Telangiectasia, Hereditary Hemorrhagic
"Telangiectasia, Hereditary Hemorrhagic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
| Descriptor ID |
D013683
|
| MeSH Number(s) |
C14.907.454.900 C14.907.823.780 C15.378.463.515.900 C16.131.240.850.968
|
| Concept/Terms |
Telangiectasia, Hereditary Hemorrhagic- Telangiectasia, Hereditary Hemorrhagic
- Hemorrhagic Telangiectasia, Hereditary
- Rendu-Osler-Weber
- Rendu Osler Weber
- Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
- Telangiectasia, Hereditary Hemorrhagic, Type 1
- Osler-Rendu Disease
- Osler Rendu Disease
- Osler-Rendu-Weber Disease
- Osler Rendu Weber Disease
- Hereditary Hemorrhagic Telangiectasia
- Osler's Disease
- Disease, Osler's
- Osler Disease
- Osler-Weber-Rendu Syndrome
- Osler Weber Rendu Syndrome
- Weber-Osler
- Weber Osler
|
Below are MeSH descriptors whose meaning is more general than "Telangiectasia, Hereditary Hemorrhagic".
Below are MeSH descriptors whose meaning is more specific than "Telangiectasia, Hereditary Hemorrhagic".
This graph shows the total number of publications written about "Telangiectasia, Hereditary Hemorrhagic" by people in this website by year, and whether "Telangiectasia, Hereditary Hemorrhagic" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 2 | 0 | 2 |
| 1998 | 1 | 0 | 1 |
| 2005 | 0 | 1 | 1 |
| 2007 | 2 | 0 | 2 |
| 2023 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Telangiectasia, Hereditary Hemorrhagic" by people in Profiles.
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Hereditary hemorrhagic telangiectasia - pediatric review. Curr Opin Pediatr. 2024 Dec 01; 36(6):592-598.
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Thrombosis in hereditary hemorrhagic telangiectasia. J Thromb Haemost. 2023 01; 21(1):18-20.
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Syncope in a Child with Pulmonary Hypertension and Positive Gene Tests for Hereditary Hemorrhagic Telangiectasia and Long QT Syndrome. Cardiovasc Hematol Agents Med Chem. 2020; 18(1):70-76.
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PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia. Nat Commun. 2016 11 29; 7:13650.
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[Cutis marmorata telangiectatica congenita--case report]. Orv Hetil. 2007 Sep 09; 148(36):1717-20.
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Long-term outcome in a patient with pulmonary hypertension and hereditary hemorrhagic telangiectasia. Chest. 2007 Apr; 131(4):984-7.
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Munchausen syndrome by proxy: a case report. AACN Clin Issues. 2005 Apr-Jun; 16(2):178-84.
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Rendu Osler Weber syndrome with bilateral, multiple and diffuse pulmonary Arterio-Venous malformations. Indian J Pediatr. 2004 Dec; 71(12):e68-70.
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Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat. 1998; 11(4):286-94.
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Pulmonary arteriovenous malformation. AJR Am J Roentgenol. 1996 Sep; 167(3):648.