Details of Disease

General Information of Disease (ID: DISBRQNI)

Disease Name Multiple cutaneous and mucosal venous malformations
Synonyms mucocutaneous venous malformations; Vmcm1; VENOUS malformations, multiple cutaneous and mucosal; cutaneous and mucosal venous malformation; VMCM
Definition Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.
Disease Hierarchy
DISVS67S: Vascular disease
DIS3HIWD: Autosomal dominant disease
DISBRQNI: Multiple cutaneous and mucosal venous malformations
Disease Identifiers
MONDO ID
MONDO_0010842
MESH ID
C563977
UMLS CUI
C1838437
OMIM ID
600195
MedGen ID
325026
Orphanet ID
2451
SNOMED CT ID
699301008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TEK TT9VGXW Limited Biomarker [1]
TEK TT9VGXW Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TEK OT78YN57 Definitive Autosomal dominant [2]
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References

1 Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.J Invest Dermatol. 2017 Jan;137(1):207-216. doi: 10.1016/j.jid.2016.07.034. Epub 2016 Aug 9.
2 Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet. 1999 Jul;8(7):1279-89. doi: 10.1093/hmg/8.7.1279.