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 |
|---|---|---|---|
| RS758476299 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS758753966 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS759158371 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS760335676 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS762114560 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS765793260 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS766140986 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS767649048 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS768884003 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS769331400 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS769906625 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS770273135 | Health Risk | Pathogenic/Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 2 |
| RS771978135 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS772061007 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS772650083 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS773677327 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS776498263 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS779759347 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS780737237 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS866388216 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder, MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing newborn screening follow up |
| RS875989859 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989860 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989865 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989876 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS941714381 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS992092720 | Health Risk | Pathogenic/Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |