LIPT1, lipoyltransferase 1, 51601

N. diseases: 55; N. variants: 5
Disease: Acidosis, Lactic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 GeneticVariation phenotype BEFREE Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe lactic acidosis resulting in neonatal death and/or poor neurocognitive outcomes. 29681092 2018
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.110 Biomarker phenotype HPO