Mucocutaneous Venous Malformations

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Mucocutaneous Venous Malformations

View recommended genes panels

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.

Click here to know more about Mendelian.

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

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.

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 Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 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 Panel complete gene list BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1 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 %

You can get up to 18 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VERHEIJ SYNDROME; VRJS