MCID: CPL007
MIFTS: 38

Capillary Malformation-Arteriovenous Malformation

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

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation

MalaCards integrated aliases for Capillary Malformation-Arteriovenous Malformation:

Name: Capillary Malformation-Arteriovenous Malformation 53 24 55 71 28 13 69
Cmavm 53 49 71
Capillary Malformation-Arteriovenous Malformation Syndrome 49 24
Cm-Avm 24 55
Vascular Malformations 41
Cm-Avm Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
capillary malformation-arteriovenous malformation
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
in most cases capillary lesions are multifocal at birth and may increase in number with age


HPO:

31
capillary malformation-arteriovenous malformation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 608354
Orphanet 55 ORPHA137667
UMLS via Orphanet 70 C1842180
ICD10 via Orphanet 33 Q27.3
MeSH 41 D054079
UMLS 69 C1842180

Summaries for Capillary Malformation-Arteriovenous Malformation

Genetics Home Reference : 24 Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.

MalaCards based summary : Capillary Malformation-Arteriovenous Malformation, also known as cmavm, is related to arteriovenous malformation and immune hydrops fetalis, and has symptoms including arteriovenous malformation, capillary hemangiomas and arteriovenous fistula. An important gene associated with Capillary Malformation-Arteriovenous Malformation is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are EPH-Ephrin signaling and EphB-EphrinB Signaling. The drug GTPase-Activating Proteins has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotype is Increased cell death HMECs cells.

UniProtKB/Swiss-Prot : 71 Capillary malformation-arteriovenous malformation: A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.

Description from OMIM: 608354

Related Diseases for Capillary Malformation-Arteriovenous Malformation

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



Diseases related to Capillary Malformation-Arteriovenous Malformation

Symptoms & Phenotypes for Capillary Malformation-Arteriovenous Malformation

Symptoms via clinical synopsis from OMIM:

53
CardiovascularVascular:
arteriovenous malformation
arteriovenous fistulas (intracranial, in the spine, or on the face or extremities, but not in liver or lung)

SkinNailsHairSkin:
capillary malformations, commonly on face or neck, rarely on mucosa
maculae can be a few millimeters to several centimeters in diameter and can be surrounded by pale halo with punctate red spot in middle
maculae are homogeneous or telangiectatic and may vary in color from pale pink to red, purple or brown


Clinical features from OMIM:

608354

Human phenotypes related to Capillary Malformation-Arteriovenous Malformation:

31
# Description HPO Frequency HPO Source Accession
1 arteriovenous malformation 31 HP:0100026
2 capillary hemangiomas 31 HP:0005306
3 arteriovenous fistula 31 HP:0004947

GenomeRNAi Phenotypes related to Capillary Malformation-Arteriovenous Malformation according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.62 EPHB4 RASA1

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation

Drugs for Capillary Malformation-Arteriovenous Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 GTPase-Activating Proteins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pseudomonal Type Three Secretion System and Contact Lens Associated Microbial Keratitis Unknown status NCT01925846
2 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation

Cochrane evidence based reviews: vascular malformations

Genetic Tests for Capillary Malformation-Arteriovenous Malformation

Genetic tests related to Capillary Malformation-Arteriovenous Malformation:

# Genetic test Affiliating Genes
1 Capillary Malformation-Arteriovenous Malformation 28 RASA1

Anatomical Context for Capillary Malformation-Arteriovenous Malformation

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

38
Heart, Lung, Liver, Endothelial

Publications for Capillary Malformation-Arteriovenous Malformation

Articles related to Capillary Malformation-Arteriovenous Malformation:

(show all 23)
# Title Authors Year
1
RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis. ( 29120072 )
2018
2
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. ( 29024832 )
2018
3
Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management. ( 28558378 )
2017
4
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. ( 28730721 )
2017
5
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. ( 28687708 )
2017
6
5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings. ( 28297145 )
2017
7
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases. ( 27480194 )
2016
8
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. ( 26969842 )
2016
9
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. ( 26096958 )
2015
10
Capillary Malformation-Arteriovenous Malformation Syndrome with Spinal Involvement. ( 25040073 )
2014
11
Blood Vascular Abnormalities in Rasa1 R780Q Knockin Mice: Implications for the Pathogenesis of Capillary Malformation-Arteriovenous Malformation. ( 25283357 )
2014
12
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome. ( 25059281 )
2014
13
Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study. ( 25040287 )
2014
14
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. ( 23662773 )
2013
15
Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. ( 24168113 )
2013
16
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. ( 24038909 )
2013
17
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. ( 23687085 )
2013
18
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. ( 23829194 )
2013
19
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. ( 23933248 )
2013
20
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation. ( 27625812 )
2012
21
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. ( 23158644 )
2012
22
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. ( 21129558 )
2010
23
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. ( 14639529 )
2003

