OPDM5_ABCD3
- Gene
- ABCD3
- Disease
- OPDM5
- Inheritance
- AD
- Classification
- Moderate
- Total Score
- 10
- Publications Reviewed
- 1
- Publication Span
- Last Updated
- 04/29/2026
- Curator(s)
- Laurel Hiatt, Macayla Weiner, Harriet Dashnow
Description
A heterozygous CGG repeat expansion in the 5' region of ABCD3 was identified as the cause of autosomal dominant oculopharyngodistal myopathy type 5 (OPDM5) in eight unrelated families, with segregation supported by a LOD score of 2.98. Repeat size correlates inversely with age at onset, supporting a length-dependent pathogenic effect. Increased ABCD3 expression was seen in patient fibroblasts and skeletal muscle. To date only one publication has reported this gene-disease relationship.
Genetic evidence
Total: 8.5
| Singular Evidence | Probands | PMID:39068203 | 6 | 24 affected individuals from 8 unrelated families with characterization including 2 large families with functional evidence. |
| Collective Evidence | Allele | PMID:39068203 | 1 | Negative correlation between repeat expansion size and age-of-onset in affected males (y = 3.029x + 272.8, n = 6, p = 0.0063) |
| Collective Evidence | Segregation | PMID:39068203 | 1.5 | Combined linkage analysis using whole exome sequencing for two families AUS1 (n = 5 affected individuals) and AUS2 (n = 4 affected individuals), LOD score = 2.98. Individuals carrying the ABCD3 CCG repeat expansion share an ancestral haplotype. |
3 rows
Experimental evidence
Total: 1.5
| Function | Regulatory impact | PMID:39068203 | 0.5 | Increased expression of ABCD3 in patient skeletal muscle compared with controls. |
| Functional Alteration | Patient cells | PMID:39068203 | 1 | Staining of primary fibroblasts generated from skin biopsy of AUS3-IV:3 showed p62-positive intranuclear inclusions. |
2 rows
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.