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 |
|---|---|---|---|
| RS200902176 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS202218503 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100363487 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100365770 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100365813 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100365971 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100370448 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100407767 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100417476 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2100453287 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525572504 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525572808 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525573834 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525573866 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525574078 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525578148 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525578274 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525578687 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525586702 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525609038 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525609231 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525635575 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525636128 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525647407 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525648243 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525652568 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525698694 | Health Risk | Likely pathogenic | ACADM-related disorder, ACADM-related disorder |
| RS2525698838 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699215 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699516 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699762 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699882 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525699893 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525706798 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS2525706932 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS751163688 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS754219595 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS757198475 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS766173642 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS766249735 | Health Risk | Likely 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 |
| RS766727876 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS770408876 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS772586266 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS774531501 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS794727694 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS879234543 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS983879715 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS988752772 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057516278 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057516778 | Health Risk | Pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |