Blue rubber bleb nevus syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Bean syndrome; Blue rubber bleb nevus; BRBNS
Blood Diseases; Congenital and Genetic Diseases; Heart Diseases;
Blue rubber bleb nevus
Nevi may also be found in the intestines (particularly the small intestine) in individuals with blue rubber bleb nevus syndrome. These nevi can bleed spontaneously causing
Blue rubber bleb nevus syndrome can affect other body
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Collection of dilated blood vessels that forms mass
|Prolonged bleeding time||0003010|
|30%-79% of people have these symptoms|
|Abnormality of coagulation||0001928|
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|5%-29% of people have these symptoms|
Death of digestive organ tissue due to poor blood supply
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the liver||
[ more ]
|Abnormality of the mouth||
|Abnormality of the respiratory system||0002086|
|Chronic disseminated intravascular coagulation||0005520|
|Iron deficiency anemia||0001891|
Rectum protrudes through anus
Low platelet count
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include vascular tumors, either benign (hemangiomas) or malignant (Kaposi's sarcoma, angiosarcoma); vascular anomalies associated with congenital or systemic diseases (Klippel-Trenaunay-Weber, Ehlers-Danlos, the CREST variant of scleroderma, and Osler-Weber-Rendu syndrome) and acquired and sporadic lesions (angiodysplasias, gastric antral vascular ectasia, radiation-induced vascular ectasias, and Dieulafoy's lesions) (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
National Organization of Vascular Anomalies (NOVA)
PO Box 38216
Greensboro, NC 27438-8216
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Blue rubber bleb nevus syndrome. Click on the link to view a sample search on this topic.
- Dobru D, Seuchea N, Dorin M, Careianu V. Blue rubber bleb nevus syndrome: case report and literature review. Rom J Gastroenterol. 2004 Sep;13(3):237-40.
- Ertem D, Acar Y, Kotiloglu E, Yucelten D, Pehlivanoglu E. Blue rubber bleb nevus syndrome. Pediatrics. 2001 Feb;107(2):418-20.
- Massoumi H, Patel S. Blue rubber bleb nevus syndrome. Gastrointestinal endoscopy. 2007;
- Brandt LJ. Blue rubber bleb nevus syndrome: Capsule endoscopy in a patient with GI bleeding. Gastrointestinal endoscopy. 2007;
- den Heijer T. Blue rubber bleb nevus syndrome. Neurology. 2007;
- Cherpelis BS. Blue rubber bleb nevus syndrome. eMedicine. August 2012; https://emedicine.medscape.com/article/1082839-print. Accessed 11/9/2012.
- Blue Rubber Bleb Nevus. Online Mendelian Inheritance in Man. May 10, 2012; https://omim.org/entry/112200.
- Boon LM, Vikkula M. GeneReviews. 2008; https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=vmcm. Accessed 1/14/2010.
- Brandt LJ. Vascular lesions of the gastrointestinal tract. In: Feldman. Sleisenger & Fordtran's Gastrointestinal and Liver Disease, 8th ed. Philadelphia, PA: Saunders; 2006;
- Morelli JG. Vascular disorders. In: Kliegman. Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007;