Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Apparent_mineralocorticoid_excess_syndrome> ?p ?o }
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- Apparent_mineralocorticoid_excess_syndrome abstract "Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone. The inactivating mutation leads to elevated local concentrations of cortisol in the kidney. Cortisol at high concentrations can cross-react and activate the mineralocorticoid receptor, leading to aldosterone-like effects in the kidney. This is what causes the hypokalemia, hypertension, and hypernatremia associated with the syndrome.Other conditions such as Liddle's Syndrome can mimic the clinical features of AME, so diagnosis can be made by calculating the ratio of free urinary cortisol to free urinary cortisone. Since AME patients create less cortisone, the ratio will much be higher than non-affected patients. Alternatively, one could differentiate between the two syndromes by administering a potassium-sparing diuretic. Patients with Liddle's syndrome will only respond to a diuretic that binds the ENaC channel, whereas those with AME will respond to a diuretic that binds to ENaC or the mineralcorticoid receptor.AME is exceedingly rare, with less than 100 cases recorded worldwide.Liquorice consumption may also cause a temporary form of AME due to its ability to block 11β-hydroxysteroid dehydrogenase type 2, in turn causing increased levels of cortisol. Cessation of licorice consumption will reverse this form of AME.".
- Apparent_mineralocorticoid_excess_syndrome meshId "D043204".
- Apparent_mineralocorticoid_excess_syndrome omim "218030".
- Apparent_mineralocorticoid_excess_syndrome thumbnail Autorecessive.svg?width=300.
- Apparent_mineralocorticoid_excess_syndrome wikiPageID "3820467".
- Apparent_mineralocorticoid_excess_syndrome wikiPageLength "4678".
- Apparent_mineralocorticoid_excess_syndrome wikiPageOutDegree "44".
- Apparent_mineralocorticoid_excess_syndrome wikiPageRevisionID "676370800".
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink 11-Beta_hydroxysteroid_dehydrogenase.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink 11β-Hydroxylase_I_deficiency.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink 11β-hydroxysteroid_dehydrogenase.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Aldosterone.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Aldosterone_synthase.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Autosome.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Blood_pressure.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Category:Adrenal_gland_disorders.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Category:Cholesterol_and_steroid_metabolism_disorders.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Category:Genetic_disorders.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Category:Rare_diseases.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Category:Syndromes.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Congenital_adrenal_hyperplasia_due_to_11β-hydroxylase_deficiency.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Corticosteroid_11-beta-dehydrogenase_isozyme_2.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Cortisol.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Cortisone.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Dehydrogenase.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Dominance_(genetics).
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink File:Autorecessive.svg.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Gene.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Genetic_carrier.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Glucocorticoid.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Glucocorticoid-remediable_aldosteronism.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Glucocorticoid_remediable_aldosteronism.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink HSD11B2.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Hyperaldosteronism.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Hypernatremia.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Hypertension.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Hypokalemia.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Inborn_errors_of_steroid_metabolism.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Isozyme.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Kidney.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Liddles_Syndrome.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Liddles_syndrome.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Liquorice_(confectionery).
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Maria_New.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Mineralocorticoid.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Mutation.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Potassium.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLink Pseudohyperaldosteronism.
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLinkText "11β-Hydroxylase type 2 deficiency".
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLinkText "Apparent mineralocorticoid excess syndrome".
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLinkText "apparent mineralocorticoid excess syndrome".
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLinkText "apparent mineralocorticoid excess".
- Apparent_mineralocorticoid_excess_syndrome wikiPageWikiLinkText "mineralocorticoid excess syndrome".
- Apparent_mineralocorticoid_excess_syndrome diseasesdb "12740".
- Apparent_mineralocorticoid_excess_syndrome hasPhotoCollection Apparent_mineralocorticoid_excess_syndrome.
- Apparent_mineralocorticoid_excess_syndrome meshid "D043204".
- Apparent_mineralocorticoid_excess_syndrome name "Apparent mineralocorticoid excess syndrome".
- Apparent_mineralocorticoid_excess_syndrome omim "218030".
- Apparent_mineralocorticoid_excess_syndrome wikiPageUsesTemplate Template:Defects_of_cholesterol_and_steroid_metabolism.
- Apparent_mineralocorticoid_excess_syndrome wikiPageUsesTemplate Template:Endocrine_pathology.
- Apparent_mineralocorticoid_excess_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Apparent_mineralocorticoid_excess_syndrome wikiPageUsesTemplate Template:RareDiseases.
- Apparent_mineralocorticoid_excess_syndrome wikiPageUsesTemplate Template:Reflist.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Adrenal_gland_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Autosomal_recessive_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Cholesterol_and_steroid_metabolism_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Genetic_disorders.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Rare_diseases.
- Apparent_mineralocorticoid_excess_syndrome subject Category:Syndromes.
- Apparent_mineralocorticoid_excess_syndrome hypernym Disorder.
- Apparent_mineralocorticoid_excess_syndrome type Disease.
- Apparent_mineralocorticoid_excess_syndrome type Disorder.
- Apparent_mineralocorticoid_excess_syndrome type Error.
- Apparent_mineralocorticoid_excess_syndrome type Syndrome.
- Apparent_mineralocorticoid_excess_syndrome type Thing.
- Apparent_mineralocorticoid_excess_syndrome type Q12136.
- Apparent_mineralocorticoid_excess_syndrome comment "Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high blood pressure) and hypokalemia (abnormally low levels of potassium). The condition responds to glucocorticoid treatment. It results from mutations in the HSD11B2 gene, which encodes the kidney isozyme of 11β-hydroxysteroid dehydrogenase type 2. In an unaffected individual, this isozyme inactivates circulating cortisol to the less-active metabolite cortisone.".
- Apparent_mineralocorticoid_excess_syndrome label "Apparent mineralocorticoid excess syndrome".
- Apparent_mineralocorticoid_excess_syndrome sameAs Síndrome_de_exceso_aparente_de_mineralocorticoide.
- Apparent_mineralocorticoid_excess_syndrome sameAs Pozorny_nadmiar_mineralokortykoidów.
- Apparent_mineralocorticoid_excess_syndrome sameAs m.0b1pd3.
- Apparent_mineralocorticoid_excess_syndrome sameAs Синдром_кажущегося_избытка_минералокортикоидов.
- Apparent_mineralocorticoid_excess_syndrome sameAs Q2065747.
- Apparent_mineralocorticoid_excess_syndrome sameAs Q2065747.
- Apparent_mineralocorticoid_excess_syndrome wasDerivedFrom Apparent_mineralocorticoid_excess_syndrome?oldid=676370800.
- Apparent_mineralocorticoid_excess_syndrome depiction Autorecessive.svg.
- Apparent_mineralocorticoid_excess_syndrome isPrimaryTopicOf Apparent_mineralocorticoid_excess_syndrome.
- Apparent_mineralocorticoid_excess_syndrome name "Apparent mineralocorticoid excess syndrome".