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pulmonary alveolar microlithiasis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pulmonary alveolar microlithiasis

MONDO:0009928

Overview

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.

GeneticsAutosomal recessive · SLC34A2 (chr 4)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Restrictive ventilatory defect, Dyspnea, Increased pulmonary vascular resistance, and Fatigue and others; and sometimes findings: Cyanosis, Right ventricular failure, Weight loss, and Difficulty breathing (respiratory insufficiency) and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	15	Progressive pulmonary function impairment, Restrictive ventilatory defect, Dyspnea

Genetic Landscape

SLC34A2 function has not been fully characterized.

Pulmonary alveolar microlithiasis is associated with mutations in the SLC34A2 gene on chromosome 4.

Diagnosis

Genetic testing for SLC34A2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pulmonary alveolar microlithiasis.

28 publications have been identified in PubMed for pulmonary alveolar microlithiasis. Research spans Case Report / Case Series (61%), Review / Meta-Analysis (29%), and Other (11%).

Research Type	Count	% of Total
Patient case studies	17	61%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 12:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:265100

Orphanet

European rare disease database

Orphanet:60025

GARD

Genetic and Rare Diseases Info Center

GARD:11894

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

pulmonary alveolar microlithiasis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pulmonary alveolar microlithiasis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications