CMAVM
MCID: CPL014
MIFTS: 37

Capillary Malformation-Arteriovenous Malformation 1 (CMAVM)

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

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation 1

MalaCards integrated aliases for Capillary Malformation-Arteriovenous Malformation 1:

Name: Capillary Malformation-Arteriovenous Malformation 1 58
Capillary Malformation-Arteriovenous Malformation 58 26 60 76 38 30 13 6 41
Cmavm 58 54 76
Capillary Malformation-Arteriovenous Malformation Syndrome 54 26
Cm-Avm 26 60
Capillary Malformation-Arteriovenous Malformation; Cmavm 58
Vascular Malformations 45
Vascular Malformation 17
Cm-Avm Syndrome 54
Cmavm1 58

Characteristics:

Orphanet epidemiological data:

60
capillary malformation-arteriovenous malformation
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
capillary malformation-arteriovenous malformation 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608354
KEGG 38 H02043
MeSH 45 D054079
ICD10 via Orphanet 35 Q27.3
UMLS via Orphanet 75 C1842180
Orphanet 60 ORPHA137667

Summaries for Capillary Malformation-Arteriovenous Malformation 1

OMIM : 58 Capillary malformation-arteriovenous malformation-1 is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). The CMs are usually multifocal and are surrounded by a pale halo with a central red dot; they increase in number with age. The AVMs generally occur in the brain or on the face or extremities. Intracranial AVMs include vein of Galen aneurysmal malformations (VGAMs). Parkes Weber syndrome is a specific type of CMAVM that presents with limb overgrowth, more commonly affecting one of the lower extremities (Eerola et al., 2003; Revencu et al., 2013; Johnson and Navarro, 2017). Parkes Weber syndrome is characterized by a cutaneous blush with underling multiple micro-AVFs in association with soft-tissue and skeletal hypertrophy of the affected limb (Mulliken and Young, 1988). (608354)

MalaCards based summary : Capillary Malformation-Arteriovenous Malformation 1, also known as capillary malformation-arteriovenous malformation, is related to capillary malformation-arteriovenous malformation 2 and congenital lipomatous overgrowth, vascular malformations, and epidermal nevi. An important gene associated with Capillary Malformation-Arteriovenous Malformation 1 is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways is MAPK signaling pathway. The drug GTPase-Activating Proteins has been mentioned in the context of this disorder. Affiliated tissues include brain, heart and lung, and related phenotypes are arteriovenous malformation and arteriovenous fistula

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Capillary Malformation-Arteriovenous Malformation 1

Diseases in the Capillary Malformation-Arteriovenous Malformation 1 family:

Capillary Malformation-Arteriovenous Malformation 2

Diseases related to Capillary Malformation-Arteriovenous Malformation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 202)
# Related Disease Score Top Affiliating Genes
1 capillary malformation-arteriovenous malformation 2 12.8
2 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 12.7
3 vascular malformation, primary intraosseous 12.5
4 cerebral cavernous malformations 11.5
5 phacomatosis pigmentovascularis 11.4
6 sturge-weber syndrome 11.4
7 proteus syndrome 11.4
8 angiodysplasia 11.4
9 dieulafoy lesion 11.1
10 capillary malformations, congenital 11.1
11 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
12 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.9
13 athabaskan brainstem dysgenesis syndrome 10.9
14 hemangioma, capillary infantile 10.9
15 cerebral cavernous malformation, familial 10.9
16 extracranial arteriovenous malformation 10.9
17 hypertrophic olivary degeneration 10.9
18 regional odontodysplasia 10.9
19 arteriovenous malformation 10.8
20 hereditary hemorrhagic telangiectasia 10.4
21 hemangioma 10.3
22 klippel-trenaunay-weber syndrome 10.1
23 hydrops fetalis, nonimmune 10.1
24 lymphatic malformation 7 10.1
25 arteriovenous fistula 10.1
26 cerebral hemorrhage 10.1
27 hypotrichosis 10.1
28 fetal edema 10.1
29 heparin-induced thrombocytopenia 10.1
30 hydrops fetalis 10.1
31 immune hydrops fetalis 10.1
32 telangiectasis 10.1
33 weber syndrome 10.0
34 capillary hemangioma 10.0
35 cavernous hemangioma 10.0
36 melorheostosis 9.9
37 wyburn-mason syndrome 9.9
38 cowden syndrome 1 9.9
39 ruvalcaba syndrome 9.9
40 down syndrome 9.9
41 wilms tumor 1 9.9
42 wilms tumor 5 9.9
43 wilms tumor 6 9.9
44 neuropathy 9.9
45 chromosomal triplication 9.9
46 blue rubber bleb nevus 9.8
47 hemifacial atrophy, progressive 9.8
48 patent ductus arteriosus 1 9.8
49 muscle hypertrophy 9.8
50 hydrocephalus 9.8

Graphical network of the top 20 diseases related to Capillary Malformation-Arteriovenous Malformation 1:



Diseases related to Capillary Malformation-Arteriovenous Malformation 1

Symptoms & Phenotypes for Capillary Malformation-Arteriovenous Malformation 1

Human phenotypes related to Capillary Malformation-Arteriovenous Malformation 1:

33
# Description HPO Frequency HPO Source Accession
1 arteriovenous malformation 33 HP:0100026
2 arteriovenous fistula 33 HP:0004947
3 capillary hemangioma 33 HP:0005306

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation 1

Drugs for Capillary Malformation-Arteriovenous Malformation 1 (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 1

Cochrane evidence based reviews: vascular malformations

Genetic Tests for Capillary Malformation-Arteriovenous Malformation 1

Genetic tests related to Capillary Malformation-Arteriovenous Malformation 1:

# Genetic test Affiliating Genes
1 Capillary Malformation-Arteriovenous Malformation 30 RASA1

Anatomical Context for Capillary Malformation-Arteriovenous Malformation 1

MalaCards organs/tissues related to Capillary Malformation-Arteriovenous Malformation 1:

42
Brain, Heart, Lung, Liver, Endothelial

Publications for Capillary Malformation-Arteriovenous Malformation 1

Articles related to Capillary Malformation-Arteriovenous Malformation 1:

(show all 29)
# Title Authors Year
1
Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation. ( 30635911 )
2019
2
Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome. ( 28295764 )
2018
3
Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. ( 29024832 )
2018
4
RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis. ( 29120072 )
2018
5
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation. ( 29891884 )
2018
6
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia. ( 30026675 )
2018
7
Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM). ( 30056992 )
2018
8
RASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation. ( 30368862 )
2018
9
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling. ( 28687708 )
2017
10
Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management. ( 28558378 )
2017
11
5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings. ( 28297145 )
2017
12
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report. ( 28730721 )
2017
13
A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases. ( 27480194 )
2016
14
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. ( 26969842 )
2016
15
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. ( 26096958 )
2015
16
Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study. ( 25040287 )
2014
17
Blood Vascular Abnormalities in Rasa1 R780Q Knockin Mice: Implications for the Pathogenesis of Capillary Malformation-Arteriovenous Malformation. ( 25283357 )
2014
18
Capillary Malformation-Arteriovenous Malformation Syndrome with Spinal Involvement. ( 25040073 )
2014
19
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome. ( 25059281 )
2014
20
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. ( 24038909 )
2013
21
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. ( 23933248 )
2013
22
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. ( 23662773 )
2013
23
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. ( 23687085 )
2013
24
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. ( 23829194 )
2013
25
Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. ( 24168113 )
2013
26
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. ( 23158644 )
2012
27
RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation. ( 27625812 )
2012
28
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. ( 21129558 )
2010
29
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. ( 14639529 )
2003

Variations for Capillary Malformation-Arteriovenous Malformation 1

UniProtKB/Swiss-Prot genetic disease variations for Capillary Malformation-Arteriovenous Malformation 1:

76
# 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 1:

