Camptomelic dysplasia: genes and variants
Camptomelic dysplasia is linked to 1 analyzed protein (SOX9). 26 DNA variants are known to cause it; 117 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Camptomelic dysplasia
SOX9: Transcription factor SOX-9
It controls chondrocyte differentiation, cartilage formation, and testis development and also regulates multiple organ-specific developmental programs. Haploinsufficiency causes campomelic dysplasia, often with severe skeletal abnormalities and 46,XY sex reversal.
26 disease-causing and 117 uncertain variants in SOX9 are linked to Camptomelic dysplasia.
Where Camptomelic dysplasia variants cluster
- SOX9 HMG box (positions 105–173): 22 of 26 disease-causing changes, 6.2× more than its size predicts.
Known disease-causing variants in Camptomelic dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SOX9 M113V | 113 | HMG box | Disease-causing (★★) |
| SOX9 P170R | 170 | HMG box | Disease-causing (★★) |
| SOX9 P170A | 170 | HMG box | Disease-causing (★★) |
| SOX9 P170S | 170 | HMG box | Disease-causing (★★) |
| SOX9 P176R | 176 | Disease-causing (★★) | |
| SOX9 P170T | 170 | HMG box | Disease-causing (★★) |
| SOX9 A158V | 158 | HMG box | Disease-causing (★★) |
| SOX9 R152P | 152 | HMG box | Disease-causing (★★) |
| SOX9 M113L | 113 | HMG box | Disease-causing (★) |
| SOX9 M113I | 113 | HMG box | Disease-causing (★) |
| SOX9 Y172C | 172 | HMG box | Disease-causing (★) |
| SOX9 Y172F | 172 | HMG box | Disease-causing (★) |
| SOX9 P176L | 176 | Disease-causing (★) | |
| SOX9 M113T | 113 | HMG box | Disease-causing (★) |
| SOX9 G140D | 140 | HMG box | Disease-causing (★) |
| SOX9 A158T | 158 | HMG box | Disease-causing (★) |
| SOX9 K173E | 173 | HMG box | Disease-causing (★) |
| SOX9 K166N | 166 | HMG box | Disease-causing (★) |
| SOX9 H169P | 169 | HMG box | Disease-causing (★) |
| SOX9 I73T | 73 | Dimerization (DIM) | Disease-causing (★) |
| SOX9 V105F | 105 | HMG box | Disease-causing (★) |
| SOX9 M109T | 109 | HMG box | Disease-causing (★) |
| SOX9 N132I | 132 | HMG box | Disease-causing (★) |
| SOX9 F154L | 154 | HMG box | Disease-causing |
| SOX9 Q164P | 164 | HMG box | Disease-causing |
| SOX9 M476T | 476 | Transactivation domain (TAC) | Disease-causing |
Uncertain variants in Camptomelic dysplasia that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SOX9 H169Q | 169 | HMG box | Conflicting reports (★) | +6: 8 other pathogenic changes within 3 positions; H169P at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 1.00 |
Which prediction tools work for Camptomelic dysplasia
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 97 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- MetaLR: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 80 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 80 out of 100
Diseases related to Camptomelic dysplasia
- Connective tissue disorder, also linked to SOX9
- Fetal anomalies with a likely genetic cause, also linked to SOX9
Frequently asked questions
Which genes are linked to Camptomelic dysplasia?
In CATVariant, Camptomelic dysplasia is linked to 1 analyzed protein: SOX9 (Transcription factor SOX-9).
How many genetic variants are linked to Camptomelic dysplasia?
169 variants: 26 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 117 are of uncertain significance or have conflicting reports.
Which uncertain variants in Camptomelic dysplasia look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example SOX9 H169Q. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Camptomelic dysplasia?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.80, based on 21 disease-causing and 29 harmless variants).
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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