MCID: VRY001
MIFTS: 16

Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

Genetic diseases (common), Immune diseases, Endocrine diseases categories

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

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Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 19 20
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 19
 
Pearson's Marrow-Pancreas Syndrome 60
Vlcad Deficiency 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases, Endocrine diseases


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

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MalaCards based summary: Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as very long-chain acyl-coa dehydrogenase deficiency, is related to vlcad deficiency and hypertrophic cardiomyopathy. An important gene associated with Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADVL (acyl-CoA dehydrogenase, very long chain). Affiliated tissues include pancreas.

GeneReviews summary for vlcad

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

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Diseases related to Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1vlcad deficiency10.7
2hypertrophic cardiomyopathy10.6
3dysferlinopathy10.6
4myopathy10.6
5respiratory failure10.6
6lcad deficiency10.6
7dilated cardiomyopathy10.2

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

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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

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

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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

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

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

31
Pancreas

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

(show all 22)
idTitleAuthorsYear
1
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis. (25652019)
2015
2
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency. (25655073)
2015
3
Anesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature review. (25069536)
2014
4
Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency. (24765510)
2013
5
Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency. (22847608)
2012
6
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family. (22097235)
2011
7
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
8
Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. (12893739)
2003
9
Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency. (11882234)
2002
10
Death caused by perioperative fasting and sedation in a child with unrecognized very long chain acyl-coenzyme A dehydrogenase deficiency. (10700700)
2000
11
Very-long-chain acyl-coenzyme A dehydrogenase deficiency--a new cause of myoglobinuric acute renal failure. (10910451)
2000
12
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. (10738914)
2000
13
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. (10431122)
1999
14
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency. (9877038)
1998
15
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. (9565984)
1998
16
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. (9498103)
1998
17
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. (9709714)
1998
18
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. (9546340)
1998
19
Very long chain acyl-coenzyme A dehydrogenase deficiency in two siblings: evolution after prenatal diagnosis and prompt management. (9329424)
1997
20
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency. (9164788)
1997
21
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. (8145917)
1994
22
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301763)
1993

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

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

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

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

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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
  • Proteins
  • Kits and Assays

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet