CMAVM
MCID: CPL010
MIFTS: 21

Capillary Malformation-Arteriovenous Malformation Syndrome (CMAVM) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Capillary Malformation-Arteriovenous Malformation Syndrome

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Sources:
21Genetics Home Reference, 46OMIM, 32MalaCards
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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. An important gene associated with Capillary Malformation-Arteriovenous Malformation Syndrome is RASA1 (RAS p21 protein activator (GTPase activating protein) 1). Affiliated tissues include heart.

Description from OMIM:46 608354

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
cm-avm:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

capillary malformation-arteriovenous malformation syndrome 42 20 22 21
capillary malformation-arteriovenous malformation 21 46 60
cm-avm 21 48
capillary malformation - arteriovenous malformation 48
cm-avm syndrome 42
cmavm 42


External Ids:

OMIM46 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 malformation10.6

Clinical Features for Capillary Malformation-Arteriovenous Malformation Syndrome

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46OMIM
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Clinical features from OMIM:

608354

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Capillary Malformation-Arteriovenous Malformation Syndrome

Drug clinical trials:

Search ClinicalTrials for Capillary Malformation-Arteriovenous Malformation Syndrome

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation Syndrome

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Capillary Malformation-Arteriovenous Malformation Syndrome:

32
Heart

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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Genetic Variations for Capillary Malformation-Arteriovenous Malformation Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Capillary Malformation-Arteriovenous Malformation Syndrome:

62
id Symbol AA change Variation ID SNP ID
1RASA1p.Cys540TyrVAR_017744

Expression for genes affiliated with Capillary Malformation-Arteriovenous Malformation Syndrome

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet