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GENATLAS PHENOTYPE

last update : 21-12-2009

Symbol	PPH1
Location	2q33.2
HGNC id	9252
Name	pulmonary hypertension, primary
Corresponding gene	BMPR2
Other symbol(s)	FPAH, IPAH
Main clinical features	familial or isolated, reduced penetrance, more frequent in females, onset in the third or fourth decades of life, leading to right failure therapy by oral calcium antagonists and anticoagulants, including sporadic cases characterized by monoclonal plexiforms lesions of proliferating endothelial cells in pulmonary arteries, leading to elevated pulmonary artery pressures, right ventricular failure and death viral infections, including HIV and Kaposi sarcoma-associated herpesvirus (KSHV), have been implicated as etiological agents in the development of PPH1, that is also reported as a complication of Castleman disease
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Gene product

Name	bone morphogenetic protein receptor type 2 (BMPR2)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
nonsense		haploinsufficiency	mostly in the kinase domain

Remark(s)