MCID: VRY001
MIFTS: 36

Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Immune diseases, Endocrine diseases

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

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Sources:
21GeneReviews, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

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

Name: Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 21
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 22 51 65
Vlcad Deficiency 21 22 51
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 21 22
 
Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency 22
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency 24
Pearson's Marrow-Pancreas Syndrome 65
Vlcadd 51

Characteristics:

Orphanet epidemiological data:

51
very long chain acyl-coa dehydrogenase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Germany); Age of onset: Infancy,Neonatal; Age of death: early childhood

Classifications:



External Ids:

Orphanet51 26793
ICD10 via Orphanet28 E71.3
UMLS65 C3887523, C0342784

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 endotheliitis. 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, colon and liver, and related mouse phenotypes are liver/biliary system and adipose tissue.

GeneReviews summary for NBK6816

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

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Graphical network of the top 20 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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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 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 21241859-67-039042
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
2
GlycerolexperimentalPhase 219156-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
3Hypolipidemic AgentsPhase 22228
4AntimetabolitesPhase 29454
5carnitineNutraceuticalPhase 2146
6
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
7
Heparinapproved, investigational7199005-49-6772, 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
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
8pancreatin880
9Protective Agents5651
10Pharmaceutical Solutions7004
11insulin4278
12Insulin, Globin Zinc4278
13calcium heparin719
14pyruvateNutraceutical30

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)Active, not recruitingNCT01886378Phase 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 Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304

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 Deficiency22 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:

33
Pancreas, Colon, Liver, Prostate

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6ACADM, ACADVL, PLIN2
2MP: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 22)
idTitleAuthorsYear
1
Diet and exercise in uterine cancer survivors (DEUS pilot) - piloting a healthy eating and physical activity program: study protocol for a randomized controlled trial. (26965165)
2016
2
High expression of long non-coding RNA ANRIL is associated with poor prognosis in hepatocellular carcinoma. (26045820)
2015
3
An elevated lipoprotein(a) plasma level as a cardiovascular risk factor. (25936334)
2015
4
Identification and validation of biomarkers associated with acute and chronic graft versus host disease. (26367225)
2015
5
Treatment of unstable osteochondritis dissecans in adults with autogenous osteochondral grafts (Mosaicplasty): long-term results. (26904522)
2015
6
Erratum: Mutation Analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia. (25324893)
2014
7
Implementation of transcranial Doppler ultrasonography screening and primary stroke prevention in urban and rural sickle cell disease populations. (25381872)
2014
8
IR/IGF1R signaling as potential target for treatment of high-grade osteosarcoma. (23688189)
2013
9
Shifting from laparotomy to thoracoscopic repair of congenital diaphragmatic hernia in neonates: early experience. (23963346)
2013
10
Troglitazone, a PPAR agonist, inhibits human prostate cancer cell growth through inactivation of NFI_B via suppression of GSK-3I^ expression. (21613824)
2011
11
QTLs and candidate genes for desiccation and abscisic acid content in maize kernels. (20047666)
2010
12
Survivin is regulated by interleukin-4 in colon cancer stem cells. (20506498)
2010
13
The association between HLA genes and radiological erosions in Malaysian patients with rheumatoid arthritis. (17453717)
2007
14
Stereoselective chemoenzymatic synthesis of the four stereoisomers of l-2-(2-carboxycyclobutyl)glycine and pharmacological characterization at human excitatory amino acid transporter subtypes 1, 2, and 3. (17064071)
2006
15
New international classification of migraine with aura (ICHD-2) applied to 362 migraine patients. (15379737)
2004
16
A weak association of HLA-B*2702 with BehAset's disease. (12209364)
2002
17
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. (9007328)
1996
18
Immunotherapy in liver tumors: II. Intratumoral injection with activated tumor-infiltrating lymphocytes, intrasplenic administration of recombinant interleukin-2 and interferon alpha causes tumor regression and lysis. (7923100)
1994
19
IgA nephritis in a child with human immunodeficiency virus: a unique form of human immunodeficiency virus-associated nephropathy? (1536739)
1992
20
Heterotopic Tc-99m MDP uptake secondary to phlebitis. (2054988)
1991
21
Cyclosporin A in the treatment of chronic demyelinating polyradiculoneuropathy. (2341846)
1990
22
Studies on beta-phenylethylamine deamination by human placental monoamine oxidase. (6788990)
1981

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

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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
1response to drugGO:00424939.6ACADM, ACSL1
2oxidation-reduction processGO:00551149.5ACADM, ACADVL
3cellular lipid metabolic processGO:00442558.1ACADM, ACADVL, ACSL1, PLIN2

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:00090559.5ACADM, ACADVL

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet