Details of Disease

General Information of Disease (ID: DIS5UNDD)

Disease Name Glomuvenous malformation
Synonyms
glomangiomas, multiple; GLOMUVENOUS malformations; glomus tumors, multiple; GVM; glomangiomatosis; glomuvenous malformation; multiple glomus tumours; multiple glomus tumors; hereditary multiple glomangiomas; Venous malformations with glomus cells; hereditary glomangioma; VMGLOM; familial glomangioma
Definition Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS2DB7A: Vascular malformation
DIS5UNDD: Glomuvenous malformation
Disease Identifiers
MONDO ID
MONDO_0007672
MESH ID
C536827
UMLS CUI
C1841984
OMIM ID
138000
MedGen ID
374834
Orphanet ID
83454
SNOMED CT ID
715644000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GLMN TT2UV5C Definitive Autosomal dominant [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCTN3 OTQOSUES Limited Genetic Variation [2]
RBX1 OTYA1UIO Limited Altered Expression [3]
SMTN OT4R2TYK Limited Altered Expression [4]
GLMN OTID6YNN Definitive Autosomal dominant [1]
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References

1 Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC. Eur J Hum Genet. 2001 Jan;9(1):34-8. doi: 10.1038/sj.ejhg.5200576.
2 Genetic analysis of a family with hereditary glomuvenous malformations.Australas J Dermatol. 2007 Aug;48(3):170-3. doi: 10.1111/j.1440-0960.2007.00373.x.
3 The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7.Mol Cell. 2012 Apr 13;46(1):67-78. doi: 10.1016/j.molcel.2012.02.005. Epub 2012 Mar 8.
4 Smoothelin and WT-1 expression in glomus tumors and glomuvenous malformations.Histol Histopathol. 2017 Feb;32(2):153-160. doi: 10.14670/HH-11-782. Epub 2016 May 17.