ACADVL - Gene browser

ACADVL

acyl-CoA dehydrogenase very long chain

HCNC Approved Symbol: ACADVL (HGNC:92)
Genomic Coordinates: 17:7,217,125 - 7,225,266 (17p13.1)
Synonyms: VLCAD, LCACD, ACAD6
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

7Patients

In total, 7 patients were diagnosed with a variant in the ACADVL gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

07
Patient count

Elevated creatine kinase: 3 (42.9%)
Patient Count: 3 (42.9%)
% of total patients presenting each phenotype is shown in parentheses.
3 (42.9%)
Elevated long chain fatty acids: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Brain atrophy: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Hypoglycemia: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Seizures: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)