MCID: VLC002
MIFTS: 59

Vlcad Deficiency

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

Aliases & Classifications for Vlcad Deficiency

MalaCards integrated aliases for Vlcad Deficiency:

Name: Vlcad Deficiency 54 39 23 50 24 25 56 71 13
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 12 24 56 29 14 69
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 23 50 24 25
Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 39 23 25
Lcad Deficiency 39 50 71
Long Chain Acyl-Coa Dehydrogenase Deficiency 56 69
Acadl Deficiency 50 71
Vlcadd 50 56
Long Chain/very Long Chain Acyl Coa Dehydrogenase Deficiency 69
Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24
Very Long-Chain Acyl Coenzyme a Dehydrogenase Deficiency 25
Acyl-Coa Dehydrogenase Very Long Chain Deficiency 25
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency 71
Acyl-Coenzyme a Dehydrogenase, Very Long Chain 13
Long-Chain Acyl-Coa Dehydrogenase Deficiency 50
Acyl-Coa Dehydrogenase Long-Chain Deficiency 71
Vlcad-C 25
Vlcad-H 25
Acadvld 71
Acadvl 25
Lcad 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
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
vlcad deficiency:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Severe forms are suspected to be fully penetrant...

Classifications:



External Ids:

OMIM 54 201475
Disease Ontology 12 DOID:0080155
UMLS via Orphanet 70 C3887523 C0220711
ICD10 via Orphanet 34 E71.3
MESH via Orphanet 43 C535690
MedGen 40 C0342784
MeSH 42 D008052

Summaries for Vlcad Deficiency

OMIM : 54
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 : Vlcad Deficiency, also known as very long chain acyl-coa dehydrogenase deficiency, is related to hypoglycemia and myosin storage myopathy, and has symptoms including hepatomegaly, lethargy and hypertrophic cardiomyopathy. An important gene associated with Vlcad Deficiency is ACADVL (Acyl-CoA Dehydrogenase, Very Long Chain), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Bezafibrate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and heart, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and homeostasis/metabolism

NIH Rare Diseases : 50 vlcad deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. vlcad deficiency is caused by changes (mutations) in the acadvl gene and is inherited in an autosomal recessive manner. treatment is based on the signs and symptoms present in each person. last updated: 6/29/2015

UniProtKB/Swiss-Prot : 71 Acyl-CoA dehydrogenase very long-chain deficiency: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.

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

Disease Ontology : 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.

GeneReviews: NBK6816

Related Diseases for Vlcad Deficiency

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 hypoglycemia 11.0
2 myosin storage myopathy 10.5 ACADVL CPT2
3 doyne honeycomb degeneration of retina 10.4 HADHA HADHB
4 perrault syndrome 1 10.4 HADH HADHB
5 myoglobinuria 10.4
6 hyperinsulinemic hypoglycemia, familial, 4 10.2 ACADVL HADH HADHA
7 abca12-related autosomal recessive congenital ichthyosis 10.2 HADH HADHA HADHB
8 wolfram syndrome 2 10.2 HADHA HADHB
9 mitochondrial dna depletion syndrome 12 10.2 ACADVL CPT2
10 malignant cardiac peripheral nerve sheath neoplasm 10.1 HADHA HMGCL
11 seckel syndrome 9 10.1 CPT2 SLC25A20
12 mitochondrial complex iii deficiency, nuclear type 4 10.1 CPT2 SLC25A20
13 orbital cancer 10.0 HADHA SLC25A13
14 ventricular tachycardia, catecholaminergic polymorphic, 1 10.0 ACADVL SLC25A20
15 deafness, autosomal dominant 25 10.0 ACADS SLC25A13
16 wagr syndrome 9.9 ACADS SLC25A13
17 hailey-hailey disease 9.9 HMGCL MLYCD SLC25A13
18 autosomal genetic disease 9.8 HMGCL MLYCD SLC25A13
19 dilated cardiomyopathy 9.8
20 cardiomyopathy 9.8
21 hemorrhoid 9.8 HADHA SLC25A13
22 maple syrup urine disease, type ii 9.8 HADHA HMGCL MLYCD
23 dyskeratosis congenita, autosomal recessive 1 9.7 ACADS HMGCL
24 triple x syndrome 9.7 ACADL ACADVL HADH SLC25A20
25 long qt syndrome 6 9.6 ACADL HADH SLC25A13 SLC25A20
26 body dysmorphic disorder 9.6 ACADS HMGCL
27 acyl-coa dehydrogenase, medium chain, deficiency of 9.5 ACADL ACADS ACADVL HADHA
28 casr-related disorders 9.4 ACADVL CPT2 HADHA SLC25A20
29 warburg micro syndrome 9.3 ACADL ACADVL CPT2 HADHB SLC25A20
30 fgb-related congenital afibrinogenemia 8.1 ACADL ACADS ACADVL CPT2 HADHA SLC25A13
31 cystinosis, ocular nonnephropathic 5.9 ACADL ACADS ACADVL C10orf10 CPT2 HADH

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



Diseases related to Vlcad Deficiency

Symptoms & Phenotypes for Vlcad Deficiency

Symptoms via clinical synopsis from OMIM:

54

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
Neurologic- Central Nervous System:
lethargy

Abdomen- Gastroin testinal:
vomiting

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

Abdomen- Liver:
hepatomegaly
hepatic steatosis
hepatocellular necrosis

Cardiovascular- Heart:
hypertrophic cardiomyopathy
sudden cardiac death
cardiac arrest

Metabolic Features:
nonketotic hypoglycemia

Respiratory:
tachypnea


Clinical features from OMIM:

201475

Human phenotypes related to Vlcad Deficiency:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 lethargy 32 HP:0001254
3 hypertrophic cardiomyopathy 32 HP:0001639
4 muscle weakness 32 HP:0001324
5 muscle stiffness 32 HP:0003552
6 vomiting 32 HP:0002013
7 nonketotic hypoglycemia 32 HP:0001958
8 decreased plasma carnitine 32 HP:0003234
9 hepatic steatosis 32 HP:0001397
10 sudden cardiac death 32 HP:0001645
11 tachypnea 32 HP:0002789
12 muscular hypotonia 32 HP:0001252
13 hepatocellular necrosis 32 HP:0001404
14 dicarboxylic aciduria 32 HP:0003215
15 exercise-induced myalgia 32 HP:0003738
16 elevated serum creatine phosphokinase 32 HP:0003236
17 exercise-induced myoglobinuria 32 HP:0008305
18 exercise-induced rhabdomyolysis 32 HP:0009045

UMLS symptoms related to Vlcad Deficiency:


lethargy, vomiting

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 ACADL ACADS HADH HADHA HADHB MLYCD

MGI Mouse Phenotypes related to Vlcad Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ACADL ACADS ACADVL CPT2 HADH HADHA
2 cardiovascular system MP:0005385 9.8 HADHB HMGCL MLYCD ACADL ACADVL HADHA
3 liver/biliary system MP:0005370 9.7 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 9.02 ACADL ACADS HADH HADHA SLC25A13

Drugs & Therapeutics for Vlcad Deficiency

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

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved Phase 2 41859-67-0 39042
2
Glycerol Approved, Investigational Phase 2 56-81-5 753
3 Antimetabolites Phase 2
4 Hypolipidemic Agents Phase 2
5 Lipid Regulating Agents Phase 2
6
Pancrelipase Approved 53608-75-6
7
Heparin Approved, Investigational 9005-49-6 772 46507594
8 pancreatin
9 Anticoagulants
10 calcium heparin
11 Calcium, Dietary
12 Fat Emulsions, Intravenous
13 Fibrinolytic Agents
14 Hypoglycemic Agents
15 insulin
16 Insulin, Globin Zinc
17 Parenteral Nutrition Solutions
18 Pharmaceutical Solutions
19 Protective Agents
20 Soybean oil, phospholipid emulsion
21 Soy Bean Nutraceutical
22 pyruvate Nutraceutical

Interventional clinical trials:


id 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 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
5 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
6 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
8 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin

Search NIH Clinical Center for Vlcad Deficiency

Genetic Tests for Vlcad Deficiency

Genetic tests related to Vlcad Deficiency:

id Genetic test Affiliating Genes
1 Very Long Chain Acyl-Coa Dehydrogenase Deficiency 29
2 Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24 ACADVL

Anatomical Context for Vlcad Deficiency

MalaCards organs/tissues related to Vlcad Deficiency:

39
Skeletal Muscle, Liver, Heart, Testes

Publications for Vlcad Deficiency

Articles related to Vlcad Deficiency:

