Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans: genes and variants
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans is linked to 1 analyzed protein (ACAN). 4 DNA variants are known to cause it; 14 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 Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
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.
4 disease-causing and 14 uncertain variants in ACAN are linked to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.
Known disease-causing variants in Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACAN D2381N | 2381 | C-type lectin | Disease-causing (★★) |
| ACAN L302P | 302 | Link 2 | Disease-causing (★) |
| ACAN V2417M | 2417 | C-type lectin | Disease-causing (★) |
| ACAN L2355P | 2355 | C-type lectin | Disease-causing |
Diseases related to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- Monogenic short statue, also linked to ACAN
- Spondyloepimetaphyseal dysplasia, aggrecan type, also linked to ACAN
Frequently asked questions
Which genes are linked to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans?
In CATVariant, Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans is linked to 1 analyzed protein: ACAN (Aggrecan core protein).
How many genetic variants are linked to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans?
28 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 14 are of uncertain significance or have conflicting reports.
Which uncertain variants in Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 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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