MCID: VRY001
MIFTS: 39

Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Neuronal diseases categories

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

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 hypertrophic cardiomyopathy and dysferlinopathy. An important gene associated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADVL (acyl-CoA dehydrogenase, very long chain). Affiliated tissues include liver, heart and skeletal muscle.

Genetics Home Reference:22 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:48 201475

GeneReviews summary for vlcad

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

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
vlcad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

very long-chain acyl-coenzyme a dehydrogenase deficiency 20 21 22
vlcad deficiency 20 44 22 48 50 63
very long-chain acyl-coa dehydrogenase deficiency 20 44 23 22
vlcadd 44 50
long chain/very long chain acyl coa dehydrogenase deficiency 63
very long-chain acyl coenzyme a dehydrogenase deficiency 22
very long chain acyl-coa dehydrogenase deficiency 50
acyl-coa dehydrogenase very long chain deficiency 22
vlcad-h 22
vlcad-c 22
acadvl 22


External Ids:

OMIM48 201475
ICD10 via Orphanet27 E71.3
SNOMED-CT via Orphanet60 237997005

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

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18GeneCards, 19GeneDecks
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Diseases related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy10.6
2dysferlinopathy10.6
3myopathy10.5
4respiratory failure10.5
5pericardial effusion10.3
6dilated cardiomyopathy10.2
7systemic primary carnitine deficiency disease10.2
8carnitine palmitoyltransferase ii deficiency10.2
9fatty acid oxidation disorders10.2
103-hydroxyacyl-coa dehydrogenase deficiency10.2
11sudden infant death syndrome10.0

Graphical network of diseases related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



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

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

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48OMIM
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Symptoms by clinical synopsis from OMIM:

201475

Clinical features from OMIM:

201475

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search NIH Clinical Center for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search CenterWatch for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

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21GeneTests, 23GTR
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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 Deficiency21 ACADVL
2 Very Long Chain Acyl-Coa Dehydrogenase Deficiency23

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

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34MalaCards
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MalaCards organs/tissues related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

34
Liver, Heart, Skeletal muscle

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

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

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53PubMed
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Articles related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 11)
idTitleAuthorsYear
1
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
2
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. (17999356)
2007
3
Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. (12893739)
2003
4
Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency. (10700700)
2000
5
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. (10738914)
2000
6
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. (10431122)
1999
7
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency. (9877038)
1998
8
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. (9498103)
1998
9
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. (9709714)
1998
10
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (9546340)
1998
11
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301763)
1993

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

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

65 (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

Clinvar genetic disease variations for Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

1 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1ACADVLACADVL, 105-BP DELundetermined variantPathogenic
2ACADVLACADVL, IVS11, G-A, +1single nucleotide variantPathogenic
3ACADVLNM_000018.3(ACADVL): c.1837C> T (p.Arg613Trp)single nucleotide variantPathogenicrs118204014GRCh37Chr 17, 7128285: 7128285
4ACADVLNM_000018.3(ACADVL): c.343delG (p.Glu115Lysfs)deletionPathogenicrs387906249GRCh37Chr 17, 7124243: 7124243
5ACADVLNM_000018.3(ACADVL): c.343-1delGdeletionPathogenicrs387906250GRCh37Chr 17, 7124242: 7124242
6ACADVLNM_000018.3(ACADVL): c.388_390delGAG (p.Glu130del)deletionPathogenicrs387906251GRCh37Chr 17, 7124288: 7124290
7ACADVLNM_000018.3(ACADVL): c.895_897delAAG (p.Lys299del)deletionPathogenicrs387906252GRCh37Chr 17, 7126002: 7126004
8ACADVLNM_000018.3(ACADVL): c.1144A> C (p.Lys382Gln)single nucleotide variantPathogenicrs118204015GRCh37Chr 17, 7126518: 7126518
9ACADVLNM_000018.3(ACADVL): c.194C> T (p.Pro65Leu)single nucleotide variantBenign, Pathogenicrs28934585GRCh37Chr 17, 7123838: 7123838
10ACADVLNM_000018.3(ACADVL): c.1372T> C (p.Phe458Leu)single nucleotide variantPathogenicrs118204017GRCh37Chr 17, 7127326: 7127326
11ACADVLNM_000018.3(ACADVL): c.1246G> A (p.Ala416Thr)single nucleotide variantPathogenicrs118204018GRCh37Chr 17, 7127026: 7127026
12ACADVLNM_000018.3(ACADVL): c.1349G> A (p.Arg450His)single nucleotide variantPathogenicrs118204016GRCh37Chr 17, 7127303: 7127303
13ACADVLNM_000018.3(ACADVL): c.1226C> T (p.Thr409Met)single nucleotide variantPathogenicrs113994169GRCh37Chr 17, 7127006: 7127006
14ACADVLNM_000018.3(ACADVL): c.1322G> A (p.Gly441Asp)single nucleotide variantPathogenicrs2309689GRCh37Chr 17, 7127184: 7127184
15ACADVLNM_000018.3(ACADVL): c.1405C> T (p.Arg469Trp)single nucleotide variantPathogenicrs113994170GRCh37Chr 17, 7127359: 7127359
16ACADVLNM_000018.3(ACADVL): c.1679-6G> Asingle nucleotide variantPathogenicrs113994171GRCh37Chr 17, 7127955: 7127955
17ACADVLNM_000018.3(ACADVL): c.779C> T (p.Thr260Met)single nucleotide variantPathogenicrs113994168GRCh37Chr 17, 7125522: 7125522
18ACADVLNM_000018.3(ACADVL): c.848T> C (p.Val283Ala)single nucleotide variantPathogenicrs113994167GRCh37Chr 17, 7125591: 7125591
19ACADVLNM_000018.3(ACADVL): c.194C> T (p.Pro65Leu)single nucleotide variantBenign, Pathogenicrs28934585GRCh37Chr 17, 7123838: 7123838

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

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet