KEGG   DISEASE: Pulmonary alveolar microlithiasisHelp
Entry
H01298                      Disease                                

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
Lung disease
Brite
Human diseases [BR:br08402]
 Respiratory diseases
  Lung diseases
   H01298  Pulmonary alveolar microlithiasis
Human diseases in ICD-11 classification [BR:br08403]
 12 Diseases of the respiratory system
  Respiratory diseases principally affecting the lung interstitium
   CB06  Pulmonary alveolar microlithiasis
    H01298  Pulmonary alveolar microlithiasis
BRITE hierarchy
Gene
SLC34A2 [HSA:10568] [KO:K14683]
Other DBs
ICD-11: CB06
OMIM: 265100
Reference
  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

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