familial retinal arterial macroaneurysm
MONDO:0013640Mondo
Findings
No curated finding names familial retinal arterial macroaneurysm yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Pulmonic stenosisHPOHP:0001642
- 13 of 13 reported patients
- Retinal arteriolar macroaneurysmsHPOHP:0025355
- 22 of 22 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.
- IGFBP7HGNC:5476
- Strong · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: familial retinal arterial macroaneurysm
- Also called
- FRAMretinal arterial macroaneurysm and supravalvular pulmonic stenosis