Term:apparent mineralocorticoid excess syndrome
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Accession:DOID:4367 term browser browse the term
Definition:A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.
Synonyms:exact_synonym: 11-beta-hydroxysteroid dehydrogenase deficiency type 2;   AME;   AME1;   Apparent Mineralocorticoid Excess;   Cortisol 11-beta-ketoreductase deficiency;   Ulick syndrome;   syndrome of apparent mineralocorticoid excess
 primary_id: MESH:C537422;   MESH:D043204
 alt_id: DOID:0090121;   OMIM:218030;   RDO:0003265;   RDO:0003266;   RDO:9004416
 xref: GARD:433;   ORDO:320
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apparent mineralocorticoid excess syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 JBrowse link 19 37,476,083 37,481,326 RGD:7240710
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:11554173

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  disease 14875
    syndrome 4220
      apparent mineralocorticoid excess syndrome 2
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          inherited metabolic disorder 1808
            lipid metabolism disorder 721
              steroid inherited metabolic disorder 58
                apparent mineralocorticoid excess syndrome 2
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