Primary pulmonary hypertension-6 (PPH6) is characterized by markedly elevated pulmonary arterial hypertension, associated with reduced oxygen saturation and diffuse ground-glass opacities on chest x-ray. Lung biopsy shows thickening of the alveolar septae and abnormally proliferating capillaries (Postma et al., 2023).
For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600). [from OMIM]
Also known as: CALPAIN4, CANP, CANPS, CAPN4, CDPS, CSS1, PPH6, CAPNS1
Summary: calpain small subunit 1
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