KEGG DISEASE: Cutaneous and mucosal venous malformation

KEGG

DISEASE: Cutaneous and mucosal venous malformation

Entry

H02044                      Disease

Name

Cutaneous and mucosal venous malformation;
Mucocutaneous venous malformation

Description

The multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which pathogenic variants are known to cause VMCM. TIE2 is vascular endothelial cell specific receptor tyrosine kinase, that plays a crucial role in angiogenesis and cardiovascular development.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the skin
    Developmental anomalies of cutaneous vasculature
     LC51  Developmental venous malformations involving the skin
      H02044  Cutaneous and mucosal venous malformation

Pathway

PI3K-Akt signaling pathway

HIF-1 signaling pathway

Gene

TEK [HSA:7010] [KO:K05121]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M

Title

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.

Journal

Nat Genet 41:118-24 (2009)
DOI:10.1038/ng.272

Reference

Authors

Boon LM, Vikkula M

Title

Multiple Cutaneous and Mucosal Venous Malformations

Journal

GeneReviews (1993)

LinkDB

» Japanese version

DBGET integrated database retrieval system