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GTR Home > Conditions/Phenotypes > Pulmonary hypertension, primary, 6

Pulmonary hypertension, primary, 6

Summary

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]

Genes See tests for all associated and related genes

  • Also known as: CALPAIN4, CANP, CANPS, CAPN4, CDPS, CSS1, PPH6, CAPNS1
    Summary: calpain small subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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