multiple cutaneous and mucosal venous malformations

Summary
Synonym
  • VMCM
  • cutaneomucosal venous malformation
  • mucocutaneous venous malformations
Definition
A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21.
Super Class
autosomal dominant disease skin disease vein disease
Disease Ontology
DOID:0050792
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7010 TEK TEK receptor tyrosine kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
21687 Tek TEK receptor tyrosine kinase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
35717 tor torso
43026 Cad96Ca Cadherin 96Ca
Displaying 1 entry
Gene ID Gene Symbol Description Source
30747 tek TEK tyrosine kinase, endothelial

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024