CMAVM2
MCID: CPL015
MIFTS: 32

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 56 73 29 6
Cmavm2 56 73
Vein of Galen Arteriovenous Malformations 58
Vein of Galen Aneurysmal Malformation 58

Characteristics:

Orphanet epidemiological data:

58
vein of galen aneurysmal malformation
Inheritance: Not applicable; Age of onset: Antenatal,Infancy,Neonatal;

OMIM:

56
Miscellaneous:
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

31
capillary malformation-arteriovenous malformation 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

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


External Ids:

OMIM 56 618196
OMIM Phenotypic Series 56 PS608354
MeSH 43 D054079
MESH via Orphanet 44 C536535
ICD10 via Orphanet 33 Q28.2
UMLS via Orphanet 72 C0431420
Orphanet 58 ORPHA1053

Summaries for Capillary Malformation-Arteriovenous Malformation 2

OMIM : 56 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, heart and skin, and related phenotypes are abnormality of the cerebral vasculature and peripheral arteriovenous fistula

UniProtKB/Swiss-Prot : 73 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 44)
# 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 arteriovenous malformation 10.7
5 congestive heart failure 10.6
6 thrombosis 10.4
7 pulmonary hypertension 10.4
8 hereditary hemorrhagic telangiectasia 10.4
9 telangiectasis 10.4
10 exophthalmos 10.4
11 aneurysm 10.4
12 hydrocephalus, congenital, 1 10.3
13 hydrops fetalis, nonimmune 10.3
14 cyanosis, transient neonatal 10.3
15 heart disease 10.3
16 patent ductus arteriosus 1 10.1
17 periventricular leukomalacia 10.1
18 heart septal defect 10.1
19 atrial heart septal defect 10.1
20 cerebral palsy 10.1
21 hemangioendothelioma 10.1
22 dural sinus malformation 10.1
23 coarctation of aorta 10.1
24 neurofibromatosis, type iv, of riccardi 10.1
25 varicose veins 10.1
26 galactosemia 10.1
27 spastic diplegia 10.1
28 placenta praevia 10.1
29 respiratory failure 10.1
30 visual epilepsy 10.1
31 leiomyoma 10.1
32 patent foramen ovale 10.1
33 vascular disease 10.1
34 tricuspid valve insufficiency 10.1
35 myofibroma 10.1
36 cerebrovascular disease 10.1
37 parkes weber syndrome 10.1
38 weber syndrome 10.1
39 headache 10.1
40 seizure disorder 10.1
41 tremor 10.1
42 rare arteriovenous malformation 10.1
43 immune hydrops fetalis 10.1
44 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:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the cerebral vasculature 58 31 hallmark (90%) Very frequent (99-80%) HP:0100659
2 peripheral arteriovenous fistula 58 31 frequent (33%) Frequent (79-30%) HP:0100784
3 dilatation 31 frequent (33%) HP:0002617
4 vein of galen aneurysmal malformation 31 very rare (1%) HP:0030713
5 aneurysm 58 Frequent (79-30%)
6 telangiectasia 31 HP:0001009

Symptoms via clinical synopsis from OMIM:

56
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:

40
Brain, Heart, Skin, Placenta

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. 56 6
29444212 2018
2
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. 56 6
28730721 2017
3
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. 56 6
28687708 2017
4
Capillary Malformation-Arteriovenous Malformation Syndrome 6
21348050 2011
5
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 61
30760892 2019

Variations for Capillary Malformation-Arteriovenous Malformation 2

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

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EPHB4 NM_004444.5(EPHB4):c.33del (p.Leu12fs)deletion Pathogenic 590870 rs1562976493 7:100424620-100424620 7:100826998-100826998
2 EPHB4 NM_004444.5(EPHB4):c.630_631TG[1] (p.Val211fs)short repeat Pathogenic 590872 rs1562973541 7:100420068-100420069 7:100822446-100822447
3 EPHB4 NM_004444.5(EPHB4):c.2484+1G>ASNV Pathogenic 590874 rs927772349 7:100404041-100404041 7:100806419-100806419
4 EPHB4 NM_004444.5(EPHB4):c.2484+1G>TSNV Pathogenic 590875 rs927772349 7:100404041-100404041 7:100806419-100806419
5 EPHB4 NM_004444.5(EPHB4):c.2484+2dupduplication Pathogenic 590876 7:100404039-100404040 7:100806417-100806418
6 EPHB4 NM_004444.5(EPHB4):c.570dup (p.His191fs)duplication Pathogenic 590877 rs1562973614 7:100420130-100420131 7:100822508-100822509
7 EPHB4 NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp)SNV Pathogenic 691551 7:100403211-100403211 7:100805589-100805589
8 EPHB4 NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter)SNV Pathogenic 691537 7:100417353-100417353 7:100819731-100819731
9 EPHB4 NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter)SNV Pathogenic 691531 7:100421288-100421288 7:100823666-100823666
10 EPHB4 NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter)SNV Pathogenic/Likely pathogenic 620197 rs377702127 7:100404108-100404108 7:100806486-100806486
11 EPHB4 NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)SNV Likely pathogenic 590869 rs776410552 7:100404121-100404121 7:100806499-100806499
12 EPHB4 NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu)SNV Likely pathogenic 691536 7:100403202-100403202 7:100805580-100805580
13 EPHB4 NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp)SNV Likely pathogenic 691543 7:100405088-100405088 7:100807466-100807466
14 EPHB4 NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn)SNV Likely pathogenic 691540 7:100410537-100410537 7:100812915-100812915
15 EPHB4 NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr)SNV Likely pathogenic 691534 7:100403234-100403234 7:100805612-100805612
16 EPHB4 NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg)SNV Likely pathogenic 691533 7:100403268-100403268 7:100805646-100805646
17 EPHB4 NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp)SNV Likely pathogenic 691550 7:100403289-100403289 7:100805667-100805667
18 EPHB4 NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)SNV Likely pathogenic 590873 rs1562969219 7:100410497-100410497 7:100812875-100812875
19 EPHB4 NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)SNV Uncertain significance 590871 rs201816920 7:100419899-100419899 7:100822277-100822277
20 EPHB4 NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)SNV Uncertain significance 590878 rs1562974383 7:100421358-100421358 7:100823736-100823736
21 EPHB4 NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu)SNV Uncertain significance 691546 7:100404067-100404067 7:100806445-100806445
22 EPHB4 NM_004444.5(EPHB4):c.2458C>A (p.Pro820Thr)SNV Uncertain significance 691547 7:100404068-100404068 7:100806446-100806446
23 EPHB4 NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg)SNV Uncertain significance 691539 7:100404107-100404107 7:100806485-100806485
24 EPHB4 NM_004444.5(EPHB4):c.2366C>G (p.Pro789Arg)SNV Uncertain significance 691544 7:100404160-100404160 7:100806538-100806538
25 EPHB4 NM_004444.5(EPHB4):c.2365C>T (p.Pro789Ser)SNV Uncertain significance 691545 7:100404161-100404161 7:100806539-100806539
26 EPHB4 NM_004444.5(EPHB4):c.1546G>A (p.Gly516Arg)SNV Uncertain significance 691538 7:100414856-100414856 7:100817234-100817234
27 EPHB4 NM_004444.5(EPHB4):c.1406T>G (p.Val469Gly)SNV Uncertain significance 691552 7:100416158-100416158 7:100818536-100818536
28 EPHB4 NM_004444.5(EPHB4):c.2173G>A (p.Ala725Thr)SNV Uncertain significance 691532 7:100405148-100405148 7:100807526-100807526
29 EPHB4 NM_004444.5(EPHB4):c.1966C>T (p.Arg656Trp)SNV Uncertain significance 691549 7:100410521-100410521 7:100812899-100812899
30 EPHB4 NM_004444.5(EPHB4):c.2621T>C (p.Leu874Pro)SNV Uncertain significance 691542 7:100403180-100403180 7:100805558-100805558
31 EPHB4 NM_004444.5(EPHB4):c.2609T>A (p.Val870Glu)SNV Uncertain significance 691553 7:100403192-100403192 7:100805570-100805570
32 EPHB4 NM_004444.5(EPHB4):c.221G>C (p.Arg74Pro)SNV Uncertain significance 691548 7:100421456-100421456 7:100823834-100823834
33 EPHB4 NM_004444.5(EPHB4):c.175G>A (p.Glu59Lys)SNV Uncertain significance 691535 7:100421502-100421502 7:100823880-100823880
34 EPHB4 NM_004444.5(EPHB4):c.560T>C (p.Leu187Pro)SNV Uncertain significance 691541 7:100420141-100420141 7:100822519-100822519

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

73
# 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....