Variations for Capillary Malformation-Arteriovenous Malformation

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

71
# Symbol AA change Variation ID SNP ID
1 RASA1 p.Cys540Tyr VAR_017744 rs137853217
2 RASA1 p.Tyr528Cys VAR_072088 rs145752649
3 RASA1 p.Val530Asp VAR_072089
4 RASA1 p.Ala626Glu VAR_072090

ClinVar genetic disease variations for Capillary Malformation-Arteriovenous Malformation:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 RASA1 NM_002890.2(RASA1): c.475_476delCT (p.Leu159Glyfs) deletion Pathogenic rs797044451 GRCh37 Chromosome 5, 86564743: 86564744
2 RASA1 NM_002890.2(RASA1): c.1619G> A (p.Cys540Tyr) single nucleotide variant Pathogenic rs137853217 GRCh37 Chromosome 5, 86665638: 86665638
3 RASA1 RASA1, IVS3AS, G-A, -9 single nucleotide variant Pathogenic
4 RASA1 NM_002890.2(RASA1): c.2529dupT (p.Asn844Terfs) duplication Pathogenic rs878854569 GRCh37 Chromosome 5, 86675593: 86675593
5 RASA1 NM_002890.2(RASA1): c.2909_2913dupTTTTA (p.Asp972Phefs) duplication Pathogenic rs878854570 GRCh37 Chromosome 5, 86682704: 86682708
6 RASA1 NM_002890.2(RASA1): c.613_617delCTTAT (p.Leu205Lysfs) deletion Pathogenic rs1060503441 GRCh38 Chromosome 5, 87331421: 87331425
7 RASA1 NM_002890.2(RASA1): c.1358_1359delCA (p.Thr453Serfs) deletion Pathogenic rs1060503439 GRCh38 Chromosome 5, 87362576: 87362577
8 RASA1 NM_002890.2(RASA1): c.3055C> T (p.Gln1019Ter) single nucleotide variant Likely pathogenic rs1060503440 GRCh38 Chromosome 5, 87389522: 87389522
9 RASA1 NM_002890.2(RASA1): c.2847+1G> A single nucleotide variant Likely pathogenic rs1060503438 GRCh38 Chromosome 5, 87385390: 87385390
10 RASA1 NC_000005.10: g.(?_87268432)_(87353255_?)del deletion Pathogenic GRCh38 Chromosome 5, 87268432: 87353255
11 RASA1 NM_002890.2(RASA1): c.2707C> T (p.Arg903Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 87383729: 87383729
12 RASA1 NM_002890.2(RASA1): c.1659C> A (p.Tyr553Ter) single nucleotide variant Pathogenic rs747745016 GRCh38 Chromosome 5, 87369861: 87369861
13 RASA1 NM_002890.2(RASA1): c.2557dup (p.Ser853Phefs) duplication Pathogenic GRCh38 Chromosome 5, 87379804: 87379804
14 RASA1 NM_002890.2(RASA1): c.3109_3112delCAAA (p.Gln1037Thrfs) deletion Likely pathogenic GRCh38 Chromosome 5, 87390848: 87390851
15 RASA1 NM_002890.2(RASA1): c.656C> G (p.Ser219Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 86627281: 86627281
16 RASA1 NM_002890.2(RASA1): c.2873delC (p.Pro958Hisfs) deletion Pathogenic GRCh37 Chromosome 5, 86682668: 86682668

Expression for Capillary Malformation-Arteriovenous Malformation

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

Pathways for Capillary Malformation-Arteriovenous Malformation

GO Terms for Capillary Malformation-Arteriovenous Malformation

Biological processes related to Capillary Malformation-Arteriovenous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ephrin receptor signaling pathway GO:0048013 8.62 EPHB4 RASA1

Sources for Capillary Malformation-Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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