has material basis in germline mutation in SLC34A2 hereditary disease lung disorder pulmonary alveolar microlithiasis https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis https://www.malacards.org/card/pulmonary_alveolar_microlithiasis GARD:0011894 Orphanet:60025 NANDO:2200202 ICD9:516.2 MedDRA:10037315 UMLS:C0155912 ICD10CM:J84.02 MONDO:0009928 icd11.foundation:1220010076 DOID:12117 OMIM:265100 pulmonary alveolar microlithiasis MESH:C562405 SCTID:87153008 Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner. MEDGEN:56374