(show all 18)
id 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
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. ( 27209629 )
2016
3
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. ( 27246109 )
2016
4
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. ( 26453363 )
2015
5
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. ( 25834949 )
2015
6
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
7
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection. ( 24330285 )
2013
8
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold Intolerance. ( 24285112 )
2013
9
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
Effects of a fat load and exercise on asymptomatic VLCAD deficiency. ( 17457695 )
2007
12
Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency. ( 17636072 )
2007
13
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. ( 17206456 )
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 Vlcad Deficiency

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

71 (show all 37)
id 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.Glu534Lys VAR_010105 rs2230180
37 ACADVL p.Arg615Gln VAR_010106 rs148584617

ClinVar genetic disease variations for Vlcad Deficiency:

6 (show top 50) (show all 60)
id 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.1837C> T (p.Arg613Trp) single nucleotide variant Pathogenic/Likely pathogenic rs118204014 GRCh37 Chromosome 17, 7128285: 7128285
4 ACADVL NM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs) deletion Pathogenic/Likely pathogenic rs387906249 GRCh37 Chromosome 17, 7124243: 7124243
5 ACADVL NM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del) deletion Pathogenic/Likely pathogenic rs387906251 GRCh37 Chromosome 17, 7124288: 7124290
6 ACADVL NM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln) single nucleotide variant Pathogenic rs118204015 GRCh37 Chromosome 17, 7126518: 7126518
7 ACADVL NM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu) single nucleotide variant Pathogenic rs118204017 GRCh37 Chromosome 17, 7127326: 7127326
8 ACADVL NM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr) single nucleotide variant Pathogenic rs118204018 GRCh37 Chromosome 17, 7127026: 7127026
9 ACADVL NM_000018.3(ACADVL): c.1349G> A (p.Arg450His) single nucleotide variant Pathogenic/Likely pathogenic rs118204016 GRCh37 Chromosome 17, 7127303: 7127303
10 ACADVL NM_000018.3(ACADVL): c.1226C> T (p.Thr409Met) single nucleotide variant Pathogenic rs113994169 GRCh37 Chromosome 17, 7127006: 7127006
11 ACADVL NM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp) single nucleotide variant Pathogenic rs2309689 GRCh37 Chromosome 17, 7127184: 7127184
12 ACADVL NM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp) single nucleotide variant Pathogenic/Likely pathogenic rs113994170 GRCh37 Chromosome 17, 7127359: 7127359
13 ACADVL NM_000018.3(ACADVL): c.1679-6G> A single nucleotide variant Pathogenic/Likely pathogenic rs113994171 GRCh37 Chromosome 17, 7127955: 7127955
14 ACADVL NM_000018.3(ACADVL): c.779C> T (p.Thr260Met) single nucleotide variant Pathogenic/Likely pathogenic rs113994168 GRCh37 Chromosome 17, 7125522: 7125522
15 ACADVL NM_000018.3(ACADVL): c.848T> C (p.Val283Ala) single nucleotide variant Pathogenic rs113994167 GRCh37 Chromosome 17, 7125591: 7125591
16 ACADVL NM_000018.3(ACADVL): c.1106T> C (p.Phe369Ser) single nucleotide variant Likely pathogenic rs398123080 GRCh37 Chromosome 17, 7126480: 7126480
17 ACADVL NM_000018.3(ACADVL): c.1389dupG (p.Thr464Aspfs) duplication Pathogenic rs398123082 GRCh37 Chromosome 17, 7127343: 7127343
18 ACADVL NM_000018.3(ACADVL): c.1406G> A (p.Arg469Gln) single nucleotide variant Pathogenic/Likely pathogenic rs398123083 GRCh37 Chromosome 17, 7127360: 7127360
19 ACADVL NM_000018.3(ACADVL): c.520G> A (p.Val174Met) single nucleotide variant Pathogenic/Likely pathogenic rs369560930 GRCh37 Chromosome 17, 7124899: 7124899
20 ACADVL NM_000018.3(ACADVL): c.753-2A> C single nucleotide variant Pathogenic rs398123092 GRCh37 Chromosome 17, 7125494: 7125494
21 ACADVL NM_000018.3(ACADVL): c.896_898delAGA (p.Lys299del) deletion Pathogenic/Likely pathogenic rs387906252 GRCh37 Chromosome 17, 7126003: 7126005
