ORPHA:60025
Pulmonary alveolar microlithiasis
Publications
705
82.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,083
Distinct authors in sample
Gene link
SLC34A2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009928
- MeSH:C562405
- OMIM:265100
- UMLS:C0155912
Additional Mondo synonyms (1)
pulmonary alveolar microlithiasis
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SLC34A2
- LiteraturePresent
705 matched papers (261 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SLC34A2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
705
705 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
705 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
261 in the last 10 years · high confidence · 82.6th percentile (publications denominator)
Phrase hits: 705 · MeSH hits: 9
Who's working on it?
1,083
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01McCormack FX9 papers · 2025
Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Papers in Europe PMC - 02Bendstrup E6 papers · 2025
Dept of Respiratory Diseases and Allergy, Aarhus University Hospital, Aarhus, Denmark.
Papers in Europe PMC - 03Jönsson ÅLM5 papers · 2023
Dept of Biomedicine, Aarhus University, Aarhus, Denmark aasajoen@rm.dk.
Papers in Europe PMC - 04Wikenheiser-Brokamp KA5 papers · 2025
Division of Pathology & Laboratory Medicine and Perinatal Institute, and.
Papers in Europe PMC - 05Hasegawa Y4 papers · 2024
Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, USA.
Papers in Europe PMC - 06Kiper N4 papers · 2026
Faculty of Medicine, Pediatric Pulmonology Department, Hacettepe University, Ankara, Turkey.
Papers in Europe PMC - 07Kopras EJ4 papers · 2024
Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, USA.
Papers in Europe PMC - 08Pitstick LB4 papers · 2025
Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Papers in Europe PMC - 09Tanaka Y4 papers · 2025
Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Papers in Europe PMC - 10Teitelbaum SL4 papers · 2025
Department of Pathology and Immunology, and Division of Bone and Mineral Diseases, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Pulmonary alveolar microlithiasis"
MeSH descriptor terms unioned into the query: Pulmonary Alveolar Microlithiasis
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pulmonary alveolar microlithiasis" OR "SLC34A2"
Recall-expansion terms: SLC34A2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:02:02.028Z