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ACADM

Synonyms
ACAD1, MCAD, MCADH
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
30
Likely pathogenic
83
VUS
1,421
Likely benign
180
Benign
34

Patient phenotypes

Proportions of phenotypes among 111 patients carring pathogenic or likely pathogenic variants on ACADM gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.1%
Abnormality of the cardiovascular system
23.4%
Abnormality of the musculoskeletal system
19.8%
Abnormality of head or neck
14.4%
Abnormality of the eye
14.4%
Abnormality of the genitourinary system
11.7%
Abnormality of the ear
9.9%
Growth abnormality
9.9%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of prenatal development or birth
5.4%
Abnormality of the immune system
5.4%
Abnormality of the integument
5.4%
Abnormality of limbs
2.7%
Abnormality of the digestive system
2.7%
Neoplasm
2.7%
Abnormal cellular phenotype
1.8%
Abnormality of the endocrine system
0.9%
Abnormality of the respiratory system
0.9%
Constitutional symptom
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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