186 2022
31
Cytotoxic Effects of Alternariol, Alternariol Monomethyl-Ether, and Tenuazonic Acid and Their Relevant Combined Mixtures on Human Enterocytes and Hepatocytes. 62
35531275 2022
32
Aging-related features predict prognosis and immunotherapy efficacy in hepatocellular carcinoma. 62
36189258 2022
33
Kinetochore Architecture Employs Diverse Linker Strategies Across Evolution. 62
35800888 2022
34
Extending the endocrine hypertension spectrum: novel nonclassic apparent mineralocorticoid excess. 62
34101110 2021
35
Novel metabolomic profile of subjects with non-classic apparent mineralocorticoid excess. 62
34433879 2021
36
A life-threatening case of pseudo-aldosteronism secondary to excessive liquorice ingestion. 62
34362360 2021
37
Cdc4 phospho-degrons allow differential regulation of Ame1CENP-U protein stability across the cell cycle. 62
34308839 2021
38
Abnormal neonatal sodium handling in skin precedes hypertension in the SAME rat. 62
34028587 2021
39
Impaired Distal Tubular Acidification, Renal Cysts and Nephrocalcinosis in Monogenic Hypertension. 62
33236328 2021
40
ERRATUM FOR: "Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome". 62
33438719 2021
41
Species-specific differences in the inhibition of 11β-hydroxysteroid dehydrogenase 2 by itraconazole and posaconazole. 62
33387577 2021
42
HIF-1α Is Associated with Resistance to Hypoxia-Induced Apoptosis in Ameloblastoma. 62
34987583 2021
43
Detection of Urinary Exosomal HSD11B2 mRNA Expression: A Useful Novel Tool for the Diagnostic Approach of Dysfunctional 11β-HSD2-Related Hypertension. 62
34497581 2021
44
Bridgin connects the outer kinetochore to centromeric chromatin. 62
33420015 2021
45
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia. 62
32816205 2020
46
Apparent Mineralocorticoid Excess: Research as an Art Form. 62
32990924 2020
47
Posaconazole-Induced Apparent Mineralocorticoid Excess. 62
33305136 2020
48
Trick or Treat? Licorice-Induced Hypokalemia: A Case Report. 62
33391895 2020
49
Licorice-induced apparent mineralocorticoid excess causing persistent hypertension and hypokalemia. 62
34084245 2020
50
The dangers of herbal teas: hypertension and weakness caused by liquorice-induced apparent mineralocorticoid excess. 62
32776334 2020
51
Auto-inhibition of Mif2/CENP-C ensures centromere-dependent kinetochore assembly in budding yeast. 62
32515113 2020
52
Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery. 62
32060741 2020
53
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome. 62
31909799 2020
54
Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity. 62
32206607 2020
55
Clinical and Molecular Perspectives of Monogenic Hypertension. 62
30963979 2020
56
Apparent mineralocorticoid excess as a side effect of ketoconazole therapy in a patient with Cushing's disease. 62
31667853 2020
57
Role of glucocorticoid- and monoamine-metabolizing enzymes in stress-related psychopathological processes. 62
31322459 2020
58
Licorice induced pseudohyperaldosteronism, severe hypertension, and long QT. 62
31829973 2019
59
Downregulation of exosomal miR-192-5p and miR-204-5p in subjects with nonclassic apparent mineralocorticoid excess. 62
31775784 2019
60
Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients. 62
31225872 2019
61
Bioactive Candy: Effects of Licorice on the Cardiovascular System. 62
31615045 2019
62
The COMA complex interacts with Cse4 and positions Sli15/Ipl1 at the budding yeast inner kinetochore. 62
31112132 2019
63
Hypertension due to a deoxycorticosterone-secreting adrenal tumour diagnosed during pregnancy. 62
31051469 2019
64
ERRATUM FOR "Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome". 62
30844046 2019
65
Apparent Mineralocorticoid Excess in the Pediatric Population: Report of a Novel Pathogenic Variant of the 11β-HSD2 Gene and Systematic Review of the Literature. 62
30888125 2019
66
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. 62
30760291 2019
67
Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome. 62
30239803 2019
68
The kinetochore module Okp1CENP-Q/Ame1CENP-U is a reader for N-terminal modifications on the centromeric histone Cse4CENP-A. 62
30389668 2019
69
Recognition and Treatment of Adrenal Insufficiency Secondary to Abiraterone: A Case Report and Literature Review. 62
31390632 2019
70
Hypertensive Crisis with Neurological Impairment Mimicking a Guillain-Barrè Syndrome: Searching for a Link. 62
30298226 2018
71
Unravelling drug-induced hypertension: molecular mechanisms of aldosterone-independent mineralocorticoid receptor activation by posaconazole. 62
30289131 2018
72
Bitter experience with liquorice sweetening agent resulting in apparent mineralocorticoid excess with periodic paralysis. 62
30097547 2018
73
Spectrum of renin angiotensin aldosterone system disorders in young hypertensives. 62
30108382 2018
74
Refractory Hypokalemia from Syndrome of Apparent Mineralocorticoid Excess on Low-Dose Posaconazole. 62
29661880 2018
75
Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency. 62
29617893 2018
76
Itraconazole induced hypertension and hypokalemia: Mechanistic evaluation. 62
29385285 2018
77
Posaconazole-Induced Pseudohyperaldosteronism. 62
29530850 2018
78
A Young Patient with Leg Weakness and Hypokalemia-Case Report. 62
29514039 2018
79
Licorice-induced apparent mineralocorticoid excess compounded by excessive use of terbutaline and high water intake. 62
29674401 2018
80
Alterations of Cortisol Metabolism in Human Disorders. 62
29843121 2018
81
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency. 62
29229831 2017
82
Molecular basis for inner kinetochore configuration through RWD domain-peptide interactions. 62
29046335 2017
83
11β-HSD2 SUMOylation Modulates Cortisol-Induced Mineralocorticoid Receptor Nuclear Translocation Independently of Effects on Transactivation. 62
28938454 2017
84
Glucocorticoids and gut bacteria: "The GALF Hypothesis" in the metagenomic era. 62
28624548 2017
85
In Vivo 11β-Hydroxysteroid Dehydrogenase Inhibition in Posaconazole-Induced Hypertension and Hypokalemia. 62
28533238 2017
86
Renal Dysfunction Induced by Kidney-Specific Gene Deletion of Hsd11b2 as a Primary Cause of Salt-Dependent Hypertension. 62
28559392 2017
87
Recent advances in the study of 11β-Hydroxysteroid dehydrogenase type 2 (11β-HSD2)Inhibitors. 62
28366868 2017
88
Apparent mineralocorticoid excess caused by a novel mutation in 11β-hydroxysteroid dehydrogenase type 2 gene. 62
28121843 2017
89
Liquorice-induced apparent mineralocorticoid excess presenting in the emergency department. 62
28148579 2017
90
Apparent mineralocorticoid excess. 62
26956190 2017
91
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. 62
26892095 2017
92
Apparent Mineralocorticoid Excess Syndrome: A Case of Resistant Hypertension From Licorice Tea Consumption. 62
27251761 2016
93
Syndromes that Mimic an Excess of Mineralocorticoids. 62
27251484 2016
94
Prospective validation of an automated chemiluminescence-based assay of renin and aldosterone for the work-up of arterial hypertension. 62
26824982 2016
95
Cortisol/cortisone ratio and matrix metalloproteinase-9 activity are associated with pediatric primary hypertension. 62
27488551 2016
96
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. 62
27526338 2016
97
Conditional Deletion of Hsd11b2 in the Brain Causes Salt Appetite and Hypertension. 62
26951843 2016
98
Androgen Receptor Modulation Optimized for Response (ARMOR) Phase I and II Studies: Galeterone for the Treatment of Castration-Resistant Prostate Cancer. 62
26527750 2016
99
Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess. 62
29067160 2016
100
Mineralocorticoid Excess or Glucocorticoid Insufficiency: Renal and Metabolic Phenotypes in a Rat Hsd11b2 Knockout Model. 62
26077568 2015
101
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. 62
26126204 2015
102
Hypertrophy in the Distal Convoluted Tubule of an 11β-Hydroxysteroid Dehydrogenase Type 2 Knockout Model. 62
25349206 2015
103
The Dehydrogenase Hypothesis. 62
26216003 2015
104
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. 62
25593612 2015
105
Renal Cysts and Nephrocalcinosis in a Patient Deficient in 11 beta-Hydroxylase Enzyme. 62
26309449 2015
106
[Cardiac arrest with syndrome of apparent mineralocorticoid excess]. 62
25497610 2014
107
EGFR signaling downstream of EGF regulates migration, invasion, and MMP secretion of immortalized cells derived from human ameloblastoma. 62
25099616 2014
108
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-β Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. 62
24936560 2014
109
A case of iatrogenic Cushing syndrome and apparent mineralocorticoid excess presenting with accelerated hypertension and proteinuria. 62
25201428 2014
110
A cooperative mechanism drives budding yeast kinetochore assembly downstream of CENP-A. 62
25135934 2014
111
Approach to metabolic alkalosis. 62
24766943 2014
112
Cortisol and cortisone ratio in urine: LC-MS/MS method validation and preliminary clinical application. 62
24391193 2014
113
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. 62
23945123 2014
114
Insulin, CCAAT/enhancer-binding proteins and lactate regulate the human 11β-hydroxysteroid dehydrogenase type 2 gene expression in colon cancer cell lines. 62
25133511 2014
115
Lethal liquorice lollies (liquorice abuse causing pseudohyperaldosteronism). 62
24051150 2013
116
11β-Hydroxysteroid dehydrogenase type 2 in hypertension: comparison of phenotype and genotype analysis. 62
23303402 2013
117
11β-hydroxysteroid dehydrogenases: intracellular gate-keepers of tissue glucocorticoid action. 62
23899562 2013
118
Phosphorylation of centromeric histone H3 variant regulates chromosome segregation in Saccharomyces cerevisiae. 62
23637466 2013
119
Inherited secondary nephrogenic diabetes insipidus: concentrating on humans. 62
23364801 2013
120
Apparent mineralocorticoid excess (AME) syndrome. 62
23665601 2013
121
Comparative in vitro antifungal susceptibility activity of amphotericin B versus amphotericin B methyl ester against Candida albicans ocular isolates. 62
22788845 2012
122
11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension. 62
22932914 2012
123
Monogenic forms of hypertension. 62
21404100 2012
124
Low renin hypertension. 62
23087856 2012
125
Failure to downregulate the epithelial sodium channel causes salt sensitivity in Hsd11b2 heterozygote mice. 62
22777941 2012
126
A urine-concentrating defect in 11β-hydroxysteroid dehydrogenase type 2 null mice. 62
22622456 2012
127
Licorice-related rhabdomyolysis: a big price for a sweet tooth. 62
22595392 2012
128
[Liquorice-induced hypertension and hypokalaemia]. 62
22487411 2012
129
RWD domain: a recurring module in kinetochore architecture shown by a Ctf19-Mcm21 complex structure. 62
22322944 2012
130
A salty cause of severe hypertension. 62
22665565 2012
131
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. 62
23329753 2012
132
Mineralocorticoid hypertension. 62
22145132 2011
133
Environmental inhibitors of 11β-hydroxysteroid dehydrogenase type 2. 62
21515335 2011
134
Apparent mineralocorticoid excess: time of manifestation and complications despite treatment. 62
21536617 2011
135
Inherited forms of mineralocorticoid hypertension. 62
21494136 2011
136
Apparent mineralocorticoid excess - update. 62
21691952 2011
137
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. 62
21042587 2010
138
Steroid measurement with LC-MS/MS. Application examples in pediatrics. 62
20036331 2010
139
In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence. 62
20571110 2010
140
Pivotal role of the kidney in hypertension. 62
20610969 2010
141
A practical approach to genetic hypokalemia. 62
21468196 2010
142
Aldosterone-producing adenoma and other surgically correctable forms of primary aldosteronism. 62
20482833 2010
143
Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases. 62
20733335 2010
144
Heritable forms of hypertension. 62
17647025 2009
145
The COMA complex is required for Sli15/INCENP-mediated correction of defective kinetochore attachments. 62
19597337 2009
146
Human saliva cortisone and cortisol simultaneous analysis using reverse phase HPLC technique. 62
19393639 2009
147
Shakuyaku-kanzo-to induces pseudoaldosteronism characterized by hypokalemia, rhabdomyolysis, metabolic alkalosis with respiratory compensation, and increased urinary cortisol levels. 62
19388868 2009
148
Hyperaldosteronism in pregnancy. 62
19171690 2009
149
[Rhabdomyolysis with major hypokalemia secondary to chronic glycyrrhizic acid ingestion]. 62
18486280 2009
150
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. 62
19169481 2008
151
[Contribution of monogenic hypertension models to understanding of other hypertensions]. 62
18448411 2008
152
Diagnosis of hypokalemia: a problem-solving approach to clinical cases. 62
19377223 2008
153
Ybp2 associates with the central kinetochore of Saccharomyces cerevisiae and mediates proper mitotic progression. 62
18286174 2008
154
Two elderly patients with mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) impairment. 62
18379150 2008
155
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. 62
18032795 2008
156
[11beta-hydroxysteroide dehydrogenases. Recent advances]. 62
17368420 2007
157
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. 62
17516565 2007
158
[From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids]. 62
17447595 2007
159
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. 62
17198920 2007
160
Mineralocorticoid hypertension and hypokalemia. 62
17275580 2006
161
Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. 62
17035606 2006
162
Cortisol metabolism in hypertension. 62
16980198 2006
163
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. 62
16684821 2006
164
Isolation and partial sequencing of cDNA clones from rat incisor after Nd:YAG laser irradiation in root canal. 62
16430856 2006
165
[Deficiency of 11beta-hydroxysteroid dehydrogenase type 2 (syndrome of apparent mineralocorticoid excess)]. 62
16776240 2006
166
[Genetics and arterial hypertension: monogenic forms]. 62
16868910 2006
167
Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations. 62
16778331 2006
168
[Apparent mineralocorticoid excess syndrome]. 62
16722433 2006
169
Determination of free tetrahydrocortisol and tetrahydrocortisone ratio in urine by liquid chromatography-tandem mass spectrometry. 62
16537248 2006
170
Spindle checkpoint maintenance requires Ame1 and Okp1. 62
16177574 2005
171
11beta-hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action. 62
16079253 2005
172
Interactions between 11beta-hydroxysteroid dehydrogenase and COX-2 in kidney. 62
15718388 2005
173
Renal cysts and nephrocalcinosis in a patient with Bartter syndrome type III. 62
15717167 2005
174
[Measurement of free urinary cortisol and cortisone using liquid chromatography associated with tandem mass spectrometry method]. 62
16184259 2005
175
Monogenic low renin hypertension. 62
15808805 2005
176
11beta-Hydroxysteroid dehydrogenase type 2 activity is associated with left ventricular mass in essential hypertension. 62
15618035 2005
177
[Syndrome of apparent mineralocorticoid excess]. 62
15813085 2005
178
Apparent mineralocorticoid excess syndrome: an overview. 62
15761540 2004
179
Cortisol, 11beta-hydroxysteroid dehydrogenases, and hypertension. 62
15478032 2004
180
Impaired 11-beta hydroxysteroid dehydrogenase type 2 activity in sweat gland ducts in human essential hypertension. 62
14981055 2004
181
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. 62
15134813 2004
182
Distinction between Liddle syndrome and apparent mineralocorticoid excess. 62
14625721 2004
183
Characterisation of 11 beta-hydroxysteroid dehydrogenases in feline kidney and liver. 62
14732482 2004
184
c-Met expression in a gastric cancer cell line producing alpha-fetoprotein. 62
14745610 2004
185
Hypertension and adrenal disorders. 62
14594571 2003
186
Mendelian forms of human hypertension and mechanisms of disease. 62
15931322 2003
187
Mendelian hypertension with brachydactyly as a molecular genetic lesson in regulatory physiology. 62
12959913 2003
188
Tissue-specific Cushing's syndrome, 11beta-hydroxysteroid dehydrogenases and the redefinition of corticosteroid hormone action. 62
12943516 2003
189
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. 62
12860834 2003
190
Genetics of the kidney and hypertension. 62
12724062 2003
191
The distinction between Liddle syndrome and apparent mineralocorticoid excess. 62
12759812 2003
192
Pseudohyperaldosteronism: pathogenetic mechanisms. 62
12892318 2003
193
Hypertension and the cortisol-cortisone shuttle. 62
12788832 2003
194
Investigating mineralocorticoid hypertension. 62
12929904 2003
195
[Monogenic hypertension]. 62
12715144 2003
196
[Monogenic hypertension]. 62
15058025 2003
197
Screening for genetic causes of hypertension. 62
12419172 2002
198
Hypertension in congenital adrenal hyperplasia and apparent mineralocorticoid excess. 62
12381549 2002
199
Validation of a high-throughput liquid chromatography-tandem mass spectrometry method for urinary cortisol and cortisone. 62
12194928 2002
200
Furosemide and 11beta-hydroxysteroid dehydrogenase activity, in man. 62
12373630 2002
201
The molecular basis of hypertension. 62
12405428 2002
202
Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy. 62
11916625 2002
203
[Rhabdomyolysis and arterial hypertension caused by apparent excess of mineralocorticoids: a case report]. 62
12150047 2002
204
Monogenic forms of human hypertension. 62
11891501 2002
205
Genetics of the mineralocorticoid system in primary hypertension. 62
11790287 2002
206
Pathophysiology of adrenal hypertension. 62
11785068 2002
207
[Genetics and arterial hypertension: 3 approaches to decode a complex disease]. 62
14556576 2002
208
Liddle syndrome: genetics and mechanisms of Na+ channel defects. 62
11780687 2001
209
11beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess. 62
11780688 2001
210
Reduced placental 11beta-hydroxysteroid dehydrogenase type 2 mRNA levels in human pregnancies complicated by intrauterine growth restriction: an analysis of possible mechanisms. 62
11600574 2001
211
Intrarenal transport and vasoactive substances in hypertension. 62
11566943 2001
212
Possible association but no linkage of the HSD11B2 gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase to hypertension in Black people. 62
11531933 2001
213
Assessing systemic 11beta-hydroxysteroid dehydrogenase with serum cortisone/cortisol ratios in healthy subjects and patients with diabetes mellitus and chronic renal failure. 62
11436185 2001
214
Endothelin 1 type a receptor antagonism prevents vascular dysfunction and hypertension induced by 11beta-hydroxysteroid dehydrogenase inhibition: role of nitric oxide. 62
11425780 2001
215
Molecular genetics of salt-sensitivity and hypertension. 62
11259340 2001
216
Apparent mineralocorticoid excess. 62
11306334 2001
217
A mutation in the cofactor-binding domain of 11beta-hydroxysteroid dehydrogenase type 2 associated with mineralocorticoid hypertension. 62
11238516 2001
218
Phenotypic analysis of mice bearing targeted deletions of 11beta-hydroxysteroid dehydrogenases 1 and 2 genes. 62
11165006 2001
219
Resistance to multiple steroids in two sisters. 62
11384874 2001
220
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. 62
11227727 2001
221
Juvenile hypertension, the role of genetically altered steroid metabolism. 62
11740142 2001
222
Association between a variant in the 11 beta-hydroxysteroid dehydrogenase type 2 gene and primary hypertension. 62
11114699 2000
223
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. 62
11154148 2000
224
Genotype-phenotype correlations of mutations and polymorphisms in HSD11B2, the gene encoding the kidney isozyme of 11beta-hydroxysteroid dehydrogenase. 62
11196453 2000
225
Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. 62
11095013 2000
226
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. 62
11202632 2000
227
CA-Repeat polymorphism in intron 1 of HSD11B2 : effects on gene expression and salt sensitivity. 62
10948076 2000
228
Does kidney transplantation normalise cortisol metabolism in apparent mineralocorticoid excess syndrome? 62
11005270 2000
229
Low-renin hypertension: more common than we think? 62
11174896 2000
230
Aldosterone-related genetic effects in hypertension. 62
10981163 2000
231
Liquorice and its health implications. 62
10944880 2000
232
Role of the 11beta-hydroxysteroid dehydrogenase type 2 in blood pressure regulation. 62
10760070 2000
233
The role of the 11beta-hydroxysteroid dehydrogenase type 2 in human hypertension. 62
10726708 2000
234
An isozyme of the NADP-malic enzyme of a CAM plant, Aloe arborescens, with variation on conservative amino acid residues. 62
10675616 2000
235
[Molecular genetics of essential hypertension. Susceptibility and resistance genes]. 62
10835701 2000
236
[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]. 62
10883518 2000
237
Prevalence of mild apparent mineralocorticoid excess in Mennonites. 62
10599743 1999
238
Resistance to several steroids in two sisters. 62
10599702 1999
239
[Mineralocorticoid-like hypertension. "Apparent mineralocorticoid excess". A hereditary type of hypertension?]. 62
10578695 1999
240
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. 62
10489390 1999
241
[Low-renin hypertension and inherited mineralocorticoid diseases]. 62
10573960 1999
242
Hypertension. 62
10435675 1999
243
The 11beta-hydroxysteroid dehydrogenases: functions and physiological effects. 62
10411326 1999
244
The type I and type II 11beta-hydroxysteroid dehydrogenase enzymes. 62
10419017 1999
245
Mineralocorticoid hypertension. 62
10218547 1999
246
The epithelial sodium channel in hypertension. 62
10981060 1999
247
Hypertension in mice lacking 11beta-hydroxysteroid dehydrogenase type 2. 62
10074485 1999
248
[11 beta-hydroxysteroid-dehydrogenase: characteristics and the clinical significance of a key enzyme in cortisol metabolism]. 62
10321259 1999
249
Life-threatening ventricular tachycardia due to liquorice-induced hypokalaemia. 62
10205594 1999
250
Liquorice, growth retardation and Addison's disease. 62
10844416 1999
251
[Molecular genetics of hypertension in the human]. 62
10067128 1999
252
[Tubular hypokalemia of genetic origin]. 62
10592935 1999
253
Administration of glycyrrhetinic acid: significant correlation between serum levels and the cortisol/cortisone-ratio in serum and urine. 62
10543414 1999
254
Hyper- and hypoaldosteronism. 62
10232050 1999
255
11 beta-Hydroxysteroid dehydrogenase. 62
10232052 1999
256
Molecular genetics of human hypertension. 62
9886871 1998
257
Cure of apparent mineralocorticoid excess by kidney transplantation. 62
9867558 1998
258
Structural analysis and evaluation of the 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2) gene in human essential hypertension. 62
9856363 1998
259
Cortisol and hypertension. 62
9809193 1998
260
Sodium balance and hypertension: rare genetic disorders expose pathogenic mechanisms. 62
9807020 1998
261
Aldosterone action: fact, failure and the future. 62
9809192 1998
262
Placental 11 beta-hydroxysteroid dehydrogenase activity in normotensive and pre-eclamptic pregnancies. 62
9800281 1998
263
[11 beta-Hydroxysteroid dehydrogenase]. 62
12501657 1998
264
The syndrome of apparent mineralocorticoid excess. 62
9797927 1998
265
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. 62
9661590 1998
266
Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle's disease. 62
9678538 1998
267
A new polymorphic restriction site in the human 11 beta-hydroxysteroid dehydrogenase type 2 gene. 62
9589699 1998
268
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. 62
9431844 1997
269
[Genetics in hypertension research. What can we learn from it regarding common essential hypertension?]. 62
9445830 1997
270
Medical and physiological aspects of the 11beta-hydroxysteroid dehydrogenase system. 62
9370341 1997
271
Radioimmunoassay of cortisone in serum, urine, and saliva to assess the status of the cortisol-cortisone shuttle. 62
9267320 1997
272
[A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. 62
9404418 1997
273
[Hypertension and steroid hormones]. 62
9284410 1997
274
Abnormalities of aldosterone synthesis and action in children. 62
9300202 1997
275
Mutations in the 11 beta-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth. 62
9247735 1997
276
Glucocorticoids and hypertension in man. 62
9247761 1997
277
[Mineralocorticoid-induced hypertension]. 62
9244833 1997
278
Genetic approach to diagnostic and therapeutic decisions in human hypertension. 62
9146984 1997
279
Immunodetection of 11 beta-hydroxysteroid dehydrogenase type 2 in human mineralocorticoid target tissues: evidence for nuclear localization. 62
9048640 1997
280
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. 62
9034789 1997
281
Hypertension and hypokalemia: unusual syndromes. 62
9066195 1997
282
Selective inhibition of sheep kidney 11 beta-hydroxysteroid dehydrogenase isoform 2 activity by 5 alpha-reduced (but not 5 beta) derivatives of adrenocorticosteroids. 62
9055382 1997
283
Mutations contributing to human blood pressure variation. 62
9238856 1997
284
Mineralocorticoid receptors, salt, and hypertension. 62
9238855 1997
285
Glucocorticoid and mineralocorticoid receptors: biology and clinical relevance. 62
9046958 1997
286
Molecular analysis of 11 beta-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess. 62
9029720 1997
287
11 beta-Hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess. 62
8979285 1997
288
Human 11 beta-hydroxysteroid dehydrogenase: studies on the stably transfected isoforms and localization of the type 2 isozyme within renal tissue. 62
9029719 1997
289
Human hypertension caused by mutations in the 11 beta-hydroxysteroid dehydrogenase gene: a molecular analysis of apparent mineralocorticoid excess. 62
9120678 1996
290
Inherited forms of mineralocorticoid hypertension. 62
8952579 1996
291
Apparent cortisone reductase deficiency: a unique form of hypercortisolism. 62
8923828 1996
292
Urinary free cortisone and the assessment of 11 beta-hydroxysteroid dehydrogenase activity in man. 62
8977758 1996
293
Evidence for independent modulation of human 11-HSD and 5 alpha/5 beta reductase activities. 62
8969944 1996
294
Genetic association of 11 beta-hydroxysteroid dehydrogenase type 2 (HSD11B2) flanking microsatellites with essential hypertension in blacks. 62
8794836 1996
295
Localization of 11 beta-hydroxysteroid dehydrogenase type II in human epithelial tissues. 62
8784076 1996
296
11 beta-Hydroxysteroid dehydrogenase deficit: a rare cause of arterial Hypertension. Diagnosis and therapeutic approach in two young brothers. 62
8810740 1996
297
Analysis of the promoter of the NAD+ dependent 11 beta-hydroxysteroid dehydrogenase (HSD11K) gene in JEG-3 human choriocarcinoma cells. 62
8865170 1996
298
Rat 11 beta-hydroxysteroid dehydrogenase type 2 enzyme is expressed at low levels in the placenta and is modulated by adrenal steroids in the kidney. 62
8809740 1996
299
Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. 62
8641723 1996
300
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. 62
8793850 1996
301
11 beta-Hydroxysteroid dehydrogenases: key enzymes in determining tissue-specific glucocorticoid effects. 62
8733012 1996
302
The 11 beta-hydroxysteroid dehydrogenase type II enzyme: biochemical consequences of the congenital R337C mutation. 62
8733000 1996
303
Apparent mineralocorticoid excess: type I and type II. 62
8732999 1996
304
Recent advances in the molecular genetics of hypertension. 62
8744539 1996
305
Apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation. 62
8729536 1996
306
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. 62
8538347 1996
307
Diagnosis and treatment of a child with the syndrome of apparent mineralocorticoid excess type 1. 62
8834992 1996
308
Analysis of the human gene encoding the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase. 62
8547172 1995
309
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. 62
7593417 1995
310
Apparent mineralocorticoid excess. 62
8575412 1995
311
Apparent mineralocorticoid excess, 11beta hydroxysteroid dehydrogenase and aldosterone action Closing one loop, opening another. 62
18406708 1995
312
Gene structure and chromosomal localization of the human HSD11K gene encoding the kidney (type 2) isozyme of 11 beta-hydroxysteroid dehydrogenase. 62
8530071 1995
313
Corticosteroid hypertension. 62
8564448 1995
314
Mineralocorticoid hypertension and congenital deficiency of 11 beta-hydroxysteroid dehydrogenase in a family with the syndrome of 'apparent' mineralocorticoid excess. 62
7554322 1995
315
The syndrome of apparent mineralocorticoid excess and deficiency of 11 beta-hydroxysteroid dehydrogenase. 62
7554323 1995
316
Apparent mineralocorticoid excess syndromes. 62
9221270 1995
317
Unraveling the causes of hypertension and hypokalemia. 62
7601899 1995
318
Clinical investigation of 11 beta-hydroxysteroid dehydrogenase. 62
7588401 1995
319
Cloning of cDNA encoding an NAD(+)-dependent isoform of 11 beta-hydroxysteroid dehydrogenase in sheep kidney. 62
7588402 1995
320
Functional studies of 11 beta-hydroxysteroid dehydrogenase. 62
7792818 1995
321
Long-term treatment of mineralocorticoid excess syndromes. 62
7792822 1995
322
