HHT1

[hereditary hemorrhagic telangiectasia type 1] This autosomal dominant vascular disorder is one of the clinical forms of hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber syndrome (abbr. ORW; also: Rendu-Osler-Weber syndrome), an autosomal dominant vascular disease (angiodysplasia) that is associated with epistaxis, mucocutaneous and gastrointestinal telangiectases, and arteriovenous malformations (Shovlin et al, 2010).

The particular type 1 clinical entity (ORW1) has been linked to mutations in the gene encoding endoglin (Lenato and Guanti, 2006). Other clinically indistinguishable manifestations of the disease are caused by mutations in another gene encoding a protein related to Activin A receptor type 2 (see: ACVRL1 [ ... ... ... ...
 
... CONTINUE READING at cells-talk.com, COPE's new home with 61 100+ entries, 141 552 cited references and >2,5 million internal hyperlinks. This most comprehensive knowledge base provides extensive in-context information covering nomenclature, terminology, and highlighting concepts, strategies & complexities of cellular communication processes. COPE's fully integrated subdictionaries include Dictionary of Angiogenesis • Dictionary of Antimicrobial & host defense peptides • Dictionary of Apoptosis and cell death • Dictionary of CD antigens • Dictionary of Chemokines • Dictionary of Cryptides • Dictionary of Cytokines & Growth factors • Dictionary of Eukaryotic cell types & expression profiles • Dictionary of Hematopoiesis • Dictionary of Hormones • Dictionary of Inflamation & inflammatory mediators • Dictionary of Innate Immunity • Dictionary of Metalloproteinases • Dictionary of Moonlighting proteins & cryptides • Dictionary of Neuropeptides • Dictionary of Pathogenicity & Virulence Factors • Dictionary of Pattern recognition receptors • Dictionary of Protein domains • Dictionary of Regulatory peptide factors • Dictionary of Viroceptors • Dictionary of Virokines • Dictionary of Stem cells and more.
 
An important note about your privacy: A search engine may have brought you here. If the provided URL differs in any way from "www.copewithcytokines.org/cope.cgi?key=search term", 3rd parties may record your activities on COPE. Bypass snoopers by doing this: Go directly to cells-talk.com or go to copewithcytokines.org in a new browser tab and from there explore whether COPE contains the terms that interest you. The private bioinformatics initiative COPE at cells-talk.com never shares your search histories or user databank entry with 3rd parties.

Copyright © 1997-2025. All rights reserved by Dr H Ibelgaufts, the sole author/owner/maintainer of the COPE Knowledge Base. EXPLICITLY: COPE's contents are strictly for the personal use of subscribers. They aren't in the public-domain and may not be reproduced elsewhere or transmitted in any form!

Entry last modified: February 2008