hereditary hemorrhagic telangiectasia
genetic disorder involving capillaries
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Summary
hereditary hemorrhagic telangiectasia is a designated intractable/rare disease[1]. It draws 2,622 Wikipedia views per month (designated intractable rare disease category, ranking #91 of 201).[2]
Key Facts
- Instance of: rare disease[3], class of disease[4]
- Named after: William Osler[5], Henri Jules Louis Marie Rendu[6], Frederick Parkes Weber[7]
- Subclass of: autosomal dominant disease[8], vascular disease[9]
- Commons category: Hereditary hemorrhagic telangiectasia[10]
- Prevalence: 0.0003[11]
- Mode of inheritance: autosomal dominant[12]
- External data available at URL: http://www.nanbyou.or.jp/entry/4351[13]
- ICD-9-CM: 448.0[14]
- NCI Thesaurus ID: C35064[15]
- Health specialty: medical genetics[16]
- Genetic association: SMAD4[17], ENG[18], ACVRL1[19], GDF2[20]
- Age of onset: any age[21]
- Exact match: http://purl.obolibrary.org/obo/DOID_1270[22], http://identifiers.org/doid/DOID:1270[23], http://www.orpha.net/ORDO/Orphanet_774[24]
- On focus list of Wikimedia project: WikiProject Medicine[25]
- Has phenotype: nosebleed[26], portal hypertension[27], pulmonary arteriovenous malformations[28], arterial pulmonary hypertension[29]
- P14914: D00774[30]
Why It Matters
hereditary hemorrhagic telangiectasia has Wikipedia articles in 19 language editions, a strong signal of global cultural recognition.[31] It is known by 39 alternative names across languages and contexts.[32]