macular degeneration, age-related, 3
Findings
No curated finding names macular degeneration, age-related, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.
Definition from the Mondo Disease Ontology (MONDO:0012145), read 2026-09-29. CC BY 4.0.
- Onset and course
- Late onset · Middle age onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Peripheral axonal neuropathyHPOHP:0003477
- 18 of 18 reported patients
- Distal amyotrophyHPOHP:0003693
- 18 of 22 reported patients
- Distal muscle weaknessHPOHP:0002460
- 18 of 22 reported patients
- Distal sensory impairmentHPOHP:0002936
- Very frequent (80% to 99% of cases)
- Decreased patellar reflexHPOHP:0011808
- 18 of 23 reported patients
- Macular degenerationHPOHP:0000608
- 9 of 19 reported patients · Late onset
- Hyperextensible skin
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.
- FBLN5HGNC:3602
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: macular degeneration, age-related, 3
- Also called
- age-related macular degeneration caused by mutation in FBLN5FBLN5 age-related macular degenerationmacular Degeneration, age-related, type 3