Hypogonadotropic hypogonadism 7 with or without anosmia: genes and variants
Hypogonadotropic hypogonadism 7 with or without anosmia is linked to 1 analyzed protein (FGFR1). 3 DNA variants are known to cause it; 0 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 Hypogonadotropic hypogonadism 7 with or without anosmia
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.
3 disease-causing and 0 uncertain variants in FGFR1 are linked to Hypogonadotropic hypogonadism 7 with or without anosmia.
Weakly linked (only a few uncertain records): AXL.
Known disease-causing variants in Hypogonadotropic hypogonadism 7 with or without anosmia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR1 I639T | 639 | Protein kinase | Disease-causing (★★) |
| FGFR1 W737R | 737 | Protein kinase | Disease-causing (★★) |
| FGFR1 Y99C | 99 | Ig-like C2-type 1 | 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 Hypogonadotropic hypogonadism 7 with or without anosmia variants (55 disease-causing).
- Pfeiffer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Hypogonadotropic hypogonadism 7 with or without anosmia variants (18 disease-causing).
- Hartsfield-Bixler-Demyer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Hypogonadotropic hypogonadism 7 with or without anosmia variants (13 disease-causing).
- Jackson-Weiss syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Hypogonadotropic hypogonadism 7 with or without anosmia variants (5 disease-causing).
- Osteoglophonic dysplasia is also caused by FGFR1 variants; they fall mostly in different places as the Hypogonadotropic hypogonadism 7 with or without anosmia variants (5 disease-causing).
Diseases related to Hypogonadotropic hypogonadism 7 with or without anosmia
- 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
- Osteoglophonic dysplasia, also linked to FGFR1
- Renal cell carcinoma, also linked to FGFR1
- Hypogonadotropic hypogonadism, also linked to FGFR1
- Craniosynostosis syndrome, also linked to FGFR1
Frequently asked questions
Which genes are linked to Hypogonadotropic hypogonadism 7 with or without anosmia?
In CATVariant, Hypogonadotropic hypogonadism 7 with or without anosmia is linked to 1 analyzed protein: FGFR1 (Fibroblast growth factor receptor 1).
How many genetic variants are linked to Hypogonadotropic hypogonadism 7 with or without anosmia?
4 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hypogonadotropic hypogonadism 7 with or without anosmia 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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