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blue rubber bleb nevus (BRBN) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

blue rubber bleb nevus

MONDO:0007203

Also known as:BRBNBRBNSBlue Rubber Bleb Nevus syndrome

Find Clinical TrialsTrials

Overview

Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.

GeneticsAutosomal dominant

Clinical Trials2 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: Hypermelanotic macule, Abnormality of the mouth, Low iron red blood cell count (iron deficiency anemia), and Intussusception and 10 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Low iron red blood cell count (iron deficiency anemia), Intestinal bleeding, Chronic disseminated intravascular coagulation

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions and medical devices. Pipeline includes 1 NA. Research is sponsored by a mix of industry and academic institutions.

38 publications have been identified in PubMed for blue rubber bleb nevus. Research spans Case Report / Case Series (63%), Other (21%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	24	63%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:112200

Orphanet

European rare disease database

Orphanet:1059

GARD

Genetic and Rare Diseases Info Center

GARD:5940

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→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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Kisho

blue rubber bleb nevus

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Blue rubber bleb nevus syndrome as an uncommon cause of gastrointestinal overt bleeding: a diagnostic and therapeutic challenge.

Blue Rubber Bleb Nevus Syndrome Presenting as Severe Transfusion-Dependent Anemia in an Elderly Patient: An Unusual Cause of Lower Gastrointestinal Bleeding.

blue rubber bleb nevus

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Blue rubber bleb nevus syndrome as an uncommon cause of gastrointestinal overt bleeding: a diagnostic and therapeutic challenge.

Blue Rubber Bleb Nevus Syndrome Presenting as Severe Transfusion-Dependent Anemia in an Elderly Patient: An Unusual Cause of Lower Gastrointestinal Bleeding.