Blue Rubber Bleb Nevus

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Blue Rubber Bleb Nevus

  • Growth delay
  • Neoplasm
  • Pain
  • Anemia
  • Thrombocytopenia
  • Hyperhidrosis
  • Carcinoma
  • Abnormality of the liver
  • Skin rash
  • Leukemia

And another 30 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Blue Rubber Bleb Nevus Is also known as brbn, bean syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Blue Rubber Bleb Nevus Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
TEK (TIE2) Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TEK
Specificity
100 %
Genes
100 %
Multiple Cutaneous and Mucosal Venous Malformations.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

TEK
Specificity
100 %
Genes
100 %
TEK.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TEK
Specificity
100 %
Genes
100 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

BMPR2, TEK, GLMN, CAV1, KRIT1, ACVRL1, CCM2, ENG, GDF2, KCNK3, SMAD4, PDCD10, PTEN, RASA1
Specificity
8 %
Genes
100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Glomuvenous malformations and Cutaneomucosal venous malformations Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TEK, GLMN
Specificity
50 %
Genes
100 %
Glomuvenous malformations and Cutaneomucosal venous malformations NGS panel.

By Connective Tissue Gene Tests (United States).

TEK, GLMN
Specificity
50 %
Genes
100 %

We have 18 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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