ACADVLD
MCID: ACY010
MIFTS: 60

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of (ACADVLD)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

MalaCards integrated aliases for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

Name: Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 58
Vlcad Deficiency 58 42 77 25 54 26 60 76 38 13
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 12 60 30 6 15 74
Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 42 25 26
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 25 54 26
Lcad Deficiency 42 54 76
Long Chain Acyl-Coa Dehydrogenase Deficiency 60 74
Acadl Deficiency 54 76
Acadvld 58 76
Vlcadd 54 60
Long Chain/very Long Chain Acyl Coa Dehydrogenase Deficiency 74
Very Long-Chain Acyl Coenzyme a Dehydrogenase Deficiency 26
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency of 77
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase 41
Acyl-Coa Dehydrogenase Very Long Chain Deficiency 26
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency 76
Acyl-Coenzyme a Dehydrogenase, Very Long Chain 13
Long-Chain Acyl-Coa Dehydrogenase Deficiency 54
Acyl-Coa Dehydrogenase Long-Chain Deficiency 76
Vlcad-C 26
Vlcad-H 26
Acadvl 26
Lcad 60

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
three main clinical forms
severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis


HPO:

33
acyl-coa dehydrogenase, very long-chain, deficiency of:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Severe forms are suspected to be fully penetrant...

Classifications:



Summaries for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

OMIM : 58 Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (201450), short-chain acyl-CoA dehydrogenase deficiency (201470), and very long-chain acyl-CoA dehydrogenase deficiency. VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999). Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001). (201475)

MalaCards based summary : Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of, also known as vlcad deficiency, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and long-chain 3-hydroxyacyl-coa dehydrogenase deficiency, and has symptoms including vomiting and lethargy. An important gene associated with Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of is ACADVL (Acyl-CoA Dehydrogenase Very Long Chain), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. The drugs Bezafibrate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and liver, and related phenotypes are decreased activity of 3-hydroxyacyl-coa dehydrogenase and hepatomegaly

Disease Ontology : 12 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.

Genetics Home Reference : 26 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).

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a fatty-acid metabolism disorder... more...

GeneReviews: NBK6816

Related Diseases for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Diseases related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 3-hydroxyacyl-coa dehydrogenase deficiency 31.5 ACADM ACADVL HADH HADHA
2 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 31.4 ACADM ACADVL HADH HADHA
3 carnitine deficiency, systemic primary 31.4 ACADVL CPT2 SLC25A20
4 atrial standstill 1 31.3 ACADVL HADHA SLC25A20
5 acyl-coa dehydrogenase, short-chain, deficiency of 31.3 ACADL ACADM ACADS SLC25A13
6 acyl-coa dehydrogenase, medium-chain, deficiency of 31.2 ACADL ACADM ACADS ACADVL HADHA
7 myoglobinuria 31.2 ACADVL CPT2
8 carnitine palmitoyltransferase ii deficiency, infantile 31.1 ACADL ACADVL CPT2 SLC25A20
9 myoglobinuria, recurrent 31.1 ACADVL CPT2
10 carnitine palmitoyltransferase i deficiency 30.9 ACADVL CPT2 HADH HADHA SLC25A20
11 reye syndrome 30.4 ACADM HADHA
12 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 30.3 ACADVL CPT2
13 hypoglycemia 29.2 ACADL ACADM ACADVL CPT2 HADH SLC25A20
14 pericardial effusion 11.6
15 pearson marrow-pancreas syndrome 11.1
16 3-methylcrotonyl-coa carboxylase deficiency 11.1
17 vitamin b12 deficiency 11.1
18 muscular disease 11.1
19 dysferlinopathy 10.3
20 hypertrophic cardiomyopathy 10.3
21 respiratory failure 10.3
22 myopathy 10.3
23 diabetes mellitus, noninsulin-dependent 10.3
24 surfactant dysfunction 10.3
25 hypotonia 10.3
26 hyperinsulinemic hypoglycemia, familial, 6 10.2 HADH HADHA
27 muscle hypertrophy 10.2
28 citrullinemia, classic 10.1 ACADS SLC25A13
29 urea cycle disorder 10.1 ACADS SLC25A13
30 ventricular fibrillation, paroxysmal familial, 1 10.1
31 fatty liver disease, nonalcoholic 1 10.1
32 dilated cardiomyopathy 10.1
33 multiple acyl-coa dehydrogenase deficiency 10.1 ACADS ACADVL CPT2
34 muscle disorders 10.0
35 hemopericardium 10.0
36 carnitine-acylcarnitine translocase deficiency 9.9 CPT2 SLC25A20
37 organic acidemia 9.9 ACADM ACADS
38 carbonic anhydrase va deficiency, hyperammonemia due to 9.8 SLC25A13 SLC25A20
39 hyperphenylalaninemia, bh4-deficient, a 9.8 SLC25A13 SLC25A20
40 phenylketonuria 9.8 ACADM HADHA
41 holocarboxylase synthetase deficiency 9.6 ACADL HADH SLC25A13 SLC25A20

