CMAVM2
MCID: CPL015
MIFTS: 26

Capillary Malformation-Arteriovenous Malformation 2 (CMAVM2)

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

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation 2

MalaCards integrated aliases for Capillary Malformation-Arteriovenous Malformation 2:

Name: Capillary Malformation-Arteriovenous Malformation 2 58 76 30 6
Cmavm2 58 76
Vein of Galen Arteriovenous Malformations 60
Vein of Galen Aneurysmal Malformation 60

Characteristics:

Orphanet epidemiological data:

60
vein of galen aneurysmal malformation
Inheritance: Not applicable; Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


Classifications:



External Ids:

OMIM 58 618196
MeSH 45 D054079
MESH via Orphanet 46 C536535
ICD10 via Orphanet 35 Q28.2
UMLS via Orphanet 75 C0431420
Orphanet 60 ORPHA1053
MedGen 43 CN257482

Summaries for Capillary Malformation-Arteriovenous Malformation 2

OMIM : 58 Capillary malformation-arteriovenous malformation-2 (CMAVM2) is an autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities. Some affected individuals also exhibit Parkes Weber lesions of the extremities, and vein of Galen aneurysmal malformations (VGAMs) are present in some patients (Amyere et al., 2017). For a discussion of genetic heterogeneity of CMAVM, see 608354. (618196)

MalaCards based summary : Capillary Malformation-Arteriovenous Malformation 2, also known as cmavm2, is related to vein of galen aneurysm and capillary malformation-arteriovenous malformation 1. An important gene associated with Capillary Malformation-Arteriovenous Malformation 2 is EPHB4 (EPH Receptor B4). Affiliated tissues include brain and heart, and related phenotypes are abnormality of the cerebral vasculature and peripheral arteriovenous fistula

UniProtKB/Swiss-Prot : 76 Capillary malformation-arteriovenous malformation 2: An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.

Related Diseases for Capillary Malformation-Arteriovenous Malformation 2

Diseases in the Capillary Malformation-Arteriovenous Malformation 1 family:

Capillary Malformation-Arteriovenous Malformation 2

Diseases related to Capillary Malformation-Arteriovenous Malformation 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 vein of galen aneurysm 11.9
2 capillary malformation-arteriovenous malformation 1 11.5
3 arteriovenous malformation 10.7
4 pulmonary hypertension 10.2
5 aortic coarctation 10.2
6 coarctation of aorta 10.1
7 galactosemia 10.1
8 arteriovenous fistula 10.1
9 congestive heart failure 10.1
10 spastic diplegia 10.1
11 exophthalmos 10.1
12 rere-related disorders 10.1
13 parkes weber syndrome 10.1
14 weber syndrome 10.1
15 tremor 10.1
16 headache 10.1

Graphical network of the top 20 diseases related to Capillary Malformation-Arteriovenous Malformation 2:



Diseases related to Capillary Malformation-Arteriovenous Malformation 2

Symptoms & Phenotypes for Capillary Malformation-Arteriovenous Malformation 2

Human phenotypes related to Capillary Malformation-Arteriovenous Malformation 2:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 60 33 hallmark (90%) Very frequent (99-80%) HP:0100659
2 peripheral arteriovenous fistula 60 33 frequent (33%) Frequent (79-30%) HP:0100784
3 dilatation 33 frequent (33%) HP:0002617
4 vein of galen aneurysmal malformation 33 very rare (1%) HP:0030713
5 aneurysm 60 Frequent (79-30%)
6 telangiectasia 33 HP:0001009

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
enlarged head at birth (in some patients)

Skin Nails Hair Skin:
capillary malformations (head, neck, trunk, extremities)
telangiectases (lips, perioral area, upper thorax)
bier spots

Cardiovascular Vascular:
arteriovenous malformations (cutaneous, subcutaneous, muscular, bony)
parkes weber lesions (extremities)
vein of galen aneurysmal malformation (in some patients)

