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Lipid Metabolism, Inborn Errors (D008052)
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Mitochondrial Diseases (D028361)
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Muscular Diseases (D009135)
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VLCAD deficiency (C536353)

       Child Nodes:



 Sister Nodes: 
..expandAlpha-B Crystallinopathy (C563848)
..expandAnal Sphincter Myopathy, Internal (C566287)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandArthrogryposis (D001176) Child55
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCompartment Syndromes (D003161) Child3
..expandContracture (D003286) Child41
..expandCraniomandibular Disorders (D017271) Child4
..expandDimauro disease (C536176)
..expandEncephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..expandEosinophilia-Myalgia Syndrome (D016603)
..expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..expandErythrocyte Amp Deaminase Deficiency (C567878)
..expandErythrocyte Lactate Transporter Defect (C565449)
..expandFatigue Syndrome, Chronic (D015673)
..expandFibromyalgia (D005356)
..expandFingerprint Body Myopathy (C564425)
..expandHereditary Myopathy with Early Respiratory Failure (C566343)
..expandHypertrophia Musculorum Vera (C564152)
..expandIsaacs Syndrome (D020386)
..expandKocher-Debre-Semelaigne syndrome (C537211)
..expandMarinesco-Sjogren-like syndrome (MSLS) (C535913)
..expandMedial Tibial Stress Syndrome (D058923)
..expandMesoectodermal dysplasia (C538472)
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMuscle Cramp (D009120) Child3
..expandMuscle Neoplasms (D019042)
..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
..expandMuscular Disorders, Atrophic (D020966) Child120  LSDB C:1
..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
..expandMyopathies, Structural, Congenital (D020914) Child34
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..expandMyopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..expandMyopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..expandMyopathy, Hyaline Body, Autosomal Recessive (C564970)
..expandMYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..expandMYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..expandMYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..expandMyopathy, Myosin Storage (C564253)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyositis (D009220) Child16
..expandMyostatin-related muscle hypertrophy (C536106)
..expandMyotonic Disorders (D020967) Child10
..expandNeutral Lipid Storage Disease with Myopathy (C565192)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandParalyses, Familial Periodic (D010245) Child7
..expandPectoralis Muscle, Absence of (C566793)
..expandPolymyalgia Rheumatica (D011111)
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandRhabdomyolysis (D012206) Child6  LSDB C:2
..expandRippling muscle disease, 1 (C535686)
..expandSalih Myopathy (C580430)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSingleton Merten syndrome (C537343)
..expandSystemic carnitine deficiency (C536778)  LSDB  L: 00473;
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendinopathy (D052256) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandTriglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
..expandVacuolar myopathy (C536522)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11649
Name:VLCAD deficiency
Definition:
Alternative IDs:OMIM:201475
ParentIDs:MESH:D008052|MESH:D009135|MESH:D028361
TreeNumbers:C05.651/C536353 |C10.668.491/C536353 |C16.320.565.398/C536353 |C18.452.584.562/C536353 |C18.452.648.398/C536353 |C18.452.660/C536353
Synonyms:Acadvl |ACADVLD |Acyl-Coa Dehydrogenase Very Long Chain Deficiency |Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency of |Pearson Marrow-Pancreas Syndrome |Pearson's marrow-pancreas syndrome |Sideroblastic anemia with marrow cell vacuolization and exocrine p
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C536353
MeSH: C536353
OMIM: 201475;
MSeqDR LSDB: 00436;  
Genes: ACADVL;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003234Decreased plasma carnitine
3 HP:0003215Dicarboxylic aciduria
4 HP:0003236Elevated serum creatine phosphokinase
5 HP:0003738Exercise-induced myalgia
