CMAVM
MCID: CPL010
MIFTS: 23

Capillary Malformation-Arteriovenous Malformation Syndrome (CMAVM) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Capillary Malformation-Arteriovenous Malformation Syndrome

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Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: Capillary Malformation-Arteriovenous Malformation Syndrome, also known as capillary malformation-arteriovenous malformation, is related to arteriovenous malformation and cerebritis. An important gene associated with Capillary Malformation-Arteriovenous Malformation Syndrome is RASA1 (RAS p21 protein activator (GTPase activating protein) 1).

Description from OMIM:47 608354

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cm-avm:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

capillary malformation-arteriovenous malformation syndrome 43 20 22 21
capillary malformation-arteriovenous malformation 21 47 62
cm-avm 21 49
capillary malformation - arteriovenous malformation 49
cm-avm syndrome 43
cmavm 43


External Ids:

OMIM47 608354
ICD10 via Orphanet26 Q27.3

Related Diseases for Capillary Malformation-Arteriovenous Malformation Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Capillary Malformation-Arteriovenous Malformation Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation10.7
2cerebritis10.3

Symptoms for Capillary Malformation-Arteriovenous Malformation Syndrome

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47OMIM
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Clinical features from OMIM:

608354

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Capillary Malformation-Arteriovenous Malformation Syndrome

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation Syndrome

Genetic Tests for Capillary Malformation-Arteriovenous Malformation Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Capillary Malformation-Arteriovenous Malformation Syndrome:

id Genetic test Affiliating Genes
1 Capillary Malformation-Arteriovenous Malformation Syndrome20 RASA1
2 Capillary Malformation-Arteriovenous Malformation22

Anatomical Context for Capillary Malformation-Arteriovenous Malformation Syndrome

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Animal Models for Capillary Malformation-Arteriovenous Malformation Syndrome or affiliated genes

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Publications for Capillary Malformation-Arteriovenous Malformation Syndrome

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52PubMed
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Articles related to Capillary Malformation-Arteriovenous Malformation Syndrome:

idTitleAuthorsYear
1
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. (23933248)
2013
2
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. (23829194)
2013
3
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. (23662773)
2013
4
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. (23158644)
2012
5
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. (21129558)
2010

Variations for Capillary Malformation-Arteriovenous Malformation Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Capillary Malformation-Arteriovenous Malformation Syndrome:

64
id Symbol AA change Variation ID SNP ID
1RASA1p.Cys540TyrVAR_017744

Clinvar genetic disease variations for Capillary Malformation-Arteriovenous Malformation Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RASA1RASA1, 2-BP DEL, 475CTdeletionPathogenic
2RASA1NM_002890.2(RASA1): c.1619G> A (p.Cys540Tyr)single nucleotide variantPathogenicrs137853217GRCh37Chr 5, 86665638: 86665638
3RASA1RASA1, IVS3AS, G-A, -9single nucleotide variantPathogenic

Expression for genes affiliated with Capillary Malformation-Arteriovenous Malformation Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Capillary Malformation-Arteriovenous Malformation Syndrome

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

Pathways for genes affiliated with Capillary Malformation-Arteriovenous Malformation Syndrome

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Compounds for genes affiliated with Capillary Malformation-Arteriovenous Malformation Syndrome

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GO Terms for genes affiliated with Capillary Malformation-Arteriovenous Malformation Syndrome

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Products for genes affiliated with Capillary Malformation-Arteriovenous Malformation Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Capillary Malformation-Arteriovenous Malformation Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet