Spondyloepimetaphyseal dysplasia, aggrecan type: genes and variants
Spondyloepimetaphyseal dysplasia, aggrecan type is linked to 1 analyzed protein (ACAN). 3 DNA variants are known to cause it; 12 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Spondyloepimetaphyseal dysplasia, aggrecan type
ACAN: Aggrecan core protein
Its highly charged glycosaminoglycan-rich structure enables cartilage to retain water and resist compressive forces, making it essential for growth-plate and articular-cartilage mechanics. Pathogenic variants can cause short-stature and skeletal-dysplasia phenotypes, including spondyloepimetaphyseal dysplasia and familial osteochondritis dissecans.
3 disease-causing and 12 uncertain variants in ACAN are linked to Spondyloepimetaphyseal dysplasia, aggrecan type.
Known disease-causing variants in Spondyloepimetaphyseal dysplasia, aggrecan type
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACAN D2381N | 2381 | C-type lectin | Disease-causing (★★) |
| ACAN S1687R | 1687 | CS-2 | Disease-causing |
| ACAN V1380F | 1380 | 2-24 | Disease-causing |
Same protein, different disease
- Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans is also caused by ACAN variants; they fall mostly in different places as the Spondyloepimetaphyseal dysplasia, aggrecan type variants (4 disease-causing).
Diseases related to Spondyloepimetaphyseal dysplasia, aggrecan type
- Monogenic short statue, also linked to ACAN
- Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, also linked to ACAN
Frequently asked questions
Which genes are linked to Spondyloepimetaphyseal dysplasia, aggrecan type?
In CATVariant, Spondyloepimetaphyseal dysplasia, aggrecan type is linked to 1 analyzed protein: ACAN (Aggrecan core protein).
How many genetic variants are linked to Spondyloepimetaphyseal dysplasia, aggrecan type?
34 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in Spondyloepimetaphyseal dysplasia, aggrecan type look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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