VMOS
MCID: VSC050
MIFTS: 25

Vascular Malformation, Primary Intraosseous (VMOS)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Vascular Malformation, Primary Intraosseous

MalaCards integrated aliases for Vascular Malformation, Primary Intraosseous:

Name: Vascular Malformation, Primary Intraosseous 57 75 29 6 73
Vascular Malformation Osseous 57 75
Hemangioma, Intraosseous 57 75
Vmos 57 75
Primary Intraosseous Vascular Malformation 37
Primary Intraosseous Venous Malformation 59
Vascular Malformation Osseous; Vmos 57
Osseous Venous Malformation 59
Intraosseous Haemangiomas 73
Intraosseous Hemangioma 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood
acceleration of symptoms during early puberty


HPO:

32
vascular malformation, primary intraosseous:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 606893
Orphanet 59 ORPHA140436
UMLS via Orphanet 74 C1847197
ICD10 via Orphanet 34 D18.0
MedGen 42 C1847197
MeSH 44 D054079
KEGG 37 H02088

Summaries for Vascular Malformation, Primary Intraosseous

UniProtKB/Swiss-Prot : 75 Vascular malformation, primary intraosseous: A rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed. Inheritance is autosomal recessive.

MalaCards based summary : Vascular Malformation, Primary Intraosseous, also known as vascular malformation osseous, is related to patellofemoral pain syndrome and hemangioma, and has symptoms including unspecified visual loss An important gene associated with Vascular Malformation, Primary Intraosseous is ELMO2 (Engulfment And Cell Motility 2). Affiliated tissues include bone, and related phenotypes are increased intracranial pressure and umbilical hernia

OMIM : 57 Primary intraosseous vascular malformation, previously called intraosseous hemangioma, is a rare malformation that usually involves the vertebral column and the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequent (Vargel et al., 2002). (606893)

Related Diseases for Vascular Malformation, Primary Intraosseous

Diseases related to Vascular Malformation, Primary Intraosseous via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 patellofemoral pain syndrome 10.4
2 hemangioma 10.2
3 human venous malformation 9.9
4 coxa vara 9.9
5 ameloblastoma 9.9
6 spinal meningioma 9.9

Graphical network of the top 20 diseases related to Vascular Malformation, Primary Intraosseous:



Diseases related to Vascular Malformation, Primary Intraosseous

Symptoms & Phenotypes for Vascular Malformation, Primary Intraosseous

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
umbilical hernia

Abdomen External Features:
diastasis recti
supraumbilical raphe

Head And Neck Eyes:
exophthalmos
vision loss

Head And Neck Face:
painless swelling of facial bones from intraosseous vascular malformations
facial asymmetry due to progressive swelling of bones

Cardiovascular Vascular:
recurrent episodes of bleeding
abnormal organization of vessels
late-phase capillary pooling in affected bones
hypervascular lesions in facial bones

Skeletal Skull:
intraosseous vascular malformations in craniofacial bones, including mandible, maxilla, nasal bones, calvaria, sphenoid, and clivus

Hematology:
chronic microcytic hypochromic anemia

Head And Neck Mouth:
gingival bleeding

Laboratory Abnormalities:
elevated alkaline phosphatase
elevated lactate dehydrogenase (in some patients)

Neurologic Central Nervous System:
brainstem herniation (rare)
increased intracranial pressure (in some patients)

Head And Neck Teeth:
ectopic tooth eruption

Chest Ribs Sternum Clavicles And Scapulae:
intraosseous vascular malformations in clavicles (in some patients)
intraosseous vascular malformations in ribs (rare)

Skeletal Spine:
intraosseous vascular malformations in vertebrae (rare)


Clinical features from OMIM:

606893

Human phenotypes related to Vascular Malformation, Primary Intraosseous:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 increased intracranial pressure 32 occasional (7.5%) HP:0002516
2 umbilical hernia 32 HP:0001537
3 visual loss 32 HP:0000572
4 gingival bleeding 32 HP:0000225
5 proptosis 32 HP:0000520
6 facial asymmetry 32 HP:0000324
7 diastasis recti 32 HP:0001540
8 elevated alkaline phosphatase 32 HP:0003155

UMLS symptoms related to Vascular Malformation, Primary Intraosseous:


unspecified visual loss

Drugs & Therapeutics for Vascular Malformation, Primary Intraosseous

Search Clinical Trials , NIH Clinical Center for Vascular Malformation, Primary Intraosseous

Genetic Tests for Vascular Malformation, Primary Intraosseous

Genetic tests related to Vascular Malformation, Primary Intraosseous:

# Genetic test Affiliating Genes
1 Vascular Malformation, Primary Intraosseous 29 ELMO2

Anatomical Context for Vascular Malformation, Primary Intraosseous

MalaCards organs/tissues related to Vascular Malformation, Primary Intraosseous:

41
Bone

Publications for Vascular Malformation, Primary Intraosseous

Articles related to Vascular Malformation, Primary Intraosseous:

# Title Authors Year
1
Primary intra osseous venous malformation of nasal bone: A rare case report. ( 25593433 )
2014

Variations for Vascular Malformation, Primary Intraosseous

ClinVar genetic disease variations for Vascular Malformation, Primary Intraosseous:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELMO2 NM_133171.4(ELMO2): c.1065+1G> A single nucleotide variant Pathogenic rs768410753 GRCh38 Chromosome 20, 46375235: 46375235
2 ELMO2 NM_133171.4(ELMO2): c.1065+1G> A single nucleotide variant Pathogenic rs768410753 GRCh37 Chromosome 20, 45003874: 45003874
3 ELMO2 NM_133171.4(ELMO2): c.1802-1G> C single nucleotide variant Pathogenic rs886037918 GRCh37 Chromosome 20, 44999165: 44999165
4 ELMO2 NM_133171.4(ELMO2): c.1802-1G> C single nucleotide variant Pathogenic rs886037918 GRCh38 Chromosome 20, 46370526: 46370526
5 ELMO2 NM_133171.4(ELMO2): c.2080delC (p.Leu694Trpfs) deletion Pathogenic rs886037919 GRCh37 Chromosome 20, 44996082: 44996082
6 ELMO2 NM_133171.4(ELMO2): c.2080delC (p.Leu694Trpfs) deletion Pathogenic rs886037919 GRCh38 Chromosome 20, 46367443: 46367443

Expression for Vascular Malformation, Primary Intraosseous

Search GEO for disease gene expression data for Vascular Malformation, Primary Intraosseous.

Pathways for Vascular Malformation, Primary Intraosseous

GO Terms for Vascular Malformation, Primary Intraosseous

Sources for Vascular Malformation, Primary Intraosseous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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