Capillary Malformations, Congenital (CMC)

Alias:
Familial Multiple Nevi Flammei
Nevi Flammei, Familial Multiple
Familial Multiple Port-Wine Stains
Capillary Malformations
Port-Wine Stain
Cmc
Capillary Malformation
Cmal
Capillary Malformations, Congenital, Type 1, Somatic, Mosaic
Capillary Malformations, Congenital, 1, Somatic, Mosaic
Capillary Malformations, Hereditary
Congenital Capillary Malformations
Hereditary Capillary Malformations
Strawberry Nevus of Skin
Naevus Flammeus
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Capillary Malformations, Congenital, also known as familial multiple nevi flammei, is related to klippel-trenaunay-weber syndrome and sturge-weber syndrome. An important gene associated with Capillary Malformations, Congenital is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Metabolism and Development Endothelin-1/EDNRA transactivation of EGFR. The drugs Captopril and protease inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and endothelial, and related phenotypes are arteriovenous malformation and nevus flammeus
Related ID:
MESH:C535816
ICD11:1410574529

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
18
107
11

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

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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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