Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial multiple nevi flammei - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial multiple nevi flammei

MONDO:0008094

Also known as:Nevus flammeusSalmon patch Nevuscapillary malformations, congenital, 1, somatic, mosaic

Find Clinical TrialsTrials

Overview

A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.

GeneticsAutosomal dominant · GNAQ (chr 9)

Clinical Trials7 registered · 5 recruiting

Clinical Presentation

Features include: Nevus flammeus.

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GNAQ encodes G protein subunit alpha q (359 aa). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. Highest expression in Artery Tibial (54.7 TPM) and Brain Frontal Cortex BA9 (54.1 TPM).

Familial multiple nevi flammei is associated with mutations in the GNAQ gene on chromosome 9.

The GNAQ protein participates in G alpha (q):RGS dissociates to inactive G alpha (q) and RHOA GEFs activate RHOA pathways.

GNAQ is classified as a druggable target (Clinically Actionable, Drug Resistance, and Enzyme categories) with score 4.7.

Diagnosis

Genetic testing for GNAQ is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial multiple nevi flammei has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

7 clinical trials registered, 5 recruiting. Interventions under study include medical devices, drug therapy, and procedural interventions. Pipeline includes 2 PHASE2, 5 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07436611](https://clinicaltrials.gov/study/NCT07436611)

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:163000

Orphanet

European rare disease database

Orphanet:624

GARD

Genetic and Rare Diseases Info Center

GARD:3986

Questions for Your Care Team

→Are any of the 7 active clinical trials a good fit for my situation?
→Should I pursue genetic testing for GNAQ, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Patient case studies	26	32%
Research summaries	16	20%
Other research	8	10%
Clinical study results	8	10%
Laboratory research	7	9%
Disease patterns and progression	7	9%
New treatment approaches	7	9%
Testing and diagnosis research	3	4%

familial multiple nevi flammei

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications