hereditary hemorrhagic telangiectasia


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hereditary hemorrhagic telangiectasia

[hə′red·ə‚ter·ē ‚hem·ə′raj·ik tə¦lan·jē·ek′tā·zhə]
(medicine)
An inherited disease characterized by dilatation of groups of capillaries and a tendency to hemorrhage. Also known as Osler-Rendu-Weber disease.
References in periodicals archive ?
Garg N, Khunger M, Gupta A, Kumar N (2014) Optimal management of hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia from molecular biology to patient care.
Patients with hereditary hemorrhagic telangiectasia have increased plasma levels of vascular endothelial growth factor and transforming growth factor-beta1 as well as high ALK1 tissue expression.
Retinal involvement in hereditary hemorrhagic telangiectasia.
McAllister KA, Baldwin MA, Thukkani AK, et al Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment.
Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia.
It has been reported that anywhere from 50% to 90% of pulmonary AVMs are associated with hereditary hemorrhagic telangiectasia (HHT), an unusual autosomal dominant disorder also referred to as Rendu-Osler-Weber syndrome.
Hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations.
Washington, Feb 12 (ANI): A cancer-fighting drug called bevacizumab, also known as Avastin, has offered hope to patients suffering from hereditary hemorrhagic telangiectasia (HHT), an inherited vascular condition characterized by profuse nosebleeds.
Hereditary hemorrhagic telangiectasia (HHT) was chosen as a model disorder with disease-causing variants in 2 genes: ACVRL1 [5] (activin A receptor type II-like 1) on chromosome 12 with 9 exons and ENG [endoglin (Osler-Rendu-Weber syndrome 1)] on chromosome 9 with 15 exons.

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