Glomuvenous Malformations; Gvm

Description

Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM ), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (OMIM ) and vimentin (OMIM ) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (OMIM ) in mucocutaneous venous malformations and not in glomuvenous malformations.

Clinical Features

Phenotypes and symptoms related to Glomuvenous Malformations; Gvm

  • Milia
  • Neoplasm
  • Pain
  • Abnormality of metabolism/homeostasis
  • Abnormality of the skin
  • Hemangioma
  • Cavernous hemangioma
  • Venous malformation

Incidence and onset information

Not enough data available about incidence and published cases.


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Glomuvenous Malformations; Gvm Recommended genes panels

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

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PTEN, GJC2, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, FOXC2, RASA1, SOX18, CCBE1, ACVRL1, GDF2, GLMN, VEGFC, STAMBP, KIF11, PTPN14, TEK , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Glomuvenous malformations.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

GLMN
Specificity
100 %
Genes
100 %
GLMN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

GLMN
Specificity
100 %
Genes
100 %
Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

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

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

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...)

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 in United States.

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

By Connective Tissue Gene Tests in United States.

GLMN, TEK
Specificity
50 %
Genes
100 %
Glomuvenous malformations and Cutaneomucosal venous malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GLMN, TEK
Specificity
50 %
Genes
100 %
Vascular malformations Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 %
Vascular malformations NGS panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 %
Vascular malformations Comprehensive panel.

By Connective Tissue Gene Tests in United States.

PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 %
Glomuvenous malformations NGS Test.

By Connective Tissue Gene Tests in United States.

GLMN
Specificity
100 %
Genes
100 %
Glomuvenous malformations Deletion / Duplication Test.

By Connective Tissue Gene Tests in United States.

GLMN
Specificity
100 %
Genes
100 %
Glomuvenous malformations Comprehensive Test.

By Connective Tissue Gene Tests in United States.

GLMN
Specificity
100 %
Genes
100 %
Venous malformation (TEK, GLMN).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

GLMN, TEK
Specificity
50 %
Genes
100 %
Glomuvenous Malformation (TEK, GLMN).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

GLMN, TEK
Specificity
50 %
Genes
100 %
GLMN.

By Fulgent Genetics Fulgent Genetics in United States.

GLMN
Specificity
100 %
Genes
100 %
Vascular Malformations Panel.

By Blueprint Genetics in Finland.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GLMN, STAMBP, TEK, PIK3CA, ELMO2
Specificity
8 %
Genes
100 %
GLOMUVENOUS MALFORMATION.

By Laboratorio de Genetica Clinica SL in Spain.

GLMN
Specificity
100 %
Genes
100 %
Glomuvenous Malformation , Sequencing GLMN Gene.

By Reference Laboratory Genetics in Spain.

GLMN
Specificity
100 %
Genes
100 %
Glomuvenous malformations.

By Labor Dr. Wisplinghoff in Germany.

GLMN
Specificity
100 %
Genes
100 %
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %

Alternate names

Glomuvenous Malformations; Gvm Is also known as venous malformations with glomus cells;vmglom, glomus tumors, multiple, glomangiomas, multiple;glomangiomatosis; hereditary multiple glomangiomas; multiple glomus tumors; vmglom; venous malformations with glomus cells.



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