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 |
|---|---|---|---|
| RS786204424 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989857 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989861 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Ovarian serous cystadenocarcinoma, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS875989863 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS886042056 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS886042084 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS886046523 | Health Risk | Conflicting classifications of pathogenicity | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057516463 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057516983 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency, Lung cancer |
| RS1057517179 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057517411 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057518408 | Health Risk | Likely pathogenic | — |
| RS1057518677 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057520214 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1057521114 | Health Risk | Likely pathogenic | — |
| RS111347361 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS113887538 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1199770829 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1213827359 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS121434275 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS121434279 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1215335509 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1236179603 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1260394550 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1312183934 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1349638092 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1424560976 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1448376709 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1455996178 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1553122996 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1553123857 | 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 |
| RS1553124803 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1553124805 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1553125211 | 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 |
| RS1553125264 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1553127378 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1557446524 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1557458593 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1557466604 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1557467049 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1570863351 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1570891615 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1647165465 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1647169738 | 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 |
| RS1647169888 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1647187648 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1647187729 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1647188699 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1647485086 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |
| RS1648137997 | Health Risk | Likely pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency |