Jackson-Weiss syndrome: genes and variants
Jackson-Weiss syndrome is linked to 3 analyzed proteins (FGFR1, FGFR2 and SOX2). 8 DNA variants are known to cause it; 37 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 Jackson-Weiss syndrome
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 32 uncertain variants in FGFR1 are linked to Jackson-Weiss 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.
3 disease-causing and 5 uncertain variants in FGFR2 are linked to Jackson-Weiss syndrome.
SOX2: Transcription factor SOX-2
It maintains neural and embryonic progenitor identity and directs development of the eye, forebrain, pituitary, and other organs. Haploinsufficiency causes SOX2 disorder, frequently with anophthalmia or microphthalmia and variable neurodevelopmental, endocrine, and genital abnormalities.
0 disease-causing and 0 uncertain variants in SOX2 are linked to Jackson-Weiss syndrome.
Where Jackson-Weiss syndrome variants cluster
- FGFR1 Ig-like C2-type 3 (positions 255–357): 3 of 5 disease-causing changes, 4.8× more than its size predicts.
Known disease-causing variants in Jackson-Weiss syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR1 P252R | 252 | Extracellular | Disease-causing (★★) |
| FGFR1 G270D | 270 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR1 P283R | 283 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 P253R | 253 | Extracellular | Disease-causing (★★) |
| FGFR2 W290C | 290 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR2 C342F | 342 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR1 G301D | 301 | Ig-like C2-type 3 | Disease-causing (★★) |
| FGFR1 M719T | 719 | Protein kinase | 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 Jackson-Weiss syndrome variants (55 disease-causing).
- Pfeiffer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Jackson-Weiss syndrome variants (18 disease-causing).
- Hartsfield-Bixler-Demyer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Jackson-Weiss syndrome variants (13 disease-causing).
- Osteoglophonic dysplasia is also caused by FGFR1 variants; they fall mostly in different places as the Jackson-Weiss syndrome 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 Jackson-Weiss syndrome variants (3 disease-causing).
- FGFR2-related craniosynostosis is also caused by FGFR2 variants; they fall mostly in different places as the Jackson-Weiss syndrome variants (54 disease-causing).
- Crouzon syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Jackson-Weiss syndrome variants (22 disease-causing).
- Pfeiffer syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Jackson-Weiss syndrome variants (13 disease-causing).
- Acrocephalosyndactyly type I is also caused by FGFR2 variants; they fall mostly in different places as the Jackson-Weiss syndrome variants (6 disease-causing).
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis is also caused by FGFR2 variants; they fall partly in the same places as the Jackson-Weiss syndrome variants (5 disease-causing).
Diseases related to Jackson-Weiss syndrome
- Pfeiffer syndrome, also linked to FGFR1 and FGFR2
- Colorectal cancer, also linked to FGFR1 and FGFR2
- Craniosynostosis syndrome, also linked to FGFR1 and FGFR2
- Hypogonadotropic hypogonadism 2 with or without anosmia, also linked to FGFR1
- FGFR2-related craniosynostosis, also linked to FGFR2
- Crouzon syndrome, also linked to FGFR2
- Gastric cancer, also linked to FGFR2
- Non-small cell lung carcinoma, also linked to FGFR1
- Idiopathic pulmonary fibrosis, also linked to FGFR1
- Anophthalmia/microphthalmia-esophageal atresia syndrome, also linked to SOX2
- Hartsfield-Bixler-Demyer syndrome, also linked to FGFR1
- Bilateral sensorineural hearing impairment, also linked to FGFR2
Frequently asked questions
Which genes are linked to Jackson-Weiss syndrome?
In CATVariant, Jackson-Weiss syndrome is linked to 3 analyzed proteins: FGFR1 (Fibroblast growth factor receptor 1), FGFR2 (Fibroblast growth factor receptor 2) and SOX2 (Transcription factor SOX-2).
How many genetic variants are linked to Jackson-Weiss syndrome?
56 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 37 are of uncertain significance or have conflicting reports.
Which uncertain variants in Jackson-Weiss 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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