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 58 76 30 6 74
Vascular Malformation Osseous 58 76
Hemangioma, Intraosseous 58 76
Vmos 58 76
Primary Intraosseous Vascular Malformation 38
Primary Intraosseous Venous Malformation 60
Vascular Malformation Osseous; Vmos 58
Osseous Venous Malformation 60
Intraosseous Haemangiomas 74
Intraosseous Hemangioma 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
vascular malformation, primary intraosseous:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 606893
KEGG 38 H02088
MeSH 45 D054079
ICD10 via Orphanet 35 D18.0
UMLS via Orphanet 75 C1847197
Orphanet 60 ORPHA140436
MedGen 43 C1847197

Summaries for Vascular Malformation, Primary Intraosseous

UniProtKB/Swiss-Prot : 76 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 : 58 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 10.4
3 human venous malformation 9.9
4 coxa vara 9.9
5 ameloblastoma 9.9
6 spinal meningioma 9.9
7 thyroid cancer 9.9
8 nipah virus disease 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

Human phenotypes related to Vascular Malformation, Primary Intraosseous:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 increased intracranial pressure 33 occasional (7.5%) HP:0002516
2 umbilical hernia 33 HP:0001537
3 visual loss 33 HP:0000572
4 gingival bleeding 33 HP:0000225
5 proptosis 33 HP:0000520
6 facial asymmetry 33 HP:0000324
7 diastasis recti 33 HP:0001540
8 elevated alkaline phosphatase 33 HP:0003155

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ELMO2

Anatomical Context for Vascular Malformation, Primary Intraosseous

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

42
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
7 ELMO2 NM_133171.5(ELMO2): c.1525C> T (p.Arg509Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 46371861: 46371861
8 ELMO2 NM_133171.5(ELMO2): c.1525C> T (p.Arg509Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 45000500: 45000500

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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