loading...| Preferred Name |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
| Synonyms |
ACADVLD |
| ID |
http://purl.bioontology.org/ontology/OMIM/201475 |
| altLabel |
ACADVLD VLCAD DEFICIENCY |
| cui |
C3887523 |
| Gene Locus |
17p13 |
| Gene Symbol |
VLCAD ACADVL |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU014708 http://purl.bioontology.org/ontology/OMIM/MTHU014715 http://purl.bioontology.org/ontology/OMIM/MTHU014713 http://purl.bioontology.org/ontology/OMIM/MTHU004170 http://purl.bioontology.org/ontology/OMIM/MTHU010824 http://purl.bioontology.org/ontology/OMIM/MTHU005012 http://purl.bioontology.org/ontology/OMIM/MTHU037226 http://purl.bioontology.org/ontology/OMIM/MTHU002080 http://purl.bioontology.org/ontology/OMIM/MTHU012739 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU037872 http://purl.bioontology.org/ontology/OMIM/MTHU067465 http://purl.bioontology.org/ontology/OMIM/MTHU001656 http://purl.bioontology.org/ontology/OMIM/MTHU014712 http://purl.bioontology.org/ontology/OMIM/MTHU036852 http://purl.bioontology.org/ontology/OMIM/MTHU014716 http://purl.bioontology.org/ontology/OMIM/MTHU014714 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
201460 |
| notation |
201475 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
| Scope Statement |
Severe, early-onset, usually within the first days of life, with cardiomyopathy and early death [MISCELLANEOUS] Milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia [MISCELLANEOUS] Three main clinical forms [MISCELLANEOUS] Mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis [MISCELLANEOUS] Caused by mutation in the very long-chain acyl-CoA dehydrogenase gene (ACAVLD, 609575.0001) [MOLECULAR BASIS] |
| tui |
T047 |