MCID: CPL007
MIFTS: 39

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 57 25 59 75 37 29 13 6 40 73
Cmavm 57 53 75
Capillary Malformation-Arteriovenous Malformation Syndrome 53 25
Cm-Avm 25 59
Vascular Malformations 44
Cm-Avm Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
capillary malformation-arteriovenous malformation
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
capillary malformation-arteriovenous malformation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608354
Orphanet 59 ORPHA137667
UMLS via Orphanet 74 C1842180
ICD10 via Orphanet 34 Q27.3
MeSH 44 D054079
KEGG 37 H02043
UMLS 73 C1842180

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 cmavm, is related to arteriovenous malformation and parkes weber syndrome. An important gene associated with Capillary Malformation-Arteriovenous Malformation is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are MAPK signaling pathway and GPCR Pathway. The drug GTPase-Activating Proteins has been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are arteriovenous fistula and capillary hemangioma

UniProtKB/Swiss-Prot : 75 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:

57
Cardiovascular Vascular:
arteriovenous malformation
arteriovenous fistulas (intracranial, in the spine, or on the face or extremities, but not in liver or lung)

Skin Nails Hair Skin:
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:

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.28 EPHB4
2 Decreased viability GR00221-A-2 9.28 EPHB4
3 Decreased viability GR00221-A-3 9.28 RASA1
4 Decreased viability GR00221-A-4 9.28 EPHB4 RASA1
5 Decreased viability GR00301-A 9.28 EPHB4
6 Decreased viability GR00381-A-1 9.28 RASA1
7 Decreased viability GR00402-S-2 9.28 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 Not Applicable

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 Not Applicable

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 29 RASA1

Anatomical Context for Capillary Malformation-Arteriovenous Malformation

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

41
Heart, Lung, Liver, Endothelial

Publications for Capillary Malformation-Arteriovenous Malformation

Articles related to Capillary Malformation-Arteriovenous Malformation:

(show all 25)
# Title Authors Year
1
Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome. ( 28295764 )
2018
2
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. ( 29024832 )
2018
3
RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis. ( 29120072 )
2018
4
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. ( 29891884 )
2018
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
Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management. ( 28558378 )
2017
7
5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings. ( 28297145 )
2017
8
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. ( 28730721 )
2017
9
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases. ( 27480194 )
2016
10
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. ( 26969842 )
2016
11
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. ( 26096958 )
2015
12
Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study. ( 25040287 )
2014
13
Blood Vascular Abnormalities in Rasa1 R780Q Knockin Mice: Implications for the Pathogenesis of Capillary Malformation-Arteriovenous Malformation. ( 25283357 )
2014
14
Capillary Malformation-Arteriovenous Malformation Syndrome with Spinal Involvement. ( 25040073 )
2014
15
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome. ( 25059281 )
2014
16
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. ( 24038909 )
2013
17
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. ( 23933248 )
2013
18
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. ( 23662773 )
2013
19
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. ( 23687085 )
2013
20
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. ( 23829194 )
2013
21
Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. ( 24168113 )
2013
22
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. ( 23158644 )
2012
23
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation. ( 27625812 )
2012
24
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. ( 21129558 )
2010
25
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:

75
# Symbol AA change Variation ID SNP ID
1 RASA1 p.Cys540Tyr VAR_017744 rs137853217
2 RASA1 p.Val530Asp VAR_072089
3 RASA1 p.Ala626Glu VAR_072090

ClinVar genetic disease variations for Capillary Malformation-Arteriovenous Malformation:

6
(show top 50) (show all 204)
# 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.475_476delCT (p.Leu159Glyfs) deletion Pathogenic rs797044451 GRCh38 Chromosome 5, 87268926: 87268927
3 RASA1 NM_002890.2(RASA1): c.1619G> A (p.Cys540Tyr) single nucleotide variant Pathogenic rs137853217 GRCh37 Chromosome 5, 86665638: 86665638
4 RASA1 NM_002890.2(RASA1): c.1619G> A (p.Cys540Tyr) single nucleotide variant Pathogenic rs137853217 GRCh38 Chromosome 5, 87369821: 87369821
5 RASA1 RASA1, IVS3AS, G-A, -9 single nucleotide variant Pathogenic
6 RASA1 NM_002890.2(RASA1): c.296C> T (p.Ala99Val) single nucleotide variant Benign/Likely benign rs111840875 GRCh37 Chromosome 5, 86564564: 86564564
7 RASA1 NM_002890.2(RASA1): c.296C> T (p.Ala99Val) single nucleotide variant Benign/Likely benign rs111840875 GRCh38 Chromosome 5, 87268747: 87268747
8 RASA1 NM_002890.2(RASA1): c.1777-14T> A single nucleotide variant Benign rs36000817 GRCh37 Chromosome 5, 86669966: 86669966
9 RASA1 NM_002890.2(RASA1): c.1777-14T> A single nucleotide variant Benign rs36000817 GRCh38 Chromosome 5, 87374149: 87374149
10 RASA1 NM_002890.2(RASA1): c.304G> T (p.Val102Leu) single nucleotide variant Benign/Likely benign rs115606026 GRCh38 Chromosome 5, 87268755: 87268755
11 RASA1 NM_002890.2(RASA1): c.304G> T (p.Val102Leu) single nucleotide variant Benign/Likely benign rs115606026 GRCh37 Chromosome 5, 86564572: 86564572
12 RASA1 NM_002890.2(RASA1): c.1290G> A (p.Gln430=) single nucleotide variant Uncertain significance rs765869491 GRCh38 Chromosome 5, 87353193: 87353193
13 RASA1 NM_002890.2(RASA1): c.1290G> A (p.Gln430=) single nucleotide variant Uncertain significance rs765869491 GRCh37 Chromosome 5, 86649010: 86649010
14 RASA1 NM_002890.2(RASA1): c.1651G> A (p.Glu551Lys) single nucleotide variant Uncertain significance rs878854568 GRCh37 Chromosome 5, 86665670: 86665670
15 RASA1 NM_002890.2(RASA1): c.1651G> A (p.Glu551Lys) single nucleotide variant Uncertain significance rs878854568 GRCh38 Chromosome 5, 87369853: 87369853
16 RASA1 NM_002890.2(RASA1): c.2528C> A (p.Thr843Asn) single nucleotide variant Benign/Likely benign rs184201084 GRCh38 Chromosome 5, 87379775: 87379775
17 RASA1 NM_002890.2(RASA1): c.2528C> A (p.Thr843Asn) single nucleotide variant Benign/Likely benign rs184201084 GRCh37 Chromosome 5, 86675592: 86675592
18 RASA1 NM_002890.2(RASA1): c.2529dupT (p.Asn844Terfs) duplication Pathogenic rs878854569 GRCh37 Chromosome 5, 86675593: 86675593
19 RASA1 NM_002890.2(RASA1): c.2529dupT (p.Asn844Terfs) duplication Pathogenic rs878854569 GRCh38 Chromosome 5, 87379776: 87379776
20 RASA1 NM_002890.2(RASA1): c.2638T> A (p.Ser880Thr) single nucleotide variant Uncertain significance rs878854571 GRCh37 Chromosome 5, 86676360: 86676360
21 RASA1 NM_002890.2(RASA1): c.2638T> A (p.Ser880Thr) single nucleotide variant Uncertain significance rs878854571 GRCh38 Chromosome 5, 87380543: 87380543
22 RASA1 NM_002890.2(RASA1): c.2909_2913dupTTTTA (p.Asp972Phefs) duplication Pathogenic rs878854570 GRCh37 Chromosome 5, 86682704: 86682708
23 RASA1 NM_002890.2(RASA1): c.2909_2913dupTTTTA (p.Asp972Phefs) duplication Pathogenic rs878854570 GRCh38 Chromosome 5, 87386887: 87386891
24 RASA1 NM_002890.2(RASA1): c.2926-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369251473 GRCh37 Chromosome 5, 86685202: 86685202
25 RASA1 NM_002890.2(RASA1): c.2926-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369251473 GRCh38 Chromosome 5, 87389385: 87389385
26 RASA1 NM_002890.2(RASA1): c.-122_-120delGTT deletion Likely benign rs886060839 GRCh38 Chromosome 5, 87268330: 87268332
27 RASA1 NM_002890.2(RASA1): c.-122_-120delGTT deletion Likely benign rs886060839 GRCh37 Chromosome 5, 86564147: 86564149
28 RASA1 NM_002890.2(RASA1): c.224G> C (p.Gly75Ala) single nucleotide variant Likely benign rs200002693 GRCh38 Chromosome 5, 87268675: 87268675
29 RASA1 NM_002890.2(RASA1): c.224G> C (p.Gly75Ala) single nucleotide variant Likely benign rs200002693 GRCh37 Chromosome 5, 86564492: 86564492
30 RASA1 NM_002890.2(RASA1): c.899+8A> G single nucleotide variant Uncertain significance rs781285667 GRCh37 Chromosome 5, 86629162: 86629162
31 RASA1 NM_002890.2(RASA1): c.899+8A> G single nucleotide variant Uncertain significance rs781285667 GRCh38 Chromosome 5, 87333345: 87333345
32 RASA1 NM_002890.2(RASA1): c.1305T> C (p.Tyr435=) single nucleotide variant Uncertain significance rs778801311 GRCh37 Chromosome 5, 86649025: 86649025
33 RASA1 NM_002890.2(RASA1): c.1305T> C (p.Tyr435=) single nucleotide variant Uncertain significance rs778801311 GRCh38 Chromosome 5, 87353208: 87353208
34 RASA1 NM_002890.2(RASA1): c.2011+4A> C single nucleotide variant Uncertain significance rs886060840 GRCh37 Chromosome 5, 86670737: 86670737
35 RASA1 NM_002890.2(RASA1): c.2011+4A> C single nucleotide variant Uncertain significance rs886060840 GRCh38 Chromosome 5, 87374920: 87374920
36 RASA1 NM_002890.2(RASA1): c.2603C> T (p.Pro868Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138785106 GRCh37 Chromosome 5, 86675667: 86675667
37 RASA1 NM_002890.2(RASA1): c.2603C> T (p.Pro868Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138785106 GRCh38 Chromosome 5, 87379850: 87379850
38 RASA1 NM_002890.2(RASA1): c.2691-11C> T single nucleotide variant Likely benign rs149730288 GRCh38 Chromosome 5, 87383702: 87383702
39 RASA1 NM_002890.2(RASA1): c.2691-11C> T single nucleotide variant Likely benign rs149730288 GRCh37 Chromosome 5, 86679519: 86679519
40 RASA1 NM_002890.2(RASA1): c.2926-14C> T single nucleotide variant Uncertain significance rs886060843 GRCh37 Chromosome 5, 86685196: 86685196
41 RASA1 NM_002890.2(RASA1): c.2926-14C> T single nucleotide variant Uncertain significance rs886060843 GRCh38 Chromosome 5, 87389379: 87389379
42 RASA1 NM_002890.2(RASA1): c.*298T> C single nucleotide variant Uncertain significance rs886060846 GRCh37 Chromosome 5, 86686998: 86686998
43 RASA1 NM_002890.2(RASA1): c.*298T> C single nucleotide variant Uncertain significance rs886060846 GRCh38 Chromosome 5, 87391181: 87391181
44 RASA1 NM_002890.2(RASA1): c.*375T> C single nucleotide variant Likely benign rs116868431 GRCh37 Chromosome 5, 86687075: 86687075
45 RASA1 NM_002890.2(RASA1): c.*375T> C single nucleotide variant Likely benign rs116868431 GRCh38 Chromosome 5, 87391258: 87391258
46 RASA1 NM_002890.2(RASA1): c.*818T> C single nucleotide variant Likely benign rs192141756 GRCh38 Chromosome 5, 87391701: 87391701
47 RASA1 NM_002890.2(RASA1): c.*818T> C single nucleotide variant Likely benign rs192141756 GRCh37 Chromosome 5, 86687518: 86687518
48 RASA1 NM_002890.2(RASA1): c.*852A> G single nucleotide variant Likely benign rs182603054 GRCh38 Chromosome 5, 87391735: 87391735
49 RASA1 NM_002890.2(RASA1): c.*852A> G single nucleotide variant Likely benign rs182603054 GRCh37 Chromosome 5, 86687552: 86687552
50 RASA1 NM_002890.2(RASA1): c.-198G> T single nucleotide variant Likely benign rs149279711 GRCh37 Chromosome 5, 86564071: 86564071

Expression for Capillary Malformation-Arteriovenous Malformation

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

Pathways for Capillary Malformation-Arteriovenous Malformation

Pathways related to Capillary Malformation-Arteriovenous Malformation according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....