ACADM Chromosome 1
Acyl-CoA dehydrogenase medium chain
Upload your DNA to see your personal genotypes for variants in ACADM.
What This Gene Does
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Acyl-CoA dehydrogenase family|Flavoproteins"
Locus Type
gene with protein product
Location
1p31.1
Ensembl
ENSG00000117054
Associated Conditions (13)
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Inborn genetic diseases
ACADM-related disorder
See cases
Ovarian serous cystadenocarcinoma
Lung cancer
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up
Glioma susceptibility 1
Epileptic spasm
Deficiency of butyryl-CoA dehydrogenase
Hydrocephalus
nonsyndromic
autosomal recessive 2
Key Variants
RS1022879056
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1057516564
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS1057520215
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1212443202
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1293309607
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1331587978
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1337929727
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1348176225
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS138098371
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS139457557
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS1462472677
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
Health Risk
RS147559466
Conflicting classifications of pathogenicity
Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases, ACADM-related disorder
Health Risk
All Variants (326)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2525574376 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525578020 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525608577 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525608929 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525609308 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Glioma susceptibility 1, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525636733 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525648201 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525652620 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525652858 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525698959 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525698997 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699415 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699682 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699778 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699808 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525706560 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525706737 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525706749 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123072 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123073 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS398123074 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS745793409 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS745844469 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS748110745 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS749529577 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS757004090 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS761317029 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS761334406 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS768596219 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS777998984 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS778906552 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS77931234 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Epileptic spasm, See cases |
| RS780504551 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS786204566 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS786204631 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS786204642 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS796051896 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS796051901 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS864621963 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989854 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989864 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989867 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989869 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989872 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989873 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989875 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989877 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS878853106 | Health Risk | Pathogenic | — |
| RS886042087 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057516480 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |