hereditary hemorrhagic telangiectasia

Summary
Synonym
  • Osler hemorrhagic telangiectasia syndrome
  • Osler-Weber-Rendu disease
  • Rendu-Osler-Weber disease
Definition
A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Super Class
autosomal dominant disease vascular disease
External Links
Related Genes
Displaying entries 1 - 10 of 20 in total
Gene ID Gene Symbol Description Source
1048 CEACAM5 CEA cell adhesion molecule 5
1636 ACE angiotensin I converting enzyme
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
5728 PTEN phosphatase and tensin homolog
6401 SELE selectin E
6888 TALDO1 transaldolase 1
7124 TNF tumor necrosis factor
Displaying all 2 entries
Gene ID Gene Symbol Description Source
12165 Gdf2 growth differentiation factor 2
21926 Tnf tumor necrosis factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor

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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