MCID: CPL007
MIFTS: 26

Capillary Malformation-Arteriovenous Malformation malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Capillary Malformation-Arteriovenous Malformation

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Capillary Malformation-Arteriovenous Malformation, Aliases & Descriptions:

Name: Capillary Malformation-Arteriovenous Malformation 45 10 21 60
Capillary Malformation-Arteriovenous Malformation Syndrome 41 20 21
Capillary Malformation - Arteriovenous Malformation 47 22
 
Cm-Avm 21 47
Cm-Avm Syndrome 41
Cmavm 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
capillary malformation - arteriovenous malformation:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 608354
Orphanet47 137667
ICD10 via Orphanet26 Q27.3

Summaries for Capillary Malformation-Arteriovenous Malformation

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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, also known as capillary malformation-arteriovenous malformation syndrome, is related to arteriovenous malformation and cerebral hemorrhage, and has symptoms including autosomal dominant inheritanceand capillary hemangiomas. An important gene associated with Capillary Malformation-Arteriovenous Malformation is RASA1 (RAS p21 protein activator (GTPase activating protein) 1). Affiliated tissues include heart.

Description from OMIM:45 608354

Related Diseases for Capillary Malformation-Arteriovenous Malformation

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

idRelated DiseaseScoreTop Affiliating Genes
1arteriovenous malformation10.8
2cerebral hemorrhage10.3
3cerebritis10.3

Symptoms for Capillary Malformation-Arteriovenous Malformation

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Clinical features from OMIM:

608354

HPO human phenotypes related to Capillary Malformation-Arteriovenous Malformation:

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

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation

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Drug clinical trials:

Search ClinicalTrials for Capillary Malformation-Arteriovenous Malformation

Search NIH Clinical Center for Capillary Malformation-Arteriovenous Malformation

Genetic Tests for Capillary Malformation-Arteriovenous Malformation

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Genetic tests related to Capillary Malformation-Arteriovenous Malformation:

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

Anatomical Context for Capillary Malformation-Arteriovenous Malformation

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

31
Heart

Animal Models for Capillary Malformation-Arteriovenous Malformation or affiliated genes

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Publications for Capillary Malformation-Arteriovenous Malformation

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Articles related to Capillary Malformation-Arteriovenous Malformation:

(show all 12)
idTitleAuthorsYear
1
Blood Vascular Abnormalities in Rasa1 R780Q Knockin Mice: Implications for the Pathogenesis of Capillary Malformation-Arteriovenous Malformation. (25283357)
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
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. (24038909)
2013
5
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. (23687085)
2013
6
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. (23933248)
2013
7
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. (23829194)
2013
8
Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. (24168113)
2013
9
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. (23662773)
2013
10
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. (23158644)
2012
11
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. (21129558)
2010
12
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. (14639529)
2003

Variations for Capillary Malformation-Arteriovenous Malformation

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

62
id Symbol AA change Variation ID SNP ID
1RASA1p.Cys540TyrVAR_017744
2RASA1p.Tyr528CysVAR_072088
3RASA1p.Val530AspVAR_072089
4RASA1p.Ala626GluVAR_072090
5RASA1p.Glu763ValVAR_072091

Clinvar genetic disease variations for Capillary Malformation-Arteriovenous Malformation:

6
id Gene Variation 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

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

Pathways for genes affiliated with Capillary Malformation-Arteriovenous Malformation

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Compounds for genes affiliated with Capillary Malformation-Arteriovenous Malformation

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GO Terms for genes affiliated with Capillary Malformation-Arteriovenous Malformation

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Products for genes affiliated with Capillary Malformation-Arteriovenous Malformation

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Capillary Malformation-Arteriovenous Malformation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet