Autoimmune pulmonary alveolar proteinosis
disease diseaseOn this page
Also known as acquired pulmonary alveolar proteinosisAPAPautoimmune PAPidiopathic PAPidiopathic pulmonary alveolar proteinosisiPAPPAPPAP acquiredpulmonary alveolar lipoproteinosis acquiredpulmonary alveolar proteinosis acquiredpulmonary alveolar proteinosis autoimmune
Summary
Autoimmune pulmonary alveolar proteinosis (MONDO:0012579) is a disease and 15 clinical trials. Top therapeutic interventions include sargramostim, molgramostim, and regramostim. A subtype of pulmonary alveolar proteinosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 20
- Clinical trials: 15
Clinical features
Epidemiology
Prevalence records
4 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 2.66 | Worldwide | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.165 | Japan | Validated |
| Point prevalence | 1-9 / 1 000 000 | 2.66 | Japan | Validated |
| Point prevalence | 1-9 / 1 000 000 | 0.687 | United States | Validated |
Signs & symptoms
Clinical features (HPO)
20 HPO clinical features (Orphanet curated; top 20 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0006517 | Intraalveolar phospholipid accumulation | Very frequent (80-99%) |
| HP:0000961 | Cyanosis | Frequent (30-79%) |
| HP:0001217 | Clubbing | Frequent (30-79%) |
| HP:0002087 | Abnormality of the upper respiratory tract | Frequent (30-79%) |
| HP:0002091 | Restrictive ventilatory defect | Frequent (30-79%) |
| HP:0002094 | Dyspnea | Frequent (30-79%) |
| HP:0003651 | Foam cells | Frequent (30-79%) |
| HP:0010876 | Abnormal circulating protein level | Frequent (30-79%) |
| HP:0012418 | Hypoxemia | Frequent (30-79%) |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | Frequent (30-79%) |
| HP:0030057 | Autoimmune antibody positivity | Frequent (30-79%) |
| HP:0045051 | Decreased DLCO | Frequent (30-79%) |
| HP:0012735 | Cough | Occasional (5-29%) |
| HP:0025391 | Crazy paving pattern on pulmonary HRCT | Occasional (5-29%) |
| HP:0030830 | Crackles | Occasional (5-29%) |
| HP:0001824 | Weight loss | Very rare (<1-4%) |
| HP:0001945 | Fever | Very rare (<1-4%) |
| HP:0002105 | Hemoptysis | Very rare (<1-4%) |
| HP:0012378 | Fatigue | Very rare (<1-4%) |
| HP:0100749 | Chest pain | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | autoimmune pulmonary alveolar proteinosis |
| Mondo ID | MONDO:0012579 |
| MeSH | C567049 |
| OMIM | 610910 |
| Orphanet | 747 |
| ICD-11 | 676409940 |
| SNOMED CT | 707443007 |
| UMLS | C1970472 |
| MedGen | 410079 |
| GARD | 0007499 |
| NORD | 1633 |
| Is cancer (heuristic) | no |
Also known as: acquired pulmonary alveolar proteinosis · APAP · autoimmune PAP · idiopathic PAP · idiopathic pulmonary alveolar proteinosis · iPAP · PAP · PAP acquired · pulmonary alveolar lipoproteinosis acquired · pulmonary alveolar proteinosis acquired · pulmonary alveolar proteinosis autoimmune
Data availability: 6 cell lines.
Disease family
This is a subtype of pulmonary alveolar proteinosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › lung disorder › pulmonary alveolar proteinosis › autoimmune pulmonary alveolar proteinosis
Related subtypes (2): hereditary pulmonary alveolar proteinosis, secondary pulmonary alveolar proteinosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 15.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 6 |
| PHASE2 | 4 |
| PHASE3 | 3 |
| PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT04544293 | PHASE3 | ACTIVE_NOT_RECRUITING | Clinical Trial of Inhaled Molgramostim Nebulizer Solution in Autoimmune Pulmonary Alveolar Proteinosis (aPAP) |
| NCT06431776 | PHASE3 | RECRUITING | Inhaled Molgramostim in Pediatric Participants With Autoimmune Pulmonary Alveolar Proteinosis (aPAP). |
| NCT03482752 | PHASE3 | TERMINATED | Safety Extension Trial of Inhaled Molgramostim in Autoimmune Pulmonary Alveolar Proteinosis |
| NCT06111846 | PHASE2 | ACTIVE_NOT_RECRUITING | Study of Human Bone Marrow Mesenchymal Stem Cells in APAP |
| NCT00901511 | PHASE2 | COMPLETED | Inhaled GM-CSF Therapy of Autoimmune PAP |
| NCT02243228 | PHASE2 | UNKNOWN | Inhalation of Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) for Autoimmune Pulmonary Alveolar Proteinosis (PAP) |
| NCT02702180 | PHASE2 | COMPLETED | Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis |
| NCT03006146 | PHASE1 | COMPLETED | Evaluation of a Single Dose of Inhaled Sargramostim in Patients With Autoimmune Pulmonary Alveolar Proteinosis |
| NCT03231033 | PHASE1 | COMPLETED | Pioglitazone Therapy of Autoimmune Pulmonary Alveolar Proteinosis Autoimmune Pulmonary Alveolar Proteinosis |
| NCT00461188 | Not specified | RECRUITING | Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA |
| NCT06546098 | Not specified | AVAILABLE | Molgramostim Nebulizer Solution Expanded Access Program Protocol |
| NCT06767111 | Not specified | ENROLLING_BY_INVITATION | Techcyte SureView Cervical Cytology System Clinical Validation Study |
| NCT03531996 | Not specified | COMPLETED | The Longitudinal Evaluation of Autoimmune Pulmonary Alveolar Proteinosis |
| NCT03721445 | Not specified | UNKNOWN | Could HRV be a Valuable Predictor for CPAP Adherence? |
| NCT06930989 | Not specified | COMPLETED | Primary Prevention Long-term Registry Study in OSA and Hypertension. Survival Analysis 2010-2022 |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SARGRAMOSTIM | 4 | 2 |
| MOLGRAMOSTIM | 3 | 4 |
| REGRAMOSTIM | 3 | 1 |
Related Atlas pages
- Drugs: Sargramostim, Molgramostim, Regramostim