| H01298 | |
| H番号 | H01298 |
| 名称 | 肺胞微石症 |
| 概要 | Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases with early onset or rapid progression are rare. One-third of the reported cases are familial. It has been suggested that mutations in SLC34A2 cause this disease. |
| カテゴリ | 呼吸器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SLC34A2 [HSA:10568] [KO:K14683] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: CB06 OMIM: 265100 |
| 文献 | PMID:16960801 著者 Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A タイトル Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 雑誌 Am J Hum Genet 79:650-6 (2006) DOI:10.1086/508263 |