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Article

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.

Journal of medical genetics - 1 Jul 2003

Abdalla S A, Geisthoff U W, Bonneau D, Plauchu H, McDonald J, Kennedy S, Faughnan M E, Letarte M

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterised by epistaxis, telangiectases, and visceral manifestations. The two known disease types, HHT1 and HHT2, are caused by mutations in the endoglin (ENG) and ALK-1 genes, respectively. A higher frequency of pulmonary arteriovenous malformations (AVMs) has been reported for HHT1 while HHT2 is thought to be associated with a lower...

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Identifiers

PMID: 12843319
DOI: 10.1136/jmg.40.7.494
PMCID: PMC1735537

Genes

ALK
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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