MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Acidosis (D000138)
Parent Node:
expand
Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node:
expand
Cardiomyopathy, Hypertrophic (D002312)
Parent Node:
expand
Mitochondrial Diseases (D028361)
Parent Node:
expand
Muscle Weakness (D018908)
..Starting node
..expand
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)

       Child Nodes:



 Sister Nodes: 
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandCamera Marugo Cohen syndrome (C537964)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCOENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)  LSDB  L: 00090;
..expandEpisodic Muscle Weakness, X-Linked (C564565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:249
Name:Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
Definition:
Alternative IDs:OMIM:611126
ParentIDs:MESH:D000138|MESH:D000592|MESH:D002312|MESH:D018908|MESH:D028361
TreeNumbers:C05.651.515/C567006 |C10.597.613.593/C567006 |C14.280.238.100/C567006 |C14.280.484.150.070.160/C567006 |C16.320.565.100/C567006 |C18.452.076.176/C567006 |C18.452.648.100/C567006 |C18.452.660/C567006 |C23.550.695/C567006 |C23.888.592.608.593/C567006
Synonyms:ACAD9 DEFICIENCY |MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C567006
MeSH: C567006
OMIM: 611126;
MSeqDR LSDB: 00419;  
Genes: ACAD9;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002181Cerebral edema
3 HP:0001635Congestive heart failure
4 HP:0003215Dicarboxylic aciduriaOccasional
5 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
6 HP:0002910Elevated hepatic transaminases
7 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
8 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
9 HP:0001399Hepatic failure
10 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
11 HP:0001943Hypoglycemia
12 HP:0003128Lactic acidosis
13 HP:0001414Microvesicular hepatic steatosis
14 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
15 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
16 HP:0001297Stroke
NAMDC:  Strokes or Stroke-like lesions*
17 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_014049.4(ACAD9):c.1846C>T (p.Pro616Ser)-1-Likely pathogenic863224845RCV000199949; NMedGen:C1970173,OMIM:611126,ORPHA:999013128631430128631430NM_014049.4:c.1846C>TNP_054768.2:p.Pro616SerNC_000003.11:g.128631430C>T-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.-44_-41dupTAAG28976ACAD9Benign;Pathogenic387906242RCV000001073; RCV000201519; NMedGen:C1970173,OMIM:611126,ORPHA:99901; MedGen:CN1693743128598491128598494NM_014049.4:c.-44_-41dupTAAGNC_000003.11:g.128598491_128598494dupTAAGOMIM Allelic Variant:611103.0001C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN169374 not specified
NM_014049.4(ACAD9):c.1A>G (p.Met1Val)28976ACAD9Pathogenic773949927RCV000201531; NMedGen:C1970173,OMIM:611126,ORPHA:999013128598535128598535NM_014049.4:c.1A>GNP_054768.2:p.Met1ValNC_000003.11:g.128598535A>G-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.2T>G (p.Met1Arg)28976ACAD9Pathogenic863225057RCV000201549; NMedGen:C1970173,OMIM:611126,ORPHA:999013128598536128598536NM_014049.4:c.2T>GNP_054768.2:p.Met1ArgNC_000003.11:g.128598536T>G-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.130T>A (p.Phe44Ile)28976ACAD9Pathogenic387907041RCV000023866; NMedGen:C1970173,OMIM:611126,ORPHA:999013128598664128598664NM_014049.4:c.130T>ANP_054768.2:p.Phe44IleNC_000003.11:g.128598664T>AOMIM Allelic Variant:611103.0002C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.151-2A>G28976ACAD9Pathogenic863225058RCV000201557; NMedGen:C1970173,OMIM:611126,ORPHA:999013128603494128603494NM_014049.4:c.151-2A>GNC_000003.11:g.128603494A>G-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.359delT (p.Phe120Serfs)28976ACAD9Likely pathogenic;Pathogenic863224844RCV000199949; RCV000201606; NMedGen:C1970173,OMIM:611126,ORPHA:999013128614165128614165NM_014049.4:c.359delTNP_054768.2:p.Phe120SerfsNC_000003.11:g.128614165delT-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.359delT (p.Phe120Serfs)28976ACAD9Likely pathogenic;Pathogenic863224844RCV000199949; RCV000201606; NMedGen:C1970173,OMIM:611126,ORPHA:999013128614165128614165NM_014049.4:c.359delTNP_054768.2:p.Phe120SerfsNC_000003.11:g.128614165delT-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN221809 not provided
NM_014049.4(ACAD9):c.796C>T (p.Arg266Trp)28976ACAD9Pathogenic753711253RCV000201531; NMedGen:C1970173,OMIM:611126,ORPHA:999013128618292128618292NM_014049.4:c.796C>TNP_054768.2:p.Arg266TrpNC_000003.11:g.128598535A>G-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.797G>A (p.Arg266Gln)28976ACAD9Pathogenic387907042RCV000023867; NMedGen:C1970173,OMIM:611126,ORPHA:999013128618293128618293NM_014049.4:c.797G>ANP_054768.2:p.Arg266GlnNC_000003.11:g.128618293G>AOMIM Allelic Variant:611103.0003C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.976G>C (p.Ala326Pro)28976ACAD9Pathogenic115532916RCV000023868; RCV000198883; NMedGen:C1970173,OMIM:611126,ORPHA:99901; MedGen:CN2218093128622922128622922NM_014049.4:c.976G>CNP_054768.2:p.Ala326ProNC_000003.11:g.128622922G>A,NC_000003.11:g.128622922G>COMIM Allelic Variant:611103.0005C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN221809 not provided
NM_014049.4(ACAD9):c.976G>A (p.Ala326Thr)28976ACAD9Benign;Pathogenic115532916RCV000123467; RCV000201693; NMedGen:C1970173,OMIM:611126,ORPHA:99901; MedGen:CN1693743128622922128622922NM_014049.4:c.976G>ANP_054768.2:p.Ala326ThrNC_000003.11:g.128622922G>A,NC_000003.11:g.128622922G>C-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN169374 not specified
NM_014049.4(ACAD9):c.976G>A (p.Ala326Thr)28976ACAD9Benign;Pathogenic115532916RCV000123467; RCV000201693; NMedGen:C1970173,OMIM:611126,ORPHA:99901; MedGen:CN1693743128622922128622922NM_014049.4:c.976G>ANP_054768.2:p.Ala326ThrNC_000003.11:g.128622922G>A,NC_000003.11:g.128622922G>C-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN169374 not specified
NM_014049.4(ACAD9):c.1015T>G (p.Phe339Val)28976ACAD9Pathogenic863225056RCV000201549; NMedGen:C1970173,OMIM:611126,ORPHA:999013128622961128622961NM_014049.4:c.1015T>GNP_054768.2:p.Phe339ValNC_000003.11:g.128598536T>G-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1030-1G>T28976ACAD9Pathogenic773586510RCV000201722; NMedGen:C1970173,OMIM:611126,ORPHA:999013128623228128623228NM_014049.4:c.1030-1G>TNC_000003.11:g.128623228G>T-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1237G>A (p.Glu413Lys)28976ACAD9Pathogenic149753643RCV000201643; NMedGen:C1970173,OMIM:611126,ORPHA:999013128625051128625051NM_014049.4:c.1237G>ANP_054768.2:p.Glu413LysNC_000003.11:g.128625051G>A-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)28976ACAD9Pathogenic368949613RCV000023865; RCV000201722; NMedGen:C1970173,OMIM:611126,ORPHA:999013128625063128625063NM_014049.4:c.1249C>TNP_054768.2:p.Arg417CysNC_000003.11:g.128625063C>TOMIM Allelic Variant:611103.0004C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)28976ACAD9Pathogenic368949613RCV000023865; RCV000201722; NMedGen:C1970173,OMIM:611126,ORPHA:999013128625063128625063NM_014049.4:c.1249C>TNP_054768.2:p.Arg417CysNC_000003.11:g.128625063C>TOMIM Allelic Variant:611103.0004C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1298G>A (p.Arg433Gln)28976ACAD9Pathogenic781156571RCV000201557; NMedGen:C1970173,OMIM:611126,ORPHA:999013128627047128627047NM_014049.4:c.1298G>ANP_054768.2:p.Arg433GlnNC_000003.11:g.128603494A>G-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1552C>T (p.Arg518Cys)28976ACAD9Pathogenic150283105RCV000201643; RCV000201736; NMedGen:C1970173,OMIM:611126,ORPHA:999013128628253128628253NM_014049.4:c.1552C>TNP_054768.2:p.Arg518CysNC_000003.11:g.128628253C>T-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1552C>T (p.Arg518Cys)28976ACAD9Pathogenic150283105RCV000201643; RCV000201736; NMedGen:C1970173,OMIM:611126,ORPHA:999013128628253128628253NM_014049.4:c.1552C>TNP_054768.2:p.Arg518CysNC_000003.11:g.128628253C>T-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1564-6_1569del28976ACAD9Pathogenic863225059RCV000201736; NMedGen:C1970173,OMIM:611126,ORPHA:999013128628858128628869NM_014049.4:c.1564-6_1569delNC_000003.11:g.128628858_128628869delTCCCAGACCATC-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of
NM_014049.4(ACAD9):c.1594C>T (p.Arg532Trp)28976ACAD9Pathogenic377022708RCV000023869; RCV000200123; RCV000201606; NMedGen:C1970173,OMIM:611126,ORPHA:99901; MedGen:CN2218093128628894128628894NM_014049.4:c.1594C>TNP_054768.2:p.Arg532TrpNC_000003.11:g.128628894C>TOMIM Allelic Variant:611103.0006C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN221809 not provided
NM_014049.4(ACAD9):c.1594C>T (p.Arg532Trp)28976ACAD9Pathogenic377022708RCV000023869; RCV000200123; RCV000201606; NMedGen:C1970173,OMIM:611126,ORPHA:99901; MedGen:CN2218093128628894128628894NM_014049.4:c.1594C>TNP_054768.2:p.Arg532TrpNC_000003.11:g.128628894C>TOMIM Allelic Variant:611103.0006C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN221809 not provided
NM_014049.4(ACAD9):c.1595G>A (p.Arg532Gln)28976ACAD9Pathogenic770127110RCV000201693; NMedGen:C1970173,OMIM:611126,ORPHA:999013128628895128628895NM_014049.4:c.1595G>ANP_054768.2:p.Arg532GlnNC_000003.11:g.128628895G>A-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of; CN169374 not specified
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000177646 MSeqDR Search EnsemblACAD91619acyl-CoA dehydrogenase family, member 9 [Source:HGNC Symbol;Acc:21497]00419

*Click on gene and variants to check details. Or view all variants in new page