PTGS1, prostaglandin-endoperoxide synthase 1, 5742

N. diseases: 318; N. variants: 36
Disease: Congenital lactic acidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis 		0.010 Biomarker disease BEFREE We investigated a family in which the index subject presented with severe congenital lactic acidosis and dysmorphic features associated with a cytochrome c oxidase (COX)-assembly defect and a specific decrease in the synthesis of COX I, the subunit that nucleates COX assembly. 22243966 2012