Trait

Diffuse alveolar hemorrhage

A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.

HPO HP:0025420

Also called: Diffuse alveolar haemorrhage
Body system: Abnormality of blood and blood-forming tissues Abnormality of the cardiovascular system Abnormality of the respiratory system

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17 condition reports read genes linked to this trait

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23 genes linked to Diffuse alveolar hemorrhage

Changes in these genes cause rare conditions in which Diffuse alveolar hemorrhage is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
COL3A1collagen type III alpha 1 chain	Always	In 1 condition
HMOX1heme oxygenase 1	Always	In 1 condition
PDCD1programmed cell death 1	Always	In 1 condition
EIF2AK4eukaryotic translation initiation factor 2 alpha kinase 4	Often (30–79%)	In 1 condition
NLRC4NLR family CARD domain containing 4	Often (30–79%)	In 1 condition
BCORBCL6 corepressor	Sometimes (5–29%)	In 1 condition
CTLA4cytotoxic T-lymphocyte associated protein 4	Sometimes (5–29%)	In 1 condition
FIP1L1factor interacting with PAPOLA and CPSF1	Sometimes (5–29%)	In 1 condition
HLA-DPA1major histocompatibility complex, class II, DP alpha 1	Sometimes (5–29%)	In 1 condition
HLA-DPB1major histocompatibility complex, class II, DP beta 1	Sometimes (5–29%)	In 1 condition
IRF2BP2interferon regulatory factor 2 binding protein 2	Sometimes (5–29%)	In 1 condition
NABP1nucleic acid binding protein 1	Sometimes (5–29%)	In 1 condition
NPM1nucleophosmin 1	Sometimes (5–29%)	In 1 condition
NUMA1nuclear mitotic apparatus protein 1	Sometimes (5–29%)	In 1 condition
PMLPML nuclear body scaffold	Sometimes (5–29%)	In 1 condition
PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha	Sometimes (5–29%)	In 1 condition
PRTN3proteinase 3	Sometimes (5–29%)	In 1 condition
PTPN22protein tyrosine phosphatase non-receptor type 22	Sometimes (5–29%)	In 1 condition
RARAretinoic acid receptor alpha	Sometimes (5–29%)	In 1 condition
STAT3signal transducer and activator of transcription 3	Sometimes (5–29%)	In 1 condition
STAT5Bsignal transducer and activator of transcription 5B	Sometimes (5–29%)	In 1 condition
TBL1XR1TBL1X/Y related 1	Sometimes (5–29%)	In 1 condition
ZBTB16zinc finger and BTB domain containing 16	Sometimes (5–29%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Pulmonary hemorrhage

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.19-9814e911.

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