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tufted angioma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tufted angioma

MONDO:0011927

Also known as:Nakagawa angioblastomaangioblastoma of Nakagawatufted angioma (disease)

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Overview

Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.

GeneticsAutosomal dominant

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials3 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Skin color changes (abnormality of skin pigmentation), Vascular skin abnormality, and Tufted angioma.

Organ System	Phenotype Count	Example Features
Skin	2	Skin color changes (abnormality of skin pigmentation), Vascular skin abnormality

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Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for tufted angioma. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for tufted angioma, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for tufted angioma. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

3 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 PHASE4, 1 PHASE2. Research is primarily sponsored by academic and government institutions.

15 publications have been identified in PubMed for tufted angioma. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (27%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Patient case studies	8

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607859

Orphanet

European rare disease database

Orphanet:1063

GARD

Genetic and Rare Diseases Info Center

GARD:425

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→What is the current development status of sirolimus, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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tufted angioma

Overview

Clinical Presentation

Explore clinical features

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

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