ACADVLD
MCID: ACY010
MIFTS: 62

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 57
Vlcad Deficiency 57 41 76 24 53 25 59 75 37 13
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 12 59 29 6 15 73
Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 41 24 25
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 24 53 25
Lcad Deficiency 41 53 75
Long Chain Acyl-Coa Dehydrogenase Deficiency 59 73
Acadl Deficiency 53 75
Acadvld 57 75
Vlcadd 53 59
Long Chain/very Long Chain Acyl Coa Dehydrogenase Deficiency 73
Very Long-Chain Acyl Coenzyme a Dehydrogenase Deficiency 25
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency of 76
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase 40
Acyl-Coa Dehydrogenase Very Long Chain Deficiency 25
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency 75
Acyl-Coenzyme a Dehydrogenase, Very Long Chain 13
Long-Chain Acyl-Coa Dehydrogenase Deficiency 53
Acyl-Coa Dehydrogenase Long-Chain Deficiency 75
Vlcad-C 25
Vlcad-H 25
Acadvl 25
Lcad 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
acyl-coa dehydrogenase, very long-chain, deficiency of:
Inheritance autosomal recessive inheritance


GeneReviews:

24
Penetrance Severe forms are suspected to be fully penetrant...

Classifications:



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

OMIM : 57 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 acyl-coa dehydrogenase, medium-chain, deficiency of, 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 Lipid Regulating Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and liver, and related phenotypes are sudden cardiac death and hypothermia

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 : 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).

NIH Rare Diseases : 53 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 : 75 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 : 76 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 43)
# Related Disease Score Top Affiliating Genes
1 3-hydroxyacyl-coa dehydrogenase deficiency 31.9 ACADVL HADH HADHA
2 acyl-coa dehydrogenase, medium-chain, deficiency of 31.8 ACADL ACADS ACADVL HADHA
3 carnitine deficiency, systemic primary 31.7 ACADVL CPT2 SLC25A20
4 multiple acyl-coa dehydrogenase deficiency 31.7 ACADS ACADVL CPT2
5 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 31.7 ACADVL HADH HADHA HADHB
6 atrial standstill 1 31.5 ACADVL HADHA MLYCD SLC25A20
7 carnitine palmitoyltransferase ii deficiency, infantile 31.4 ACADL ACADVL CPT2 HADHB SLC25A20
8 carnitine palmitoyltransferase i deficiency 31.4 ACADVL CPT2 HADH HADHA SLC25A20
9 myoglobinuria 31.0 ACADVL CPT2
10 myoglobinuria, recurrent 30.9 ACADVL CPT2
11 reye syndrome 30.4 HADHA HMGCL
12 hypoglycemia 30.2 ACADL ACADVL CPT2 HADH SLC25A20
13 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 30.1 ACADVL CPT2
14 pericardial effusion 11.6
15 pearson marrow-pancreas syndrome 11.1
16 vitamin b12 deficiency 11.1
17 muscular disease 11.1
18 dysferlinopathy 10.3
19 hypertrophic cardiomyopathy 10.3
20 respiratory failure 10.3
21 myopathy 10.3
22 surfactant dysfunction 10.3
23 hypotonia 10.3
24 hyperinsulinemic hypoglycemia, familial, 6 10.2 HADH HADHA
25 mitochondrial trifunctional protein deficiency 10.2 HADHA HADHB
26 citrullinemia, classic 10.1 ACADS SLC25A13
27 carbonic anhydrase va deficiency, hyperammonemia due to 10.1 SLC25A13 SLC25A20
28 carnitine-acylcarnitine translocase deficiency 10.1 CPT2 SLC25A20
29 urea cycle disorder 10.1 ACADS SLC25A13
30 hyperphenylalaninemia, bh4-deficient, a 10.1 SLC25A13 SLC25A20
31 acyl-coa dehydrogenase, short-chain, deficiency of 10.1 ACADL ACADS SLC25A13
32 ventricular fibrillation, paroxysmal familial, 1 10.0
33 dilated cardiomyopathy 10.0
34 viral infectious disease 10.0
35 d-bifunctional protein deficiency 10.0 HADH HADHB
36 muscle disorders 10.0
37 hemopericardium 10.0
38 isovaleric acidemia 10.0 ACADS HMGCL
39 3-methylcrotonyl-coa carboxylase deficiency 10.0 HMGCL MCCC1
40 propionic acidemia 9.9 HMGCL MLYCD SLC25A13
41 autosomal recessive disease 9.9 HMGCL MLYCD SLC25A13
42 organic acidemia 9.8 ACADS HMGCL
43 holocarboxylase synthetase deficiency 9.8 ACADL HADH HMGCL 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden cardiac death
hypertrophic cardiomyopathy
cardiac arrest

Abdomen Gastrointestinal:
vomiting

Respiratory:
tachypnea

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

Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatocellular necrosis

Neurologic Central Nervous System:
lethargy

Metabolic Features:
nonketotic hypoglycemia

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

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

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
2 hypothermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002045
3 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
4 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
5 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
6 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
7 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
8 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
9 prolonged qt interval 59 32 very rare (1%) Very rare (<4-1%) HP:0001657
10 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
11 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
12 hyperammonemia 59 32 very rare (1%) Very rare (<4-1%) HP:0001987
13 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
14 prolonged neonatal jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0006579
15 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
16 fatigable weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003473
17 autistic behavior 59 32 very rare (1%) Very rare (<4-1%) HP:0000729
18 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
19 elevated creatine kinase after exercise 59 32 frequent (33%) Frequent (79-30%) HP:0008331
20 exercise-induced rhabdomyolysis 59 32 frequent (33%) Frequent (79-30%) HP:0009045
21 nonketotic hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001958
22 dicarboxylic aciduria 59 32 frequent (33%) Frequent (79-30%) HP:0003215
23 decreased plasma carnitine 59 32 frequent (33%) Frequent (79-30%) HP:0003234
24 decreased activity of 3-hydroxyacyl-coa dehydrogenase 59 32 hallmark (90%) Very frequent (99-80%) HP:0100950
25 hepatocellular necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001404
26 exercise-induced myoglobinuria 59 32 frequent (33%) Frequent (79-30%) HP:0008305
27 mild expressive language delay 59 32 frequent (33%) Frequent (79-30%) HP:0011346
28 atrial flutter 59 32 very rare (1%) Very rare (<4-1%) HP:0004749
29 muscular hypotonia 32 HP:0001252
30 muscle weakness 32 HP:0001324
31 myopathy 59 Frequent (79-30%)
32 elevated serum creatine phosphokinase 32 HP:0003236
33 emg: myopathic abnormalities 59 Frequent (79-30%)
34 exercise-induced myalgia 32 HP:0003738
35 cardiac arrest 59 Occasional (29-5%)
36 emg 32 frequent (33%) HP:0003458

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 9.5 ACADS ACADVL GCDH HADH HADHA MCCC1
2 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 ACADL ACADS HADH HADHA HADHB MCCC1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ACADL ACADS ACADVL CPT2 GCDH HADH
2 cardiovascular system MP:0005385 9.92 ACADL ACADVL CPT2 HADHA HADHB HMGCL
3 liver/biliary system MP:0005370 9.76 ACADL ACADS ACADVL HADHA HADHB HMGCL
4 mortality/aging MP:0010768 9.61 ACADL ACADS ACADVL CPT2 HADHA HADHB
5 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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
2 Lipid Regulating Agents Phase 2
3 Antimetabolites Phase 2
4 Hypolipidemic Agents Phase 2
5
Pancrelipase Approved, Investigational 53608-75-6
6
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
7
Glycerol Approved, Investigational Not Applicable 56-81-5 753
8 pancreatin
9 Soybean oil, phospholipid emulsion Not Applicable
10 Fat Emulsions, Intravenous Not Applicable
11 Hypoglycemic Agents Not Applicable
12 insulin Not Applicable
13 Calcium, Dietary Not Applicable
14 Insulin, Globin Zinc Not Applicable
15 Pharmaceutical Solutions Not Applicable
16 Soy Bean Not Applicable
17 Anticoagulants Not Applicable
18 calcium heparin Not Applicable
19 Fibrinolytic Agents Not Applicable
20 Protective Agents Not Applicable
21 Parenteral Nutrition Solutions Not Applicable

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 Acute Nutritional Ketosis in VLCAD Deficiency Completed NCT03531554 Not Applicable
4 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
5 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
6 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
7 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 29 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:

41
Skeletal Muscle, Heart, Liver, Testes, Bone, Pancreas

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:

75 (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
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
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 685)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADL NM_001608.3(ACADL): c.997A> C (p.Lys333Gln) single nucleotide variant Benign rs2286963 GRCh37 Chromosome 2, 211060050: 211060050
2 ACADL NM_001608.3(ACADL): c.997A> C (p.Lys333Gln) single nucleotide variant Benign rs2286963 GRCh38 Chromosome 2, 210195326: 210195326
3 ACADVL ACADVL, 105-BP DEL undetermined variant Pathogenic
4 ACADVL NM_000018.3(ACADVL): c.1078_1182del105 single nucleotide variant Pathogenic/Likely pathogenic rs113690956 GRCh37 Chromosome 17, 7126557: 7126557
5 ACADVL NM_000018.3(ACADVL): c.1078_1182del105 single nucleotide variant Pathogenic/Likely pathogenic rs113690956 GRCh38 Chromosome 17, 7223238: 7223238
6 ACADVL NM_000018.3(ACADVL): c.1837C> T (p.Arg613Trp) single nucleotide variant Pathogenic/Likely pathogenic rs118204014 GRCh37 Chromosome 17, 7128285: 7128285
7 ACADVL NM_000018.3(ACADVL): c.1837C> T (p.Arg613Trp) single nucleotide variant Pathogenic/Likely pathogenic rs118204014 GRCh38 Chromosome 17, 7224966: 7224966
8 ACADVL NM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs) deletion Pathogenic/Likely pathogenic rs387906249 GRCh37 Chromosome 17, 7124243: 7124243
9 ACADVL NM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs) deletion Pathogenic/Likely pathogenic rs387906249 GRCh38 Chromosome 17, 7220924: 7220924
10 ACADVL NM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del) deletion Pathogenic/Likely pathogenic rs387906251 GRCh37 Chromosome 17, 7124288: 7124290
11 ACADVL NM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del) deletion Pathogenic/Likely pathogenic rs387906251 GRCh38 Chromosome 17, 7220969: 7220971
12 ACADVL NM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln) single nucleotide variant Pathogenic rs118204015 GRCh37 Chromosome 17, 7126518: 7126518
13 ACADVL NM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln) single nucleotide variant Pathogenic rs118204015 GRCh38 Chromosome 17, 7223199: 7223199
14 ACADVL NM_000018.3(ACADVL): c.194C> T (p.Pro65Leu) single nucleotide variant Benign/Likely benign rs28934585 GRCh37 Chromosome 17, 7123838: 7123838
15 ACADVL NM_000018.3(ACADVL): c.194C> T (p.Pro65Leu) single nucleotide variant Benign/Likely benign rs28934585 GRCh38 Chromosome 17, 7220519: 7220519
16 ACADVL NM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu) single nucleotide variant Pathogenic rs118204017 GRCh37 Chromosome 17, 7127326: 7127326
17 ACADVL NM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu) single nucleotide variant Pathogenic rs118204017 GRCh38 Chromosome 17, 7224007: 7224007
18 ACADVL NM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr) single nucleotide variant Pathogenic rs118204018 GRCh37 Chromosome 17, 7127026: 7127026
19 ACADVL NM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr) single nucleotide variant Pathogenic rs118204018 GRCh38 Chromosome 17, 7223707: 7223707
20 ACADVL NM_000018.3(ACADVL): c.1349G> A (p.Arg450His) single nucleotide variant Pathogenic/Likely pathogenic rs118204016 GRCh37 Chromosome 17, 7127303: 7127303
21 ACADVL NM_000018.3(ACADVL): c.1349G> A (p.Arg450His) single nucleotide variant Pathogenic/Likely pathogenic rs118204016 GRCh38 Chromosome 17, 7223984: 7223984
22 ACADVL NM_000018.3(ACADVL): c.1038G> A (p.Ala346=) single nucleotide variant Benign/Likely benign rs8064573 GRCh37 Chromosome 17, 7126145: 7126145
23 ACADVL NM_000018.3(ACADVL): c.1038G> A (p.Ala346=) single nucleotide variant Benign/Likely benign rs8064573 GRCh38 Chromosome 17, 7222826: 7222826
24 ACADVL NM_000018.3(ACADVL): c.1226C> T (p.Thr409Met) single nucleotide variant Uncertain significance rs113994169 GRCh37 Chromosome 17, 7127006: 7127006
25 ACADVL NM_000018.3(ACADVL): c.1226C> T (p.Thr409Met) single nucleotide variant Uncertain significance rs113994169 GRCh38 Chromosome 17, 7223687: 7223687
26 ACADVL NM_000018.3(ACADVL): c.1284G> A (p.Lys428=) single nucleotide variant Likely benign rs35501596 GRCh37 Chromosome 17, 7127146: 7127146
27 ACADVL NM_000018.3(ACADVL): c.1284G> A (p.Lys428=) single nucleotide variant Likely benign rs35501596 GRCh38 Chromosome 17, 7223827: 7223827
28 ACADVL NM_000018.3(ACADVL): c.128G> A (p.Gly43Asp) single nucleotide variant Benign/Likely benign rs2230178 GRCh37 Chromosome 17, 7123506: 7123506
29 ACADVL NM_000018.3(ACADVL): c.128G> A (p.Gly43Asp) single nucleotide variant Benign/Likely benign rs2230178 GRCh38 Chromosome 17, 7220187: 7220187
30 ACADVL NM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp) single nucleotide variant Pathogenic rs2309689 GRCh37 Chromosome 17, 7127184: 7127184
31 ACADVL NM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp) single nucleotide variant Pathogenic rs2309689 GRCh38 Chromosome 17, 7223865: 7223865
32 ACADVL NM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp) single nucleotide variant Pathogenic/Likely pathogenic rs113994170 GRCh37 Chromosome 17, 7127359: 7127359
33 ACADVL NM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp) single nucleotide variant Pathogenic/Likely pathogenic rs113994170 GRCh38 Chromosome 17, 7224040: 7224040
34 ACADVL NM_000018.3(ACADVL): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2230180 GRCh37 Chromosome 17, 7127707: 7127707
35 ACADVL NM_000018.3(ACADVL): c.1600G> A (p.Glu534Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2230180 GRCh38 Chromosome 17, 7224388: 7224388
36 ACADVL NM_000018.3(ACADVL): c.1679-6G> A single nucleotide variant Pathogenic/Likely pathogenic rs113994171 GRCh37 Chromosome 17, 7127955: 7127955
37 ACADVL NM_000018.3(ACADVL): c.1679-6G> A single nucleotide variant Pathogenic/Likely pathogenic rs113994171 GRCh38 Chromosome 17, 7224636: 7224636
38 ACADVL NM_000018.3(ACADVL): c.1965C> T (p.Phe655=) single nucleotide variant Benign rs9674 GRCh37 Chromosome 17, 7128413: 7128413
39 ACADVL NM_000018.3(ACADVL): c.1965C> T (p.Phe655=) single nucleotide variant Benign rs9674 GRCh38 Chromosome 17, 7225094: 7225094
40 ACADVL NM_000018.3(ACADVL): c.49C> T (p.Leu17Phe) single nucleotide variant Benign/Likely benign rs2230179 GRCh37 Chromosome 17, 7123352: 7123352
41 ACADVL NM_000018.3(ACADVL): c.49C> T (p.Leu17Phe) single nucleotide variant Benign/Likely benign rs2230179 GRCh38 Chromosome 17, 7220033: 7220033
42 ACADVL NM_000018.3(ACADVL): c.68G> A (p.Arg23Gln) single nucleotide variant Benign/Likely benign rs34153370 GRCh37 Chromosome 17, 7123446: 7123446
43 ACADVL NM_000018.3(ACADVL): c.68G> A (p.Arg23Gln) single nucleotide variant Benign/Likely benign rs34153370 GRCh38 Chromosome 17, 7220127: 7220127
44 ACADVL NM_000018.3(ACADVL): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic/Likely pathogenic rs113994168 GRCh37 Chromosome 17, 7125522: 7125522
45 ACADVL NM_000018.3(ACADVL): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic/Likely pathogenic rs113994168 GRCh38 Chromosome 17, 7222203: 7222203
46 ACADVL NM_000018.3(ACADVL): c.848T> C (p.Val283Ala) single nucleotide variant Pathogenic rs113994167 GRCh37 Chromosome 17, 7125591: 7125591
47 ACADVL NM_000018.3(ACADVL): c.848T> C (p.Val283Ala) single nucleotide variant Pathogenic rs113994167 GRCh38 Chromosome 17, 7222272: 7222272
48 ACADVL NM_000018.3(ACADVL): c.739A> C (p.Lys247Gln) single nucleotide variant no interpretation for the single variant rs387906253 GRCh37 Chromosome 17, 7125387: 7125387
49 ACADVL NM_000018.3(ACADVL): c.739A> C (p.Lys247Gln) single nucleotide variant no interpretation for the single variant rs387906253 GRCh38 Chromosome 17, 7222068: 7222068
50 ACADVL NM_000018.3(ACADVL): c.*8delC deletion Uncertain significance rs398123078 GRCh37 Chromosome 17, 7128424: 7128424

