ACADVLD
MCID: VLC002
MIFTS: 58

Vlcad Deficiency (ACADVLD) malady

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

Aliases & Classifications for Vlcad Deficiency

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Aliases & Descriptions for Vlcad Deficiency:

Name: Vlcad Deficiency 52 36 23 48 24 25 54 70 12
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 11 24 54 13 68
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 23 48 24 25
Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 36 23 25
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency 70 27
Vlcadd 48 54
Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24
Very Long-Chain Acyl Coenzyme a Dehydrogenase Deficiency 25
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 52
Acyl-Coa Dehydrogenase Very Long Chain Deficiency 25
 
Acyl-Coenzyme a Dehydrogenase, Very Long Chain 12
Acyl-Coa Dehydrogenase Long-Chain Deficiency 70
Pearson's Marrow-Pancreas Syndrome 68
Acadl Deficiency 70
Lcad Deficiency 70
Vlcad-H 25
Acadvld 70
Vlcad-C 25
Acadvl 25

Characteristics:

Orphanet epidemiological data:

54
vlcad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Germany); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

64
vlcad deficiency:
Inheritance: autosomal recessive inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM52 201475
Disease Ontology11 DOID:0080155
Orphanet54 ORPHA26793
ICD10 via Orphanet31 E71.3
MedGen37 C0342784
MeSH39 D008052

Summaries for Vlcad Deficiency

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OMIM:52 Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency... (201475) more...

MalaCards based summary: Vlcad Deficiency, also known as very long chain acyl-coa dehydrogenase deficiency, is related to lcad deficiency and pericardial effusion, and has symptoms including lethargy, vomiting and muscular hypotonia. An important gene associated with Vlcad Deficiency is ACADVL (Acyl-CoA Dehydrogenase, Very Long Chain), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Valproic acid pathway. Affiliated tissues include skeletal muscle, pancreas and liver, and related mouse phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and renal/urinary system.

NIH Rare Diseases:48 Vlcad deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. vlcad deficiency is caused by changes (mutations) in the acadvl gene and is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 6/29/2015

UniProtKB/Swiss-Prot:70 Acyl-CoA dehydrogenase very long-chain deficiency: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.

Genetics Home Reference:25 Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

Disease Ontology:11 A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.

GeneReviews for NBK6816

Related Diseases for Vlcad Deficiency

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Diseases related to Vlcad Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1lcad deficiency11.5
2pericardial effusion11.0
3myoglobinuria10.4
4myxozoa10.2ACADVL, CPT2
5pulmonary hypertension, primary, 410.2HADHA, HADHB
6waldenstrom macroglobulinemia10.2ACADVL, SLC25A13
7vitamin metabolic disorder10.1ACADVL, HMGCL
8maple syrup urine disease, mild variant10.1ACADVL, HADH, HADHA
9abducens palsy10.1HADH, HADHA, HADHB
10maturity-onset diabetes of the young, type 1310.1HADH, HADHA
11zygodactyly 110.1CPT2, SLC25A20
12b-cell childhood acute lymphoblastic leukemia10.1ACADVL, CPT2
13retinitis pigmentosa 4, autosomal dominant or recessive10.1ACADVL, HMGCL
14malignant cardiac peripheral nerve sheath neoplasm10.0HADHA, HMGCL
15obesity, morbid, due to leptin receptor deficiency10.0ACADVL, HADHA, HMGCL
16mitochondrial phosphate carrier deficiency10.0ACADS, SLC25A13
17deafness, autosomal dominant 5210.0ACADVL, CPT2, SLC25A20
18qazi markouizos syndrome10.0HMGCL, MLYCD, SLC25A13
19hermansky-pudlak syndrome 99.9ACADS, HMGCL
20dilated cardiomyopathy9.8
21cardiomyopathy9.8
22acute insulin response9.8ACADL, ACADS, ACADVL, HADHA
23atrial fibrillation, familial, 49.8ACADL, ACADVL, HADH, SLC25A13, SLC25A20
24encephalopathy, acute, infection-induced, 49.8ACADL, ACADVL, CPT2, HADHB, SLC25A20
25van maldergem syndrome9.8ACADL, ACADVL, CPT2, HADHB, SLC25A20
26pain disorder9.7ACADS, HMGCL
27fibular hypoplasia9.3ACADL, ACADS, ACADVL, CPT2, HADHA, SLC25A13
28cystinosis, ocular nonnephropathic8.5ACADL, ACADS, ACADVL, C10orf10, CPT2, HADH

