hereditary hemorrhagic telangiectasia
Findings
No curated finding names hereditary hemorrhagic telangiectasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
Definition from the Mondo Disease Ontology (MONDO:0019180), read 2026-09-29. CC BY 4.0.
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EpistaxisHPOHP:0000421
- Very frequent (80% to 99% of cases)
- Lip telangiectasiaHPOHP:0000214
- Very frequent (80% to 99% of cases)
- Mucosal telangiectasiaeHPOHP:0100579
- Very frequent (80% to 99% of cases)
- Nasal mucosa telangiectasiaHPOHP:0000434
- Very frequent (80% to 99% of cases)
- Spontaneous, recurrent epistaxisHPOHP:0004406
- Very frequent (80% to 99% of cases)
- TelangiectasiaHPOHP:0001009
- Very frequent (80% to 99% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Very frequent (80% to 99% of cases)
- Tongue telangiectasiaHPOHP:0000227
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system physiologyHPOHP:0011025
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- Arteriovenous malformationHPOHP:0100026
- Frequent (30% to 79% of cases)
- Hepatic arteriovenous malformationHPOHP:0006574
- Frequent (30% to 79% of cases)
Show the remaining 24
- MigraineHPOHP:0002076
- Frequent (30% to 79% of cases)
- Portal hypertensionHPOHP:0001409
- Frequent (30% to 79% of cases)
- Pulmonary arteriovenous malformationHPOHP:0006548
- Frequent (30% to 79% of cases)
- Visceral angiomatosisHPOHP:0100761
- Frequent (30% to 79% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Occasional (5% to 29% of cases)
- Cerebral arteriovenous malformationHPOHP:0002408
- Occasional (5% to 29% of cases)
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ENGHGNC:3349
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- ACVRL1HGNC:175
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2025
- GDF2HGNC:4217
- Supportive · Orphanet · Autosomal dominant · 2021
- SMAD4HGNC:6770
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: hereditary hemorrhagic telangiectasia
- Also called
- HHTOsler-Weber-Rendu diseaseRendu-Osler diseaseRendu-Osler-Weber diseasetelangiectasia, hereditary Hemorrahagic, of Rendu, Oslertelangiectasia, hereditary hemorrhagic