MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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expandadrenogenital syndrome (MONDO:0015898)
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expandanomaly of puberty or/and menstrual cycle of genetic origin (MONDO:0016072)
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expanddisease of catalytic activity (MONDO:0044976)
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expandinherited lipid metabolism disorder (MONDO:0002525)
..Starting node
..expandcortisone reductase deficiency ()

       Child Nodes:
........expandcortisone reductase deficiency 1 ()
........expandcortisone reductase deficiency 2 ()



 Sister Nodes: 
..expand46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ()
..expand46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ()
..expandcortisone reductase deficiency ()
..expanddisorder of lipid absorption and transport ()
..expanddisorder of phospholipids, sphingolipids and fatty acids biosynthesis ()
..expanddisorder of plasmalogens biosynthesis ()
..expanddisorder of sphingolipid biosynthesis ()
..expandfamilial hyperlipidemia ()
..expandglycosylphosphatidylinositol biosynthesis defect 16 ()
..expandglycosylphosphatidylinositol biosynthesis defect 17 ()
..expandglycosylphosphatidylinositol biosynthesis defect 18 ()
..expandhypolipoproteinemia (disease) ()
..expandinborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation ()
..expandinherited fatty acid metabolism disorder ()
..expandlipoid proteinosis ()
..expandlysosomal lipid storage disorder ()
..expandsteroid inherited metabolic disorder ()
..expandsterol metabolism disorder ()
..expandsyndromic dyslipidemia ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:193
Name:cortisone reductase deficiency
Definition:A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.
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Synonyms:11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of; 11-beta-hydroxysteroid dehydrogenase deficiency type 1; CORTRD; deficiency of (R)-20-hydroxysteroid dehydrogenase; deficiency of cortisone reductase; HSD 11B1 deficiency; hyperandrogenism due to cortisone reductase deficiency
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Reference: MedGen:
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