Graphical network of the top 20 diseases related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:



Diseases related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Symptoms & Phenotypes for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Human phenotypes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased activity of 3-hydroxyacyl-coa dehydrogenase 60 33 hallmark (90%) Very frequent (99-80%) HP:0100950
2 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
3 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
4 hypertrophic cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001639
5 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
6 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
7 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
8 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
9 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
10 muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0003552
11 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
12 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
13 fatigable weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003473
14 tachypnea 60 33 frequent (33%) Frequent (79-30%) HP:0002789
15 elevated creatine kinase after exercise 60 33 frequent (33%) Frequent (79-30%) HP:0008331
16 exercise-induced rhabdomyolysis 60 33 frequent (33%) Frequent (79-30%) HP:0009045
17 decreased plasma carnitine 60 33 frequent (33%) Frequent (79-30%) HP:0003234
18 dicarboxylic aciduria 60 33 frequent (33%) Frequent (79-30%) HP:0003215
19 hepatocellular necrosis 60 33 frequent (33%) Frequent (79-30%) HP:0001404
20 exercise-induced myoglobinuria 60 33 frequent (33%) Frequent (79-30%) HP:0008305
21 mild expressive language delay 60 33 frequent (33%) Frequent (79-30%) HP:0011346
22 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
23 hypothermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002045
24 prolonged neonatal jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0006579
25 nonketotic hypoglycemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001958
26 prolonged qt interval 60 33 very rare (1%) Very rare (<4-1%) HP:0001657
27 hyperammonemia 60 33 very rare (1%) Very rare (<4-1%) HP:0001987
28 autistic behavior 60 33 very rare (1%) Very rare (<4-1%) HP:0000729
29 atrial flutter 60 33 very rare (1%) Very rare (<4-1%) HP:0004749
30 muscular hypotonia 33 HP:0001252
31 muscle weakness 33 HP:0001324
32 myopathy 60 Frequent (79-30%)
33 exercise-induced myalgia 33 HP:0003738
34 cardiac arrest 60 Occasional (29-5%)
35 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
hypertrophic cardiomyopathy
cardiac arrest

Abdomen Gastrointestinal:
vomiting

Respiratory:
tachypnea

Metabolic Features:
nonketotic hypoglycemia

Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatocellular necrosis

Neurologic Central Nervous System:
lethargy

Laboratory Abnormalities:
decreased plasma carnitine
dicarboxylic aciduria
decreased very long-chain acyl-coa dehydrogenase protein and activity
exercise-induced myoglobinuria in adults
increased serum creatine kinase in patients with muscle involvement

Muscle Soft Tissue:
hypotonia
muscle weakness associated with fasting or infection
muscle pain with exercise (in older patients)
muscle stiffness (in older patients)
rhabdomyolysis with exercise (in older patients)
more

Clinical features from OMIM:

201475

UMLS symptoms related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:


vomiting, lethargy

GenomeRNAi Phenotypes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 9.17 ACADS ACADVL GCDH HADH HADHA MCCC1

MGI Mouse Phenotypes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 ACADL ACADM ACADS ACADVL CPT2 GCDH
2 cardiovascular system MP:0005385 9.91 ACADL ACADM ACADVL CPT2 HADHA PRKCQ
3 mortality/aging MP:0010768 9.81 ACADL ACADM ACADS ACADVL CPT2 HADHA
4 liver/biliary system MP:0005370 9.8 ACADL ACADM ACADS ACADVL HADHA SLC25A13
5 muscle MP:0005369 9.35 ACADM ACADS ACADVL HADHA PRKCQ
6 renal/urinary system MP:0005367 9.17 ACADL ACADS GCDH HADH HADHA SLC25A13

Drugs & Therapeutics for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
2
Glycerol Approved, Investigational Phase 2,Not Applicable 56-81-5 753
3 Antimetabolites Phase 2
4 Hypolipidemic Agents Phase 2
5 Lipid Regulating Agents Phase 2
6
Pancrelipase Approved, Investigational 53608-75-6
7
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
8
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
9 pancreatin
10 Soybean oil, phospholipid emulsion Not Applicable
11 Insulin, Globin Zinc Not Applicable
12 Calcium, Dietary Not Applicable
13 Anticoagulants Not Applicable
14 insulin Not Applicable
15 Pharmaceutical Solutions Not Applicable
16 Protective Agents Not Applicable
17 Soy Bean Not Applicable
18 Parenteral Nutrition Solutions Not Applicable
19 Fat Emulsions, Intravenous Not Applicable
20 Hypoglycemic Agents Not Applicable
21 calcium heparin Not Applicable
22 Fibrinolytic Agents Not Applicable
23 pyruvate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
2 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
3 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder Completed NCT01379625 Phase 2 Triheptanoin
4 Acute Nutritional Ketosis in VLCAD Deficiency Completed NCT03531554 Not Applicable
5 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
6 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
8 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
9 Effect of Exercise and Training on Fat Oxidation During Overfeeding - the FeedEX Study Terminated NCT02333916 Not Applicable

Search NIH Clinical Center for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Genetic Tests for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Genetic tests related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

# Genetic test Affiliating Genes
1 Very Long Chain Acyl-Coa Dehydrogenase Deficiency 30 ACADVL

Anatomical Context for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

MalaCards organs/tissues related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

42
Skeletal Muscle, Heart, Liver, Testes

Publications for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Articles related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

(show all 20)
# Title Authors Year
1
Metabolite accumulation in VLCAD deficiency markedly disrupts mitochondrial bioenergetics and Ca2+ homeostasis in the heart. ( 29476646 )
2018
2
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation. ( 30023301 )
2018
3
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models. ( 28247148 )
2017
4
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. ( 27246109 )
2016
5
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. ( 27209629 )
2016
6
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. ( 25834949 )
2015
7
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
8
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. ( 26453363 )
2015
9
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold Intolerance. ( 24285112 )
2013
10
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection. ( 24330285 )
2013
11
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. ( 19208414 )
2009
12
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. ( 19327992 )
2009
13
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. ( 17206456 )
2007
14
Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency. ( 17636072 )
2007
15
Effects of a fat load and exercise on asymptomatic VLCAD deficiency. ( 17457695 )
2007
16
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. ( 16488171 )
2006
17
A new diagnostic test for VLCAD deficiency using immunohistochemistry. ( 15210884 )
2004
18
[A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis]. ( 15024832 )
2004
19
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots. ( 10830467 )
2000
20
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 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

UniProtKB/Swiss-Prot genetic disease variations for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

76 (show all 36)
# Symbol AA change Variation ID SNP ID
1 ACADVL p.Thr158Asn VAR_000332
2 ACADVL p.Gln159Arg VAR_000333 rs746688190
3 ACADVL p.Val174Met VAR_000334 rs369560930
4 ACADVL p.Gly185Ser VAR_000335 rs545215807
5 ACADVL p.Glu218Lys VAR_000336 rs143218307
6 ACADVL p.Leu243Arg VAR_000337
7 ACADVL p.Lys247Thr VAR_000338
8 ACADVL p.Thr260Met VAR_000339 rs113994168
9 ACADVL p.Ala281Asp VAR_000341
10 ACADVL p.Val283Ala VAR_000342 rs113994167
11 ACADVL p.Gly290Asp VAR_000343 rs866464446
12 ACADVL p.Gly294Glu VAR_000344 rs200573371
13 ACADVL p.Lys299Asn VAR_000345 rs774716484
14 ACADVL p.Val317Ala VAR_000347 rs398123095
15 ACADVL p.Met352Val VAR_000348
16 ACADVL p.Arg366Cys VAR_000349 rs771874163
17 ACADVL p.Arg366His VAR_000350 rs112406105
18 ACADVL p.Lys382Gln VAR_000352 rs118204015
19 ACADVL p.Asp405His VAR_000353
20 ACADVL p.Gly441Asp VAR_000354 rs2309689
21 ACADVL p.Arg450His VAR_000355 rs118204016
22 ACADVL p.Arg453Gln VAR_000356 rs138058572
23 ACADVL p.Asp454Asn VAR_000357 rs141960620
24 ACADVL p.Arg456His VAR_000358 rs794727112
25 ACADVL p.Arg459Trp VAR_000359 rs766742117
26 ACADVL p.Gly463Glu VAR_000360 rs200366828
27 ACADVL p.Arg469Gln VAR_000361 rs398123083
28 ACADVL p.Arg469Trp VAR_000362 rs113994170
29 ACADVL p.Leu502Pro VAR_000363
30 ACADVL p.Leu602Ile VAR_000364
31 ACADVL p.Arg613Trp VAR_000365 rs118204014
32 ACADVL p.Ala213Pro VAR_010101 rs140629318
33 ACADVL p.Lys247Glu VAR_010102
34 ACADVL p.Phe458Leu VAR_010103 rs118204017
35 ACADVL p.Ala490Pro VAR_010104 rs759775666
36 ACADVL p.Arg615Gln VAR_010106 rs148584617

ClinVar genetic disease variations for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

