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.

Genes related to Glomuvenous Malformations; Gvm

GLMN

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 Panel GTR000552465 complete gene list PTEN, GJC2, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, FOXC2, RASA1, SOX18, CCBE1, ACVRL1, GDF2, GLMN, VEGFC, STAMBP, KIF11, PTPN14, TEK, FLT4 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 Panel GTR000529123 complete gene list PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6, ANTXR1 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 Panel GTR000560391 complete gene list BRCA1, BRCA2, HFE, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, WT1, RB1, SDHAF2, RET, MC1R, KIF1B, SDHC, FH, FAH, SDHB, NDUFA13, RNASEL, TMEM127, MEN1, SDHA, FANCC, BLM, TINF2, TSC2, TSC1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, RAD51D, RTEL1, WAS, NTRK1, NF1, CYP21A2, ERCC2, ERCC3, FANCB, DKC1, ATR, ANTXR2, TGFBR1, GLI3, MITF, LYST, TERT, ERCC6, SMARCA4, SMARCB1, GLMN, KIT, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, BAP1, CDKN1B, ERCC4, PIK3CA, POLD1, PDGFRA, POLE, AXIN2, AKT1, EXT2, EXT1, LIG4, AIP, KLHDC8B, ESCO2, RSPO1, CD96, WRN, DICER1, ERCC5, XPA, BUB1B, GALNT12, CYLD, KDR, RHBDF2, ANTXR1, XPC, PDE11A, TMC6, TMC8, UROD, POLH, MTAP, DIS3L2, DDB2, MLH3, PALLD, PTCH2, XRCC3, MSR1, ASCC1, MSMB, EPHB2, POU6F2, EHBP1, RAD51B 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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