6 (show top 50) (show all 229)
# Gene Variation Type Significance SNP ID Assembly Location
1 RASA1 NM_002890.2(RASA1): c.296C> T (p.Ala99Val) single nucleotide variant Benign/Likely benign rs111840875 GRCh37 Chromosome 5, 86564564: 86564564
2 RASA1 NM_002890.2(RASA1): c.296C> T (p.Ala99Val) single nucleotide variant Benign/Likely benign rs111840875 GRCh38 Chromosome 5, 87268747: 87268747
3 RASA1 NM_002890.2(RASA1): c.1777-14T> A single nucleotide variant Benign rs36000817 GRCh37 Chromosome 5, 86669966: 86669966
4 RASA1 NM_002890.2(RASA1): c.1777-14T> A single nucleotide variant Benign rs36000817 GRCh38 Chromosome 5, 87374149: 87374149
5 RASA1 NM_002890.2(RASA1): c.475_476delCT (p.Leu159Glyfs) deletion Pathogenic rs797044451 GRCh37 Chromosome 5, 86564743: 86564744
6 RASA1 NM_002890.2(RASA1): c.475_476delCT (p.Leu159Glyfs) deletion Pathogenic rs797044451 GRCh38 Chromosome 5, 87268926: 87268927
7 RASA1 NM_002890.2(RASA1): c.1619G> A (p.Cys540Tyr) single nucleotide variant Pathogenic rs137853217 GRCh37 Chromosome 5, 86665638: 86665638
8 RASA1 NM_002890.2(RASA1): c.1619G> A (p.Cys540Tyr) single nucleotide variant Pathogenic rs137853217 GRCh38 Chromosome 5, 87369821: 87369821
9 RASA1 NM_002890.2(RASA1): c.853C> T (p.Arg285Ter) single nucleotide variant Pathogenic rs137853218 GRCh37 Chromosome 5, 86629108: 86629108
10 RASA1 NM_002890.2(RASA1): c.853C> T (p.Arg285Ter) single nucleotide variant Pathogenic rs137853218 GRCh38 Chromosome 5, 87333291: 87333291
11 RASA1 RASA1, IVS3AS, G-A, -9 single nucleotide variant Pathogenic
12 RASA1 RASA1, 4-BP DUP, 2252TCAT duplication Pathogenic
13 RASA1 NM_002890.2(RASA1): c.304G> T (p.Val102Leu) single nucleotide variant Benign/Likely benign rs115606026 GRCh38 Chromosome 5, 87268755: 87268755
14 RASA1 NM_002890.2(RASA1): c.304G> T (p.Val102Leu) single nucleotide variant Benign/Likely benign rs115606026 GRCh37 Chromosome 5, 86564572: 86564572
15 RASA1 NM_002890.2(RASA1): c.1290G> A (p.Gln430=) single nucleotide variant Uncertain significance rs765869491 GRCh38 Chromosome 5, 87353193: 87353193
16 RASA1 NM_002890.2(RASA1): c.1290G> A (p.Gln430=) single nucleotide variant Uncertain significance rs765869491 GRCh37 Chromosome 5, 86649010: 86649010
17 RASA1 NM_002890.2(RASA1): c.1651G> A (p.Glu551Lys) single nucleotide variant Uncertain significance rs878854568 GRCh37 Chromosome 5, 86665670: 86665670
18 RASA1 NM_002890.2(RASA1): c.1651G> A (p.Glu551Lys) single nucleotide variant Uncertain significance rs878854568 GRCh38 Chromosome 5, 87369853: 87369853
19 RASA1 NM_002890.2(RASA1): c.2528C> A (p.Thr843Asn) single nucleotide variant Benign/Likely benign rs184201084 GRCh38 Chromosome 5, 87379775: 87379775
20 RASA1 NM_002890.2(RASA1): c.2528C> A (p.Thr843Asn) single nucleotide variant Benign/Likely benign rs184201084 GRCh37 Chromosome 5, 86675592: 86675592
21 RASA1 NM_002890.2(RASA1): c.2529dupT (p.Asn844Terfs) duplication Pathogenic rs878854569 GRCh37 Chromosome 5, 86675593: 86675593
22 RASA1 NM_002890.2(RASA1): c.2529dupT (p.Asn844Terfs) duplication Pathogenic rs878854569 GRCh38 Chromosome 5, 87379776: 87379776
23 RASA1 NM_002890.2(RASA1): c.2638T> A (p.Ser880Thr) single nucleotide variant Uncertain significance rs878854571 GRCh37 Chromosome 5, 86676360: 86676360
24 RASA1 NM_002890.2(RASA1): c.2638T> A (p.Ser880Thr) single nucleotide variant Uncertain significance rs878854571 GRCh38 Chromosome 5, 87380543: 87380543
25 RASA1 NM_002890.2(RASA1): c.2909_2913dupTTTTA (p.Asp972Phefs) duplication Pathogenic rs878854570 GRCh37 Chromosome 5, 86682704: 86682708
26 RASA1 NM_002890.2(RASA1): c.2909_2913dupTTTTA (p.Asp972Phefs) duplication Pathogenic rs878854570 GRCh38 Chromosome 5, 87386887: 87386891
27 RASA1 NM_002890.2(RASA1): c.2926-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369251473 GRCh37 Chromosome 5, 86685202: 86685202
