Mucocutaneous Venous Malformations

Description

Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.

Clinical Features

Top most frequent phenotypes and symptoms related to Mucocutaneous Venous Malformations

  • Seizures
  • Ventricular septal defect
  • Nevus
  • Gastrointestinal hemorrhage
  • Hemangioma
  • Abnormality of the coagulation cascade
  • Abnormality of the mouth
  • Abnormality of the vasculature
  • Capillary hemangioma
  • Perimembranous ventricular septal defect

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Mucocutaneous Venous Malformations Is also known as cutaneous and mucosal venous malformation, vmcm, vmcm1.

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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Mucocutaneous Venous Malformations 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.

OMIM ORPHANET MESH Rare Disease Search Engine

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