Blue Rubber Bleb Nevus (BRBN)

Alias:
Bean Syndrome
Brbn
Nevus, Blue Rubber Bleb
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Blue Rubber Bleb Nevus, also known as bean syndrome, is related to venous malformations, multiple cutaneous and mucosal and glomuvenous malformations. An important gene associated with Blue Rubber Bleb Nevus is GLMN (Glomulin, FKBP Associated Protein). The drugs Temsirolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are arteriovenous malformation and skin rash

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
2
20
14

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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