Pulmonary hemosiderosis
disease diseaseOn this page
Also known as alveolar hypoventilation syndromeIdiopathic Pulmonary Hemosiderosispulmonary siderosis
Summary
Pulmonary hemosiderosis (MONDO:0008346) is a disease and 2 clinical trials. Top therapeutic interventions include leflunomide. A subtype of hemosiderosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 29
- Clinical trials: 2
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.0425 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
29 HPO clinical features (Orphanet curated; top 29 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001891 | Iron deficiency anemia | Very frequent (80-99%) |
| HP:0000980 | Pallor | Frequent (30-79%) |
| HP:0001433 | Hepatosplenomegaly | Frequent (30-79%) |
| HP:0002105 | Hemoptysis | Frequent (30-79%) |
| HP:0002113 | Pulmonary infiltrates | Frequent (30-79%) |
| HP:0012378 | Fatigue | Frequent (30-79%) |
| HP:0012735 | Cough | Frequent (30-79%) |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | Frequent (30-79%) |
| HP:0001508 | Failure to thrive | Occasional (5-29%) |
| HP:0001640 | Cardiomegaly | Occasional (5-29%) |
| HP:0001945 | Fever | Occasional (5-29%) |
| HP:0002091 | Restrictive ventilatory defect | Occasional (5-29%) |
| HP:0002094 | Dyspnea | Occasional (5-29%) |
| HP:0002206 | Pulmonary fibrosis | Occasional (5-29%) |
| HP:0002240 | Hepatomegaly | Occasional (5-29%) |
| HP:0002878 | Respiratory failure | Occasional (5-29%) |
| HP:0002923 | Rheumatoid factor positive | Occasional (5-29%) |
| HP:0003262 | Smooth muscle antibody positivity | Occasional (5-29%) |
| HP:0003453 | Antineutrophil antibody positivity | Occasional (5-29%) |
| HP:0003493 | Antinuclear antibody positivity | Occasional (5-29%) |
| HP:0012393 | Allergy | Occasional (5-29%) |
| HP:0025390 | Reticular pattern on pulmonary HRCT | Occasional (5-29%) |
| HP:0025392 | Nodular pattern on pulmonary HRCT | Occasional (5-29%) |
| HP:0025420 | Diffuse alveolar hemorrhage | Occasional (5-29%) |
| HP:0030057 | Autoimmune antibody positivity | Occasional (5-29%) |
| HP:0030148 | Heart murmur | Occasional (5-29%) |
| HP:0030830 | Crackles | Occasional (5-29%) |
| HP:0000099 | Glomerulonephritis | Very rare (<1-4%) |
| HP:0100327 | Cow milk allergy | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pulmonary hemosiderosis |
| Mondo ID | MONDO:0008346 |
| MeSH | D012806 |
| OMIM | 178550 |
| Orphanet | 99931 |
| DOID | DOID:10328, DOID:12118 |
| ICD-10-CM | J84.03 |
| ICD-11 | 1542272036 |
| SNOMED CT | 40527005 |
| UMLS | C0020807 |
| MedGen | 9403 |
| GARD | 0006763 |
| NORD | 91174 |
| Is cancer (heuristic) | no |
Also known as: alveolar hypoventilation syndrome · Idiopathic Pulmonary Hemosiderosis · idiopathic pulmonary hemosiderosis · pulmonary hemosiderosis · pulmonary siderosis
Disease family
This is a subtype of hemosiderosis. 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 developmental or physiological process › metabolic disease › mineral metabolism disease › iron metabolism disease › hemosiderosis › pulmonary hemosiderosis
Related subtypes (2): ocular siderosis, hereditary hemochromatosis
Subtypes (2): hemosiderosis, pulmonary, with deficiency of gamma-a globulin, Lane Hamilton syndrome
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: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE1/PHASE2 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05937191 | PHASE1/PHASE2 | RECRUITING | Leflunomide for Idiopathic Pulmonary Hemosiderosis in Children |
| NCT02985346 | EARLY_PHASE1 | UNKNOWN | Efficacy of Bone Marrow Mesenchymal Stem Cell in Pulmonary Hemosiderosis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| LEFLUNOMIDE | 4 | 1 |
Related Atlas pages
- Drugs: Leflunomide