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Mitochondrial Diseases (D028361)
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Muscle Weakness (D018908)
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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.-168T>C28976ACAD9Uncertain significance183973851RCV000362471; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128598367128598367-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.-91G>T28976ACAD9Uncertain significance749695064RCV000272903; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128598444128598444-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.-57_-56delGT28976ACAD9Benign397874507RCV000359314; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128598478128598479-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.-57_-56dupGT28976ACAD9Uncertain significance397874507RCV000309266; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128598478128598479-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.-44_-41dupTAAG28976ACAD9Conflicting interpretations of pathogenicity387906242RCV000001073; RCV000201519; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN1693743128598491128598494OMIM Allelic Variant:611103.0001C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.41C>T (p.Ala14Val)28976ACAD9Uncertain significance886057954RCV000324385; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128598575128598575-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.44G>C (p.Arg15Pro)28976ACAD9Uncertain significance886057955RCV000373076; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128598578128598578-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.130T>A (p.Phe44Ile)28976ACAD9Pathogenic387907041RCV000023866; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128598664128598664OMIM Allelic Variant:611103.0002,UniProtKB (protein):Q9H845#VAR_071892C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.152A>T (p.Lys51Ile)28976ACAD9Uncertain significance149931573RCV000259644; RCV000196533; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN1693743128603497128603497-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.195T>C (p.Asn65=)28976ACAD9Uncertain significance144978857RCV000319618; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128603540128603540-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.346+15delC28976ACAD9Uncertain significance886057956RCV000374233; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128612514128612514-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.379A>C (p.Arg127=)28976ACAD9Benign1680778RCV000293617; RCV000676683; RCV000152729; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN517202; MedGen:CN1693743128614185128614185-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.442A>G (p.Ile148Val)28976ACAD9Uncertain significance202119704RCV000329932; RCV000196891; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN1693743128614248128614248-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NR_033426.1(ACAD9):n.887C>T28976ACAD9Pathogenic762521317RCV000412610; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128615334128615334OMIM Allelic Variant:611103.0007C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.555T>G (p.Ser185Arg)28976ACAD9Uncertain significance781738719RCV000389193; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128616475128616475-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.787T>C (p.Leu263=)28976ACAD9Benign/Likely benign1979529RCV000294963; RCV000123466; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN1693743128618283128618283-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.797G>A (p.Arg266Gln)28976ACAD9Pathogenic387907042RCV000023867; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128618293128618293OMIM Allelic Variant:611103.0003,UniProtKB (protein):Q9H845#VAR_071897C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.928G>A (p.Val310Ile)28976ACAD9Uncertain significance139073821RCV000344896; RCV000416256; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN5172023128621441128621441-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.976G>A (p.Ala326Thr)28976ACAD9Conflicting interpretations of pathogenicity115532916RCV000395019; RCV000676686; RCV000123467; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN517202; MedGen:CN1693743128622922128622922UniProtKB (protein):Q9H845#VAR_071899C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.976G>C (p.Ala326Pro)28976ACAD9Pathogenic115532916RCV000023868; RCV000198883; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN5172023128622922128622922OMIM Allelic Variant:611103.0005C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1062C>T (p.Tyr354=)28976ACAD9Uncertain significance886057957RCV000290979; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128623261128623261-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1069G>A (p.Glu357Lys)28976ACAD9Uncertain significance765411526RCV000345951; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128623268128623268-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1190C>T (p.Ala397Val)28976ACAD9Uncertain significance768894091RCV000390343; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128625004128625004-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)28976ACAD9Pathogenic368949613RCV000023865; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128625063128625063OMIM Allelic Variant:611103.0004,UniProtKB (protein):Q9H845#VAR_071902C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1258C>T (p.Arg420Cys)28976ACAD9Uncertain significance202147766RCV000301704; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128625072128625072-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1279-7A>G28976ACAD9Benign1683787RCV000361183; RCV000676688; RCV000152730; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN517202; MedGen:CN1693743128627021128627021-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1331C>T (p.Ala444Val)28976ACAD9Uncertain significance549861940RCV000401356; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128627080128627080-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1398C>T (p.Thr466=)28976ACAD9Uncertain significance772732061RCV000298908; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128627855128627855-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1415G>A (p.Arg472Gln)28976ACAD9Uncertain significance762081272RCV000353818; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128627872128627872-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1430G>A (p.Arg477Gln)28976ACAD9Benign/Likely benign4494951RCV000263512; RCV000676689; RCV000123469; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN517202; MedGen:CN1693743128627887128627887UniProtKB (protein):Q9H845#VAR_033459C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1474C>T (p.Pro492Ser)28976ACAD9Uncertain significance886057958RCV000318670; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128627931128627931-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1476C>T (p.Pro492=)28976ACAD9Benign876755RCV000368633; RCV000676690; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN5172023128627933128627933-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1496A>G (p.Asn499Ser)28976ACAD9Uncertain significance369787602RCV000274036; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128628197128628197-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1594C>T (p.Arg532Trp)28976ACAD9Likely pathogenic377022708RCV000023869; RCV000200123; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN5172023128628894128628894OMIM Allelic Variant:611103.0006,UniProtKB (protein):Q9H845#VAR_071905C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1650C>G (p.Ala550=)28976ACAD9Uncertain significance559422558RCV000333696; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128628950128628950-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1675C>A (p.Arg559Ser)28976ACAD9Conflicting interpretations of pathogenicity138871762RCV000388229; RCV000421769; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA99901; MedGen:CN1693743128628975128628975-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1687C>G (p.His563Asp)28976ACAD9Pathogenic1057518752RCV000412667; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128628987128628987OMIM Allelic Variant:611103.0008C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.1765+13T>C28976ACAD9Uncertain significance764208038RCV000289665; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128629669128629669-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.*26C>T28976ACAD9Uncertain significance373417322RCV000325928; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128631476128631476-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.*31G>A28976ACAD9Benign9830739RCV000385238; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128631481128631481-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.*68C>T28976ACAD9Likely benign116106966RCV000290940; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128631518128631518-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.*92A>C28976ACAD9Uncertain significance367762859RCV000340950; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128631542128631542-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.*231_*232delGA28976ACAD9Likely benign146518015RCV000393252; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128631681128631682-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.*331T>G28976ACAD9Likely benign114763241RCV000287321; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128631781128631781-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
NM_014049.4(ACAD9):c.*504G>A28976ACAD9Uncertain significance549991044RCV000342284; NMedGen:C1970173,OMIM:611126, Orphanet:ORPHA999013128631954128631954-C1970173 611126 Acyl-CoA dehydrogenase family, member 9, deficiency of;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000177646 MSeqDR Search EnsemblACAD91645acyl-CoA dehydrogenase family, member 9 [Source:HGNC Symbol;Acc:21497]00419

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