VMPI
MCID: VSC050
MIFTS: 31

Vascular Malformation, Primary Intraosseous (VMPI)

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 72 29 6 70
Vascular Malformation Osseous 57 72
Hemangioma, Intraosseous 57 72
Vmos 57 72
Primary Intraosseous Vascular Malformation 36
Primary Intraosseous Venous Malformation 58
Vascular Malformation Osseous; Vmos 57
Osseous Venous Malformation 58
Intraosseous Haemangiomas 70
Intraosseous Hemangioma 58
Vmpi 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
vascular malformation, primary intraosseous:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 606893
KEGG 36 H02088
MeSH 44 D054079
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 71 C1847197
Orphanet 58 ORPHA140436
MedGen 41 C1847197
UMLS 70 C0877075 C1847197

Summaries for Vascular Malformation, Primary Intraosseous

UniProtKB/Swiss-Prot : 72 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 hemangioma and cavernous 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 thyroid and pituitary, and related phenotypes are increased intracranial pressure and umbilical hernia

OMIM® : 57 Primary intraosseous vascular malformation (VMPI), 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) (Updated 20-May-2021)

KEGG : 36 Primary intraosseous vascular malformation (VMPI), previously called intraosseous hemangioma, is a very rare malformation that is usually seen in the vertebral column and in the skull. It is almost exclusively described in sporadic cases. It has recently been reported that loss-of-function mutations in ELMO2 is causative for VMPI in different families.

Related Diseases for Vascular Malformation, Primary Intraosseous

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hemangioma 10.8
2 cavernous hemangioma 10.3
3 capillary hemangioma 10.2
4 exophthalmos 10.1
5 meningioma, familial 10.0
6 intracranial meningioma 10.0
7 secretory meningioma 10.0
8 lymphoplasmacyte-rich meningioma 10.0
9 carpal tunnel syndrome 9.9
10 coxa vara 9.9
11 thyroid cancer, nonmedullary, 1 9.9
12 chondrosarcoma 9.9
13 hemihyperplasia, isolated 9.9
14 osteoid osteoma 9.9
15 yemenite deaf-blind hypopigmentation syndrome 9.9
16 ameloblastoma 9.9
17 ptosis 9.9
18 fibrous dysplasia 9.9
19 spinal meningioma 9.9
20 tooth resorption 9.9
21 mesenchymal cell neoplasm 9.9
22 pituitary adenoma 9.9
23 nasal cavity benign neoplasm 9.9
24 intracranial hypertension 9.9
25 rare vascular tumor 9.9
26 rare tumor 9.9
27 thyroid carcinoma 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 increased intracranial pressure 31 occasional (7.5%) HP:0002516
2 umbilical hernia 31 HP:0001537
3 facial asymmetry 31 HP:0000324
4 proptosis 31 HP:0000520
5 gingival bleeding 31 HP:0000225
6 diastasis recti 31 HP:0001540
7 visual loss 31 HP:0000572
8 hypochromic anemia 31 HP:0001931
9 elevated alkaline phosphatase 31 HP:0003155
10 supraumbilical raphe 31 HP:0410276

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
umbilical hernia

Abdomen External Features:
diastasis recti
supraumbilical raphe

Head And Neck Eyes:
vision loss
exophthalmos

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 (Updated 20-May-2021)

UMLS symptoms related to Vascular Malformation, Primary Intraosseous:


unspecified visual loss

Drugs & Therapeutics for Vascular Malformation, Primary Intraosseous

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective Randomized Study Comparing the Outcome of Electrical Stimulation of Vastus Medialis Obliquus Muscle and Physical Therapy vs Only Physical Therapy But no Electrical Stimulation in Patients With Patellofemoral Pain Syndrome Recruiting NCT03184545 Phase 3
2 The Effect of Specific Versus Generalised Quadriceps Exercise on Neural Control of the Vasti Completed NCT00662493 Phase 2
3 Immediate Effect of Selective Neuromuscular Electrical Stimulation of Vastus Medialis Obliquus in Women With Patellofemoral Pain Syndrome Unknown status NCT02548988
4 Comparison of Mobilization With Movement and Mulligan Knee Taping Technique on Patellofemoral Pain Syndrome. Completed NCT04173468
5 A Validation Study of Force Sense Measurement With a New Instrument Recruiting NCT03852199
6 The Use of Wii Fit ™ to Increase Compliance With Home Exercises for Treatment of Patellofemoral Syndrome in Adolescent Females Terminated NCT01007643

Search 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:

40
Thyroid, Pituitary

Publications for Vascular Malformation, Primary Intraosseous

Articles related to Vascular Malformation, Primary Intraosseous:

# Title Authors PMID Year
1
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling. 57 6
27476657 2016
2
Hereditary intraosseous vascular malformation of the craniofacial region: an apparently novel disorder. 6 57
11932989 2002
3
Molecular dynamic and docking interaction study of Heterodera glycines serine proteinase with Vigna mungo proteinase inhibitor. 61
23813339 2013

Variations for Vascular Malformation, Primary Intraosseous

ClinVar genetic disease variations for Vascular Malformation, Primary Intraosseous:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ELMO2 NM_133171.5(ELMO2):c.1065+1G>A SNV Pathogenic 254191 rs768410753 GRCh37: 20:45003874-45003874
GRCh38: 20:46375235-46375235
2 ELMO2 NM_133171.5(ELMO2):c.2080del (p.Leu694fs) Deletion Pathogenic 254193 rs886037919 GRCh37: 20:44996082-44996082
GRCh38: 20:46367443-46367443
3 ELMO2 NM_133171.5(ELMO2):c.560dup (p.Ser188fs) Duplication Pathogenic 1032384 GRCh37: 20:45014879-45014880
GRCh38: 20:46386240-46386241
4 ELMO2 NM_133171.5(ELMO2):c.1802-1G>C SNV Likely pathogenic 254192 rs886037918 GRCh37: 20:44999165-44999165
GRCh38: 20:46370526-46370526
5 ELMO2 NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter) SNV Uncertain significance 623355 rs1568748859 GRCh37: 20:45000500-45000500
GRCh38: 20:46371861-46371861
6 ELMO2 NM_133171.5(ELMO2):c.963G>A (p.Arg321=) SNV Benign 993895 GRCh37: 20:45003977-45003977
GRCh38: 20:46375338-46375338

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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