Search Result

 Top
1 to 4 of 4
Entry Name Description Category Pathway Gene
H00489 LCHAD deficiency
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency 		Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by ... Inherited metabolic disorder HADHA [HSA:3030] [KO:K07515]
H01352 Mitochondrial trifunctional protein deficiency ... alpha-subunits harboring long-chain enoyl-CoA hydratase and long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) and four beta-subunits encoding long-chain 3-ketoacyl-CoA thiolase (LCKAT). This disease includes ... Inherited metabolic disorder, Mitochondrial disease (MTPD1) HADHA [HSA:3030] [KO:K07515]
(MTPD2) HADHB [HSA:3032] [KO:K07509]
H01364 3-Hydroxyacyl-CoA dehydrogenase deficiency
HADH deficiency
SCHAD deficiency 		3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid ... Inherited metabolic disorder, Mitochondrial disease HADH [HSA:3033] [KO:K00022]
H01478 Machado-Joseph disease
Spinocerebellar ataxia 3 		Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the most common hereditary ataxias and is distributed worldwide. MJD is an autosomal dominant neurodegenerative ... Neurodegenerative disease ATXN3 (CAG repeat expansion) [HSA:4287] [KO:K11863]
1 to 4 of 4
[ KEGG | DISEASE | DRUG | MEDICUS ]