telangiectasia, hereditary hemorrhagic, type 2
Findings
No curated finding names telangiectasia, hereditary hemorrhagic, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010880), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Spontaneous, recurrent epistaxisHPOHP:0004406
- 10 of 10 reported patients · Childhood onset
- Facial telangiectasiaHPOHP:0007380
- 8 of 10 reported patients
- Palmar telangiectasiaHPOHP:0100869
- 8 of 10 reported patients
- Oral cavity telangiectasiaHPOHP:0000228
- 6 of 10 reported patients
- MelenaHPOHP:0002249
- 3 of 10 reported patients
Genes
1 gene
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.
- ACVRL1HGNC:175
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: telangiectasia, hereditary hemorrhagic, type 2
- Also called
- ACVRL1 hereditary hemorrhagic telangiectasiahereditary hemorrhagic telangiectasia caused by mutation in ACVRL1