H00246 | |
H番号 | H00246 |
名称 | 副甲状腺機能亢進症 |
概要 | Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene. |
カテゴリ | 内分泌代謝疾患 |
ネットワーク | nt06318 CaSR-PTH signaling |
病因遺伝子 | CDC73 [HSA:79577] [KO:K15175] MEN1 [HSA:4221] [KO:K14970] CASR [HSA:846] [KO:K04612] GCM2 [HSA:9247] [KO:K21598] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | シナカルセト塩酸塩 [DR:D03505] |
コメント | - |
リンク | ICD-11: 5A51.0 ICD-10: E21.0 MeSH: D049950 OMIM: 145000 145001 239200 617343 |
文献 | PMID:19092296 著者 Cetani F, Pardi E, Ambrogini E, Banti C, Viacava P, Borsari S, Bilezikian JP, Pinchera A, Marcocci C タイトル Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment. 雑誌 J Endocrinol Invest 31:900-4 (2008) DOI:10.1007/BF03346439 PMID:18684024 著者 DeLellis RA, Mazzaglia P, Mangray S タイトル Primary hyperparathyroidism: a current perspective. 雑誌 Arch Pathol Lab Med 132:1251-62 (2008) DOI:10.1043/1543-2165(2008)132[1251:PHACP]2.0.CO;2 PMID:16001331 著者 Wang PF, Tan MH, Zhang C, Morreau H, Teh BT タイトル HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. 雑誌 Horm Metab Res 37:380-3 (2005) DOI:10.1055/s-2005-870150 PMID:27745835 著者 Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK タイトル GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. 雑誌 Am J Hum Genet 99:1034-1044 (2016) DOI:10.1016/j.ajhg.2016.08.018 |