familial multiple nevi flammei

Summary
Synonym
  • CMC
  • congenital capillary malformations
  • familial multiple port-wine stains
Definition
A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover.
Super Class
capillary disease
External Links
Disease Ontology
DOID:0111529
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
3383 ICAM1 intercellular adhesion molecule 1
3820 KLRB1 killer cell lectin like receptor B1
4099 MAG myelin associated glycoprotein
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024