Details of Disease

General Information of Disease (ID: DISDDRPY)

• Disease Name: Short chain acyl-CoA dehydrogenase deficiency
• Synonyms: acyl-CoA dehydrogenase, short-chain, deficiency OF; ACADSD; short-chain acyl-coenzyme A dehydrogenase deficiency; Acads deficiency; Scadh deficiency; short-chain acyl-CoA dehydrogenase deficiency; Scad deficiency; lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency; SCAD deficiency; acyl-CoA dehydrogenase, short-chain deficiency; Short Chain Acyl CoA Dehydrogenase Deficiency; short chain acyl-CoA dehydrogenase deficiency; SCADD; short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD); short-chain acyl-CoA dehydrogenase deficiency (SCAD); SCAD; ACADS deficiency
• Definition: Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
• Disease Hierarchy:
  DISU6BE1: Acyl-CoA dehydrogenase deficiency
  DISYKSRF: Genetic disease
  DISDDRPY: Short chain acyl-CoA dehydrogenase deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008722
  MESH ID: C537596
  UMLS CUI: C0342783
  OMIM ID: 201470
  MedGen ID: 90998
  Orphanet ID: 26792
  SNOMED CT ID: 124166007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TLN1	TTQSMFG	Strong	Genetic Variation	[1]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACADSB	OTDO6HBG	Limited	Biomarker	[2]
AUH	OT8VKBXX	Limited	Biomarker	[2]
AK4	OTA0T02Q	Strong	Biomarker	[3]
ACADS	OTGFANYQ	Definitive	Autosomal recessive	[4]
SERPINA5	OTTZXPGD	Definitive	Biomarker	[5]

References

• [1] Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection.Circ Genom Precis Med. 2019 Apr;12(4):e002437. doi: 10.1161/CIRCGEN.118.002437. Epub 2019 Mar 19.
• [2] Genotype-based databases for variants causing rare diseases.Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
• [3] Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.Mol Genet Metab. 2014 Mar;111(3):360-368. doi: 10.1016/j.ymgme.2014.01.007. Epub 2014 Jan 24.
• [4] 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.
• [5] Development of a risk score for predicting the benefit versus harm of extending dual antiplatelet therapy beyond 6 months following percutaneous coronary intervention for stable coronary artery disease.PLoS One. 2019 Feb 14;14(2):e0209661. doi: 10.1371/journal.pone.0209661. eCollection 2019.