Very Long Chain Acyl-CoA Dehydrogenase Deficiency(VLCAD Deficiency) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Metabolic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | ACADVL/37 | acyl-CoA dehydrogenase very long chain | 17p13.1 | Chr17, NC_000017.11 (7217125..7225266) |
8142 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | ACADL/33 | acyl-CoA dehydrogenase long chain | 2q34 | Chr2, NC_000002.12 (210187923..210225447, complement) |
37525 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
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Clinical Symptoms & Disabilities