pulmonary venoocclusive disease 2

Term ID

DOID:0081269

Synonyms

• FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS

Definition

A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. https://pubmed.ncbi.nlm.nih.gov/24292273/

References

• OMIM:234810

Ontology

Human Disease   ( DOID:0081269 )