MCID: ACY010
MIFTS: 60

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

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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 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
Lcad Deficiency 41 53 75
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 53 25
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


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 myoglobinuria, recurrent and myoglobinuria, and has symptoms including lethargy and vomiting. 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 lethargy

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.

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.

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 : 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.

Wikipedia : 76 Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) is a fatty-acid metabolism disorder... more...

GeneReviews:

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 30)
# Related Disease Score Top Affiliating Genes
1 myoglobinuria, recurrent 31.2 ACADVL CPT2
2 myoglobinuria 30.3 ACADVL CPT2
3 myopathy 29.3 ACADS ACADVL CPT2 HADHA HADHB
4 pericardial effusion 11.4
5 mitochondrial trifunctional protein deficiency 10.5 HADHA HADHB
6 citrullinemia, classic 10.4 ACADS SLC25A13
7 d-bifunctional protein deficiency 10.4 HADH HADHB
8 carnitine-acylcarnitine translocase deficiency 10.4 CPT2 SLC25A20
9 urea cycle disorder 10.3 ACADS SLC25A13
10 3-hydroxyacyl-coa dehydrogenase deficiency 10.3 ACADVL HADH HADHA
11 acyl-coa dehydrogenase, short-chain, deficiency of 10.2 ACADL ACADS SLC25A13
12 hypertrophic cardiomyopathy 10.2
13 dysferlinopathy 10.2
14 respiratory failure 10.1
15 carnitine deficiency, systemic primary 10.1 ACADVL CPT2 SLC25A20
16 bile duct disease 10.1 HADHA SLC25A13
17 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 ACADVL HADH HADHA HADHB
18 reye syndrome 10.0 HADHA HMGCL
19 acyl-coa dehydrogenase, medium-chain, deficiency of 10.0 ACADL ACADS ACADVL HADHA
20 3-methylcrotonyl-coa carboxylase deficiency 9.9 HMGCL MCCC1
21 isovaleric acidemia 9.9 ACADS HMGCL
22 ventricular fibrillation, paroxysmal familial, 1 9.9
23 dilated cardiomyopathy 9.9
24 respiratory syncytial virus infectious disease 9.9
25 organic acidemia 9.8 ACADS HMGCL
26 atrial standstill 1 9.6 ACADVL HADHA MLYCD SLC25A20
27 carnitine palmitoyltransferase ii deficiency, infantile 9.6 ACADL ACADVL CPT2 HADHB SLC25A20
28 autosomal recessive disease 9.5 HMGCL MLYCD SLC25A13
29 hypoglycemia 9.5 ACADL ACADVL CPT2 HADH SLC25A20
30 holocarboxylase synthetase deficiency 9.2 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 decreased activity of 3-hydroxyacyl-coa dehydrogenase 59 32 hallmark (90%) Very frequent (99-80%) HP:0100950
2 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
3 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
4 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
5 hepatocellular necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001404
6 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
7 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
8 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
9 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
10 dicarboxylic aciduria 59 32 frequent (33%) Frequent (79-30%) HP:0003215
11 decreased plasma carnitine 59 32 frequent (33%) Frequent (79-30%) HP:0003234
12 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
13 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
14 fatigable weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003473
15 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
16 exercise-induced myoglobinuria 59 32 frequent (33%) Frequent (79-30%) HP:0008305
17 elevated creatine kinase after exercise 59 32 frequent (33%) Frequent (79-30%) HP:0008331
18 exercise-induced rhabdomyolysis 59 32 frequent (33%) Frequent (79-30%) HP:0009045
19 mild expressive language delay 59 32 frequent (33%) Frequent (79-30%) HP:0011346
20 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
21 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
22 nonketotic hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001958
23 hypothermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002045
24 prolonged neonatal jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0006579
25 autistic behavior 59 32 very rare (1%) Very rare (<4-1%) HP:0000729
26 prolonged qt interval 59 32 very rare (1%) Very rare (<4-1%) HP:0001657
27 hyperammonemia 59 32 very rare (1%) Very rare (<4-1%) HP:0001987
28 atrial flutter 59 32 very rare (1%) Very rare (<4-1%) HP:0004749
29 myopathy 59 Frequent (79-30%)
30 emg: myopathic abnormalities 59 Frequent (79-30%)
31 cardiac arrest 59 Occasional (29-5%)
32 muscular hypotonia 32 HP:0001252
33 muscle weakness 32 HP:0001324
34 elevated serum creatine phosphokinase 32 HP:0003236
35 exercise-induced myalgia 32 HP:0003738
36 emg 32 frequent (33%) HP:0003458

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


lethargy, vomiting

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 HADH HADHA MCCC1 SLC25A20 ACADS ACADVL
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 SLC25A13 SLC25A20 ACADL ACADS ACADVL CPT2
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 HADHA HADHB HMGCL SLC25A13 SLC25A20 ACADL
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 22)
# 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 pancreatin
9 Anticoagulants Not Applicable
10 calcium heparin Not Applicable
11 Calcium, Dietary Not Applicable
12 Fat Emulsions, Intravenous Not Applicable
13 Fibrinolytic Agents Not Applicable
14 Hypoglycemic Agents Not Applicable
15 insulin Not Applicable
16 Insulin, Globin Zinc Not Applicable
17 Parenteral Nutrition Solutions Not Applicable
18 Pharmaceutical Solutions Not Applicable
19 Protective Agents Not Applicable
20 Soybean oil, phospholipid emulsion Not Applicable
21 Soy Bean Nutraceutical Not Applicable
22 pyruvate Nutraceutical

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 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

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

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

(show all 18)
# Title Authors Year
1
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models. ( 28247148 )
2017
2
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. ( 27246109 )
2016
3
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. ( 27209629 )
2016
4
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. ( 25834949 )
2015
5
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
6
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. ( 26453363 )
2015
7
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold Intolerance. ( 24285112 )
2013
8
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection. ( 24330285 )
2013
9
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. ( 19208414 )
2009
10
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. ( 19327992 )
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 new diagnostic test for VLCAD deficiency using immunohistochemistry. ( 15210884 )
2004
16
[A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis]. ( 15024832 )
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 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 345)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADVL ACADVL, 105-BP DEL undetermined variant Pathogenic
2 ACADVL NM_000018.3(ACADVL): c.1078_1182del105 single nucleotide variant Pathogenic/Likely pathogenic rs113690956 GRCh37 Chromosome 17, 7126557: 7126557
3 ACADVL NM_000018.3(ACADVL): c.1078_1182del105 single nucleotide variant Pathogenic/Likely pathogenic rs113690956 GRCh38 Chromosome 17, 7223238: 7223238
4 ACADVL NM_000018.3(ACADVL): c.1837C> T (p.Arg613Trp) single nucleotide variant Pathogenic/Likely pathogenic rs118204014 GRCh37 Chromosome 17, 7128285: 7128285
5 ACADVL NM_000018.3(ACADVL): c.1837C> T (p.Arg613Trp) single nucleotide variant Pathogenic/Likely pathogenic rs118204014 GRCh38 Chromosome 17, 7224966: 7224966
6 ACADVL NM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs) deletion Pathogenic/Likely pathogenic rs387906249 GRCh37 Chromosome 17, 7124243: 7124243
7 ACADVL NM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs) deletion Pathogenic/Likely pathogenic rs387906249 GRCh38 Chromosome 17, 7220924: 7220924
8 ACADVL NM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del) deletion Pathogenic/Likely pathogenic rs387906251 GRCh37 Chromosome 17, 7124288: 7124290
9 ACADVL NM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del) deletion Pathogenic/Likely pathogenic rs387906251 GRCh38 Chromosome 17, 7220969: 7220971
10 ACADVL NM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln) single nucleotide variant Pathogenic rs118204015 GRCh37 Chromosome 17, 7126518: 7126518
11 ACADVL NM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln) single nucleotide variant Pathogenic rs118204015 GRCh38 Chromosome 17, 7223199: 7223199
12 ACADVL NM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu) single nucleotide variant Pathogenic rs118204017 GRCh37 Chromosome 17, 7127326: 7127326
13 ACADVL NM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu) single nucleotide variant Pathogenic rs118204017 GRCh38 Chromosome 17, 7224007: 7224007
14 ACADVL NM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr) single nucleotide variant Pathogenic rs118204018 GRCh37 Chromosome 17, 7127026: 7127026
15 ACADVL NM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr) single nucleotide variant Pathogenic rs118204018 GRCh38 Chromosome 17, 7223707: 7223707
16 ACADVL NM_000018.3(ACADVL): c.1349G> A (p.Arg450His) single nucleotide variant Pathogenic/Likely pathogenic rs118204016 GRCh37 Chromosome 17, 7127303: 7127303
17 ACADVL NM_000018.3(ACADVL): c.1349G> A (p.Arg450His) single nucleotide variant Pathogenic/Likely pathogenic rs118204016 GRCh38 Chromosome 17, 7223984: 7223984
18 ACADVL NM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp) single nucleotide variant Pathogenic rs2309689 GRCh37 Chromosome 17, 7127184: 7127184
19 ACADVL NM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp) single nucleotide variant Pathogenic rs2309689 GRCh38 Chromosome 17, 7223865: 7223865
20 ACADVL NM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp) single nucleotide variant Likely pathogenic rs113994170 GRCh37 Chromosome 17, 7127359: 7127359
21 ACADVL NM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp) single nucleotide variant Likely pathogenic rs113994170 GRCh38 Chromosome 17, 7224040: 7224040
22 ACADVL NM_000018.3(ACADVL): c.1679-6G> A single nucleotide variant Pathogenic/Likely pathogenic rs113994171 GRCh37 Chromosome 17, 7127955: 7127955
23 ACADVL NM_000018.3(ACADVL): c.1679-6G> A single nucleotide variant Pathogenic/Likely pathogenic rs113994171 GRCh38 Chromosome 17, 7224636: 7224636
24 ACADVL NM_000018.3(ACADVL): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic/Likely pathogenic rs113994168 GRCh37 Chromosome 17, 7125522: 7125522
25 ACADVL NM_000018.3(ACADVL): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic/Likely pathogenic rs113994168 GRCh38 Chromosome 17, 7222203: 7222203
26 ACADVL NM_000018.3(ACADVL): c.848T> C (p.Val283Ala) single nucleotide variant Pathogenic rs113994167 GRCh37 Chromosome 17, 7125591: 7125591
27 ACADVL NM_000018.3(ACADVL): c.848T> C (p.Val283Ala) single nucleotide variant Pathogenic rs113994167 GRCh38 Chromosome 17, 7222272: 7222272
28 ACADVL NM_000018.3(ACADVL): c.1106T> C (p.Phe369Ser) single nucleotide variant Likely pathogenic rs398123080 GRCh37 Chromosome 17, 7126480: 7126480
29 ACADVL NM_000018.3(ACADVL): c.1106T> C (p.Phe369Ser) single nucleotide variant Likely pathogenic rs398123080 GRCh38 Chromosome 17, 7223161: 7223161
30 ACADVL NM_000018.3(ACADVL): c.1389dupG (p.Thr464Aspfs) duplication Pathogenic rs398123082 GRCh37 Chromosome 17, 7127343: 7127343
31 ACADVL NM_000018.3(ACADVL): c.1389dupG (p.Thr464Aspfs) duplication Pathogenic rs398123082 GRCh38 Chromosome 17, 7224024: 7224024
32 ACADVL NM_000018.3(ACADVL): c.1406G> A (p.Arg469Gln) single nucleotide variant Pathogenic/Likely pathogenic rs398123083 GRCh37 Chromosome 17, 7127360: 7127360
33 ACADVL NM_000018.3(ACADVL): c.1406G> A (p.Arg469Gln) single nucleotide variant Pathogenic/Likely pathogenic rs398123083 GRCh38 Chromosome 17, 7224041: 7224041
34 ACADVL NM_000018.3(ACADVL): c.520G> A (p.Val174Met) single nucleotide variant Pathogenic/Likely pathogenic rs369560930 GRCh37 Chromosome 17, 7124899: 7124899
35 ACADVL NM_000018.3(ACADVL): c.520G> A (p.Val174Met) single nucleotide variant Pathogenic/Likely pathogenic rs369560930 GRCh38 Chromosome 17, 7221580: 7221580
36 ACADVL NM_000018.3(ACADVL): c.753-2A> C single nucleotide variant Pathogenic rs398123092 GRCh37 Chromosome 17, 7125494: 7125494
37 ACADVL NM_000018.3(ACADVL): c.753-2A> C single nucleotide variant Pathogenic rs398123092 GRCh38 Chromosome 17, 7222175: 7222175
38 ACADVL NM_000018.3(ACADVL): c.1591C> T (p.Arg531Trp) single nucleotide variant Uncertain significance rs146379816 GRCh37 Chromosome 17, 7127698: 7127698
39 ACADVL NM_000018.3(ACADVL): c.1591C> T (p.Arg531Trp) single nucleotide variant Uncertain significance rs146379816 GRCh38 Chromosome 17, 7224379: 7224379
40 ACADVL NM_000018.3(ACADVL): c.65C> A (p.Ser22Ter) single nucleotide variant Pathogenic rs727503788 GRCh37 Chromosome 17, 7123443: 7123443
41 ACADVL NM_000018.3(ACADVL): c.65C> A (p.Ser22Ter) single nucleotide variant Pathogenic rs727503788 GRCh38 Chromosome 17, 7220124: 7220124
42 ACADVL NM_000018.3(ACADVL): c.-63_-49dupGGGCGTGCAGGACGC duplication Benign rs6145976 GRCh37 Chromosome 17, 7123241: 7123255
43 ACADVL NM_000018.3(ACADVL): c.-63_-49dupGGGCGTGCAGGACGC duplication Benign rs6145976 GRCh38 Chromosome 17, 7219922: 7219936
44 ACADVL NM_000018.3(ACADVL): c.623-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs144996066 GRCh37 Chromosome 17, 7125263: 7125263
45 ACADVL NM_000018.3(ACADVL): c.623-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs144996066 GRCh38 Chromosome 17, 7221944: 7221944
46 ACADVL NM_000018.3(ACADVL): c.1532+1G> A single nucleotide variant Pathogenic rs727503794 GRCh37 Chromosome 17, 7127563: 7127563
47 ACADVL NM_000018.3(ACADVL): c.1532+1G> A single nucleotide variant Pathogenic rs727503794 GRCh38 Chromosome 17, 7224244: 7224244
48 ACADVL NM_000018.3(ACADVL): c.298_299delCA (p.Gln100Valfs) deletion Pathogenic/Likely pathogenic rs786204713 GRCh37 Chromosome 17, 7124105: 7124106
49 ACADVL NM_000018.3(ACADVL): c.298_299delCA (p.Gln100Valfs) deletion Pathogenic/Likely pathogenic rs786204713 GRCh38 Chromosome 17, 7220786: 7220787
50 ACADVL NM_000018.3(ACADVL): c.433C> T (p.Gln145Ter) single nucleotide variant Likely pathogenic rs786204738 GRCh38 Chromosome 17, 7221014: 7221014

