Pulmonary Fibrosis_Interstitial Lung Disease

Gene: SLC34A2

Green List (high evidence)

Pulmonary alveolar microlithiasis (PULAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years or even for decades, and, generally, the diagnosis is incidental to clinical investigations unrelated to the specific disorder. Cases with early onset or rapid progression are rare.

Multiple unrelated families reported.

Created: 1 Apr 2022, 6:52 a.m. | Last Modified: 1 Apr 2022, 6:52 a.m.

Panel Version: 0.12439

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pulmonary alveolar microlithiasis, MIM# 265100

Publications

• 16960801
• 34581165
• 33884208
• 32328294
• 31941744