MCID: CPL007
MIFTS: 34

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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Aliases & Descriptions for Capillary Malformation-Arteriovenous Malformation:

Name: Capillary Malformation-Arteriovenous Malformation 49 11 23 65 67
Capillary Malformation-Arteriovenous Malformation Syndrome 45 22 23
Capillary Malformation - Arteriovenous Malformation 51 24
 
Cm-Avm Syndrome 45 22
Cm-Avm 23 51
Cmavm 45 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
capillary malformation - arteriovenous malformation:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 608354
Orphanet51 137667
ICD10 via Orphanet28 Q27.3
MeSH36 D054079

Summaries for Capillary Malformation-Arteriovenous Malformation

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Genetics Home Reference:23 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 inheritance, capillary hemangiomas and arteriovenous malformation. An important gene associated with Capillary Malformation-Arteriovenous Malformation is RASA1 (RAS P21 Protein Activator (GTPase Activating Protein) 1). Affiliated tissues include heart.

UniProtKB/Swiss-Prot:67 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.

Description from OMIM:49 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 malformation10.9
2cerebral hemorrhage10.3
3cerebritis10.3
4hypotrichosis10.3
5hydrops fetalis10.3
6non-immune hydrops fetalis10.3
7immune hydrops fetalis10.3
8capillary malformation-arteriovenous malformation9.8RASA1, RGS6
9basal cell carcinoma 19.8RASA1, RGS6
10parkes weber syndrome9.7RASA1, RGS6

Graphical network of diseases related to Capillary Malformation-Arteriovenous Malformation:



Diseases related to capillary malformation-arteriovenous malformation

Symptoms for Capillary Malformation-Arteriovenous Malformation

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Symptoms by clinical synopsis from OMIM:

608354

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
3 arteriovenous malformation HP:0100026

Drugs & Therapeutics for Capillary Malformation-Arteriovenous Malformation

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Drugs for Capillary Malformation-Arteriovenous Malformation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1GTPase-Activating Proteins1

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pseudomonal Type Three Secretion System and Contact Lens Associated Microbial KeratitisRecruitingNCT01925846
2French National Cohort of Children With Port Wine StainActive, not recruitingNCT01364857

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 Syndrome22 RASA1
2 Capillary Malformation-Arteriovenous Malformation24

Anatomical Context for Capillary Malformation-Arteriovenous Malformation

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

33
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 14)
idTitleAuthorsYear
1
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. (26096958)
2015
2
Blood Vascular Abnormalities in Rasa1 R780Q Knockin Mice: Implications for the Pathogenesis of Capillary Malformation-Arteriovenous Malformation. (25283357)
2014
3
Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome. (25059281)
2014
4
Clinical Spectrum of Capillary Malformation-Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study. (25040287)
2014
5
Capillary Malformation-Arteriovenous Malformation Syndrome with Spinal Involvement. (25040073)
2014
6
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. (24038909)
2013
7
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy. (23687085)
2013
8
Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management. (23933248)
2013
9
Histopathologic and Ultrasound Characteristics of Cutaneous Capillary Malformations in a Patient with Capillary Malformation-Arteriovenous Malformation Syndrome. (23829194)
2013
10
Capillary malformation-arteriovenous malformation: a clinical review of 45 patients. (24168113)
2013
11
Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. (23662773)
2013
12
Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation. (23158644)
2012
13
The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage. (21129558)
2010
14
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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RASA1NM_002890.2(RASA1): c.475_476delCT (p.Leu159Glyfs)deletionPathogenicrs797044451GRCh37Chr 5, 86564743: 86564744
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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GO Terms for genes affiliated with Capillary Malformation-Arteriovenous Malformation

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Biological processes related to Capillary Malformation-Arteriovenous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intracellular signal transductionGO:00355569.1RASA1, RGS6
2positive regulation of GTPase activityGO:00435478.8RASA1, RGS6

Molecular functions related to Capillary Malformation-Arteriovenous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GTPase activator activityGO:00050969.1RASA1, RGS6

Sources for Capillary Malformation-Arteriovenous Malformation

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet