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Term:medium chain acyl-CoA dehydrogenase deficiency
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Accession:DOID:0080153 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. (DO)
Synonyms:exact_synonym: ACADM Deficiency;   ACADMD;   Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of;   Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency;   MCAD Deficiency;   MCADH Deficiency;   Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
 related_synonym: Mcad Deficiency, Modifier Of
 primary_id: MESH:C536038;   RDO:0001452
 alt_id: OMIM:201450
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medium chain acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acadm acyl-CoA dehydrogenase medium chain JBrowse link 2 260,124,418 260,148,589 RGD:7240710
G Asb17 ankyrin repeat and SOCS box-containing 17 JBrowse link 2 260,039,651 260,051,644 RGD:8554872
G Msh4 mutS homolog 4 JBrowse link 2 260,057,708 260,108,897 RGD:8554872
G Rabggtb Rab geranylgeranyltransferase subunit beta JBrowse link 2 260,110,309 260,115,574 RGD:8554872
G Slc44a5 solute carrier family 44, member 5 JBrowse link 2 260,185,238 260,535,723 RGD:8554872
G St6galnac3 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 JBrowse link 2 259,379,653 259,918,813 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        lipid metabolism disorder 741
          medium chain acyl-CoA dehydrogenase deficiency 6
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            lipid metabolism disorder 741
              medium chain acyl-CoA dehydrogenase deficiency 6
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