MCID: VRY001
MIFTS: 55

Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

Neuronal diseases, Metabolic diseases categories

Summaries for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Vlcad deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). people with this condition have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids. signs and symptoms may occur during infancy, childhood or adulthood depending on the form of the condition present, and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. affected children are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. symptoms that begin in adolescence or adulthood tend to be milder and usually do not involve heart problems. mutations in the acadvl gene cause vlcad deficiency, and this disorder is inherited in an autosomal recessive manner. last updated: 12/10/2013

MalaCards: Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as vlcad deficiency, is related to hypoglycemia and sudden infant death syndrome. An important gene associated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADVL (acyl-CoA dehydrogenase, very long chain), and among its related pathways are FOXA2 and FOXA3 transcription factor networks and Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA. The compounds acetyl-l-carnitine and pristanic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and liver, and related mouse phenotypes are cardiovascular system and adipose tissue.

Genetics Home Reference:21 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).

Description from OMIM:46 201475

GeneReviews summary for vlcad

Aliases & Classifications for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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19GeneReviews, 20GeneTests, 21Genetics Home Reference, 42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
vlcad deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

very long-chain acyl-coenzyme a dehydrogenase deficiency 19 20 21
vlcad deficiency 19 42 21 46 48 60
very long-chain acyl-coa dehydrogenase deficiency 19 42 22 21
vlcadd 42 48
long chain/very long chain acyl coa dehydrogenase deficiency 60
very long-chain acyl coenzyme a dehydrogenase deficiency 21
very long chain acyl-coa dehydrogenase deficiency 48
acyl-coa dehydrogenase very long chain deficiency 21
vlcad-h 21
vlcad-c 21
acadvl 21


External Ids:

OMIM46 201475
ICD10 via Orphanet26 E71.3
SNOMED-CT via Orphanet57 237997005

Related Diseases for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



Diseases related to very long-chain acyl-coenzyme a dehydrogenase deficiency

Clinical Features for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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46OMIM
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Clinical features from OMIM:

201475

Clinical synopsis from OMIM:

201475

Drugs & Therapeutics for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Very Long Chain Acyl-Coenzyme a Dehydrogenase Deficiency20 ACADVL
2 Very Long Chain Acyl-Coa Dehydrogenase Deficiency22

Anatomical Context for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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32MalaCards
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MalaCards organs/tissues related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

32
Heart, Skeletal muscle, Liver

Animal Models for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5TFAP2A, ACADM, ACADVL, ACADL
2MP:00053758.4ACADVL, ACSL1, PLIN2
3MP:00053708.3ACADVL, ACADL, ACADM, PLIN2
4MP:00053767.6ACADM, ACSL1, ACADVL, ACADL, PLIN2

Publications for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Genetic Variations for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

62 (show all 37)
id Symbol AA change Variation ID SNP ID
1ACADVLp.Thr158AsnVAR_000332
2ACADVLp.Gln159ArgVAR_000333
3ACADVLp.Val174MetVAR_000334
4ACADVLp.Gly185SerVAR_000335
5ACADVLp.Glu218LysVAR_000336
6ACADVLp.Leu243ArgVAR_000337
7ACADVLp.Lys247ThrVAR_000338
8ACADVLp.Thr260MetVAR_000339rs113994168
9ACADVLp.Ala281AspVAR_000341
10ACADVLp.Val283AlaVAR_000342rs113994167
11ACADVLp.Gly290AspVAR_000343
12ACADVLp.Gly294GluVAR_000344rs200573371
13ACADVLp.Lys299AsnVAR_000345
14ACADVLp.Val317AlaVAR_000347
15ACADVLp.Met352ValVAR_000348
16ACADVLp.Arg366CysVAR_000349
17ACADVLp.Arg366HisVAR_000350rs112406105
18ACADVLp.Lys382GlnVAR_000352rs118204015
19ACADVLp.Asp405HisVAR_000353
20ACADVLp.Gly441AspVAR_000354rs2309689
21ACADVLp.Arg450HisVAR_000355rs118204016
22ACADVLp.Arg453GlnVAR_000356rs138058572
23ACADVLp.Asp454AsnVAR_000357
24ACADVLp.Arg456HisVAR_000358
25ACADVLp.Arg459TrpVAR_000359
26ACADVLp.Gly463GluVAR_000360rs200366828
27ACADVLp.Arg469GlnVAR_000361
28ACADVLp.Arg469TrpVAR_000362rs113994170
29ACADVLp.Leu502ProVAR_000363
30ACADVLp.Leu602IleVAR_000364
31ACADVLp.Arg613TrpVAR_000365rs118204014
32ACADVLp.Ala213ProVAR_010101rs140629318
33ACADVLp.Lys247GluVAR_010102
34ACADVLp.Phe458LeuVAR_010103rs118204017
35ACADVLp.Ala490ProVAR_010104
36ACADVLp.Glu534LysVAR_010105rs2230180
37ACADVLp.Arg615GlnVAR_010106rs148584617

Expression for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search GEO for disease gene expression data for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience
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Compounds related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1acetyl-l-carnitine449.7ACADVL, ACADM
2pristanic acid44 28 2411.7ACSL1, ACADL
3palmitate449.6ACADVL, ACADM
4s-adenosylmethionine44 11 2411.5ACADVL, ACADM
5ciglitazone44 2810.2PLIN2, TFAP2A
6triacylglycerol449.1TFAP2A, PLIN2
7mannose 6-phosphate44 2410.0PLIN2, TFAP2A
8rosiglitazone44 49 28 11 2412.9TFAP2A, PLIN2
92-methylbutyryl-coa44 249.9ACADL, ACADVL, ACSL1, ACADM
10octanoyl-coa44 249.9ACADM, ACSL1, ACADVL, ACADL
11(2E)-Octenoyl-CoA248.9ACADVL, ACSL1, ACADM, ACADL
12(2E)-Tetradecenoyl-CoA248.9ACADL, ACADVL, ACSL1, ACADM
13(2E)-Dodecenoyl-CoA248.9ACADM, ACADL, ACADVL, ACSL1
14(2E)-Decenoyl-CoA248.9ACADL, ACADVL, ACSL1, ACADM
15(2E)-Hexadecenoyl-CoA248.9ACADM, ACSL1, ACADVL, ACADL
16stearoyl-coa44 249.9ACADM, ACSL1, ACADVL, ACADL
17oleic acid44 28 11 2411.8ACSL1, ACADM, PLIN2
18acetyl-coa44 249.8ACADM, ACSL1, ACADVL, ACADL
19troglitazone44 28 59 1111.7PLIN2, TFAP2A
20carnitine448.6PLIN2, ACADM, ACADVL, ACADL
21arachidonic acid44 28 11 2411.4TFAP2A, PLIN2, ACADVL, ACADL
22glucose448.3TFAP2A, PLIN2, ACADM, ACADVL
23acyl-coa447.5ACADL, ACADVL, ACSL1, ACADM, PLIN2, TFAP2A
24fatty acid447.5TFAP2A, PLIN2, ACADM, ACSL1, ACADVL, ACADL
25lipid447.4TFAP2A, PLIN2, ACADM, ACSL1, ACADVL, ACADL

GO Terms for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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16Gene Ontology
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Cellular components related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.8ACADL, ACADVL, ACADM
2mitochondrionGO:0057398.6ACADL, ACADVL, ACSL1, ACADM

Biological processes related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of fatty acid oxidationGO:0463229.8ACADL, ACADVL
2regulation of cholesterol metabolic processGO:0901819.7ACADVL, ACADL
3carnitine metabolic process, CoA-linkedGO:0192549.7ACADL, ACADM
4negative regulation of fatty acid biosynthetic processGO:0457179.6ACADVL, ACADL
5temperature homeostasisGO:0016599.5ACADL, ACADVL
6oxidation-reduction processGO:0551149.5ACADL, ACADM
7fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:0335399.3ACADL, ACADVL, ACADM
8fatty acid beta-oxidationGO:0066359.3ACADM, ACADVL, ACADL
9response to organic cyclic compoundGO:0140708.8ACSL1, PLIN2
10cellular lipid metabolic processGO:0442558.0ACADL, ACADVL, ACSL1, ACADM, PLIN2
11small molecule metabolic processGO:0442817.8ACADL, ACADVL, ACSL1, ACADM, PLIN2

Molecular functions related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1long-chain-acyl-CoA dehydrogenase activityGO:0044669.3ACADL, ACADVL
2flavin adenine dinucleotide bindingGO:0506609.1ACADL, ACADVL, ACADM
3acyl-CoA dehydrogenase activityGO:0039959.0ACADL, ACADVL, ACADM

Products for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet