age related macular degeneration 1
Findings
No curated finding names age related macular degeneration 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.
Definition from the Mondo Disease Ontology (MONDO:0011285), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late 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.
- Macular drusenHPOHP:0030499
- Late onset
- 10 of 10 reported patients
- Macular degenerationHPOHP:0000608
- 18 of 20 reported patients
- Macular geographic atrophyHPOHP:0031609
- Late onset
- 5 of 10 reported patients
- Progressive visual lossHPOHP:0000529
- Late onset
Genes
2 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.
- CFHR1HGNC:4888
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- HMCN1HGNC:19194
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: age related macular degeneration 1
- Also called
- age related macular degeneration type 1ARMD1macular degeneration, age-related, reduced risk ofmacular Degeneration, age-related, type 1