Capillary Malformation-Arteriovenous Malformation 1 (CMAVM1)

Alias:
Capillary Malformation-Arteriovenous Malformation
Capillary Malformation-Arteriovenous Malformation Syndrome
Cm-Avm
Cmavm1
Capillary Malformation-Arteriovenous Malformation, Type 1
Cm-Avm Syndrome
Cmavm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Capillary Malformation-Arteriovenous Malformation 1, also known as capillary malformation-arteriovenous malformation, is related to parkes weber syndrome and arteriovenous malformation. An important gene associated with Capillary Malformation-Arteriovenous Malformation 1 is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways are Development EGFR signaling pathway and Development Dopamine D2 receptor transactivation of EGFR. The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are capillary malformation and vascular skin abnormality
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
4
60
59

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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