Application | Comment | Organism |
---|---|---|
diagnostics | next to the Curaçao criteria, genetic analysis contributes as an essential tool to a reliable diagnosis of clinically affected hereditary hemorrhagic telangiectasia patients and clinically unsymptomatic hereditary hemorrhagic telangiectasia patients, thus helping to take early preventive measures even before the occurrence of first clinical symptoms, the PCR-SSP technique can facilitate this high task of genetic analysis in routine hereditary hemorrhagic telangiectasia diagnostics and underlines the importance of using molecular diagnosis for early identification of individuals carrying mutations and being at risk of vascular complications | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P37023 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | from patients of German origin with tentative diagnosis of hereditary hemorrhagic telangiectasia | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
activin receptor-like kinase 1 | - |
Homo sapiens |
ACVRL1 | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) is an autosomal dominant disorder which is clinically characterised by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations, genetic linkage studies identify 2 genes primarily related to hereditary hemorrhagic telangiectasia: endoglin and activin receptor-like kinase 1, 10 different ACVRL1 mutations can be identified in 12 out of 41 hereditary hemorrhagic telangiectasia patients, including 2 deletions, 2 insertions, 1 splice site mutation and 5 missense mutations | Homo sapiens |