long chain acyl-CoA dehydrogenase deficiency
diseaseOn this page
Also known as ACADL deficiencyacyl-CoA dehydrogenase, long-chain deficiencyinborn error of long-chain-acyl-CoA dehydrogenase activityinborn long-chain-acyl-CoA dehydrogenase activity disorderLCADLCAD deficiencylong-chain acyl-CoA dehydrogenase deficiencylong-chain acyl-Coenzyme A dehydrogenase deficiencyrare inborn error of long-chain-acyl-CoA dehydrogenase activity
Summary
long chain acyl-CoA dehydrogenase deficiency (MONDO:0020531) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 4
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | long chain acyl-CoA dehydrogenase deficiency |
| Mondo ID | MONDO:0020531 |
| MeSH | C535690 |
| Orphanet | 99900 |
| ICD-11 | 692829041 |
| NCIT | C84537 |
| SNOMED CT | 237996001 |
| UMLS | C0220711 |
| MedGen | 65087 |
| GARD | 0009700 |
| Is cancer (heuristic) | no |
Also known as: ACADL deficiency · acyl-CoA dehydrogenase, long-chain deficiency · inborn error of long-chain-acyl-CoA dehydrogenase activity · inborn long-chain-acyl-CoA dehydrogenase activity disorder · LCAD · LCAD deficiency · long chain acyl-CoA dehydrogenase deficiency · long-chain acyl-CoA dehydrogenase deficiency · long-chain acyl-Coenzyme A dehydrogenase deficiency · rare inborn error of long-chain-acyl-CoA dehydrogenase activity
Data availability: 4 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of energy metabolism › disorder of fatty acid and ketone body metabolism › disorder of fatty acid oxidation and ketogenesis › long chain acyl-CoA dehydrogenase deficiency
Related subtypes (9): very long chain acyl-CoA dehydrogenase deficiency, carnitine-acylcarnitine translocase deficiency, systemic primary carnitine deficiency disease, 3-hydroxy-3-methylglutaric aciduria, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, acyl-CoA dehydrogenase 9 deficiency, acyl-CoA dehydrogenase deficiency, 3-hydroxyacyl-CoA dehydrogenase deficiency
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
4 retrieved; paginated sample, class counts are floors:
3 conflicting classifications of pathogenicity, 1 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 439352 | NM_001608.4(ACADL):c.932G>T (p.Arg311Met) | ACADL | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 593544 | NM_001608.4(ACADL):c.722G>C (p.Gly241Ala) | ACADL | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 973447 | NM_001608.4(ACADL):c.799C>T (p.Arg267Trp) | ACADL | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 3778929 | NM_001608.4(ACADL):c.935_936insTGTTATGTTTAA (p.Asn312_Tyr313insValMetPheAsn) | ACADL | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| ACADL | HGNC:88 | ENSG00000115361 | P28330 | Long-chain specific acyl-CoA dehydrogenase, mitochondrial | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ACADL | Long-chain specific acyl-CoA dehydrogenase, mitochondrial | Long-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation (FAO), breaking down fatty acids into acetyl-CoA and allowing the production of energy… |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| ACADL | Other/Unknown | no | Acyl-CoA_DH_CS, AcylCoA_DH/ox_M, AcylCo_DH/oxidase_C |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| body of pancreas | 1 |
| popliteal artery | 1 |
| tibial artery | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ACADL | 208 | broad | marker | body of pancreas, popliteal artery, tibial artery |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ACADL | 2,251 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ACADL | P28330 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 8. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Beta oxidation of myristoyl-CoA to lauroyl-CoA | 1 | 3806.7× | 0.001 | ACADL |
| Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA | 1 | 2284.0× | 0.001 | ACADL |
| mitochondrial fatty acid beta-oxidation of unsaturated fatty acids | 1 | 1903.3× | 0.001 | ACADL |
| mitochondrial fatty acid beta-oxidation of saturated fatty acids | 1 | 1631.4× | 0.001 | ACADL |
| Mitochondrial Fatty Acid Beta-Oxidation | 1 | 380.7× | 0.004 | ACADL |
| Fatty acid metabolism | 1 | 131.3× | 0.010 | ACADL |
| Metabolism of lipids | 1 | 31.6× | 0.036 | ACADL |
| Metabolism | 1 | 11.6× | 0.086 | ACADL |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| carnitine catabolic process | 1 | 16852.0× | 6e-04 | ACADL |
| carnitine metabolic process, CoA-linked | 1 | 5617.3× | 9e-04 | ACADL |
| long-chain fatty acid catabolic process | 1 | 2808.7× | 0.001 | ACADL |
| negative regulation of fatty acid oxidation | 1 | 1685.2× | 0.001 | ACADL |
| fatty acid beta-oxidation using acyl-CoA dehydrogenase | 1 | 1404.3× | 0.001 | ACADL |
| regulation of cholesterol metabolic process | 1 | 1123.5× | 0.001 | ACADL |
| negative regulation of fatty acid biosynthetic process | 1 | 887.0× | 0.002 | ACADL |
| temperature homeostasis | 1 | 648.1× | 0.002 | ACADL |
| lipid catabolic process | 1 | 244.2× | 0.005 | ACADL |
| positive regulation of cold-induced thermogenesis | 1 | 163.6× | 0.006 | ACADL |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| ACADL | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | ACADL |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| ACADL | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: ACADL