| H01143 | |
| H番号 | H01143 |
| 名称 | ビタミンD依存性くる病 |
| 概要 | Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets (VDDR) type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06034(H01143) Cholesterol biosynthesis |
| 病因遺伝子 | (VDDR1A) CYP27B1 [HSA:1594] [KO:K07438] (VDDR1B) CYP2R1 [HSA:120227] [KO:K07419] (VDDR2A) VDR [HSA:7421] [KO:K08539] (VDDR3) CYP3A4 [HSA:1576] [KO:K17689] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5B57.0 ICD-10: E55.0 MeSH: C562688 C564005 C562794 OMIM: 264700 277440 600081 619073 |
| 文献 | PMID:16939184 著者 Nield LS, Mahajan P, Joshi A, Kamat D タイトル Rickets: not a disease of the past. 雑誌 Am Fam Physician 74:619-26 (2006) PMID:20511055 著者 Malloy PJ, Feldman D タイトル Genetic disorders and defects in vitamin d action. 雑誌 Endocrinol Metab Clin North Am 39:333-46, table of contents (2010) DOI:10.1016/j.ecl.2010.02.004 PMID:15972816 (CYP27B1) 著者 Yamamoto K, Uchida E, Urushino N, Sakaki T, Kagawa N, Sawada N, Kamakura M, Kato S, Inouye K, Yamada S タイトル Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. 雑誌 J Biol Chem 280:30511-6 (2005) DOI:10.1074/jbc.M505244200 PMID:15128933 (CYP2R1) 著者 Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW タイトル Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. 雑誌 Proc Natl Acad Sci U S A 101:7711-5 (2004) DOI:10.1073/pnas.0402490101 PMID:17970811 (VDR) 著者 Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA タイトル A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. 雑誌 Br J Dermatol 158:168-71 (2008) DOI:10.1111/j.1365-2133.2007.08232.x PMID:29461981 (CYP3A4) 著者 Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA タイトル CYP3A4 mutation causes vitamin D-dependent rickets type 3. 雑誌 J Clin Invest 128:1913-1918 (2018) DOI:10.1172/JCI98680 |