ONTOLOGY REPORT - ANNOTATIONS


Term:multiple acyl-CoA dehydrogenase deficiency
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Accession:DOID:0060358 term browser browse the term
Definition:An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).
Synonyms:exact_synonym: ETFA Deficiencies;   ETFB Deficiencies;   ETFDH Deficiencies;   Electron Transfer Flavoprotein Alpha Subunit Deficiency;   Electron Transfer Flavoprotein Beta Subunit Deficiency;   Electron Transfer Flavoprotein Deficiency;   Electron Transfer Flavoprotein Dehydrogenase Deficiency;   Ethylmalonic Adipic Aciduria;   Ethylmalonic-Adipic Acidurias;   GA II;   GLUTARIC ACIDEMIA II;   Glutaric Acidemia Type II;   Glutaric Acidemia, Type 2;   Glutaric Aciduria II;   Glutaric Aciduria IIA;   Glutaric Aciduria IIB;   Glutaric Aciduria IIC;   Glutaric Aciduria Type 2;   Glutaric Aciduria Type II;   MAD deficiency;   MADD;   MADD (Multiple Acyl CoA Dehydrogenase Deficiency);   MADDs (Multiple Acyl-CoA Dehydrogenase Deficiency);   Multiple FAD Dehydrogenase Deficiency;   electron transfer flavoprotein ubiquinone oxidoreductase deficiency
 narrow_synonym: EMA GLUTARIC ACIDEMIA IIA;   ETFA DEFICIENCY;   ETFB DEFICIENCY;   ETFDH DEFICIENCY;   ETHYLMALONIC-ADIPICACIDURIA;   GLUTARIC ACIDEMIA IIB;   GLUTARIC ACIDEMIA IIC;   GLUTARIC ACIDEMIA IIC, LATE-ONSET
 primary_id: MESH:D054069
 alt_id: OMIM:231680;   RDO:0002533
 xref: ORDO:26791
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multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Etfa electron transfer flavoprotein subunit alpha JBrowse link 8 60,028,786 60,086,352 RGD:7240710
RGD:8554872
G Etfb electron transfer flavoprotein subunit beta JBrowse link 1 98,472,776 98,486,940 RGD:7240710
RGD:8554872
G Etfdh electron transfer flavoprotein dehydrogenase JBrowse link 2 178,367,547 178,389,641 RGD:7240710
RGD:8554872
G Flad1 flavin adenine dinucleotide synthetase 1 JBrowse link 2 188,726,994 188,736,462 RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:8554872
G RGD1560010 RGD1560010 JBrowse link 2 178,389,986 178,393,118 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        mitochondrial metabolism disease 330
          multiple acyl-CoA dehydrogenase deficiency 12
            Glutaric Aciduria 2 0
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            mitochondrial metabolism disease 330
              multiple acyl-CoA dehydrogenase deficiency 12
                Glutaric Aciduria 2 0
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