6 HP:0008305Exercise-induced myoglobinuria
7 HP:0009045Exercise-induced rhabdomyolysis
8 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
9 HP:0001404Hepatocellular necrosis
10 HP:0002240Hepatomegaly
11 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
12 HP:0001254Lethargy
13 HP:0003552Muscle stiffness
14 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
15 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
16 HP:0001958Nonketotic hypoglycemia
17 HP:0001645Sudden cardiac death
18 HP:0002789Tachypnea
19 HP:0002013Vomiting
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe)-1-Benign2230179RCV000020078; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771233527123352NM_000018.3:c.49C>TNP_000009.1:p.Leu17PheNC_000017.10:g.7123352C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.65C>A (p.Ser22Ter)37ACADVLPathogenic727503788RCV000175507; RCV000152732; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771234437123443NM_000018.3:c.65C>ANP_000009.1:p.Ser22TerNC_000017.10:g.7123443C>AHGMD:CM001606CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.68G>A (p.Arg23Gln)37ACADVLBenign34153370RCV000020079; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771234467123446NM_000018.3:c.68G>ANP_000009.1:p.Arg23GlnNC_000017.10:g.7123446G>A-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.128G>A (p.Gly43Asp)37ACADVLBenign2230178RCV000020071; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771235067123506NM_000018.3:c.128G>ANP_000009.1:p.Gly43AspNC_000017.10:g.7123506G>A-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu)37ACADVLBenign;Pathogenic28934585RCV000001698; RCV000020076; RCV000077913; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN1693741771238387123838NM_000018.3:c.194C>TNP_000009.1:p.Pro65LeuNC_000017.10:g.7123838C>TOMIM Allelic Variant:609575.0011CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu)37ACADVLBenign;Pathogenic28934585RCV000001698; RCV000020076; RCV000077913; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN1693741771238387123838NM_000018.3:c.194C>TNP_000009.1:p.Pro65LeuNC_000017.10:g.7123838C>TOMIM Allelic Variant:609575.0011CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs)37ACADVLLikely pathogenic;Pathogenic786204713RCV000169528; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771241057124106NM_000018.3:c.298_299delCANP_000009.1:p.Gln100ValfsNC_000017.10:g.7124105_7124106delCA-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.343delG (p.Glu115Lysfs)37ACADVLLikely pathogenic;Pathogenic387906249RCV000001691; RCV000077915; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771242437124243NM_000018.3:c.343delGNP_000009.1:p.Glu115LysfsNC_000017.10:g.7124243delGHGMD:CD961740,OMIM Allelic Variant:609575.0004,OMIM Allelic Variant:609575.0005CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.388_390delGAG (p.Glu130del)37ACADVLLikely pathogenic;Pathogenic387906251RCV000001693; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771242887124290NM_000018.3:c.388_390delGAGNP_000009.1:p.Glu130delNC_000017.10:g.7124288_7124290delGAGOMIM Allelic Variant:609575.0006C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.433C>T (p.Gln145Ter)37ACADVLLikely pathogenic786204738RCV000169585; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771243337124333NM_000018.3:c.433C>TNP_000009.1:p.Gln145TerNC_000017.10:g.7124333C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.520G>A (p.Val174Met)37ACADVLPathogenic369560930RCV000179696; RCV000077919; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771248997124899NM_000018.3:c.520G>ANP_000009.1:p.Val174MetNC_000017.10:g.7124899G>AHGMD:CM990084CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.637G>A (p.Ala213Thr)37ACADVLPathogenic140629318RCV000180089; RCV000185713; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771252857125285NM_000018.3:c.637G>ANP_000009.1:p.Ala213ThrNC_000017.10:g.7125285G>A,NC_000017.10:g.7125285G>C-CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.664G>A (p.Gly222Arg)37ACADVLLikely pathogenic;Uncertain significance398123091RCV000169301; RCV000077922; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771253127125312NM_000018.3:c.664G>ANP_000009.1:p.Gly222ArgNC_000017.10:g.7125312G>AHGMD:CM101566CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.685C>T (p.Arg229Ter)37ACADVLLikely pathogenic786204536RCV000169238; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771253337125333NM_000018.3:c.685C>TNP_000009.1:p.Arg229TerNC_000017.10:g.7125333C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.739A>C (p.Lys247Gln)37ACADVLPathogenic387906253RCV000001698; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771253877125387NM_000018.3:c.739A>CNP_000009.1:p.Lys247GlnNC_000017.10:g.7125387A>COMIM Allelic Variant:609575.0011CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.753-2A>C37ACADVLPathogenic398123092RCV000180449; RCV000077923; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771254947125494NM_000018.3:c.753-2A>CNC_000017.10:g.7125494A>CHGMD:CS991281CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.779C>T (p.Thr260Met)37ACADVLLikely pathogenic;Pathogenic113994168RCV000020080; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771255227125522NM_000018.3:c.779C>TNP_000009.1:p.Thr260MetNC_000017.10:g.7125522C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala)37ACADVLPathogenic113994167RCV000020081; RCV000077925; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771255917125591NM_000018.3:c.848T>CNP_000009.1:p.Val283AlaNC_000017.10:g.7125591T>CHGMD:CM960004CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.887_888delCT (p.Pro296Argfs)37ACADVLLikely pathogenic;Pathogenic753108198RCV000169392; RCV000185736; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771259947125995NM_000018.3:c.887_888delCTNP_000009.1:p.Pro296ArgfsNC_000017.10:g.7125994_7125995delCT-CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del)37ACADVLLikely pathogenic;Pathogenic387906252RCV000001694; RCV000077926; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771260037126005NM_000018.3:c.896_898delAGANP_000009.1:p.Lys299delNC_000017.10:g.7126003_7126005delAGAHGMD:CD961742,OMIM Allelic Variant:609575.0007CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1038G>A (p.Ala346=)37ACADVLBenign8064573RCV000020068; RCV000077899; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN1693741771261457126145NM_000018.3:c.1038G>ANP_000009.1:p.Ala346=NC_000017.10:g.7126145G>A-CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1106T>C (p.Phe369Ser)37ACADVLLikely pathogenic398123080RCV000173951; RCV000077900; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771264807126480NM_000018.3:c.1106T>CNP_000009.1:p.Phe369SerNC_000017.10:g.7126480T>C-CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1144A>C (p.Lys382Gln)37ACADVLPathogenic118204015RCV000001695; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771265187126518NM_000018.3:c.1144A>CNP_000009.1:p.Lys382GlnNC_000017.10:g.7126518A>COMIM Allelic Variant:609575.0008C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_001033859.1(ACADVL):c.1116+1G>A37ACADVLLikely pathogenic;Pathogenic113690956RCV000001689; RCV000210824; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771265577126557NM_001033859.1:c.1116+1G>AOMIM Allelic Variant:609575.0002CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1226C>T (p.Thr409Met)37ACADVLPathogenic;Uncertain significance113994169RCV000020069; RCV000185722; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN1693741771270067127006NM_000018.3:c.1226C>TNP_000009.1:p.Thr409MetNC_000017.10:g.7127006C>T-CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1246G>A (p.Ala416Thr)37ACADVLPathogenic118204018RCV000001700; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771270267127026NM_000018.3:c.1246G>ANP_000009.1:p.Ala416ThrNC_000017.10:g.7127026G>AOMIM Allelic Variant:609575.0013C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1284G>A (p.Lys428=)37ACADVLBenign35501596RCV000020070; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771271467127146NM_000018.3:c.1284G>ANP_000009.1:p.Lys428=NC_000017.10:g.7127146G>A-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp)37ACADVLPathogenic2309689RCV000020072; RCV000077903; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771271847127184NM_000018.3:c.1322G>ANP_000009.1:p.Gly441AspNC_000017.10:g.7127184G>AHGMD:CM960010,OMIM Allelic Variant:609575.0009CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1349G>A (p.Arg450His)37ACADVLLikely pathogenic;Pathogenic118204016RCV000001701; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771273037127303NM_000018.3:c.1349G>ANP_000009.1:p.Arg450HisNC_000017.10:g.7127303G>AOMIM Allelic Variant:609575.0010,OMIM Allelic Variant:609575.0014C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1357C>T (p.Arg453Ter)37ACADVLPathogenic794727113RCV000174654; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771273117127311NM_000018.3:c.1357C>TNP_000009.1:p.Arg453TerNC_000017.10:g.7127311C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1372T>C (p.Phe458Leu)37ACADVLPathogenic118204017RCV000001699; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771273267127326NM_000018.3:c.1372T>CNP_000009.1:p.Phe458LeuNC_000017.10:g.7127326T>COMIM Allelic Variant:609575.0012C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1389dupG (p.Thr464Aspfs)37ACADVLPathogenic398123082RCV000174651; RCV000077905; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771273437127343NM_000018.3:c.1389dupGNP_000009.1:p.Thr464AspfsNC_000017.10:g.7127343dupG-CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1405C>T (p.Arg469Trp)37ACADVLLikely pathogenic;Pathogenic113994170RCV000020073; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771273597127359NM_000018.3:c.1405C>TNP_000009.1:p.Arg469TrpNC_000017.10:g.7127359C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln)37ACADVLLikely pathogenic;Pathogenic398123083RCV000169627; RCV000077906; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771273607127360NM_000018.3:c.1406G>ANP_000009.1:p.Arg469GlnNC_000017.10:g.7127360G>AHGMD:CM990103CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1434+14T>A37ACADVLUncertain significance202217537RCV000174650; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771274027127402NM_000018.3:c.1434+14T>ANC_000017.10:g.7127402T>A-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1532+1G>A37ACADVLPathogenic727503794RCV000152740; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771275637127563NM_000018.3:c.1532+1G>ANC_000017.10:g.7127563G>A-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys)37ACADVLBenign;Uncertain significance2230180RCV000020074; RCV000077907; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN1693741771277077127707NM_000018.3:c.1600G>ANP_000009.1:p.Glu534LysNC_000017.10:g.7127707G>AHGMD:CM990107CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1605+6T>C37ACADVLBenign17671352RCV000169539; RCV000077908; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN1693741771277187127718NM_000018.3:c.1605+6T>CNC_000017.10:g.7127718T>C-CN169374 not specified; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1679-6G>A37ACADVLLikely pathogenic;Pathogenic113994171RCV000031857; RCV000185730; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771279557127955NM_000018.3:c.1679-6G>ANC_000017.10:g.7127955G>A-CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_001270447.1(ACADVL):c.1768C>T (p.Arg590Trp)37ACADVLUncertain significance864321651RCV000203523; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771279817127981NM_001270447.1:c.1768C>TNP_001257376.1:p.Arg590TrpNC_000017.10:g.7127981C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp)37ACADVLLikely pathogenic;Pathogenic118204014RCV000001690; RCV000185733; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771282857128285NM_000018.3:c.1837C>TNP_000009.1:p.Arg613TrpNC_000017.10:g.7128285C>TOMIM Allelic Variant:609575.0003CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln)37ACADVLLikely pathogenic;Pathogenic;Uncertain significance148584617RCV000193309; RCV000176020; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:237997005; MedGen:CN2218091771282927128292NM_000018.3:c.1844G>ANP_000009.1:p.Arg615GlnNC_000017.10:g.7128292G>A-CN221809 not provided; C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
NM_000018.3(ACADVL):c.1965C>T (p.Phe655=)37ACADVLBenign9674RCV000020077; NMedGen:C0342784,OMIM:201475,ORPHA:26793,SNOMED CT:237996001,SNOMED CT:2379970051771284137128413NM_000018.3:c.1965C>TNP_000009.1:p.Phe655=NC_000017.10:g.7128413C>T-C0342784 201475 Very long chain acyl-CoA dehydrogenase deficiency
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000072778 MSeqDR Search EnsemblACADVL12141acyl-CoA dehydrogenase, very long chain [Source:HGNC Symbol;Acc:92]00436

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