| H01111 | |
| H番号 | H01111 |
| 名称 | コルチゾンレダクターゼ欠損 |
| 概要 | Cortisone reductase deficiency (CORTRD) is a rare abnormality of cortisone metabolism. There are close phenotypic similarities between cortisone reductase deficiency (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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06019(H01111) Steroid hormone biosynthesis |
| 病因遺伝子 | (CORTRD1) H6PD [HSA:9563] [KO:K13937] (CORTRD2) HSD11B1 [HSA:3290] [KO:K15680] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A71.Y ICD-10: E25.8 MeSH: C536447 OMIM: 604931 614662 |
| 文献 | PMID:21325058 (HSD11B1) 著者 Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP タイトル Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. 雑誌 Proc Natl Acad Sci U S A 108:4111-6 (2011) DOI:10.1073/pnas.1014934108 PMID:12858176 (H6PD, HSD11B1) 著者 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 タイトル Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. 雑誌 Nat Genet 34:434-9 (2003) DOI:10.1038/ng1214 PMID:16817821 著者 Draper N, Powell BL, Franks S, Conway GS, Stewart PM, McCarthy MI タイトル Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. 雑誌 Clin Endocrinol (Oxf) 65:64-70 (2006) DOI:10.1111/j.1365-2265.2006.02547.x |