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GTR Home > Conditions/Phenotypes > Telangiectasia, hereditary hemorrhagic, type 2

Telangiectasia, hereditary hemorrhagic, type 2

Synonyms
ACVRL1-Related Hereditary Hemorrhagic Telangiectasia; Osler Weber Rendu syndrome type 2; Telangiectasia, hereditary hemorrhagic, type II

Summary

Excerpted from the GeneReview: Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins. The most common clinical manifestation is spontaneous and recurrent nosebleeds (epistaxis) beginning on average at age 12 years. Telangiectases (small AVMs) are characteristically found on the lips, tongue, buccal and gastrointestinal (GI) mucosa, face, and fingers. The appearance of telangiectases is generally later than epistaxis but may be during childhood. Large AVMs occur most often in the lungs, liver, or brain; complications from bleeding or shunting may be sudden and catastrophic. A minority of individuals with HHT have GI bleeding, which is rarely seen before age 50 years.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Jamie McDonald
David A Stevenson
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Available tests

72 tests are in the database for this condition.

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Clinical tests (72 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I, ACVRL1
    Summary: activin A receptor like type 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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