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:

37
# 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
13.81 ACADL ACADS ACADVL CPT2 GCDH HADH
2
Show member pathways
12.68 ACADL ACADS ACADVL CPT2 HADH HADHA
3
Show member pathways
11.97 GCDH HADH HADHA
4
Show member pathways
11.87 ACADS HADH HADHA HADHB HMGCL MCCC1
5 11.65 HADH HMGCL MCCC1
6
Show member pathways
11.52 ACADL ACADS ACADVL CPT2 GCDH HADH
7
Show member pathways
11.45 ACADL ACADS ACADVL HADH HADHA HADHB
8 11.44 GCDH HADH HADHA
9
Show member pathways
11.38 ACADL HADH HADHB
10
Show member pathways
11.36 HADH HADHA HADHB
11
Show member pathways
11.28 ACADS HADH HADHA HMGCL
12 11.22 ACADVL HADH
13
Show member pathways
11.1 HADHA MLYCD
14 11.06 HADHA MLYCD
15
Show member pathways
11 ACADL ACADS ACADVL CPT2 GCDH HADH
16 10.65 HADHA HADHB
17
Show member pathways
10.61 HADH HADHA HADHB
18 10.57 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 9.63 ACADVL CPT2 HADHA HADHB SLC25A13 SLC25A20
2 mitochondrial matrix GO:0005759 9.56 ACADL ACADS ACADVL GCDH HADH HMGCL
3 peroxisome GO:0005777 9.5 DEPP1 HMGCL MLYCD
4 mitochondrion GO:0005739 9.47 ACADL ACADS ACADVL CPT2 DEPP1 GCDH
5 mitochondrial nucleoid GO:0042645 9.43 ACADVL HADHA HADHB

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 ACADL ACADS ACADVL GCDH HADH HADHA
2 lipid metabolic process GO:0006629 9.81 ACADL ACADS ACADVL CPT2 HADH HADHA
3 positive regulation of cold-induced thermogenesis GO:0120162 9.65 ACADL CPT2 HADH
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.56 ACADL ACADS ACADVL GCDH
5 fatty acid metabolic process GO:0006631 9.56 ACADL ACADS ACADVL CPT2 HADH HADHA
6 temperature homeostasis GO:0001659 9.54 ACADL ACADVL
7 negative regulation of fatty acid biosynthetic process GO:0045717 9.52 ACADL ACADVL
8 fatty acid oxidation GO:0019395 9.51 GCDH MLYCD
9 acyl-CoA metabolic process GO:0006637 9.5 GCDH HMGCL MLYCD
10 regulation of cholesterol metabolic process GO:0090181 9.49 ACADL ACADVL
11 carnitine shuttle GO:0006853 9.46 CPT2 SLC25A20
12 leucine catabolic process GO:0006552 9.43 HMGCL MCCC1
13 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADL ACADVL
14 fatty acid beta-oxidation GO:0006635 9.17 ACADL ACADS ACADVL CPT2 HADH HADHA

Molecular functions 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 oxidoreductase activity GO:0016491 9.85 ACADL ACADS ACADVL GCDH HADH HADHA
2 lyase activity GO:0016829 9.7 HADHA HMGCL MLYCD
3 flavin adenine dinucleotide binding GO:0050660 9.62 ACADL ACADS ACADVL GCDH
4 enoyl-CoA hydratase activity GO:0004300 9.51 HADHA HADHB
5 acetyl-CoA C-acyltransferase activity GO:0003988 9.49 HADHA HADHB
6 acetyl-CoA C-acetyltransferase activity GO:0003985 9.48 HADHA HADHB
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.46 ACADL ACADVL
8 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACADL ACADS ACADVL GCDH
9 long-chain-enoyl-CoA hydratase activity GO:0016508 9.43 HADHA HADHB
10 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.43 HADH HADHA HADHB
11 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.4 HADHA HADHB
12 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADL ACADS ACADVL GCDH
13 fatty-acyl-CoA binding GO:0000062 9.02 ACADL ACADVL GCDH HADHA HMGCL

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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