KEGG   DISEASE: Cortisone reductase deficiencyHelp
Entry
H01111                      Disease                                

Name
Cortisone reductase deficiency
Description
Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between CRD and polycystic ovary syndrome (PCOS). PCOS is a common endocrine disorder characterized by hirsutism, menstrual irregularity, anovulatory infertility, obesity, insulin resistance and hyperandrogenism. 11beta-HSD1 is a dimeric enzyme that catalyzes the reduction of cortisone to cortisol within the endoplasmic reticulum. And loss of its activity results in CRD. Mutations in H6PD, which encodes an enzyme supplying cofactor for the reaction, also have been identified as the cause of CRD.
Category
Endocrine and metabolic disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H01111  Cortisone reductase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A71  Adrenogenital disorders
     H01111  Cortisone reductase deficiency
BRITE hierarchy
Pathway
hsa00030  Pentose phosphate pathway
hsa00140  Steroid hormone biosynthesis
hsa00980  Metabolism of xenobiotics by cytochrome P450
Network
nt06019  Steroid hormone biosynthesis
  Element
N00310  Mutation-inactivated HED11B1 to cortisone reduction
N00312  Mutation-inactivated H6PD to NADPH production
Gene
(CORTRD1) H6PD [HSA:9563] [KO:K13937]
(CORTRD2) HSD11B1 [HSA:3290] [KO:K15680]
Other DBs
ICD-11: 5A71.Y
ICD-10: E25.8
MeSH: C536447
OMIM: 604931 614662
Reference
  Authors
Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP
  Title
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.
  Journal
Proc Natl Acad Sci U S A 108:4111-6 (2011)
DOI:10.1073/pnas.1014934108
Reference
  Authors
Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM
  Title
Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency.
  Journal
Nat Genet 34:434-9 (2003)
DOI:10.1038/ng1214
Reference
  Authors
Draper N, Powell BL, Franks S, Conway GS, Stewart PM, McCarthy MI
  Title
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.
  Journal
Clin Endocrinol (Oxf) 65:64-70 (2006)
DOI:10.1111/j.1365-2265.2006.02547.x

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