LADD syndrome: genes and variants
Explore variant evidence for LADD syndrome across 2 analyzed proteins (FGFR2, FGFR3). Linked ClinVar records include 5 pathogenic or likely pathogenic variants, 13 variants of uncertain significance and 4 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to LADD syndrome
FGFR2: Fibroblast growth factor receptor 2
Its fibroblast-growth-factor signaling regulates proliferation, differentiation, and developmental patterning across multiple tissues. Germline activating variants cause several craniosynostosis syndromes, while somatic mutations, amplification, or fusions can drive cancer.
5 ClinVar pathogenic / likely pathogenic and 9 uncertain variants in FGFR2 have source records linked to LADD syndrome. Association strength is not clinical gene validity.
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.
0 ClinVar pathogenic / likely pathogenic and 8 uncertain variants in FGFR3 have source records linked to LADD syndrome. Association strength is not clinical gene validity.
Where LADD syndrome variants cluster
- FGFR2 Protein kinase (positions 481–770): 5 of 5 ClinVar pathogenic / likely pathogenic variants, 2.8× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to LADD syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR2 A648T | 648 | Protein kinase | Pathogenic / likely pathogenic (★★) |
| FGFR2 G493W | 493 | Protein kinase | Pathogenic / likely pathogenic (★) |
| FGFR2 A674V | 674 | Protein kinase | Pathogenic / likely pathogenic (★) |
| FGFR2 A515V | 515 | Protein kinase | Pathogenic / likely pathogenic |
| FGFR2 E534K | 534 | Protein kinase | Pathogenic / likely pathogenic |
Same protein, different disease
- FGFR2-related craniosynostosis also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the LADD syndrome variants (54 pathogenic / likely pathogenic).
- Crouzon disease also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the LADD syndrome variants (22 pathogenic / likely pathogenic).
- Pfeiffer syndrome also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the LADD syndrome variants (13 pathogenic / likely pathogenic).
- Apert syndrome also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the LADD syndrome variants (6 pathogenic / likely pathogenic).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis also has ClinVar records linked to FGFR2 variants; they fall mostly in different places as the LADD syndrome variants (5 pathogenic / likely pathogenic).
Diseases related to LADD syndrome
- Colorectal cancer, also linked to FGFR2 and FGFR3
- Common craniosynostosis syndromes, also linked to FGFR2 and FGFR3
- Craniosynostosis, also linked to FGFR2 and FGFR3
- FGFR2-related craniosynostosis, also linked to FGFR2
- Pfeiffer syndrome, also linked to FGFR2
- Crouzon disease, also linked to FGFR2
- Connective tissue disease, also linked to FGFR3
- FGFR3-related chondrodysplasia, also linked to FGFR3
- Gastric cancer, also linked to FGFR2
- Urinary bladder cancer, also linked to FGFR3
- Hypochondroplasia, also linked to FGFR3
- Colon carcinoma, also linked to FGFR3
Frequently asked questions
Which genes have records linked to LADD syndrome?
This view contains 2 analyzed proteins: FGFR2, FGFR3. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 5 pathogenic or likely pathogenic variants, 13 variants of uncertain significance and 4 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 35 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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