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 matrix GO:0005759 9.76 ACADL ACADS ACADVL GCDH HADH HMGCL
2 mitochondrial inner membrane GO:0005743 9.61 ACADVL CPT2 HADH HADHA HADHB 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 9.88 ACADL ACADS ACADVL GCDH HADH HADHA
2 lipid metabolic process GO:0006629 9.81 ACADL ACADS ACADVL CPT2 HADH HADHA
3 metabolic process GO:0008152 9.8 ACADL ACADS ACADVL GCDH HADHA HADHB
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 acyl-CoA metabolic process GO:0006637 9.54 GCDH HMGCL MLYCD
8 negative regulation of fatty acid biosynthetic process GO:0045717 9.52 ACADL ACADVL
9 regulation of cholesterol metabolic process GO:0090181 9.51 ACADL ACADVL
10 carnitine shuttle GO:0006853 9.49 CPT2 SLC25A20
11 leucine catabolic process GO:0006552 9.48 HMGCL MCCC1
12 cardiolipin acyl-chain remodeling GO:0035965 9.46 HADHA HADHB
13 negative regulation of fatty acid oxidation GO:0046322 9.43 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 11)
# 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 9.67 HADHA HMGCL MLYCD
3 flavin adenine dinucleotide binding GO:0050660 9.62 ACADL ACADS ACADVL GCDH
4 enoyl-CoA hydratase activity GO:0004300 9.48 HADHA HADHB
5 acetyl-CoA C-acyltransferase activity GO:0003988 9.46 HADHA HADHB
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACADL ACADS ACADVL GCDH
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.43 ACADL ACADVL
8 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.43 HADH HADHA HADHB
9 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.4 HADHA HADHB
10 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADL ACADS ACADVL GCDH
11 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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