Severe achondroplasia-developmental delay-acanthosis nigricans syndrome: genes and variants
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is linked to 1 analyzed protein (FGFR3). 5 DNA variants are known to cause it; 5 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 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
FGFR3: Fibroblast growth factor receptor 3
It normally restrains growth-plate chondrocyte proliferation while regulating multiple developmental pathways. Activating germline variants cause achondroplasia and related skeletal dysplasias, while somatic activating alterations are common in bladder cancer and some other tumors.
5 disease-causing and 5 uncertain variants in FGFR3 are linked to Severe achondroplasia-developmental delay-acanthosis nigricans syndrome.
Known disease-causing variants in Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR3 R248C | 248 | Extracellular | Disease-causing (★★★★) |
| FGFR3 K650N | 650 | Protein kinase | Disease-causing (★★) |
| FGFR3 G380R | 380 | Transmembrane | Disease-causing (★★) |
| FGFR3 S84L | 84 | Ig-like C2-type 1 | Disease-causing (★★) |
| FGFR3 G370C | 370 | Extracellular | Disease-causing (★★) |
Same protein, different disease
- FGFR3-related chondrodysplasia is also caused by FGFR3 variants; they fall mostly in different places as the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome variants (20 disease-causing).
- Hypochondroplasia is also caused by FGFR3 variants; they fall mostly in different places as the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome variants (15 disease-causing).
- Achondroplasia is also caused by FGFR3 variants; they fall partly in the same places as the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome variants (9 disease-causing).
- Thanatophoric dysplasia is also caused by FGFR3 variants; they fall partly in the same places as the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome variants (8 disease-causing).
- Malignant tumor of urinary bladder is also caused by FGFR3 variants; they fall mostly in different places as the Severe achondroplasia-developmental delay-acanthosis nigricans syndrome variants (3 disease-causing).
Diseases related to Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- Connective tissue disorder, also linked to FGFR3
- Colorectal cancer, also linked to FGFR3
- FGFR3-related chondrodysplasia, also linked to FGFR3
- Malignant tumor of urinary bladder, also linked to FGFR3
- Hypochondroplasia, also linked to FGFR3
- Carcinoma of colon, also linked to FGFR3
- Achondroplasia, also linked to FGFR3
- Thanatophoric dysplasia, also linked to FGFR3
- Common craniosynostosis syndromes, also linked to FGFR3
- Levy-Hollister syndrome, also linked to FGFR3
- Renal cell carcinoma, also linked to FGFR3
- Craniosynostosis syndrome, also linked to FGFR3
Frequently asked questions
Which genes are linked to Severe achondroplasia-developmental delay-acanthosis nigricans syndrome?
In CATVariant, Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is linked to 1 analyzed protein: FGFR3 (Fibroblast growth factor receptor 3).
How many genetic variants are linked to Severe achondroplasia-developmental delay-acanthosis nigricans syndrome?
14 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.
Which uncertain variants in Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 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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