Glomuvenous malformation

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMUS TUMORS, MULTIPLE
VMGLOM
GLOMANGIOMAS, MULTIPLE
GVM
Hereditary multiple glomangiomas
venous malformations with glomus cells
Multiple glomus tumors
Glomangiomatosis
Number of Symptoms 5
OrphanetNr: 83454
OMIM Id: 138000
ICD-10: Q27.8
UMLs: C1841984
MeSH: C536827
MedDRA: 10018381
Snomed: 403969002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurovascular malformation
 -Rare genetic disease
Venous malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000951) Abnormality of the skin 147 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Multiple layers of glomus cells lining blood-filled cavities 1 / 7739
5
(OMIM) Multiple glomus tumors 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, they have a consistency harder than that of venous ...
Molecular genetics OMIM In various autosomal dominant skin disorders, segmental forms reflecting mosaicism have been reported. Happle (1997) delineated 2 different types of mosaic manifestation. Type 1 reflects heterozygosity for the underlying mutation and shows the same degree of severity as ...