Acyl-CoA dehydrogenase 9 deficiency: genes and variants

Genes linked to Acyl-CoA dehydrogenase 9 deficiency

• ACAD9: Complex I assembly factor ACAD9, mitochondrial

  It supports mitochondrial energy production through long-chain fatty-acid oxidation and also functions as an assembly factor for respiratory-chain complex I. Biallelic pathogenic variants can cause complex I deficiency, cardiomyopathy, exercise intolerance, and other mitochondrial disease manifestations.

  24 disease-causing and 68 uncertain variants in ACAD9 are linked to Acyl-CoA dehydrogenase 9 deficiency.

Known disease-causing variants in Acyl-CoA dehydrogenase 9 deficiency

Which prediction tools work for Acyl-CoA dehydrogenase 9 deficiency

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• CADD: 94 out of 100
• SIFT: 92 out of 100
• CATVariant: 90 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• REVEL: 89 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• PolyPhen-2: 80 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• phyloP: 80 out of 100

Same protein, different disease

• Mitochondrial complex I deficiency is also caused by ACAD9 variants; they fall mostly in different places as the Acyl-CoA dehydrogenase 9 deficiency variants (9 disease-causing).

Diseases related to Acyl-CoA dehydrogenase 9 deficiency

• Hypertrophic cardiomyopathy, also linked to ACAD9
• Mitochondrial complex I deficiency, also linked to ACAD9
• Possible mitochondrial disorder - nuclear genes, also linked to ACAD9

Frequently asked questions

Which genes are linked to Acyl-CoA dehydrogenase 9 deficiency?

In CATVariant, Acyl-CoA dehydrogenase 9 deficiency is linked to 1 analyzed protein: ACAD9 (Complex I assembly factor ACAD9, mitochondrial).

How many genetic variants are linked to Acyl-CoA dehydrogenase 9 deficiency?

129 variants: 24 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 68 are of uncertain significance or have conflicting reports.

Which uncertain variants in Acyl-CoA dehydrogenase 9 deficiency look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

Which variant effect predictor works best for Acyl-CoA dehydrogenase 9 deficiency?

Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.94, based on 18 disease-causing and 11 harmless variants).

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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