6 (show top 50) (show all 681)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADVL NM_000018.3(ACADVL): c.538G> A (p.Ala180Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727503791 GRCh37 Chromosome 17, 7124917: 7124917
2 ACADVL NM_000018.3(ACADVL): c.538G> A (p.Ala180Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727503791 GRCh38 Chromosome 17, 7221598: 7221598
3 ACADVL NM_000018.4(ACADVL): c.1591C> T (p.Arg531Trp) single nucleotide variant Uncertain significance rs146379816 GRCh37 Chromosome 17, 7127698: 7127698
4 ACADVL NM_000018.4(ACADVL): c.1591C> T (p.Arg531Trp) single nucleotide variant Uncertain significance rs146379816 GRCh38 Chromosome 17, 7224379: 7224379
5 ACADVL NM_000018.3(ACADVL): c.992A> C (p.Lys331Thr) single nucleotide variant Uncertain significance rs727503792 GRCh37 Chromosome 17, 7126099: 7126099
6 ACADVL NM_000018.3(ACADVL): c.992A> C (p.Lys331Thr) single nucleotide variant Uncertain significance rs727503792 GRCh38 Chromosome 17, 7222780: 7222780
7 ACADVL NM_000018.3(ACADVL): c.637G> C (p.Ala213Pro) single nucleotide variant Uncertain significance rs140629318 GRCh37 Chromosome 17, 7125285: 7125285
8 ACADVL NM_000018.3(ACADVL): c.637G> C (p.Ala213Pro) single nucleotide variant Uncertain significance rs140629318 GRCh38 Chromosome 17, 7221966: 7221966
9 ACADVL NM_000018.3(ACADVL): c.65C> A (p.Ser22Ter) single nucleotide variant Pathogenic rs727503788 GRCh37 Chromosome 17, 7123443: 7123443
10 ACADVL NM_000018.3(ACADVL): c.65C> A (p.Ser22Ter) single nucleotide variant Pathogenic rs727503788 GRCh38 Chromosome 17, 7220124: 7220124
11 ACADVL NM_000018.3(ACADVL): c.-63_-49dupGGGCGTGCAGGACGC duplication Benign rs6145976 GRCh37 Chromosome 17, 7123241: 7123255
12 ACADVL NM_000018.3(ACADVL): c.-63_-49dupGGGCGTGCAGGACGC duplication Benign rs6145976 GRCh38 Chromosome 17, 7219922: 7219936
13 ACADVL NM_000018.3(ACADVL): c.623-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs144996066 GRCh37 Chromosome 17, 7125263: 7125263
14 ACADVL NM_000018.3(ACADVL): c.623-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs144996066 GRCh38 Chromosome 17, 7221944: 7221944
15 ACADVL NM_001270447.1(ACADVL): c.52A> G (p.Ile18Val) single nucleotide variant Uncertain significance rs730880036 GRCh38 Chromosome 17, 7217739: 7217739
16 ACADVL NM_001270447.1(ACADVL): c.52A> G (p.Ile18Val) single nucleotide variant Uncertain significance rs730880036 GRCh37 Chromosome 17, 7121058: 7121058
17 ACADVL NM_000018.3(ACADVL): c.298_299delCA (p.Gln100Valfs) deletion Pathogenic/Likely pathogenic rs786204713 GRCh37 Chromosome 17, 7124105: 7124106
18 ACADVL NM_000018.3(ACADVL): c.298_299delCA (p.Gln100Valfs) deletion Pathogenic/Likely pathogenic rs786204713 GRCh38 Chromosome 17, 7220786: 7220787
19 ACADVL NM_000018.3(ACADVL): c.433C> T (p.Gln145Ter) single nucleotide variant Likely pathogenic rs786204738 GRCh38 Chromosome 17, 7221014: 7221014
20 ACADVL NM_000018.3(ACADVL): c.433C> T (p.Gln145Ter) single nucleotide variant Likely pathogenic rs786204738 GRCh37 Chromosome 17, 7124333: 7124333
21 ACADVL NM_000018.3(ACADVL): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204536 GRCh37 Chromosome 17, 7125333: 7125333
22 ACADVL NM_000018.3(ACADVL): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204536 GRCh38 Chromosome 17, 7222014: 7222014
23 ACADVL NM_000018.3(ACADVL): c.887_888delCT (p.Pro296Argfs) deletion Pathogenic/Likely pathogenic rs753108198 GRCh38 Chromosome 17, 7222675: 7222676
24 ACADVL NM_000018.3(ACADVL): c.887_888delCT (p.Pro296Argfs) deletion Pathogenic/Likely pathogenic rs753108198 GRCh37 Chromosome 17, 7125994: 7125995
25 ACADVL NM_000018.3(ACADVL): c.1066A> G (p.Ile356Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150140386 GRCh37 Chromosome 17, 7126173: 7126173
26 ACADVL NM_000018.3(ACADVL): c.1066A> G (p.Ile356Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150140386 GRCh38 Chromosome 17, 7222854: 7222854
