Literature summary for 2.7.11.30 extracted from

Haneen, S.; Johanna, H.; Ulrich, G.; Jens, S.S.; Frank, R.; Karl, H.; Peter, B.
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique (2009), BMC Med. Genet., 10, 53.

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Application

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

Organism	UniProt	Comment	Textmining
Homo sapiens	P37023	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	from patients of German origin with tentative diagnosis of hereditary hemorrhagic telangiectasia	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
activin receptor-like kinase 1	-	Homo sapiens
ACVRL1	-	Homo sapiens

General Information

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

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Release 2023.1 (January 2023)