Long chain acyl-CoA dehydrogenase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LCAD |
| Number of Symptoms | 1 |
| OrphanetNr: | 99900 |
| OMIM Id: |
|
| ICD-10: |
E71.3 |
| UMLs: |
C0220711 |
| MeSH: |
C535690 |
| MedDRA: |
|
| Snomed: |
237996001 |
Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases - PMID: 24591516 [IBIS] |
| Inheritance: |
|
| Age of onset: |
Infancy - PMID: 24591516 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
-Rare cardiac disease -Rare genetic disease Metabolic disease due to other fatty acid oxidation disorder -Rare genetic disease |
Comment:
| The study evaluated post-mortem lung tissue from a small cohort of infants who suffered sudden unexplained deaths. Two of these cases had no detectable LCAD (ACADL) antigen. Sequencing revealed them both to be homozygous for a common single nucleotide polymorphism (rs2286963) resulting in an amino acid substitution (K333Q) (PMID:24591516). |
Symptom Information:
|
|
(HPO:0001522) | Death in infancy | 24591516 | IBIS | 275 / 7739 |
Associated genes:
| ACADL; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| ACADVL | rs113994167 | pathogenic | RCV000020081.2 |
| ACADVL | rs113994169 | pathogenic | RCV000020069.1 |
| ACADVL | rs118204015 | pathogenic | RCV000001695.2 |
| ACADVL | rs118204017 | pathogenic | RCV000001699.2 |
| ACADVL | rs118204018 | pathogenic | RCV000001700.2 |
| ACADVL | rs140629318 | pathogenic | RCV000180089.1 |
| ACADVL | rs148584617 | likely pathogenic | RCV000193309.1 |
| ACADVL | rs2309689 | pathogenic | RCV000020072.2 |
| ACADVL | rs369560930 | pathogenic | RCV000179696.1 |
| ACADVL | rs387906253 | pathogenic | RCV000001698.2 |
| ACADVL | rs398123080 | likely pathogenic | RCV000173951.1 |
| ACADVL | rs398123082 | pathogenic | RCV000174651.1 |
| ACADVL | rs398123091 | likely pathogenic | RCV000169301.1 |
| ACADVL | rs398123092 | pathogenic | RCV000180449.1 |
| ACADVL | rs727503788 | pathogenic | RCV000175507.1 |
| ACADVL | rs727503794 | pathogenic | RCV000152740.3 |
| ACADVL | rs753108198 | likely pathogenic | RCV000169392.1 |
| ACADVL | rs786204536 | likely pathogenic | RCV000169238.1 |
| ACADVL | rs786204738 | likely pathogenic | RCV000169585.1 |
| ACADVL | rs794727113 | pathogenic | RCV000174654.1 |