Vascular Malformation, Primary Intraosseous
Description
Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.
Genes related to Vascular Malformation, Primary Intraosseous
- ELMO2
Clinical Features
Top most frequent phenotypes and symptoms related to Vascular Malformation, Primary Intraosseous
- Anemia
- Pain
- Hernia
- Visual loss
- Proptosis
- Umbilical hernia
- Facial asymmetry
- Acrania
- Paraplegia
- Elevated alkaline phosphatase
Incidence and onset information
— Not enough data available about incidence and published cases.
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Vascular Malformation, Primary Intraosseous Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Vascular malformations Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 % |
Vascular malformations NGS panel.
By Connective Tissue Gene Tests in United States.
PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 % |
Vascular malformations Comprehensive panel.
By Connective Tissue Gene Tests in United States.
PTEN, FOXF1, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, RASA1, ACVRL1, GDF2, KCNK3, CAV1, SMAD9, BMPR2, GLMN, TEK, EIF2AK4, ELMO2
Specificity
6 %
Genes
100 % |
ELMO2.
By Fulgent Genetics Fulgent Genetics in United States.
ELMO2
Specificity
100 %
Genes
100 % |
Vascular Malformations Panel.
By Blueprint Genetics in Finland.
PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GLMN, STAMBP, TEK, PIK3CA, ELMO2
Specificity
8 %
Genes
100 % |
Alternate names
Vascular Malformation, Primary Intraosseous Is also known as vascular malformation osseous;vmos, hemangioma, intraosseous;intraosseous hemangioma; osseous venous malformation.
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