28 RASA1 NM_002890.2(RASA1): c.2926-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369251473 GRCh38 Chromosome 5, 87389385: 87389385
29 RASA1 NM_002890.2(RASA1): c.-122_-120delGTT deletion Likely benign rs371042291 GRCh38 Chromosome 5, 87268330: 87268332
30 RASA1 NM_002890.2(RASA1): c.-122_-120delGTT deletion Likely benign rs371042291 GRCh37 Chromosome 5, 86564147: 86564149
31 RASA1 NM_002890.2(RASA1): c.224G> C (p.Gly75Ala) single nucleotide variant Likely benign rs200002693 GRCh38 Chromosome 5, 87268675: 87268675
32 RASA1 NM_002890.2(RASA1): c.224G> C (p.Gly75Ala) single nucleotide variant Likely benign rs200002693 GRCh37 Chromosome 5, 86564492: 86564492
33 RASA1 NM_002890.2(RASA1): c.899+8A> G single nucleotide variant Uncertain significance rs781285667 GRCh37 Chromosome 5, 86629162: 86629162
34 RASA1 NM_002890.2(RASA1): c.899+8A> G single nucleotide variant Uncertain significance rs781285667 GRCh38 Chromosome 5, 87333345: 87333345
35 RASA1 NM_002890.2(RASA1): c.1305T> C (p.Tyr435=) single nucleotide variant Uncertain significance rs778801311 GRCh37 Chromosome 5, 86649025: 86649025
36 RASA1 NM_002890.2(RASA1): c.1305T> C (p.Tyr435=) single nucleotide variant Uncertain significance rs778801311 GRCh38 Chromosome 5, 87353208: 87353208
37 RASA1 NM_002890.2(RASA1): c.2011+4A> C single nucleotide variant Uncertain significance rs886060840 GRCh37 Chromosome 5, 86670737: 86670737
38 RASA1 NM_002890.2(RASA1): c.2011+4A> C single nucleotide variant Uncertain significance rs886060840 GRCh38 Chromosome 5, 87374920: 87374920
39 RASA1 NM_002890.2(RASA1): c.2603C> T (p.Pro868Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138785106 GRCh37 Chromosome 5, 86675667: 86675667
40 RASA1 NM_002890.2(RASA1): c.2603C> T (p.Pro868Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs138785106 GRCh38 Chromosome 5, 87379850: 87379850
41 RASA1 NM_002890.2(RASA1): c.2691-11C> T single nucleotide variant Likely benign rs149730288 GRCh37 Chromosome 5, 86679519: 86679519
42 RASA1 NM_002890.2(RASA1): c.2691-11C> T single nucleotide variant Likely benign rs149730288 GRCh38 Chromosome 5, 87383702: 87383702
43 RASA1 NM_002890.2(RASA1): c.2926-14C> T single nucleotide variant Uncertain significance rs886060843 GRCh38 Chromosome 5, 87389379: 87389379
44 RASA1 NM_002890.2(RASA1): c.2926-14C> T single nucleotide variant Uncertain significance rs886060843 GRCh37 Chromosome 5, 86685196: 86685196
45 RASA1 NM_002890.2(RASA1): c.*298T> C single nucleotide variant Uncertain significance rs886060846 GRCh38 Chromosome 5, 87391181: 87391181
46 RASA1 NM_002890.2(RASA1): c.*298T> C single nucleotide variant Uncertain significance rs886060846 GRCh37 Chromosome 5, 86686998: 86686998
47 RASA1 NM_002890.2(RASA1): c.*375T> C single nucleotide variant Likely benign rs116868431 GRCh38 Chromosome 5, 87391258: 87391258
48 RASA1 NM_002890.2(RASA1): c.*375T> C single nucleotide variant Likely benign rs116868431 GRCh37 Chromosome 5, 86687075: 86687075
49 RASA1 NM_002890.2(RASA1): c.*818T> C single nucleotide variant Likely benign rs192141756 GRCh38 Chromosome 5, 87391701: 87391701
50 RASA1 NM_002890.2(RASA1): c.*818T> C single nucleotide variant Likely benign rs192141756 GRCh37 Chromosome 5, 86687518: 86687518

Expression for Capillary Malformation-Arteriovenous Malformation 1

Search GEO for disease gene expression data for Capillary Malformation-Arteriovenous Malformation 1.

Pathways for Capillary Malformation-Arteriovenous Malformation 1

Pathways related to Capillary Malformation-Arteriovenous Malformation 1 according to KEGG:

38
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

GO Terms for Capillary Malformation-Arteriovenous Malformation 1

Sources for Capillary Malformation-Arteriovenous Malformation 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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