familial primary pulmonary hypertension

Genetics

• autosomal dominant with reduced penetrance
• associated with mutations in the gene for bone morphogenetic protein receptor 2

Clinical manifestations

see primary pulmonary hypertension

More general terms

• primary pulmonary hypertension (PPH)
• genetic disease of the lung

More specific terms

• alveolar capillary dysplasia (includes: congenital alveolar capillary dysplasia, CACD, familial persistent pulmonary hypertension of the newborn)

Database

• OMIM: https://mirror.omim.org/entry/178600
• OMIM: https://mirror.omim.org/entry/600799
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5477