primary pulmonary hypertension
MIM.178600
PPH
Types
autosomal recessive form of PPH (MIM.265400)
Synopsis
numerous plexiform vascular lesions.
plexogenic pulmonary arteriopathy
Etiology
Locus PPH1 at 2q33: germline mutations in the BMPR2 gene (MIM.600799)
Associations
hereditary hemorrhagic telangiectasia type 2 (HHT2) (MIM.600376)
- germline mutation in the ACVRL1 (ALK1) gene (MIM.601284)
References
Knight JA, Wilson JF. Primary pulmonary hypertension in childhood: a report of two brothers. Pediatr Pathol. 1985;4(1-2):13-23. PMID: 2937032