Mechanisms of cortisol-induced hypertension in humans. 62
7792821 1995
323
Evidence of coexisting changes in 11 beta-hydroxysteroid dehydrogenase and 5 beta-reductase activity in subjects with untreated essential hypertension. 62
7843756 1995
324
Cortisol to cortisone: glucocorticoid to mineralocorticoid. 62
7792800 1995
325
NAD(+)-dependent isoform of 11 beta-hydroxysteroid dehydrogenase. Cloning and characterization of cDNA from sheep kidney. 62
7929304 1994
326
Human kidney 11 beta-hydroxysteroid dehydrogenase is a high affinity nicotinamide adenine dinucleotide-dependent enzyme and differs from the cloned type I isoform. 62
8045966 1994
327
The prismatic case of apparent mineralocorticoid excess. 62
8027212 1994
328
Licorice-induced hypertension and syndromes of apparent mineralocorticoid excess. 62
8070427 1994
329
Apparent mineralocorticoid excess. 62
8064785 1994
330
Renin-Independent hypermineralocorticoidism. 62
18407194 1994
331
Effect of glycyrrhizin on cortisol metabolism in humans. 62
7949011 1994
332
Apparent mineralocorticoid excess: a personal history. 62
8191549 1994
333
Genetic analysis of 11 beta-hydroxysteroid dehydrogenase. 62
8191538 1994
334
[11 beta-Hydroxysteroid dehydrogenase (11-beta-OHSD): physiology and lack of action in pathology]. 62
7864584 1994
335
Cortisol and hypertension: what was not so apparent about "apparent mineralocorticoid excess". 62
8245680 1993
336
The effect of carbenoxolone on the peripheral metabolism of cortisol in human patients. 62
8245686 1993
337
Steroid hormones and hypertension: the cortisol-cortisone shuttle. 62
8116018 1993
338
Investigation of the mechanism of hypertension in apparent mineralocorticoid excess. 62
8393954 1993
339
Congenital and acquired syndromes of apparent mineralocorticoid excess. 62
8386930 1993
340
Central hypertensinogenic effects of glycyrrhizic acid and carbenoxolone. 62
1476186 1992
341
Molecular biology of 11β-hydroxylase and 11β-hydroxysteroid dehydrogenase enzymes. 62
22217826 1992
342
When is cortisol a mineralocorticoid? 62
1474763 1992
343
Detection of glycyrrhetinic acid-like factors (GALFs) in human urine. 62
1516955 1992
344
[11 beta-hydroxysteroid dehydrogenase and steroid receptors]. 62
1516720 1992
345
Evidence for cortisol as the mineralocorticoid in the syndrome of apparent mineralocorticoid excess. 62
1401749 1992
346
Cortisol inactivation overload: a mechanism of mineralocorticoid hypertension in the ectopic adrenocorticotropin syndrome. 62
1569172 1992
347
Defective ring A reduction of cortisol as the major metabolic error in the syndrome of apparent mineralocorticoid excess. 62
1740492 1992
348
An unusual cause of factitious mineralocorticoid excess. 62
1283935 1992
349
Corticosteroids, receptors, and the organ-specific functions of 11 beta-hydroxysteroid dehydrogenase. 62
1743437 1991
350
Are the hypokalaemia and hypertension in Cushing's disease caused by apparent mineralocorticoid excess? 62
1816069 1991
351
The cortisol-cortisone shuttle and the apparent specificity of glucocorticoid and mineralocorticoid receptors. 62
1659446 1991
352
Steroid characteristics of mineralocorticoid adrenocortical hypertension. 62
1914200 1991
353
The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization. 62
1885595 1991
354
Bile acids and their amidates inhibit 11 beta-hydroxysteroid dehydrogenase obtained from rat kidney. 62
1945747 1991
355
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. 62
1879399 1991
356
Synthesis of a deuterium-labeled cortisol for the study of its rate of 11 beta-hydroxy dehydrogenation in man. 62
2009227 1991
357
Defects in cortisol metabolism causing low-renin hypertension. 62
1879383 1991
358
Steroids and hypertension. 62
1958539 1991
359
Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action. 62
2172062 1990
360
Distribution of 11 beta-hydroxysteroid dehydrogenase along the rabbit nephron. 62
2394832 1990
361
Cloning and expression of rat cDNA encoding corticosteroid 11 beta-dehydrogenase. 62
2808402 1989
362
A new form of the syndrome of apparent mineralocorticoid excess. 62
2913411 1989
363
Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age. 62
2889032 1987
364
New findings in apparent mineralocorticoid excess. 62
2820623 1987
365
Apparent mineralocorticoid excess causing hypertension and hypokalemia in children. 62
3463439 1986
366
Apparent mineralocorticoid excess and deficient 11 beta-oxidation of cortisol in a young female. 62
6094045 1984
367
Metabolic and blood pressure responses to hydrocortisone in the syndrome of apparent mineralocorticoid excess. 62
6296185 1983
368
[Adaptation of the oxygen electrode of the Astrup apparatus AME-1 for the measurement of oxygen consuming enzyme activities]. 62
960989 1976
369
[A comparative study of the accuracy of the astrup AME 1 and the gas-check-AVL apparatus for blood gas analysis (author's transl)]. 62
4763156 1973
Sources

Variations for Apparent Mineralocorticoid Excess

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ClinVar genetic disease variations for Apparent Mineralocorticoid Excess:

5 (showing 23, show less)
# 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) DEL 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) DEL Pathogenic
 974390 rs2040979235 GRCh37: 16:67470705-67470705
GRCh38: 16:67436802-67436802
11 HSD11B2 NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis) DEL Pathogenic
 12097 rs397509434 GRCh37: 16:67470698-67470700
GRCh38: 16:67436795-67436797
12 HSD11B2 NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del) DEL Pathogenic
 12102 rs794726670 GRCh37: 16:67470581-67470583
GRCh38: 16:67436678-67436680
13 HSD11B2 NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) SNV Likely Pathogenic
 12093 rs121917780 GRCh37: 16:67470003-67470003
GRCh38: 16:67436100-67436100
14 HSD11B2 NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val) SNV Likely Pathogenic
 974391 rs1453036708 GRCh37: 16:67470671-67470671
GRCh38: 16:67436768-67436768
15 HSD11B2 NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu) SNV Uncertain Significance
 1028126 rs28934593 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) DEL Uncertain Significance
 12100 rs794726669 GRCh37: 16:67469605-67469610
GRCh38: 16:67435702-67435707
19 HSD11B2 NM_000196.4(HSD11B2):c.956_964dup (p.Val321_Val322insAlaProVal) DUP 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.468C>A (p.Thr156=) SNV Benign
 586028 rs5479 GRCh37: 16:67469733-67469733
GRCh38: 16:67435830-67435830
22 HSD11B2 NM_000196.4(HSD11B2):c.534G>A (p.Glu178=) SNV Benign
 586029 rs45483293 GRCh37: 16:67469915-67469915
GRCh38: 16:67436012-67436012
23 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:

73 (showing 14, show less)
# 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 rs1309642469
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 rs1453036708
12 HSD11B2 p.Tyr338His VAR_015646 rs387907117
13 HSD11B2 p.Asp223Asn VAR_066514 rs121917833
14 HSD11B2 p.Arg337Cys VAR_066515 rs121917781

Sources

Expression for Apparent Mineralocorticoid Excess

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

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

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Metabolism of steroids 66
Show member pathways
 12.11 POMC HSD11B2 HSD11B1 CYP11B2 CYP11B1
2
ACE Inhibitor Pathway, Pharmacodynamics 60
Show member pathways
 11.49 REN NR3C2 CYP11B2
3
Oxysterols derived from cholesterol 74
Show member pathways
 11.06 HSD11B2 HSD11B1
4
Metabolism of steroid hormones 66
Show member pathways
 11.01 POMC HSD11B2 HSD11B1 CYP11B2 CYP11B1
5
Metabolic disorders of biological oxidation enzymes 66
10.85 CYP11B2 CYP11B1
6
Diuretics Pathway, Pharmacodynamics 60
10.72 WNK4 SLC12A3 SCNN1B KCNJ1
Sources

GO Terms for Apparent Mineralocorticoid Excess

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

(showing 17, show less)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transmembrane transport GO:0035725 10.01 WNK4 SLC12A3 SCNN1B
2 response to xenobiotic stimulus GO:0009410 9.97 WNK4 SCNN1B REN HSD11B2
3 response to food GO:0032094 9.87 SCNN1B HSD11B2
4 sterol metabolic process GO:0016125 9.86 CYP11B2 CYP11B1
5 cellular response to peptide hormone stimulus GO:0071375 9.85 CYP11B2 CYP11B1
6 response to dietary excess GO:0002021 9.83 WNK4 SLC12A3
7 cellular response to potassium ion GO:0035865 9.81 CYP11B1 CYP11B2
8 potassium ion homeostasis GO:0055075 9.8 SLC12A3 SCNN1B CYP11B2
9 glucocorticoid biosynthetic process GO:0006704 9.78 CYP11B2 CYP11B1
10 C21-steroid hormone biosynthetic process GO:0006700 9.76 CYP11B2 CYP11B1
11 aldosterone biosynthetic process GO:0032342 9.73 CYP11B1 CYP11B2
12 cortisol biosynthetic process GO:0034651 9.71 CYP11B1 CYP11B2
13 regulation of blood volume by renal aldosterone GO:0002017 9.67 HSD11B2 CYP11B2
14 steroid metabolic process GO:0008202 9.65 HSD11B2 HSD11B1 CYP11B2 CYP11B1
15 sodium ion homeostasis GO:0055078 9.63 SLC12A3 SCNN1B CYP11B2
16 regulation of blood pressure GO:0008217 9.56 SCNN1B REN POMC CYP11B1
17 cortisol metabolic process GO:0034650 9.1 HSD11B2 CYP11B2 CYP11B1

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

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 HSD11B2 HSD11B1 CYP11B2 CYP11B1
2 steroid binding GO:0005496 9.63 NR3C2 HSD11B2 HSD11B1
3 corticosterone 18-monooxygenase activity GO:0047783 9.26 CYP11B2 CYP11B1
4 steroid 11-beta-monooxygenase activity GO:0004507 8.92 CYP11B2 CYP11B1
Sources

Sources for Apparent Mineralocorticoid Excess

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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