Diffuse alveolar hemorrhage

Summary

Diffuse alveolar hemorrhage (MONDO:0019540) is a disease and 2 clinical trials. Top therapeutic interventions include avacopan. A subtype of respiratory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 34
• Clinical trials: 2

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	1	Europe	Validated

Signs & symptoms

Clinical features (HPO)

34 HPO clinical features (Orphanet curated; top 34 by frequency):

HPO ID	Term	Frequency
HP:0002113	Pulmonary infiltrates	Very frequent (80-99%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0001903	Anemia	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002105	Hemoptysis	Frequent (30-79%)
HP:0002960	Autoimmunity	Frequent (30-79%)
HP:0003565	Elevated erythrocyte sedimentation rate	Frequent (30-79%)
HP:0012735	Cough	Frequent (30-79%)
HP:0025179	Ground-glass opacification on pulmonary HRCT	Frequent (30-79%)
HP:0000093	Proteinuria	Occasional (5-29%)
HP:0000152	Abnormality of head or neck	Occasional (5-29%)
HP:0000707	Abnormality of the nervous system	Occasional (5-29%)
HP:0000790	Hematuria	Occasional (5-29%)
HP:0000924	Abnormality of the skeletal system	Occasional (5-29%)
HP:0000951	Abnormality of the skin	Occasional (5-29%)
HP:0001873	Thrombocytopenia	Occasional (5-29%)
HP:0001974	Leukocytosis	Occasional (5-29%)
HP:0002094	Dyspnea	Occasional (5-29%)
HP:0002923	Rheumatoid factor positive	Occasional (5-29%)
HP:0003259	Elevated circulating creatinine concentration	Occasional (5-29%)
HP:0003453	Antineutrophil antibody positivity	Occasional (5-29%)
HP:0003493	Antinuclear antibody positivity	Occasional (5-29%)
HP:0003613	Antiphospholipid antibody positivity	Occasional (5-29%)
HP:0004887	Respiratory failure requiring assisted ventilation	Occasional (5-29%)
HP:0005421	Decreased circulating complement C3 concentration	Occasional (5-29%)
HP:0012418	Hypoxemia	Occasional (5-29%)
HP:0045042	Decreased circulating complement C4 concentration	Occasional (5-29%)
HP:0045050	Increased DLCO	Occasional (5-29%)
HP:0100749	Chest pain	Occasional (5-29%)
HP:0002091	Restrictive ventilatory defect	Very rare (<1-4%)
HP:0002206	Pulmonary fibrosis	Very rare (<1-4%)
HP:0006536	Airway obstruction	Very rare (<1-4%)
HP:0025174	Irregular septal thickening on pulmonary HRCT	Very rare (<1-4%)
HP:0030950	Pulmonary venous hypertension	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	diffuse alveolar hemorrhage
Mondo ID	MONDO:0019540
Orphanet	90060
UMLS	C4476767
MedGen	1381751
GARD	0019110
Is cancer (heuristic)	no

Also known as: diffuse alveolar haemorrhage (disease) · diffuse alveolar hemorrhage · diffuse alveolar hemorrhage (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of respiratory system disorder. 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 › diffuse alveolar hemorrhage

Related subtypes (58): lower respiratory tract disorder, respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, upper respiratory tract disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, diaphragm disorder, pulmonary tuberculosis, altitude sickness, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, bronchogenic cyst, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, bronchopulmonary dysplasia, infantile apnea, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis

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	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07556484	PHASE1	RECRUITING	Pharmacokinetics Of Emulsified Avacopan Applied By NG Tube
NCT04098445	Not specified	RECRUITING	TRANSPIRE: Lung Injury in a Longitudinal Cohort of Pediatric HSCT Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
AVACOPAN	4	1