H01298 | |
H number | H01298 |
Name | Pulmonary alveolar microlithiasis |
Description | 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. |
Category | Respiratory system disease |
Network | - |
Gene | SLC34A2 [HSA:10568] [KO:K14683] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: CB06 OMIM: 265100 |
Reference | PMID:16960801 AUTHORS Corut A, Senyigit A, Ugur SA, Altin S, Ozcelik U, Calisir H, Yildirim Z, Gocmen A, Tolun A TITLE Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. JOURNAL Am J Hum Genet 79:650-6 (2006) DOI:10.1086/508263 |