LIPT1, lipoyltransferase 1, 51601

N. diseases: 55; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. 29681092 2018
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. 24256811 2014
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET Lipoic acid biosynthesis defects. 24777537 2014
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 CausalMutation disease CLINVAR Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 24341803 2013
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 24341803 2013
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 Biomarker disease CTD_human
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND
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
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease HPO