22 ACADVL NM_000018.3(ACADVL): c.65C> A (p.Ser22Ter) single nucleotide variant Pathogenic rs727503788 GRCh38 Chromosome 17, 7220124: 7220124
23 ACADVL NM_000018.3(ACADVL): c.1532+1G> A single nucleotide variant Pathogenic rs727503794 GRCh37 Chromosome 17, 7127563: 7127563
24 ACADVL NM_000018.3(ACADVL): c.298_299delCA (p.Gln100Valfs) deletion Pathogenic/Likely pathogenic rs786204713 GRCh37 Chromosome 17, 7124105: 7124106
25 ACADVL NM_000018.3(ACADVL): c.433C> T (p.Gln145Ter) single nucleotide variant Likely pathogenic rs786204738 GRCh38 Chromosome 17, 7221014: 7221014
26 ACADVL NM_000018.3(ACADVL): c.685C> T (p.Arg229Ter) single nucleotide variant Likely pathogenic rs786204536 GRCh37 Chromosome 17, 7125333: 7125333
27 ACADVL NM_000018.3(ACADVL): c.887_888delCT (p.Pro296Argfs) deletion Pathogenic/Likely pathogenic rs753108198 GRCh38 Chromosome 17, 7222675: 7222676
28 ACADVL NM_000018.3(ACADVL): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794727113 GRCh37 Chromosome 17, 7127311: 7127311
29 ACADVL NM_000018.3(ACADVL): c.637G> A (p.Ala213Thr) single nucleotide variant Pathogenic/Likely pathogenic rs140629318 GRCh37 Chromosome 17, 7125285: 7125285
30 ACADVL NM_000018.3(ACADVL): c.553G> A (p.Gly185Ser) single nucleotide variant Pathogenic/Likely pathogenic rs545215807 GRCh37 Chromosome 17, 7124932: 7124932
31 ACADVL NM_000018.3(ACADVL): c.1097G> A (p.Arg366His) single nucleotide variant Pathogenic/Likely pathogenic rs112406105 GRCh37 Chromosome 17, 7126471: 7126471
32 ACADVL NM_000018.3(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh38 Chromosome 17, 7224011: 7224011
33 ACADVL NM_000018.3(ACADVL): c.1504C> G (p.Leu502Val) single nucleotide variant Likely pathogenic rs779901247 GRCh37 Chromosome 17, 7127534: 7127534
34 ACADVL NM_000018.3(ACADVL): c.1532G> A (p.Arg511Gln) single nucleotide variant Likely pathogenic rs200771970 GRCh38 Chromosome 17, 7224243: 7224243
35 ACADVL NM_000018.3(ACADVL): c.869dupG (p.Ile291Hisfs) duplication Pathogenic rs886044671 GRCh37 Chromosome 17, 7125612: 7125612
36 ACADVL NM_000018.3(ACADVL): c.138+2T> C single nucleotide variant Likely pathogenic rs1057516817 GRCh38 Chromosome 17, 7220199: 7220199
37 ACADVL NM_000018.3(ACADVL): c.277+1G> T single nucleotide variant Likely pathogenic rs1057517012 GRCh38 Chromosome 17, 7220677: 7220677
38 ACADVL NM_000018.3(ACADVL): c.308_309delAA (p.Lys103Argfs) deletion Likely pathogenic rs1057516979 GRCh38 Chromosome 17, 7220796: 7220797
39 ACADVL NM_000018.3(ACADVL): c.478-1G> C single nucleotide variant Likely pathogenic rs1057517130 GRCh38 Chromosome 17, 7221537: 7221537
40 ACADVL NM_000018.3(ACADVL): c.497_498delTC (p.Ile166Serfs) deletion Likely pathogenic rs1057516369 GRCh38 Chromosome 17, 7221557: 7221558
41 ACADVL NM_000018.3(ACADVL): c.644_647delGTCT (p.Cys215Terfs) deletion Likely pathogenic rs1057516714 GRCh38 Chromosome 17, 7221973: 7221976
42 ACADVL NM_000018.3(ACADVL): c.799_802delGTTA (p.Val267Glnfs) deletion Likely pathogenic rs1057517426 GRCh38 Chromosome 17, 7222223: 7222226
43 ACADVL NM_000018.3(ACADVL): c.865G> A (p.Gly289Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200788251 GRCh38 Chromosome 17, 7222289: 7222289
44 ACADVL NM_000018.3(ACADVL): c.881_884dupGGCC (p.Pro296Alafs) duplication Likely pathogenic rs1057517292 GRCh37 Chromosome 17, 7125988: 7125991
45 ACADVL NM_000018.3(ACADVL): c.891delG (p.Lys298Argfs) deletion Likely pathogenic rs1057517180 GRCh38 Chromosome 17, 7222679: 7222679
46 ACADVL NM_000018.3(ACADVL): c.996delT (p.Ala333Profs) deletion Likely pathogenic rs1057517231 GRCh38 Chromosome 17, 7222784: 7222784
47 ACADVL NM_000018.3(ACADVL): c.996dupT (p.Ala333Cysfs) duplication Likely pathogenic rs1057516843 GRCh38 Chromosome 17, 7222784: 7222784
48 ACADVL NM_000018.3(ACADVL): c.1077_1077+1delGGinsCAC indel Likely pathogenic rs1057516686 GRCh38 Chromosome 17, 7222865: 7222866
49 ACADVL NM_000018.3(ACADVL): c.1077+1G> T single nucleotide variant Likely pathogenic rs140989450 GRCh38 Chromosome 17, 7222866: 7222866
50 ACADVL NM_000018.3(ACADVL): c.1077+2T> C single nucleotide variant Likely pathogenic rs1057516370 GRCh38 Chromosome 17, 7222867: 7222867

Expression for Vlcad Deficiency

Search GEO for disease gene expression data for Vlcad Deficiency.

Pathways for Vlcad Deficiency

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 ACADL ACADS ACADVL CPT2 HADH HADHA
2
Show member pathways
12.68 ACADL ACADS ACADVL CPT2 HADH HADHA
3
Show member pathways
11.8 ACADS HADH HADHA HADHB HMGCL
4
Show member pathways
11.46 ACADL ACADS ACADVL CPT2 HADH HADHA
5
Show member pathways
11.45 ACADL ACADS ACADVL HADH HADHA HADHB
6
Show member pathways
11.36 ACADL HADH HADHB
7
Show member pathways
11.29 HADH HADHA HADHB
8
Show member pathways
11.25 ACADS HADH HADHA HMGCL
9 11.18 ACADVL HADH
10
Show member pathways
11.06 HADHA MLYCD
11 11.02 HADHA MLYCD
12
Show member pathways
10.95 ACADL ACADS ACADVL CPT2 HADH HADHA
13 10.61 HADHA HADHB
14 10.52 CPT2 SLC25A20

GO Terms for Vlcad Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.63 ACADL ACADS ACADVL HADH HMGCL MLYCD
2 mitochondrial inner membrane GO:0005743 9.56 ACADVL CPT2 HADH HADHA HADHB HMGCL
3 mitochondrial nucleoid GO:0042645 9.43 ACADVL HADHA HADHB
4 mitochondrion GO:0005739 9.4 ACADL ACADS ACADVL C10orf10 CPT2 HADH

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.88 ACADL ACADS ACADVL HADH HADHA
2 lipid metabolic process GO:0006629 9.81 ACADL ACADS ACADVL CPT2 HADH HADHA
3 metabolic process GO:0008152 9.77 ACADL ACADS ACADVL HADHA HADHB
4 fatty acid metabolic process GO:0006631 9.56 ACADL ACADS ACADVL CPT2 HADH HADHA
5 acyl-CoA metabolic process GO:0006637 9.52 HMGCL MLYCD
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 9.46 ACADL ACADVL
9 carnitine shuttle GO:0006853 9.43 CPT2 SLC25A20
10 cardiolipin acyl-chain remodeling GO:0035965 9.4 HADHA HADHB
11 negative regulation of fatty acid oxidation GO:0046322 9.32 ACADL ACADVL
12 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADL ACADVL
13 fatty acid beta-oxidation GO:0006635 9.17 ACADL ACADS ACADVL CPT2 HADH HADHA

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.88 ACADL ACADS ACADVL HADH HADHA
2 lyase activity GO:0016829 9.67 HADHA HMGCL MLYCD
3 flavin adenine dinucleotide binding GO:0050660 9.61 ACADL ACADS ACADVL
4 enoyl-CoA hydratase activity GO:0004300 9.46 HADHA HADHB
5 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 ACADL ACADS ACADVL
6 acetyl-CoA C-acyltransferase activity GO:0003988 9.4 HADHA HADHB
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADL ACADVL
8 fatty-acyl-CoA binding GO:0000062 9.33 ACADL HADHA HMGCL
9 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.32 HADHA HADHB
10 acyl-CoA dehydrogenase activity GO:0003995 9.13 ACADL ACADS ACADVL
11 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.8 HADH HADHA HADHB

Sources for Vlcad Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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