| H00245 | |
| H番号 | H00245 |
| 名称 | カルシウム感知受容体 (CASR) 異常症 |
| 概要 | The mutations in the CASR gene which expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function mutations in the CASR gene are responsible for familial hypocalciuric hypercalcemia (FHH1) and for neonatal severe hyperparathyroidism (NSHPT). FHH1 is caused by homozygous mutations and characterized by benign symptoms with mild hypercalcaemia, whereas NSHPT is caused by homozygous mutations and characterized by more severe ones with severe hypercalcaemia and hyperparathyroid bone disease. Gain-of-function mutations are responsible for autosomal dominant hypocalcemia (ADH) that characterized by seizures in infancy, moderate hypocalcaemia and, absolute hypercalciuria. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | CASR [HSA:846] [KO:K04612] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C64.5 ICD-10: E83.5 MeSH: C537145 C563375 C562783 OMIM: 145980 239200 146200 601198 |
| 文献 | PMID:18328986 著者 Egbuna OI, Brown EM タイトル Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 雑誌 Best Pract Res Clin Rheumatol 22:129-48 (2008) DOI:10.1016/j.berh.2007.11.006 PMID:11706743 著者 Heath DA タイトル Familial hypocalciuric hypercalcemia. 雑誌 Rev Endocr Metab Disord 1:291-6 (2000) DOI:10.1023/A:1026566418011 PMID:11033758 著者 Brown EM タイトル Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium. 雑誌 Endocrinol Metab Clin North Am 29:503-22 (2000) DOI:10.1016/S0889-8529(05)70148-1 PMID:11013439 著者 Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE タイトル Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. 雑誌 Hum Mutat 16:281-96 (2000) DOI:10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A |