Clinical features from OMIM:

618196

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation 2

Search Clinical Trials , NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation 2

Genetic Tests for Capillary Malformation-Arteriovenous Malformation 2

Genetic tests related to Capillary Malformation-Arteriovenous Malformation 2:

# Genetic test Affiliating Genes
1 Capillary Malformation-Arteriovenous Malformation 2 30 EPHB4

Anatomical Context for Capillary Malformation-Arteriovenous Malformation 2

MalaCards organs/tissues related to Capillary Malformation-Arteriovenous Malformation 2:

42
Brain, Heart

Publications for Capillary Malformation-Arteriovenous Malformation 2

Articles related to Capillary Malformation-Arteriovenous Malformation 2:

# Title Authors Year
1
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. ( 29444212 )
2018
2
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. ( 28687708 )
2017
3
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. ( 28730721 )
2017
4
[Vein of Galen arteriovenous malformations and neonatal convulsions]. ( 15948069 )
2005

Variations for Capillary Malformation-Arteriovenous Malformation 2

ClinVar genetic disease variations for Capillary Malformation-Arteriovenous Malformation 2:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPHB4 NM_004444.5(EPHB4): c.2405A> G (p.Asp802Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100806499: 100806499
2 EPHB4 NM_004444.5(EPHB4): c.2405A> G (p.Asp802Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100404121: 100404121
3 EPHB4 NM_004444.5(EPHB4): c.33del (p.Leu12Trpfs) deletion Pathogenic GRCh37 Chromosome 7, 100424620: 100424620
4 EPHB4 NM_004444.5(EPHB4): c.33del (p.Leu12Trpfs) deletion Pathogenic GRCh38 Chromosome 7, 100826998: 100826998
5 EPHB4 NM_004444.5(EPHB4): c.802T> C (p.Cys268Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100419899: 100419899
6 EPHB4 NM_004444.5(EPHB4): c.802T> C (p.Cys268Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100822277: 100822277
7 EPHB4 NM_004444.5(EPHB4): c.632_633del (p.Val211Alafs) deletion Pathogenic GRCh37 Chromosome 7, 100420068: 100420069
8 EPHB4 NM_004444.5(EPHB4): c.632_633del (p.Val211Alafs) deletion Pathogenic GRCh38 Chromosome 7, 100822446: 100822447
9 EPHB4 NM_004444.5(EPHB4): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100812875: 100812875
10 EPHB4 NM_004444.5(EPHB4): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100410497: 100410497
11 EPHB4 NM_004444.4(EPHB4): c.2484+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100806419: 100806419
12 EPHB4 NM_004444.4(EPHB4): c.2484+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100404041: 100404041
13 EPHB4 NM_004444.4(EPHB4): c.2484+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100806419: 100806419
14 EPHB4 NM_004444.4(EPHB4): c.2484+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100404041: 100404041
15 EPHB4 NM_004444.4(EPHB4): c.2484+2insT insertion Pathogenic
16 EPHB4 NM_004444.5(EPHB4): c.570dup (p.His191Alafs) duplication Pathogenic GRCh37 Chromosome 7, 100420131: 100420131
17 EPHB4 NM_004444.5(EPHB4): c.570dup (p.His191Alafs) duplication Pathogenic GRCh38 Chromosome 7, 100822509: 100822509
18 EPHB4 NM_004444.5(EPHB4): c.319T> C (p.Cys107Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 100823736: 100823736
19 EPHB4 NM_004444.5(EPHB4): c.319T> C (p.Cys107Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 100421358: 100421358

Expression for Capillary Malformation-Arteriovenous Malformation 2

Search GEO for disease gene expression data for Capillary Malformation-Arteriovenous Malformation 2.

Pathways for Capillary Malformation-Arteriovenous Malformation 2

GO Terms for Capillary Malformation-Arteriovenous Malformation 2

Sources for Capillary Malformation-Arteriovenous Malformation 2

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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