CMAVM2
MCID: CPL015
MIFTS: 31

Capillary Malformation-Arteriovenous Malformation 2 (CMAVM2)

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

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation 2

MalaCards integrated aliases for Capillary Malformation-Arteriovenous Malformation 2:

Name: Capillary Malformation-Arteriovenous Malformation 2 57 74 29 6
Cmavm2 57 74
Vein of Galen Arteriovenous Malformations 59
Vein of Galen Aneurysmal Malformation 59

Characteristics:

Orphanet epidemiological data:

59
vein of galen aneurysmal malformation
Inheritance: Not applicable; Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

57
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

32
capillary malformation-arteriovenous malformation 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

MeSH 44 D054079
MESH via Orphanet 45 C536535
ICD10 via Orphanet 34 Q28.2
UMLS via Orphanet 73 C0431420
Orphanet 59 ORPHA1053

Summaries for Capillary Malformation-Arteriovenous Malformation 2

OMIM : 57 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 related phenotypes are abnormality of the cerebral vasculature and peripheral arteriovenous fistula

UniProtKB/Swiss-Prot : 74 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 50)
# Related Disease Score Top Affiliating Genes
1 vein of galen aneurysm 12.1
2 capillary malformation-arteriovenous malformation 1 11.9
3 hydrocephalus 10.7
4 congenital hydrocephalus 10.7
5 arteriovenous malformation 10.7
6 congestive heart failure 10.6
7 thrombosis 10.4
8 pulmonary hypertension 10.4
9 hereditary hemorrhagic telangiectasia 10.4
10 telangiectasis 10.4
11 exophthalmos 10.4
12 aneurysm 10.4
13 hydrocephalus, congenital, 1 10.3
14 cyanosis, transient neonatal 10.3
15 fetal edema 10.3
16 hydrops fetalis 10.3
17 patent ductus arteriosus 1 10.1
18 periventricular leukomalacia 10.1
19 heart septal defect 10.1
20 atrial heart septal defect 10.1
21 cerebral palsy 10.1
22 aortic coarctation 10.1
23 hemangioendothelioma 10.1
24 cerebral malformation 10.1
25 dural sinus malformation 10.1
26 coarctation of aorta 10.1
27 neurofibromatosis, type iv, of riccardi 10.1
28 varicose veins 10.1
29 galactosemia 10.1
30 hydrops fetalis, nonimmune 10.1
31 spastic diplegia 10.1
32 placenta praevia 10.1
33 respiratory failure 10.1
34 heart disease 10.1
35 visual epilepsy 10.1
36 leiomyoma 10.1
37 patent foramen ovale 10.1
38 vascular disease 10.1
39 tricuspid valve insufficiency 10.1
40 myofibroma 10.1
41 cerebrovascular disease 10.1
42 rasa1-related disorders 10.1
43 parkes weber syndrome 10.1
44 weber syndrome 10.1
45 headache 10.1
46 seizure disorder 10.1
47 tremor 10.1
48 rare arteriovenous malformation 10.1
49 immune hydrops fetalis 10.1
50 cardiogenic shock 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:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0100659
2 peripheral arteriovenous fistula 59 32 frequent (33%) Frequent (79-30%) HP:0100784
3 dilatation 32 frequent (33%) HP:0002617
4 vein of galen aneurysmal malformation 32 very rare (1%) HP:0030713
5 aneurysm 59 Frequent (79-30%)
6 telangiectasia 32 HP:0001009

Symptoms via clinical synopsis from OMIM:

57
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endovascular Management of Pediatric Intracranial Arteriovenous Shunts Not yet recruiting NCT03950258

Search 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 29 EPHB4

Anatomical Context for Capillary Malformation-Arteriovenous Malformation 2

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

41
Brain

Publications for Capillary Malformation-Arteriovenous Malformation 2

Articles related to Capillary Malformation-Arteriovenous Malformation 2:

# Title Authors PMID Year
1
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. 8 71
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. 8 71
28687708 2017
3
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 8 71
28730721 2017
4
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 38
30760892 2019

Variations for Capillary Malformation-Arteriovenous Malformation 2

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EPHB4 NM_004444.5(EPHB4): c.2405A> G (p.Asp802Gly) single nucleotide variant Pathogenic 7:100404121-100404121 7:100806499-100806499
2 EPHB4 NM_004444.5(EPHB4): c.33del (p.Leu12fs) deletion Pathogenic 7:100424620-100424620 7:100826998-100826998
3 EPHB4 NM_004444.5(EPHB4): c.802T> C (p.Cys268Arg) single nucleotide variant Pathogenic 7:100419899-100419899 7:100822277-100822277
4 EPHB4 NM_004444.5(EPHB4): c.630_631TG[1] (p.Val211fs) short repeat Pathogenic 7:100420068-100420069 7:100822446-100822447
5 EPHB4 NM_004444.5(EPHB4): c.1990G> A (p.Glu664Lys) single nucleotide variant Pathogenic 7:100410497-100410497 7:100812875-100812875
6 EPHB4 NM_004444.5(EPHB4): c.2484+1G> A single nucleotide variant Pathogenic 7:100404041-100404041 7:100806419-100806419
7 EPHB4 NM_004444.5(EPHB4): c.2484+1G> T single nucleotide variant Pathogenic 7:100404041-100404041 7:100806419-100806419
8 EPHB4 NM_004444.4(EPHB4): c.2484+2insT insertion Pathogenic
9 EPHB4 NM_004444.5(EPHB4): c.570dup (p.His191fs) duplication Pathogenic 7:100420131-100420131 7:100822509-100822509
10 EPHB4 NM_004444.5(EPHB4): c.319T> C (p.Cys107Arg) single nucleotide variant Pathogenic 7:100421358-100421358 7:100823736-100823736

UniProtKB/Swiss-Prot genetic disease variations for Capillary Malformation-Arteriovenous Malformation 2:

74
# Symbol AA change Variation ID SNP ID
1 EPHB4 p.Lys650Asn VAR_081706
2 EPHB4 p.Glu664Lys VAR_081708
3 EPHB4 p.Asn745Asp VAR_081711
4 EPHB4 p.Asp802Gly VAR_081714 rs776410552
5 EPHB4 p.Arg838Trp VAR_081719 rs764827256
6 EPHB4 p.Cys845Arg VAR_081720
7 EPHB4 p.Cys856Tyr VAR_081721
8 EPHB4 p.Arg864Trp VAR_081722 rs769965440
9 EPHB4 p.Phe867Leu VAR_081723

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

Cellular components related to Capillary Malformation-Arteriovenous Malformation 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 8.62 SLC12A9 EPHB4

Sources for Capillary Malformation-Arteriovenous Malformation 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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