retinal arterial tortuosity
MONDO:0008373Mondo
Findings
No curated finding names retinal arterial tortuosity 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
- Adult onset
HPO, annotations 2026-09-02
Features
4 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.
- Retinal arteriolar tortuosityHPOHP:0001136
- 3 of 3 reported patients
- Retinal hemorrhageHPOHP:0000573
- 2 of 3 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 3 reported patients
- Visual lossHPOHP:0000572
- 0 of 3 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.
- COL4A1HGNC:2202
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: retinal arterial tortuosity
- Also called
- retinal arterial tortuosity (disease)retinal arteriolar tortuosityretinal haemorrhage with vascular tortuosityretinal hemorrhage with vascular tortuositytortuosity of retinal arteries