Familial multiple nevi flammei: genes and variants
Familial multiple nevi flammei is linked to 2 analyzed proteins (GNAQ and GNA11). 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 Familial multiple nevi flammei
GNAQ: Guanine nucleotide-binding protein G(q) subunit alpha
It links Gq-coupled receptors to phospholipase C signaling and intracellular calcium release. Somatic activating variants are major drivers of uveal melanoma and Sturge-Weber-associated vascular malformations, depending on the developmental timing and cell type affected.
2 disease-causing and 0 uncertain variants in GNAQ are linked to Familial multiple nevi flammei.
GNA11: Guanine nucleotide-binding protein subunit alpha-11
It transmits signals from Gq-coupled receptors to phospholipase C and downstream calcium and protein-kinase-C pathways. Germline activating variants can cause autosomal dominant hypocalcemia, while somatic activating variants drive uveal melanoma and some vascular lesions.
1 disease-causing and 0 uncertain variants in GNA11 are linked to Familial multiple nevi flammei.
Known disease-causing variants in Familial multiple nevi flammei
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| GNAQ Q209H | 209 | G-alpha | Disease-causing (★★) |
| GNA11 R183H | 183 | G-alpha | Disease-causing (★) |
| GNAQ R183G | 183 | G-alpha | Disease-causing (★) |
Same protein, different disease
- Autosomal dominant hypocalcemia is also caused by GNA11 variants; they fall mostly in different places as the Familial multiple nevi flammei variants (6 disease-causing).
- Familial hypocalciuric hypercalcemia is also caused by GNA11 variants; they fall mostly in different places as the Familial multiple nevi flammei variants (4 disease-causing).
Diseases related to Familial multiple nevi flammei
- Familial hypocalciuric hypercalcemia, also linked to GNA11
- Autosomal dominant hypocalcemia, also linked to GNA11
- Vascular malformation, also linked to GNA11
- Angioosteohypertrophic syndrome, also linked to GNAQ
- Familial hypoparathyroidism, also linked to GNA11
Frequently asked questions
Which genes are linked to Familial multiple nevi flammei?
In CATVariant, Familial multiple nevi flammei is linked to 2 analyzed proteins: GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) and GNA11 (Guanine nucleotide-binding protein subunit alpha-11).
How many genetic variants are linked to Familial multiple nevi flammei?
5 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 Familial multiple nevi flammei 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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