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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: ICD10CM:E71.313;   NCI:C84907;   ORDO:26791
For additional species annotation, visit the Alliance of Genome Resources.


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multiple acyl-CoA dehydrogenase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Etfa electron transfer flavoprotein subunit alpha ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 2
ClinVar Annotator: match by OMIM:231680
ClinVar Annotator: match by term: ETFA deficiency
OMIM
ClinVar
PMID:1430199, PMID:1882842, PMID:9334218, PMID:12815589, PMID:16510302, PMID:23785301, PMID:25741868, PMID:26409463, PMID:28492532, PMID:29096039 NCBI chr 8:60,028,786...60,086,352
Ensembl chr 8:60,028,789...60,086,403
JBrowse link
G Etfb electron transfer flavoprotein subunit beta ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 2
ClinVar Annotator: match by term: Glutaric acidemia IIB
OMIM
ClinVar
PMID:7912128, PMID:9350306, PMID:12815589, PMID:18289905, PMID:24033266, PMID:25741868, PMID:27081516, PMID:28492532 NCBI chr 1:98,472,776...98,486,940
Ensembl chr 1:98,472,745...98,486,976
JBrowse link
G Etfdh electron transfer flavoprotein dehydrogenase ISO ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Glutaric aciduria, type 2
ClinVar Annotator: match by term: Glutaric acidemia iic, late-onset
ClinVar Annotator: match by term: Glutaric acidemia IIC
OMIM
ClinVar
PMID:7173259, PMID:7173260, PMID:7757062, PMID:12359134, PMID:12815589, PMID:15669683, PMID:16434667, PMID:16510302, PMID:16527485, PMID:17412732, PMID:17584774, PMID:17977044, PMID:18289905, PMID:19249206, PMID:19265687, PMID:19758981, PMID:20023066, PMID:20138856, PMID:20370797, PMID:21088898, PMID:21347544, PMID:21907580, PMID:22013910, PMID:22041377, PMID:22611163, PMID:22664151, PMID:23628458, PMID:23727839, PMID:23785301, PMID:24190796, PMID:24357026, PMID:24516753, PMID:24522293, PMID:25741868, PMID:25827849, PMID:25913573, PMID:26403312, PMID:27000805, PMID:27038534, PMID:27060313, PMID:27270537, PMID:27935074, PMID:28492532, PMID:28914566, PMID:29336361, PMID:29988809, PMID:30022752, PMID:30587156 NCBI chr 2:178,367,547...178,389,641
Ensembl chr 2:178,367,549...178,389,608
JBrowse link
G Flad1 flavin adenine dinucleotide synthetase 1 ISO ClinVar Annotator: match by term: Glutaric aciduria, type 2 ClinVar PMID:27259049 NCBI chr 2:188,726,994...188,736,462
Ensembl chr 2:188,726,994...188,736,462
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        mitochondrial metabolism disease 345
          multiple acyl-CoA dehydrogenase deficiency 4
            Glutaric Aciduria 2 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            mitochondrial metabolism disease 345
              multiple acyl-CoA dehydrogenase deficiency 4
                Glutaric Aciduria 2 0
paths to the root

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