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
Amino Acid Metabolism, Inborn Errors (D000592)
Parent Node:
expand
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_000126.3(ETFA):c.*268A>G2108ETFALikely benign80292319RCV000390524; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157650863276508632-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.*216A>T2108ETFABenign1803550RCV000313076; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157650868476508684-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.*99G>A2108ETFAUncertain significance140121559RCV000370060; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157650880176508801-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.*55C>G2108ETFAUncertain significance886051487RCV000277782; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157650884576508845-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.964-1G>C2108ETFAUncertain significance-1RCV000721997; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157650893976508939-
NM_000126.3(ETFA):c.946G>T (p.Val316Phe)2108ETFAUncertain significance-1RCV000707619; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157651820776518207-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.871A>C (p.Lys291Gln)2108ETFAUncertain significance-1RCV000699658; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157652368576523685-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.826A>C (p.Ile276Leu)2108ETFAUncertain significance141200145RCV000527908; RCV000185869; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN169374157652373076523730-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.797C>T (p.Thr266Met)2108ETFAPathogenic/Likely pathogenic119458970RCV000002712; RCV000332032; RCV000185868; NMedGen:C3278154; MedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202157656677276566772OMIM Allelic Variant:608053.0002,UniProtKB (protein):P13804#VAR_002368C3278154 Glutaric acidemia IIA;
NM_000126.3(ETFA):c.746G>A (p.Arg249His)2108ETFAUncertain significance886051488RCV000325820; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157656682376566823-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.562+11A>T2108ETFAConflicting interpretations of pathogenicity143834701RCV000272341; RCV000443607; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN169374157657870176578701-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.533C>G (p.Thr178Arg)2108ETFAConflicting interpretations of pathogenicity140169311RCV000320514; RCV000726964; RCV000185863; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202; MedGen:CN169374157657874176578741-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.512C>T (p.Thr171Ile)2108ETFABenign/Likely benign1801591RCV000377415; RCV000676979; RCV000078134; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202; MedGen:CN169374157657876276578762HGMD:CM920244,UniProtKB (protein):P13804#VAR_008547C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.495_496delGT (p.Ser167Cysfs)2108ETFAPathogenic1298299792RCV000534299; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157657877876578779-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.367G>A (p.Val123Ile)2108ETFAUncertain significance886051489RCV000266331; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157658027176580271-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.323T>A (p.Ile108Asn)2108ETFAUncertain significance-1RCV000696645; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157658480076584800-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.186+7A>G2108ETFAConflicting interpretations of pathogenicity184587113RCV000323787; RCV000676980; RCV000185862; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202; MedGen:CN169374157658792576587925-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.39+12C>G2108ETFABenign62027051RCV000371483; RCV000078133; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN169374157660367976603679-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.30C>T (p.Leu10=)2108ETFALikely benign1042921735RCV000534010; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157660370076603700-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.20C>T (p.Pro7Leu)2108ETFAUncertain significance-1RCV000702647; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157660371076603710-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.2T>C (p.Met1Thr)2108ETFAConflicting interpretations of pathogenicity727503918RCV000324694; RCV000153198; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202157660372876603728-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.-7G>A2108ETFAUncertain significance779643894RCV000279388; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157660373676603736-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.-56C>A2108ETFAUncertain significance548701046RCV000337033; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157660378576603785-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.-59C>T2108ETFAUncertain significance80155214RCV000375267; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157660378876603788-C0268596 231680 Glutaric aciduria, type 2;
NM_000126.3(ETFA):c.-71T>C2108ETFAUncertain significance116149551RCV000292449; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006157660380076603800-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.697C>T (p.Arg233Cys)2109ETFBUncertain significance761714465RCV000634897; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006195184853651848536-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.598A>G (p.Lys200Glu)2109ETFBUncertain significance920672041RCV000555412; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006195184863551848635-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.577G>A (p.Ala193Thr)2109ETFBUncertain significance200186078RCV000540682; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006195185017451850174-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.565G>A (p.Glu189Lys)2109ETFBUncertain significance-1RCV000691202; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006195185018651850186-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.447C>T (p.Phe149=)2109ETFBBenign144640661RCV000526528; RCV000676880; RCV000185875; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202; MedGen:CN169374195185030451850304-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.227G>A (p.Arg76His)2109ETFBUncertain significance148567433RCV000548291; RCV000185879; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202195185653451856534-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.217-4G>T2109ETFBBenign149557388RCV000634900; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006195185654851856548-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.122T>C (p.Phe41Ser)2109ETFBUncertain significance746082442RCV000538071; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006195185749851857498-C0268596 231680 Glutaric aciduria, type 2;
NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs)2109ETFBBenign74357706RCV000721998; RCV000185872; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN169374195185761551857615-CN169374 not specified;
NM_001014763.1(ETFB):c.135_137del (p.Arg47del)2109ETFBUncertain significance-1RCV000721999; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006195185775651857758-
NM_001985.2(ETFB):c.58-212A>C2109ETFBBenign/Likely benign143144671RCV000625041; RCV000124911; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN169374195185777451857774-C0268596 231680 Glutaric aciduria, type 2;
NM_001985.2(ETFB):c.58-313_58-312insCTGTGG2109ETFBBenign61361626RCV000722009; RCV000185870; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN169374195185787551857880-CN169374 not specified;
NM_004453.3(ETFDH):c.-315G>A2110ETFDHUncertain significance886059192RCV000382620; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159593294159593294-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.-239G>A2110ETFDHLikely benign113981461RCV000290553; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159593370159593370-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.-174A>G2110ETFDHUncertain significance886059193RCV000347745; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159593435159593435-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.-97G>A2110ETFDHUncertain significance183609368RCV000398251; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159593512159593512-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.12G>A (p.Pro4=)2110ETFDHUncertain significance373776053RCV000284618; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159593620159593620-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.34G>C (p.Ala12Pro)2110ETFDHUncertain significance-1RCV000699613; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159593642159593642-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.35-3C>A2110ETFDHUncertain significance1554031296RCV000533347; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159601616159601616-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.51dupT (p.Ala18Cysfs)2110ETFDHPathogenic796051964RCV000175781; RCV000185906; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159601635159601635-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.63T>C (p.Ile21=)2110ETFDHUncertain significance566605780RCV000341906; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159601647159601647-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.79C>T (p.Pro27Ser)2110ETFDHUncertain significance537038850RCV000392257; RCV000153200; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159601663159601663-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.91A>G (p.Thr31Ala)2110ETFDHConflicting interpretations of pathogenicity182144074RCV000297924; RCV000185888; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN1693744159601675159601675-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.92C>T (p.Thr31Ile)2110ETFDHBenign11559290RCV000355141; RCV000676844; RCV000081080; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202; MedGen:CN1693744159601676159601676UniProtKB (protein):Q16134#VAR_062966C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.121C>T (p.Arg41Ter)2110ETFDHPathogenic-1RCV000699705; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159601705159601705-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.142A>G (p.Ile48Val)2110ETFDHUncertain significance201823591RCV000392282; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159601726159601726-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.250G>A (p.Ala84Thr)2110ETFDHPathogenic121964954RCV000012808; RCV000553294; RCV000224728; NMedGen:C3278156; MedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159603421159603421OMIM Allelic Variant:231675.0003,UniProtKB (protein):Q16134#VAR_075442C3278156 Glutaric acidemia IIC;
NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs)2110ETFDHPathogenic796051962RCV000698712; RCV000185904; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159603473159603474-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.380T>A (p.Leu127His)2110ETFDHPathogenic/Likely pathogenic121964956RCV000012810; RCV000721976; NMedGen:C3278156; MedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159603551159603551OMIM Allelic Variant:231675.0005,UniProtKB (protein):Q16134#VAR_075444C3278156 Glutaric acidemia IIC;
NM_004453.3(ETFDH):c.381C>T (p.Leu127=)2110ETFDHBenign/Likely benign149278633RCV000634899; RCV000153201; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN1693744159603552159603552-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.413T>G (p.Leu138Arg)2110ETFDHPathogenic/Likely pathogenic779896449RCV000763115; RCV000498882; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159605751159605751-CN517202 not provided;
NM_004453.3(ETFDH):c.488-9T>C2110ETFDHUncertain significance1554031705RCV000543533; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159606244159606244-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.642T>C (p.Ile214=)2110ETFDHLikely benign201049444RCV000634901; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159611535159611535-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.679C>A (p.Pro227Thr)2110ETFDHUncertain significance141407224RCV000558221; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159611572159611572-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.807A>C (p.Gln269His)2110ETFDHUncertain significance-1RCV000685445; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159616771159616771-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.831+4T>C2110ETFDHUncertain significance-1RCV000698477; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159616799159616799-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.841A>G (p.Ile281Val)2110ETFDHUncertain significance761854400RCV000634898; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159618720159618720-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.962T>C (p.Leu321Pro)2110ETFDHUncertain significance-1RCV000691018; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159618841159618841-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1001T>C (p.Leu334Pro)2110ETFDHPathogenic/Likely pathogenic377686388RCV000180601; RCV000723385; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159620167159620167UniProtKB (protein):Q16134#VAR_075451C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1048C>T (p.Arg350Trp)2110ETFDHUncertain significance375172942RCV000524621; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159620214159620214-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1084G>A (p.Gly362Arg)2110ETFDHUncertain significance369711837RCV000539322; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159620250159620250-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1116+7C>T2110ETFDHUncertain significance748640706RCV000301497; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159620289159620289-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro)2110ETFDHPathogenic/Likely pathogenic387907170RCV000024305; RCV000578325; RCV000210651; NMedGen:C4016438; MedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MeSH:D030342,MedGen:C09501234159624588159624588OMIM Allelic Variant:231675.0007,UniProtKB (protein):Q16134#VAR_075453C4016438 Glutaric acidemia iic, late-onset;
NM_004453.3(ETFDH):c.1141G>C (p.Gly381Arg)2110ETFDHLikely pathogenic1466787789RCV000625637; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159624599159624599-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1234G>T (p.Glu412Ter)2110ETFDHPathogenic398124151RCV000173803; RCV000081076; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159624692159624692-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1285+1G>A2110ETFDHLikely pathogenic767046886RCV000634893; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159624744159624744-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1325C>T (p.Ser442Leu)2110ETFDHLikely pathogenic1442766122RCV000625800; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159627380159627380-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1366C>T (p.Pro456Ser)2110ETFDHLikely pathogenic751821289RCV000763116; RCV000415983; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159627421159627421-CN517202 not provided;
NM_004453.3(ETFDH):c.1367C>T (p.Pro456Leu)2110ETFDHPathogenic398124152RCV000174102; RCV000081077; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159627422159627422HGMD:CM024526,UniProtKB (protein):Q16134#VAR_075455C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1375C>T (p.His459Tyr)2110ETFDHUncertain significance200111698RCV000660476; RCV000185900; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159627430159627430-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1414G>A (p.Gly472Arg)2110ETFDHUncertain significance746598421RCV000554634; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159627469159627469-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1448C>T (p.Pro483Leu)2110ETFDHLikely pathogenic377656387RCV000024306; RCV000634896; NMedGen:C4016438; MedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159627503159627503OMIM Allelic Variant:231675.0008,UniProtKB (protein):Q16134#VAR_075457C4016438 Glutaric acidemia iic, late-onset;