27 ACADVL NM_000018.3(ACADVL): c.1153C> T (p.Arg385Trp) single nucleotide variant Uncertain significance rs745832866 GRCh37 Chromosome 17, 7126527: 7126527
28 ACADVL NM_000018.3(ACADVL): c.1153C> T (p.Arg385Trp) single nucleotide variant Uncertain significance rs745832866 GRCh38 Chromosome 17, 7223208: 7223208
29 ACADVL NM_000018.3(ACADVL): c.1434+14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs202217537 GRCh37 Chromosome 17, 7127402: 7127402
30 ACADVL NM_000018.3(ACADVL): c.1434+14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs202217537 GRCh38 Chromosome 17, 7224083: 7224083
31 ACADVL NM_000018.3(ACADVL): c.1366C> T (p.Arg456Cys) single nucleotide variant Uncertain significance rs794727111 GRCh37 Chromosome 17, 7127320: 7127320
32 ACADVL NM_000018.3(ACADVL): c.1366C> T (p.Arg456Cys) single nucleotide variant Uncertain significance rs794727111 GRCh38 Chromosome 17, 7224001: 7224001
33 ACADVL NM_000018.3(ACADVL): c.1367G> A (p.Arg456His) single nucleotide variant Conflicting interpretations of pathogenicity rs794727112 GRCh37 Chromosome 17, 7127321: 7127321
34 ACADVL NM_000018.3(ACADVL): c.1367G> A (p.Arg456His) single nucleotide variant Conflicting interpretations of pathogenicity rs794727112 GRCh38 Chromosome 17, 7224002: 7224002
35 ACADVL NM_000018.3(ACADVL): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794727113 GRCh37 Chromosome 17, 7127311: 7127311
36 ACADVL NM_000018.3(ACADVL): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794727113 GRCh38 Chromosome 17, 7223992: 7223992
37 ACADVL NM_000018.3(ACADVL): c.1844G> A (p.Arg615Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148584617 GRCh37 Chromosome 17, 7128292: 7128292
38 ACADVL NM_000018.3(ACADVL): c.1844G> A (p.Arg615Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs148584617 GRCh38 Chromosome 17, 7224973: 7224973
39 ACADVL NM_000018.3(ACADVL): c.637G> A (p.Ala213Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140629318 GRCh37 Chromosome 17, 7125285: 7125285
40 ACADVL NM_000018.3(ACADVL): c.637G> A (p.Ala213Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140629318 GRCh38 Chromosome 17, 7221966: 7221966
41 ACADVL NM_000018.3(ACADVL): c.482C> T (p.Ala161Val) single nucleotide variant Conflicting interpretations of pathogenicity rs796051908 GRCh37 Chromosome 17, 7124861: 7124861
42 ACADVL NM_000018.3(ACADVL): c.482C> T (p.Ala161Val) single nucleotide variant Conflicting interpretations of pathogenicity rs796051908 GRCh38 Chromosome 17, 7221542: 7221542
43 ACADVL NM_000018.3(ACADVL): c.535G> T (p.Gly179Trp) single nucleotide variant Uncertain significance rs796051909 GRCh38 Chromosome 17, 7221595: 7221595
44 ACADVL NM_000018.3(ACADVL): c.535G> T (p.Gly179Trp) single nucleotide variant Uncertain significance rs796051909 GRCh37 Chromosome 17, 7124914: 7124914
45 ACADVL NM_000018.4(ACADVL): c.553G> A (p.Gly185Ser) single nucleotide variant Pathogenic/Likely pathogenic rs545215807 GRCh38 Chromosome 17, 7221613: 7221613
46 ACADVL NM_000018.4(ACADVL): c.553G> A (p.Gly185Ser) single nucleotide variant Pathogenic/Likely pathogenic rs545215807 GRCh37 Chromosome 17, 7124932: 7124932
47 ACADVL NM_000018.3(ACADVL): c.818G> C (p.Gly273Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs150149784 GRCh37 Chromosome 17, 7125561: 7125561
48 ACADVL NM_000018.3(ACADVL): c.818G> C (p.Gly273Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs150149784 GRCh38 Chromosome 17, 7222242: 7222242
49 ACADVL NM_000018.3(ACADVL): c.829_831delGAG (p.Glu277del) deletion Conflicting interpretations of pathogenicity rs796051913 GRCh37 Chromosome 17, 7125572: 7125574
50 ACADVL NM_000018.3(ACADVL): c.829_831delGAG (p.Glu277del) deletion Conflicting interpretations of pathogenicity rs796051913 GRCh38 Chromosome 17, 7222253: 7222255

Expression for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Search GEO for disease gene expression data for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of.

Pathways for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Pathways related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to KEGG:

38
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ACADL ACADM ACADS ACADVL CPT2 GCDH
2
Show member pathways
12.63 ACADL ACADM ACADS ACADVL CPT2 HADH
3
Show member pathways
12.07 ACADM ACADS HADHA
4
Show member pathways
11.8 ACADM ACADS HADH HADHA MCCC1
5
Show member pathways
11.63 GCDH HADH HADHA
6 11.63 ACADM HADH MCCC1
7 11.52 ACADL ACADM CPT2
8
Show member pathways
11.45 ACADL ACADM ACADS ACADVL HADH HADHA
9 11.4 GCDH HADH HADHA
10
Show member pathways
11.33 ACADL ACADM ACADS ACADVL CPT2 GCDH
11
Show member pathways
11.3 ACADL HADH
12 11.25 ACADM ACADVL HADH
13
Show member pathways
11.21 ACADL ACADM ACADS ACADVL CPT2 GCDH
14
Show member pathways
11.16 ACADS HADH HADHA
15
Show member pathways
11.09 ACADM HADHA
16 11.05 ACADM HADHA
17 10.95 ACADM CPT2
18 10.55 CPT2 SLC25A20

GO Terms for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Cellular components related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.55 ACADVL CPT2 HADHA SLC25A13 SLC25A20
2 mitochondrial matrix GO:0005759 9.5 ACADL ACADM ACADS ACADVL GCDH HADH
3 mitochondrial membrane GO:0031966 9.43 ACADL ACADM ACADVL
4 mitochondrion GO:0005739 9.36 ACADL ACADM ACADS ACADVL CPT2 GCDH
5 mitochondrial nucleoid GO:0042645 9.32 ACADVL HADHA

Biological processes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.87 ACADL ACADM ACADS ACADVL GCDH HADH
2 lipid metabolic process GO:0006629 9.8 ACADL ACADM ACADS ACADVL CPT2 HADH
3 fatty acid metabolic process GO:0006631 9.7 ACADL ACADM ACADS ACADVL CPT2 HADH
4 positive regulation of cold-induced thermogenesis GO:0120162 9.63 ACADL CPT2 HADH
5 response to cold GO:0009409 9.52 ACADM ACADVL
6 temperature homeostasis GO:0001659 9.51 ACADL ACADVL
7 negative regulation of fatty acid biosynthetic process GO:0045717 9.49 ACADL ACADVL
8 regulation of cholesterol metabolic process GO:0090181 9.48 ACADL ACADVL
9 carnitine shuttle GO:0006853 9.43 CPT2 SLC25A20
10 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADL ACADVL
11 carnitine metabolic process, CoA-linked GO:0019254 9.37 ACADL ACADM
12 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.35 ACADL ACADM ACADS ACADVL GCDH
13 fatty acid beta-oxidation GO:0006635 9.17 ACADL ACADM ACADS ACADVL CPT2 HADH

Molecular functions related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.87 ACADL ACADM ACADS ACADVL GCDH HADH
2 fatty-acyl-CoA binding GO:0000062 9.56 ACADL ACADVL GCDH HADHA
3 flavin adenine dinucleotide binding GO:0050660 9.55 ACADL ACADM ACADS ACADVL GCDH
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.4 HADH HADHA
5 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADL ACADVL
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.35 ACADL ACADM ACADS ACADVL GCDH
7 acyl-CoA dehydrogenase activity GO:0003995 9.02 ACADL ACADM ACADS ACADVL GCDH

Sources for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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