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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
Interactions
disease interactions
Specific
alveolar capillary dysplasia (includes: congenital alveolar capillary dysplasia, CACD, familial persistent pulmonary hypertension of the newborn)
General
genetic disease of the lung
primary pulmonary hypertension (PPH)
Database Correlations
OMIM correlations
Entrez Gene 5477
References
- Nichols WC et al
Localization of the gene for familial primary pulmonary
hypertension to chromosome 2q31-32.
Nature Genetics 15:277-80, 1997
PMID: 9054941
- OMIM 178600