NM_004453.3(ETFDH):c.1468+15A>C2110ETFDHConflicting interpretations of pathogenicity146561214RCV000367855; RCV000185884; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN1693744159627538159627538-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1531G>A (p.Asp511Asn)2110ETFDHConflicting interpretations of pathogenicity780768015RCV000275519; RCV000174333; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159627843159627843-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1533T>C (p.Asp511=)2110ETFDHBenign/Likely benign77484245RCV000332982; RCV000676847; RCV000124920; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202; MedGen:CN1693744159627845159627845-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1570_1571delCT (p.Leu524Glufs)2110ETFDHPathogenic727503919RCV000174332; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159627882159627883-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1590A>G (p.Glu530=)2110ETFDHConflicting interpretations of pathogenicity143015234RCV000370319; RCV000676848; RCV000605772; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN517202; MedGen:CN1693744159627902159627902-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1690+1G>T2110ETFDHUncertain significance917285990RCV000634895; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159628003159628003-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1690+15C>T2110ETFDHBenign/Likely benign11931339RCV000268662; RCV000124921; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN1693744159628017159628017-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1733G>A (p.Arg578Gln)2110ETFDHUncertain significance200290334RCV000634894; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159629558159629558-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1773_1774delAT (p.Cys592Terfs)2110ETFDHConflicting interpretations of pathogenicity767795266RCV000543124; RCV000224798; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:CN5172024159629598159629599-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.1823delG (p.Gly608Valfs)2110ETFDHPathogenic398124153RCV000174536; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159629648159629648-C0268596 231680 Glutaric aciduria, type 2;
NM_004453.3(ETFDH):c.*53del2110ETFDHUncertain significance753793193RCV000326186; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159629732159629732-
NM_004453.3(ETFDH):c.*135A>C2110ETFDHBenign17843966RCV000383079; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860064159629814159629814-C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.324delG (p.Arg109Alafs)80308FLAD1Pathogenic876661314RCV000223942; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860061154956494154956494-C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs)80308FLAD1Pathogenic876661313RCV000223949; RCV000234837; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:C4310822,OMIM:2551001154960609154960612OMIM Allelic Variant:610595.0001C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.498delC (p.Ser167Profs)80308FLAD1Pathogenic876661315RCV000223946; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860061154960706154960706-C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.508T>C (p.Phe170Leu)80308FLAD1Likely benign761928040RCV000223950; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:228860061154960716154960716-C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.526_537delGCAGGGGGCATCinsCA (p.Ala176Glnfs)80308FLAD1Pathogenic876661312RCV000223945; RCV000234836; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:C4310822,OMIM:2551001154960734154960745OMIM Allelic Variant:610595.0006C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.568_569dupGC (p.Val191Glnfs)80308FLAD1Pathogenic876661310RCV000223944; RCV000234839; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:C4310822,OMIM:2551001154960776154960777OMIM Allelic Variant:610595.0004C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.836delT (p.Phe279Serfs)80308FLAD1Pathogenic876661311RCV000223939; RCV000234842; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:C4310822,OMIM:2551001154961044154961044OMIM Allelic Variant:610595.0005C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.1484_1486delCCT (p.Ser495del)80308FLAD1Pathogenic876661309RCV000223940; RCV000234840; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:C4310822,OMIM:2551001154962934154962936OMIM Allelic Variant:610595.0002C0268596 231680 Glutaric aciduria, type 2;
NM_025207.4(FLAD1):c.1588C>T (p.Arg530Cys)80308FLAD1Pathogenic771466122RCV000223948; RCV000234835; RCV000521126; NMedGen:C0268596,OMIM:231680, Orphanet:ORPHA26791,SNOMED CT:22886006; MedGen:C4310822,OMIM:255100; MedGen:CN5172021154965222154965222OMIM Allelic Variant:610595.0003,UniProtKB (protein):Q8NFF5#VAR_077070C0268596 231680 Glutaric aciduria, type 2;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140374 MSeqDR Search EnsemblETFA1025electron-transfer-flavoprotein, alpha polypeptide [Source:HGNC Symbol;Acc:3481]00439
ENSG00000105379 MSeqDR Search EnsemblETFB1012electron-transfer-flavoprotein, beta polypeptide [Source:HGNC Symbol;Acc:3482]00439
ENSG00000171503 MSeqDR Search EnsemblETFDH1052electron-transferring-flavoprotein dehydrogenase [Source:HGNC Symbol;Acc:3483]00439

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