Graphical network of the top 20 diseases related to Vlcad Deficiency:



Diseases related to vlcad deficiency

Symptoms & Phenotypes for Vlcad Deficiency

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Symptoms by clinical synopsis from OMIM:

201475

Clinical features from OMIM:

201475

Human phenotypes related to Vlcad Deficiency:

 64 (show all 18)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia64 HP:0001252
2 lethargy64 HP:0001254
3 muscle weakness64 HP:0001324
4 hepatic steatosis64 HP:0001397
5 hepatocellular necrosis64 HP:0001404
6 hypertrophic cardiomyopathy64 HP:0001639
7 sudden cardiac death64 HP:0001645
8 nonketotic hypoglycemia64 HP:0001958
9 vomiting64 HP:0002013
10 hepatomegaly64 HP:0002240
11 tachypnea64 HP:0002789
12 dicarboxylic aciduria64 HP:0003215
13 decreased plasma carnitine64 HP:0003234
14 elevated serum creatine phosphokinase64 HP:0003236
15 muscle stiffness64 HP:0003552
16 exercise-induced myalgia64 HP:0003738
17 exercise-induced myoglobinuria64 HP:0008305
18 exercise-induced rhabdomyolysis64 HP:0009045

UMLS symptoms related to Vlcad Deficiency:


lethargy, vomiting

GenomeRNAi Phenotypes related to Vlcad Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00351-A-17.9ACADL, ACADS, HADH, HADHA, HADHB, MLYCD

MGI Mouse Phenotypes related to Vlcad Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1ACADL, ACADS, HADH, HADHA, SLC25A13
2MP:00053708.4ACADL, ACADS, ACADVL, HADHA, HADHB, HMGCL
3MP:00107687.3ACADL, ACADS, ACADVL, CPT2, HADHA, HADHB
4MP:00053766.6ACADL, ACADS, ACADVL, CPT2, HADH, HADHA

Drugs & Therapeutics for Vlcad Deficiency

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Drugs for Vlcad Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycerolexperimental, approvedPhase 223856-81-5753
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 22766
4Hypolipidemic AgentsPhase 22785
5AntimetabolitesPhase 212054
6carnitineNutraceuticalPhase 2162
7
Pancrelipaseapproved97053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
8
Heparinapproved, investigational8489005-49-6772, 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
9
Pyruvateapproved, Nutraceutical44
Synonyms:
 
2-oxopropanoate
10pancreatin970
11Parenteral Nutrition Solutions160
12Insulin, Globin Zinc4645
13Protective Agents7443
14Soybean oil, phospholipid emulsion76
15insulin4646
16Calcium, Dietary5713
17Anticoagulants2623
18Pharmaceutical Solutions8192
19Hypoglycemic Agents5896
20calcium heparin848
21Fibrinolytic Agents2388
22Fat Emulsions, Intravenous97
23Soy BeanNutraceutical554

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 Disorders & Body Weight Regulation GrantCompletedNCT00654004
8Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
9Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
10Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304

Search NIH Clinical Center for Vlcad Deficiency

Genetic Tests for Vlcad Deficiency

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Genetic tests related to Vlcad Deficiency:

id Genetic test Affiliating Genes
1 Very Long Chain Acyl-Coa Dehydrogenase Deficiency27
2 Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency24 ACADVL

Anatomical Context for Vlcad Deficiency

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MalaCards organs/tissues related to Vlcad Deficiency:

36
Skeletal muscle, Pancreas, Liver, Heart, Testes

Publications for Vlcad Deficiency

About this section

Articles related to Vlcad Deficiency:

(show all 18)
idTitleAuthorsYear
1
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models. (28247148)
2017
2
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. (27209629)
2016
3
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. (27246109)
2016
4
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. (26385305)
2015
5
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. (25834949)
2015
6
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. (26453363)
2015
7
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection. (24330285)
2013
8
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold Intolerance. (24285112)
2013
9
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. (19327992)
2009
10
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. (19208414)
2009
11
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. (17206456)
2007
12
Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency. (17636072)
2007
13
Effects of a fat load and exercise on asymptomatic VLCAD deficiency. (17457695)
2007
14
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. (16488171)
2006
15
A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis]. (15024832)
2004
16
A new diagnostic test for VLCAD deficiency using immunohistochemistry. (15210884)
2004
17
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots. (10830467)
2000
18
Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. (8554073)
1996

Variations for Vlcad Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Vlcad Deficiency:

70 (show all 37)
id Symbol AA change Variation ID SNP ID
1ACADVLp.Thr158AsnVAR_000332
2ACADVLp.Gln159ArgVAR_000333rs746688190
3ACADVLp.Val174MetVAR_000334rs369560930
4ACADVLp.Gly185SerVAR_000335rs545215807
5ACADVLp.Glu218LysVAR_000336
6ACADVLp.Leu243ArgVAR_000337
7ACADVLp.Lys247ThrVAR_000338
8ACADVLp.Thr260MetVAR_000339rs113994168
9ACADVLp.Ala281AspVAR_000341
10ACADVLp.Val283AlaVAR_000342rs113994167
11ACADVLp.Gly290AspVAR_000343rs866464446
12ACADVLp.Gly294GluVAR_000344rs200573371
13ACADVLp.Lys299AsnVAR_000345rs774716484
14ACADVLp.Val317AlaVAR_000347rs398123095
15ACADVLp.Met352ValVAR_000348
16ACADVLp.Arg366CysVAR_000349rs771874163
17ACADVLp.Arg366HisVAR_000350rs112406105
18ACADVLp.Lys382GlnVAR_000352rs118204015
19ACADVLp.Asp405HisVAR_000353
20ACADVLp.Gly441AspVAR_000354rs2309689
21ACADVLp.Arg450HisVAR_000355rs118204016
22ACADVLp.Arg453GlnVAR_000356rs138058572
23ACADVLp.Asp454AsnVAR_000357
24ACADVLp.Arg456HisVAR_000358rs794727112
25ACADVLp.Arg459TrpVAR_000359rs766742117
26ACADVLp.Gly463GluVAR_000360rs200366828
27ACADVLp.Arg469GlnVAR_000361rs398123083
28ACADVLp.Arg469TrpVAR_000362rs113994170
29ACADVLp.Leu502ProVAR_000363
30ACADVLp.Leu602IleVAR_000364
31ACADVLp.Arg613TrpVAR_000365rs118204014
32ACADVLp.Ala213ProVAR_010101rs140629318
33ACADVLp.Lys247GluVAR_010102
34ACADVLp.Phe458LeuVAR_010103rs118204017
35ACADVLp.Ala490ProVAR_010104rs759775666
36ACADVLp.Glu534LysVAR_010105rs2230180
37ACADVLp.Arg615GlnVAR_010106rs148584617

Clinvar genetic disease variations for Vlcad Deficiency:

5 (show all 60)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADVLACADVL, 105-BP DELundetermined variantPathogenic
2ACADVLNM_ 000018.3(ACADVL): c.1078_ 1182del105SNVPathogenic/ Likely pathogenicrs113690956GRCh37Chr 17, 7126557: 7126557
3ACADVLNM_ 000018.3(ACADVL): c.1837C> T (p.Arg613Trp)SNVPathogenic/ Likely pathogenicrs118204014GRCh37Chr 17, 7128285: 7128285
4ACADVLNM_ 000018.3(ACADVL): c.343delG (p.Glu115Lysfs)deletionPathogenic/ Likely pathogenicrs387906249GRCh37Chr 17, 7124243: 7124243
5ACADVLNM_ 000018.3(ACADVL): c.388_ 390delGAG (p.Glu130del)deletionPathogenic/ Likely 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)SNVPathogenic/ Likely 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.685C> T (p.Arg229Ter)SNVLikely pathogenicrs786204536GRCh37Chr 17, 7125333: 7125333
13ACADVLNM_ 000018.3(ACADVL): c.887_ 888delCT (p.Pro296Argfs)deletionPathogenic/ Likely pathogenicrs753108198GRCh38Chr 17, 7222675: 7222676
14ACADVLNM_ 000018.3(ACADVL): c.298_ 299delCA (p.Gln100Valfs)deletionPathogenic/ Likely pathogenicrs786204713GRCh37Chr 17, 7124105: 7124106
15ACADVLNM_ 000018.3(ACADVL): c.433C> T (p.Gln145Ter)SNVLikely pathogenicrs786204738GRCh38Chr 17, 7221014: 7221014
16ACADVLNM_ 000018.3(ACADVL): c.1357C> T (p.Arg453Ter)SNVPathogenic/ Likely pathogenicrs794727113GRCh37Chr 17, 7127311: 7127311
17ACADVLNM_ 000018.3(ACADVL): c.637G> A (p.Ala213Thr)SNVPathogenic/ Likely pathogenicrs140629318GRCh37Chr 17, 7125285: 7125285
18ACADVLNM_ 000018.3(ACADVL): c.1097G> A (p.Arg366His)SNVPathogenic/ Likely pathogenicrs112406105GRCh37Chr 17, 7126471: 7126471
19ACADVLNM_ 000018.3(ACADVL): c.1376G> A (p.Arg459Gln)SNVPathogenic/ Likely pathogenicrs751995154GRCh37Chr 17, 7127330: 7127330
20ACADVLNM_ 000018.3(ACADVL): c.1504C> G (p.Leu502Val)SNVLikely pathogenicrs779901247GRCh37Chr 17, 7127534: 7127534
21ACADVLNM_ 000018.3(ACADVL): c.1532G> A (p.Arg511Gln)SNVLikely pathogenicrs200771970GRCh37Chr 17, 7127562: 7127562
22ACADVLNM_ 000018.3(ACADVL): c.553G> A (p.Gly185Ser)SNVPathogenic/ Likely pathogenicrs545215807GRCh38Chr 17, 7221613: 7221613
23ACADVLNM_ 000018.3(ACADVL): c.1226C> T (p.Thr409Met)SNVPathogenicrs113994169GRCh37Chr 17, 7127006: 7127006
24ACADVLNM_ 000018.3(ACADVL): c.1322G> A (p.Gly441Asp)SNVPathogenicrs2309689GRCh37Chr 17, 7127184: 7127184
25ACADVLNM_ 000018.3(ACADVL): c.1405C> T (p.Arg469Trp)SNVPathogenic/ Likely pathogenicrs113994170GRCh37Chr 17, 7127359: 7127359
26ACADVLNM_ 000018.3(ACADVL): c.1679-6G> ASNVPathogenic/ Likely pathogenicrs113994171GRCh37Chr 17, 7127955: 7127955
27ACADVLNM_ 000018.3(ACADVL): c.779C> T (p.Thr260Met)SNVPathogenic/ Likely pathogenicrs113994168GRCh37Chr 17, 7125522: 7125522
28ACADVLNM_ 000018.3(ACADVL): c.848T> C (p.Val283Ala)SNVPathogenicrs113994167GRCh37Chr 17, 7125591: 7125591
29ACADVLNM_ 000018.3(ACADVL): c.869dupG (p.Ile291Hisfs)duplicationPathogenicrs886044671GRCh37Chr 17, 7125612: 7125612
30ACADVLNM_ 000018.3(ACADVL): c.1765delC (p.Leu589Terfs)deletionLikely pathogenicrs1057516226GRCh38Chr 17, 7224822: 7224822
31ACADVLNM_ 000018.3(ACADVL): c.497_ 498delTC (p.Ile166Serfs)deletionLikely pathogenicrs1057516369GRCh37Chr 17, 7124876: 7124877
32ACADVLNM_ 000018.3(ACADVL): c.1077+2T> CSNVLikely pathogenicrs1057516370GRCh38Chr 17, 7222867: 7222867
33ACADVLNM_ 000018.3(ACADVL): c.1280G> A (p.Trp427Ter)SNVLikely pathogenicrs1057516519GRCh37Chr 17, 7127142: 7127142
34ACADVLNM_ 000018.3(ACADVL): c.1077+1G> TSNVLikely pathogenicrs140989450GRCh38Chr 17, 7222866: 7222866
35ACADVLNM_ 000018.3(ACADVL): c.1077_ 1077+1delGGinsCACindelLikely pathogenicrs1057516686GRCh38Chr 17, 7222865: 7222866
36ACADVLNM_ 000018.3(ACADVL): c.644_ 647delGTCT (p.Cys215Terfs)deletionLikely pathogenicrs1057516714GRCh37Chr 17, 7125292: 7125295
37ACADVLNM_ 000018.3(ACADVL): c.1532+2T> CSNVLikely pathogenicrs111851815GRCh37Chr 17, 7127564: 7127564
38ACADVLNM_ 000018.3(ACADVL): c.138+2T> CSNVLikely pathogenicrs1057516817GRCh38Chr 17, 7220199: 7220199
39ACADVLNM_ 000018.3(ACADVL): c.1183-1G> ASNVLikely pathogenicrs1057516818GRCh37Chr 17, 7126962: 7126962
40ACADVLNM_ 000018.3(ACADVL): c.996dupT (p.Ala333Cysfs)duplicationLikely pathogenicrs1057516843GRCh38Chr 17, 7222784: 7222784
41ACADVLNM_ 000018.3(ACADVL): c.865G> A (p.Gly289Arg)SNVLikely pathogenicrs200788251GRCh38Chr 17, 7222289: 7222289
42ACADVLNM_ 000018.3(ACADVL): c.308_ 309delAA (p.Lys103Argfs)deletionLikely pathogenicrs1057516979GRCh37Chr 17, 7124115: 7124116
43ACADVLNM_ 000018.3(ACADVL): c.277+1G> TSNVLikely pathogenicrs1057517012GRCh37Chr 17, 7123996: 7123996
44ACADVLNM_ 000018.3(ACADVL): c.478-1G> CSNVLikely pathogenicrs1057517130GRCh38Chr 17, 7221537: 7221537
45ACADVLNM_ 000018.3(ACADVL): c.891delG (p.Lys298Argfs)deletionLikely pathogenicrs1057517180GRCh37Chr 17, 7125998: 7125998
46ACADVLNM_ 000018.3(ACADVL): c.996delT (p.Ala333Profs)deletionLikely pathogenicrs1057517231GRCh37Chr 17, 7126103: 7126103
47ACADVLNM_ 000018.3(ACADVL): c.1333-2A> TSNVLikely pathogenicrs1057517280GRCh37Chr 17, 7127285: 7127285
48ACADVLNM_ 000018.3(ACADVL): c.1141_ 1143delGAG (p.Glu381del)deletionLikely pathogenicrs1057517281GRCh37Chr 17, 7126515: 7126517
49ACADVLNM_ 000018.3(ACADVL): c.881_ 884dupGGCC (p.Pro296Alafs)duplicationLikely pathogenicrs1057517292GRCh37Chr 17, 7125988: 7125991
50ACADVLNM_ 000018.3(ACADVL): c.1355dupT (p.Arg453Profs)duplicationLikely pathogenicrs1057517331GRCh38Chr 17, 7223990: 7223990
51ACADVLNM_ 000018.3(ACADVL): c.1606-1G> ASNVLikely pathogenicrs1057517386GRCh37Chr 17, 7127798: 7127798
52ACADVLNM_ 000018.3(ACADVL): c.1113delG (p.Ile373Phefs)deletionLikely pathogenicrs1057517416GRCh38Chr 17, 7223168: 7223168
53ACADVLNM_ 000018.3(ACADVL): c.799_ 802delGTTA (p.Val267Glnfs)deletionLikely pathogenicrs1057517426GRCh38Chr 17, 7222223: 7222226
54ACADVLNM_ 000018.3(ACADVL): c.1592dupG (p.Ser532Glufs)duplicationLikely pathogenicGRCh38Chr 17, 7224380: 7224380
55ACADVLNM_ 000018.3(ACADVL): c.1106T> C (p.Phe369Ser)SNVLikely pathogenicrs398123080GRCh37Chr 17, 7126480: 7126480
56ACADVLNM_ 000018.3(ACADVL): c.1389dupG (p.Thr464Aspfs)duplicationPathogenicrs398123082GRCh37Chr 17, 7127343: 7127343
57ACADVLNM_ 000018.3(ACADVL): c.1406G> A (p.Arg469Gln)SNVPathogenic/ Likely pathogenicrs398123083GRCh37Chr 17, 7127360: 7127360
58ACADVLNM_ 000018.3(ACADVL): c.520G> A (p.Val174Met)SNVPathogenic/ Likely pathogenicrs369560930GRCh37Chr 17, 7124899: 7124899
59ACADVLNM_ 000018.3(ACADVL): c.753-2A> CSNVPathogenicrs398123092GRCh37Chr 17, 7125494: 7125494
60ACADVLNM_ 000018.3(ACADVL): c.896_ 898delAGA (p.Lys299del)deletionPathogenic/ Likely pathogenicrs387906252GRCh37Chr 17, 7126003: 7126005

Expression for genes affiliated with Vlcad Deficiency

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Search GEO for disease gene expression data for Vlcad Deficiency.

Pathways for genes affiliated with Vlcad Deficiency

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Pathways related to Vlcad Deficiency according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.9ACADVL, HADH
29.8HADHA, HADHB
39.6HADHA, MLYCD
4
Show member pathways
9.6HADHA, MLYCD
5
Show member pathways
9.6ACADL, HADH, HADHB
6
Show member pathways
9.5HADH, HADHA, HADHB
7
Show member pathways
9.5HADH, HADHA, HADHB
89.4CPT2, SLC25A20
9
Show member pathways
8.4ACADS, HADH, HADHA, HMGCL
10
Show member pathways
8.1ACADS, HADH, HADHA, HADHB, HMGCL
11
Show member pathways
8.1ACADL, ACADS, ACADVL, HADH, HADHA, HADHB
12
Show member pathways
7.7ACADL, ACADS, ACADVL, CPT2, HADH, HADHA
13
Show member pathways
7.1ACADL, ACADS, ACADVL, CPT2, HADH, HADHA
14
Show member pathways
6.6ACADL, ACADS, ACADVL, CPT2, HADH, HADHA
15
Show member pathways
5.8ACADL, ACADS, ACADVL, CPT2, HADH, HADHA

GO Terms for genes affiliated with Vlcad Deficiency

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Cellular components related to Vlcad Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:004264510.3ACADVL, HADHA, HADHB
2mitochondrial matrixGO:00057598.5ACADL, ACADS, ACADVL, HADH, HMGCL, MLYCD
3mitochondrial inner membraneGO:00057438.1ACADVL, CPT2, HADH, HADHA, HADHB, HMGCL
4mitochondrionGO:00057395.2ACADL, ACADS, ACADVL, C10orf10, CPT2, HADH

Biological processes related to Vlcad Deficiency according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.7ACADL, ACADVL
2negative regulation of fatty acid biosynthetic processGO:004571710.6ACADL, ACADVL
3negative regulation of fatty acid oxidationGO:004632210.6ACADL, ACADVL
4cardiolipin acyl-chain remodelingGO:003596510.5HADHA, HADHB
5regulation of cholesterol metabolic processGO:009018110.3ACADL, ACADVL
6acyl-CoA metabolic processGO:000663710.2HMGCL, MLYCD
7carnitine shuttleGO:000685310.2CPT2, SLC25A20
8temperature homeostasisGO:00016599.9ACADL, ACADVL
9metabolic processGO:00081529.1ACADL, ACADS, ACADVL, HADHA, HADHB
10oxidation-reduction processGO:00551148.8ACADL, ACADS, ACADVL, HADH, HADHA
11fatty acid beta-oxidationGO:00066358.4ACADL, ACADS, ACADVL, CPT2, HADH, HADHA
12fatty acid metabolic processGO:00066318.0ACADL, ACADS, ACADVL, CPT2, HADH, HADHA
13lipid metabolic processGO:00066297.4ACADL, ACADS, ACADVL, CPT2, HADH, HADHA

Molecular functions related to Vlcad Deficiency according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1long-chain-acyl-CoA dehydrogenase activityGO:000446610.6ACADL, ACADVL
2acetyl-CoA C-acyltransferase activityGO:000398810.5HADHA, HADHB
3enoyl-CoA hydratase activityGO:000430010.5HADHA, HADHB
4long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:001650910.5HADHA, HADHB
53-hydroxyacyl-CoA dehydrogenase activityGO:000385710.2HADH, HADHA, HADHB
6fatty-acyl-CoA bindingGO:000006210.0ACADL, HADHA, HMGCL
7lyase activityGO:00168299.8HADHA, HMGCL, MLYCD
8acyl-CoA dehydrogenase activityGO:00039959.8ACADL, ACADS, ACADVL
9flavin adenine dinucleotide bindingGO:00506609.8ACADL, ACADS, ACADVL
10oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.1ACADL, ACADS, ACADVL
11oxidoreductase activityGO:00164918.8ACADL, ACADS, ACADVL, HADH, HADHA

Sources for Vlcad Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet