Osteoglophonic dysplasia: genes and variants
Osteoglophonic dysplasia is linked to 1 analyzed protein (FGFR1). 5 DNA variants are known to cause it; 18 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 Osteoglophonic dysplasia
FGFR1: Fibroblast growth factor receptor 1
Its fibroblast-growth-factor signaling controls proliferation, differentiation, migration, and developmental patterning in many tissues. Germline pathogenic variants can cause hypogonadotropic hypogonadism or craniosynostosis syndromes, while fusions and other activating alterations drive selected cancers.
5 disease-causing and 18 uncertain variants in FGFR1 are linked to Osteoglophonic dysplasia.
Where Osteoglophonic dysplasia variants cluster
- FGFR1 Extracellular (positions 22–376): 4 of 5 disease-causing changes, 1.9× more than its size predicts.
Known disease-causing variants in Osteoglophonic dysplasia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR1 G237D | 237 | Ig-like C2-type 2 | Disease-causing (★★) |
| FGFR1 P306L | 306 | Ig-like C2-type 3 | Disease-causing (★) |
| FGFR1 G490V | 490 | Protein kinase | Disease-causing (★) |
| FGFR1 N330I | 330 | Ig-like C2-type 3 | Disease-causing |
| FGFR1 Y374C | 374 | Extracellular | Disease-causing |
Same protein, different disease
- Hypogonadotropic hypogonadism 2 with or without anosmia is also caused by FGFR1 variants; they fall mostly in different places as the Osteoglophonic dysplasia variants (55 disease-causing).
- Pfeiffer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Osteoglophonic dysplasia variants (18 disease-causing).
- Hartsfield-Bixler-Demyer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Osteoglophonic dysplasia variants (13 disease-causing).
- Jackson-Weiss syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Osteoglophonic dysplasia variants (5 disease-causing).
- Hypogonadotropic hypogonadism 7 with or without anosmia is also caused by FGFR1 variants; they fall mostly in different places as the Osteoglophonic dysplasia variants (3 disease-causing).
Diseases related to Osteoglophonic dysplasia
- Hypogonadotropic hypogonadism 2 with or without anosmia, also linked to FGFR1
- Pfeiffer syndrome, also linked to FGFR1
- Colorectal cancer, also linked to FGFR1
- Non-small cell lung carcinoma, also linked to FGFR1
- Idiopathic pulmonary fibrosis, also linked to FGFR1
- Hartsfield-Bixler-Demyer syndrome, also linked to FGFR1
- Jackson-Weiss syndrome, also linked to FGFR1
- Encephalocraniocutaneous lipomatosis, also linked to FGFR1
- Renal cell carcinoma, also linked to FGFR1
- Hypogonadotropic hypogonadism, also linked to FGFR1
- Craniosynostosis syndrome, also linked to FGFR1
- Interstitial lung disease, also linked to FGFR1
Frequently asked questions
Which genes are linked to Osteoglophonic dysplasia?
In CATVariant, Osteoglophonic dysplasia is linked to 1 analyzed protein: FGFR1 (Fibroblast growth factor receptor 1).
How many genetic variants are linked to Osteoglophonic dysplasia?
25 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 18 are of uncertain significance or have conflicting reports.
Which uncertain variants in Osteoglophonic dysplasia 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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