Details of Disease | DrugMAP

General Information of Disease (ID: DISB7TEQ)

Disease Name	Very long chain acyl-CoA dehydrogenase deficiency
Synonyms	ACADVLD; acyl-CoA dehydrogenase, very long-chain, deficiency OF; acyl-CoA dehydrogenase, very long-chain deficiency; VLCAD; VLCAD deficiency; very long-chain acyl-Coenzyme A dehydrogenase deficiency; Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD); very long-chain acyl-CoA dehydrogenase deficiency; VLCADD; very long chain acyl-CoA dehydrogenase deficiency
Definition	An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.
Disease Hierarchy	DISYKSRF: Genetic disease DISA6JBV: Disorder of fatty acid oxidation and ketogenesis DISQ89HN: Familial hypertrophic cardiomyopathy DISB7TEQ: Very long chain acyl-CoA dehydrogenase deficiency
Disease Identifiers	MONDO ID MONDO_0008723 MESH ID C536353 UMLS CUI C3887523 OMIM ID 201475 MedGen ID 854382 Orphanet ID 26793 SNOMED CT ID 237997005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CPT1B	TTDL0NY	Limited	Genetic Variation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TGM5	DEW8QEH	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADL	OTP7Y0UF	Strong	Biomarker	[3]
CPT1A	OTI862QH	Strong	Genetic Variation	[1]
LPIN1	OTQ75KF2	Strong	Altered Expression	[4]
ACADVL	OT50L4XB	Definitive	Autosomal recessive	[5]
------------------------------------------------------------------------------------

References

1	Follow-up of fatty acid -oxidation disorders in expanded newborn screening era.Eur J Pediatr. 2019 Mar;178(3):387-394. doi: 10.1007/s00431-018-03315-2. Epub 2019 Jan 7.
2	Exome-based search for recurrent disease-causing alleles in Russian population.Eur J Med Genet. 2019 Jul;62(7):103656. doi: 10.1016/j.ejmg.2019.04.013. Epub 2019 Apr 24.
3	Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum Mol Genet. 2001 Sep 15;10(19):2069-77. doi: 10.1093/hmg/10.19.2069.
4	Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.Biochim Biophys Acta. 2013 Dec;1832(12):2103-14. doi: 10.1016/j.bbadis.2013.07.021. Epub 2013 Aug 6.
5	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.