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 |
|---|
| 2004 | 0 | 1 | 1 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2022 | 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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Gheewalla GM, Luther J, Das S, Kreher JB, Scimone ER, Wong AW, Lindsay ME, Lin AE. An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes. Am J Med Genet A. 2022 Oct; 188(10):3084-3088.
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Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P. Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. J Med Genet. 2018 12; 55(12):824-830.
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Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A. 2013 Jan; 161A(1):185-91.
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Rodgers SK, DeMauro C. Case 3: Diagnosis: hereditary hemorrhagic telangiectasia. Ultrasound Q. 2007 Mar; 23(1):70-3.
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Chung DY, Federle MP, Barrett JP, Sass DA. Hepatic hereditary hemorrhagic telangiectasia. Clin Gastroenterol Hepatol. 2006 Nov; 4(11):xx.
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Jabbour P, Gault J, Awad IA. What genes can teach us about human cerebrovascular malformations. Clin Neurosurg. 2004; 51:140-52.