Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:apparent mineralocorticoid excess syndrome
go back to main search page
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;   Cortisol 11-beta-ketoreductase deficiency;   Ulick syndrome;   apparent mineralocorticoid excess;   syndrome of apparent mineralocorticoid excess
 narrow_synonym: apparent mineralocorticoid excess, mild
 primary_id: MESH:D043204
 alt_id: DOID:0090121;   MESH:C537422;   OMIM:218030
 xref: GARD:433;   NCI:C123231;   ORDO:320
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      apparent mineralocorticoid excess syndrome 2
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          inherited metabolic disorder 1884
            lipid metabolism disorder 740
              steroid inherited metabolic disorder 46
                apparent mineralocorticoid excess syndrome 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.