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GENATLAS PHENOTYPE

last update : 28-02-2017

Symbol	PPH4
Location	2p23.3
Name	pulmonary hypertension, primary, 4
Corresponding gene	KCNK3
Main clinical features	rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy
Genetic determination	autosomal dominant
Function/system disorder	respiratory
Type	disease

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