MCID: CPL007
MIFTS: 34

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 54 25 71 29 13 69
Capillary Malformation-Arteriovenous Malformation Syndrome 50 24 25 56
Cm-Avm 24 25 56
Cmavm 50 71
Vascular Malformations 42
Cm-Avm Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
capillary malformation-arteriovenous malformation syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
in most cases capillary lesions are multifocal at birth and may increase in number with age

Inheritance:
autosomal dominant


HPO:

32
capillary malformation-arteriovenous malformation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608354
Orphanet 56 ORPHA137667
UMLS via Orphanet 70 C1842180
ICD10 via Orphanet 34 Q27.3
MeSH 42 D054079

Summaries for Capillary Malformation-Arteriovenous Malformation

Genetics Home Reference : 25 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 capillary malformation-arteriovenous malformation syndrome, is related to vascular malformation and vascular malformation, primary intraosseous, and has symptoms including arteriovenous fistula, capillary hemangiomas and arteriovenous malformation. An important gene associated with Capillary Malformation-Arteriovenous Malformation is RASA1 (RAS P21 Protein Activator 1). The drug GTPase-Activating Proteins has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver.

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:

54

Skin Nails & Hair- Skin:
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
capillary malformations, commonly on face or neck, rarely on mucosa

Cardiovascular- Vascular:
arteriovenous fistulas (intracranial, in the spine, or on the face or extremities, but not in liver or lung)
arteriovenous malformation


Clinical features from OMIM:

608354

Human phenotypes related to Capillary Malformation-Arteriovenous Malformation:

32
id Description HPO Frequency HPO Source Accession
1 arteriovenous fistula 32 HP:0004947
2 capillary hemangiomas 32 HP:0005306
3 arteriovenous malformation 32 HP:0100026

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation

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


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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Capillary Malformation-Arteriovenous Malformation 29
2 Capillary Malformation-Arteriovenous Malformation Syndrome 24 RASA1

Anatomical Context for Capillary Malformation-Arteriovenous Malformation

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

39
Heart, Lung, Liver

Publications for Capillary Malformation-Arteriovenous Malformation

Articles related to Capillary Malformation-Arteriovenous Malformation:

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

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

Sources for Capillary Malformation-Arteriovenous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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