telangiectasia, hereditary hemorrhagic, type 1
MONDO:0008535Mondo
Findings
No curated finding names telangiectasia, hereditary hemorrhagic, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Miscarriage · Intermediate young adult onset
HPO, annotations 2026-09-02
Features
18 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.
- HemoptysisHPOHP:0002105
- 1 of 1 reported patient
- Spontaneous, recurrent epistaxisHPOHP:0004406
- 48 of 49 reported patients · Childhood onset
- 13 of 13 reported patients
- 1 of 1 reported patient
- TelangiectasiaHPOHP:0001009
- 1 of 1 reported patient
- Telangiectasia of the skinHPOHP:0100585
- 2 of 2 reported patients
- Hepatic arteriovenous malformationHPOHP:0006574
- 1 of 2 reported patients
- Pulmonary arteriovenous malformationHPOHP:0006548
- 29 of 65 reported patients
- MigraineHPOHP:0002076
- 20 of 49 reported patients
- Restrictive ventilatory defectHPOHP:0002091
- 19 of 126 reported patients
- Reduced FEV1/FVC ratioHPOHP:0030877
- 11 of 126 reported patients
- Cerebral arteriovenous malformationHPOHP:0002408
- 5 of 62 reported patients
- Gastrointestinal hemorrhageHPOHP:0002239
- 1 of 13 reported patients
- Brain abscessHPOHP:0030049
Show the remaining 6
- Chest painHPOHP:0100749
- Exertional dyspneaHPOHP:0002875
- HemothoraxHPOHP:0012151
- HypoxemiaHPOHP:0012418
- Pulmonary arterial hypertensionHPOHP:0002092
- Pulmonary hemorrhageHPOHP:0040223
Genes
3 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
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- GDF2HGNC:4217
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- RASA1HGNC:9871
- No Known Disease Relationship · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
Other names
3 names
Resolves to: telangiectasia, hereditary hemorrhagic, type 1
- Also called
- hereditary hemorrhagic telangiectasia type 1HHT1telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber