CMAVM
MCID: CPL010
MIFTS: 27

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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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 based summary: Capillary Malformation-Arteriovenous Malformation Syndrome, also known as capillary malformation-arteriovenous malformation, is related to arteriovenous malformation and cerebral hemorrhage, and has symptoms including 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, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet
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Capillary Malformation-Arteriovenous Malformation Syndrome, Aliases & Descriptions:

Name: Capillary Malformation-Arteriovenous Malformation Syndrome 42 20 22 21
Capillary Malformation-Arteriovenous Malformation 21 46 62
Cm-Avm 21 48 62
 
Capillary Malformation - Arteriovenous Malformation 48
Cm-Avm Syndrome 42
Cmavm 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 608354
ICD10 via Orphanet26 Q27.3

Related Diseases for Capillary Malformation-Arteriovenous Malformation Syndrome

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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 malformation10.8
2cerebral hemorrhage10.3
3cerebritis10.3
4hypotrichosis10.3

Symptoms for Capillary Malformation-Arteriovenous Malformation Syndrome

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Clinical features from OMIM:

608354

HPO human phenotypes related to Capillary Malformation-Arteriovenous Malformation Syndrome:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 capillary hemangiomas HP:0005306

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation Syndrome

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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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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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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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Articles related to Capillary Malformation-Arteriovenous Malformation Syndrome:

idTitleAuthorsYear
1
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome. (25059281)
2014
2
Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study. (25040287)
2014
3
Capillary Malformation-Arteriovenous Malformation Syndrome with Spinal Involvement. (25040073)
2014
4
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. (23933248)
2013
5
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. (23829194)
2013
6
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. (23662773)
2013
7
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. (23158644)
2012
8
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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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet