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:
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Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node:
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Mitochondrial Diseases (D028361)
..Starting node
..expand
Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069)

       Child Nodes:
........expandGlutaric aciduria 2 (C536834)



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7452
Name:Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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).
Alternative IDs:OMIM:231680
ParentIDs:MESH:D000592|MESH:D028361
TreeNumbers:C16.320.565.100.614 |C18.452.648.100.614 |C18.452.660.612
Synonyms:Aciduria, Ethylmalonic-Adipic |Acidurias, Ethylmalonic-Adipic |Electron Transfer Flavoprotein Alpha Subunit Deficiency |Electron Transfer Flavoprotein Beta Subunit Deficiency |Electron Transfer Flavoprotein Deficiency |Electron Transfer Flavoprotein Dehydroge
Slim Mappings:Genetic disease (inborn)|Metabolic disease
Reference: MedGen: D054069
MeSH: D054069
OMIM: 231680;
MSeqDR LSDB: 00439;  
Genes: ETFA; ETFB; ETFDH;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0000078Abnormality of the genital system
4 HP:0000377Abnormality of the pinna
5 HP:0000519Congenital cataract
6 HP:0003490Defective dehydrogenation of isovaleryl CoA and butyryl CoA
7 HP:0005280Depressed nasal bridge
8 HP:0003647Electron transfer flavoprotein-ubiquinone oxidoreductase defect
9 HP:0003219Ethylmalonic aciduria
10 HP:0002909Generalized aminoaciduria
11 HP:0002171Gliosis
12 HP:0003530Glutaric acidemia
13 HP:0003150Glutaric aciduria
14 HP:0003076Glycosuria
15 HP:0002614Hepatic periportal necrosis
16 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
17 HP:0002240Hepatomegaly
18 HP:0000348High forehead
19 HP:0001943Hypoglycemia
20 HP:0001325Hypoglycemic coma
21 HP:0000952Jaundice
22 HP:0000256Macrocephaly
23 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
24 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
25 HP:0002018Nausea
26 HP:0003811Neonatal death
27 HP:0001302Pachygyria
28 HP:0000113Polycystic kidney dysplasia
29 HP:0000114Proximal tubulopathy
30 HP:0002089Pulmonary hypoplasia
31 HP:0000803Renal cortical cysts
32 HP:0002098Respiratory distress
33 HP:0000506Telecanthus
34 HP:0002013Vomiting
35 HP:0000260Wide anterior fontanel
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs)2110ETFDHPathogenic796051964RCV000175781; RCV000185906; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:22886006; MedGen:CN2218094159601635159601635NM_004453.3:c.51dupTNP_004444.2:p.Ala18CysfsNC_000004.11:g.159601635dupT-C0268596 231680 Glutaric aciduria, type 2; CN221809 not provided
NM_004453.3(ETFDH):c.1001T>C (p.Leu334Pro)2110ETFDHPathogenic377686388RCV000180601; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:228860064159620167159620167NM_004453.3:c.1001T>CNP_004444.2:p.Leu334ProNC_000004.11:g.159620167T>C-C0268596 231680 Glutaric aciduria, type 2
NM_004453.3(ETFDH):c.1234G>T (p.Glu412Ter)2110ETFDHPathogenic398124151RCV000173803; RCV000081076; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:22886006; MedGen:CN2218094159624692159624692NM_004453.3:c.1234G>TNP_004444.2:p.Glu412TerNC_000004.11:g.159624692G>T-C0268596 231680 Glutaric aciduria, type 2; CN221809 not provided
NM_004453.3(ETFDH):c.1367C>T (p.Pro456Leu)2110ETFDHPathogenic398124152RCV000174102; RCV000081077; RCV000198866; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:22886006; MedGen:CN2218094159627422159627422NM_004453.3:c.1367C>TNP_004444.2:p.Pro456LeuNC_000004.11:g.159627422C>THGMD:CM024526C0268596 231680 Glutaric aciduria, type 2; CN221809 not provided
NM_004453.3(ETFDH):c.1367C>T (p.Pro456Leu)2110ETFDHPathogenic398124152RCV000174102; RCV000081077; RCV000198866; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:22886006; MedGen:CN2218094159627422159627422NM_004453.3:c.1367C>TNP_004444.2:p.Pro456LeuNC_000004.11:g.159627422C>THGMD:CM024526C0268596 231680 Glutaric aciduria, type 2; CN221809 not provided
NM_004453.3(ETFDH):c.1487T>C (p.Leu496Pro)2110ETFDHPathogenic863224869RCV000198866; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:228860064159627799159627799NM_004453.3:c.1487T>CNP_004444.2:p.Leu496ProNC_000004.11:g.159627799T>C-C0268596 231680 Glutaric aciduria, type 2; CN221809 not provided
NM_004453.3(ETFDH):c.1570_1571delCT (p.Leu524Glufs)2110ETFDHPathogenic727503919RCV000174332; RCV000153202; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:22886006; MedGen:CN2218094159627882159627883NM_004453.3:c.1570_1571delCTNP_004444.2:p.Leu524GlufsNC_000004.11:g.159627882_159627883delCT-C0268596 231680 Glutaric aciduria, type 2; CN221809 not provided
NM_004453.3(ETFDH):c.1823delG (p.Gly608Valfs)2110ETFDHPathogenic398124153RCV000174536; RCV000081078; NMedGen:C0268596,OMIM:231680,ORPHA:26791,SNOMED CT:22886006; MedGen:CN2218094159629648159629648NM_004453.3:c.1823delGNP_004444.2:p.Gly608ValfsNC_000004.11:g.159629648delG-C0268596 231680 Glutaric aciduria, type 2; CN221809 not provided
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140374 MSeqDR Search EnsemblETFA100electron-transfer-flavoprotein, alpha polypeptide [Source:HGNC Symbol;Acc:3481]00439
ENSG00000105379 MSeqDR Search EnsemblETFB100electron-transfer-flavoprotein, beta polypeptide [Source:HGNC Symbol;Acc:3482]00439
ENSG00000171503 MSeqDR Search EnsemblETFDH107electron-transferring-flavoprotein dehydrogenase [Source:HGNC Symbol;Acc:3483]00439

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