MCID: VRY001
MIFTS: 31

Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

Categories: Genetic diseases (common), Immune diseases, Endocrine diseases

Aliases & Classifications for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Aliases & Descriptions for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 23
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 24 67
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 23 24
 
Vlcad Deficiency 23 24
Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24
Pearson's Marrow-Pancreas Syndrome 67

Characteristics:

GeneReviews:

23
Penetrance: severe forms are suspected to be fully penetrant...


Classifications:



Summaries for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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MalaCards based summary: Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as very long chain acyl-coa dehydrogenase deficiency, is related to vlcad deficiency and myoglobinuria, and has symptoms including hepatomegaly, lethargy and vomiting. An important gene associated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADVL (Acyl-CoA Dehydrogenase, Very Long Chain), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Mitochondrial Fatty Acid Beta-Oxidation. Affiliated tissues include pancreas, and related mouse phenotype adipose tissue.

GeneReviews for NBK6816

Related Diseases for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Graphical network of diseases related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



Diseases related to very long-chain acyl-coenzyme a dehydrogenase deficiency

Symptoms for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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UMLS symptoms related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


hepatomegaly, lethargy, vomiting

Drugs & Therapeutics for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Drugs for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycerolexperimental, approvedPhase 222356-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2
BezafibrateapprovedPhase 21441859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
3Lipid Regulating AgentsPhase 22702
4Hypolipidemic AgentsPhase 22721
5AntimetabolitesPhase 211774
6carnitineNutraceuticalPhase 2158
7
Pancrelipaseapproved93553608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
8
Heparinapproved, investigational8129005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
9Pyruvateapproved, Nutraceutical38
10pancreatin935
11Parenteral Nutrition Solutions153
12Pharmaceutical Solutions7793
13Protective Agents7190
14Soybean oil, phospholipid emulsion73
15Insulin, Globin Zinc4523
16Fat Emulsions, Intravenous92
17calcium heparin812
18Anticoagulants2516
19insulin4524
20Calcium, Dietary5525
21Hypoglycemic Agents5733
22Fibrinolytic Agents2317
23Soy BeanNutraceutical535

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation DefectsCompletedNCT00983788Phase 2
2High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
3Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
4An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)CompletedNCT01886378Phase 2
5Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.Enrolling by invitationNCT02214160Phase 2
6Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to TreatmentCompletedNCT00499070
7Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
8Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
9Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304

Search NIH Clinical Center for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic Tests for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Genetic tests related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency24 ACADVL

Anatomical Context for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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MalaCards organs/tissues related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

35
Pancreas

Animal Models for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6ACADVL, ACSL1, PLIN2

Publications for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Articles related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 24)
idTitleAuthorsYear
1
A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations. (27538624)
2016
2
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients. (27518779)
2016
3
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis. (25652019)
2015
4
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency. (25655073)
2015
5
Anesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature review. (25069536)
2014
6
Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency. (24765510)
2013
7
Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency. (22847608)
2012
8
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
9
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. (17999356)
2007
10
Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. (12893739)
2003
11
Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency. (11882234)
2002
12
Very-long-chain acyl-coenzyme A dehydrogenase deficiency--a new cause of myoglobinuric acute renal failure. (10910451)
2000
13
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. (10738914)
2000
14
Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency. (10700700)
2000
15
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. (10431122)
1999
16
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. (9498103)
1998
17
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. (9709714)
1998
18
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (9546340)
1998
19
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency. (9877038)
1998
20
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. (9565984)
1998
21
Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management. (9329424)
1997
22
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. (9164788)
1997
23
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. (8145917)
1994
24
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301763)
1993

Variations for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Clinvar genetic disease variations for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADVLACADVL, 105-BP DELundetermined variantPathogenicChr na, -1: -1
2ACADVLNM_000018.3(ACADVL): c.1078_1182del105SNVLikely pathogenic, Pathogenicrs113690956GRCh37Chr 17, 7126557: 7126557
3ACADVLNM_000018.3(ACADVL): c.1837C> T (p.Arg613Trp)SNVLikely pathogenic, Pathogenicrs118204014GRCh37Chr 17, 7128285: 7128285
4ACADVLNM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs)deletionLikely pathogenic, Pathogenicrs387906249GRCh37Chr 17, 7124243: 7124243
5ACADVLNM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del)deletionLikely pathogenic, Pathogenicrs387906251GRCh37Chr 17, 7124288: 7124290
6ACADVLNM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln)SNVPathogenicrs118204015GRCh37Chr 17, 7126518: 7126518
7ACADVLNM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu)SNVPathogenicrs118204017GRCh37Chr 17, 7127326: 7127326
8ACADVLNM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr)SNVPathogenicrs118204018GRCh37Chr 17, 7127026: 7127026
9ACADVLNM_000018.3(ACADVL): c.1349G> A (p.Arg450His)SNVLikely pathogenic, Pathogenicrs118204016GRCh37Chr 17, 7127303: 7127303
10ACADVLNM_000018.3(ACADVL): c.65C> A (p.Ser22Ter)SNVPathogenicrs727503788GRCh37Chr 17, 7123443: 7123443
11ACADVLNM_000018.3(ACADVL): c.1532+1G> ASNVPathogenicrs727503794GRCh37Chr 17, 7127563: 7127563
12ACADVLNM_000018.3(ACADVL): c.887_888delCT (p.Pro296Argfs)deletionLikely pathogenic, Pathogenicrs753108198GRCh38Chr 17, 7222675: 7222676
13ACADVLNM_000018.3(ACADVL): c.298_299delCA (p.Gln100Valfs)deletionLikely pathogenic, Pathogenicrs786204713GRCh37Chr 17, 7124105: 7124106
14ACADVLNM_000018.3(ACADVL): c.1357C> T (p.Arg453Ter)SNVLikely pathogenic, Pathogenicrs794727113GRCh37Chr 17, 7127311: 7127311
15ACADVLNM_000018.3(ACADVL): c.1844G> A (p.Arg615Gln)SNVLikely pathogenic, Pathogenicrs148584617GRCh37Chr 17, 7128292: 7128292
16ACADVLNM_000018.3(ACADVL): c.637G> A (p.Ala213Thr)SNVLikely pathogenic, Pathogenicrs140629318GRCh37Chr 17, 7125285: 7125285
17ACADVLNM_000018.3(ACADVL): c.1226C> T (p.Thr409Met)SNVPathogenicrs113994169GRCh37Chr 17, 7127006: 7127006
18ACADVLNM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp)SNVPathogenicrs2309689GRCh37Chr 17, 7127184: 7127184
19ACADVLNM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp)SNVLikely pathogenic, Pathogenicrs113994170GRCh37Chr 17, 7127359: 7127359
20ACADVLNM_000018.3(ACADVL): c.1679-6G> ASNVLikely pathogenic, Pathogenicrs113994171GRCh37Chr 17, 7127955: 7127955
21ACADVLNM_000018.3(ACADVL): c.779C> T (p.Thr260Met)SNVLikely pathogenic, Pathogenicrs113994168GRCh37Chr 17, 7125522: 7125522
22ACADVLNM_000018.3(ACADVL): c.848T> C (p.Val283Ala)SNVPathogenicrs113994167GRCh37Chr 17, 7125591: 7125591
23ACADVLNM_000018.3(ACADVL): c.869dupG (p.Ile291Hisfs)duplicationPathogenicrs886044671GRCh37Chr 17, 7125612: 7125612
24ACADVLNM_000018.3(ACADVL): c.1389dupG (p.Thr464Aspfs)duplicationPathogenicrs398123082GRCh37Chr 17, 7127343: 7127343
25ACADVLNM_000018.3(ACADVL): c.1406G> A (p.Arg469Gln)SNVLikely pathogenic, Pathogenicrs398123083GRCh37Chr 17, 7127360: 7127360
26ACADVLNM_000018.3(ACADVL): c.520G> A (p.Val174Met)SNVLikely pathogenic, Pathogenicrs369560930GRCh37Chr 17, 7124899: 7124899
27ACADVLNM_000018.3(ACADVL): c.753-2A> CSNVPathogenicrs398123092GRCh37Chr 17, 7125494: 7125494
28ACADVLNM_000018.3(ACADVL): c.896_898delAGA (p.Lys299del)deletionLikely pathogenic, Pathogenicrs387906252GRCh37Chr 17, 7126003: 7126005

Expression for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Search GEO for disease gene expression data for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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GO Terms for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Biological processes related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.0ACADM, ACADVL
2lipid homeostasisGO:00550889.8ACADM, ACADVL
3fatty acid beta-oxidationGO:00066359.5ACADM, ACADVL
4response to organic cyclic compoundGO:00140708.7ACSL1, PLIN2

Molecular functions related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:005289010.0ACADM, ACADVL
2acyl-CoA dehydrogenase activityGO:000399510.0ACADM, ACADVL
3fatty-acyl-CoA bindingGO:00000629.9ACADM, ACADVL
4flavin adenine dinucleotide bindingGO:00506609.5ACADM, ACADVL
5electron carrier activityGO:00090559.4ACADM, ACADVL

Sources for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet