myopia 25, autosomal dominant
Findings
No curated finding names myopia 25, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014982), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
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.
- High myopiaHPOHP:0011003
- 6 of 6 reported patients
- Retinal detachmentHPOHP:0000541
- 1 of 9 reported patients · Late onset
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.
- P4HA2HGNC:8547
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: myopia 25, autosomal dominant
- Also called
- myopia (disease) caused by mutation in P4HA2myopia 25, autosomal dominant; MYP25MYP25P4HA2 myopia (disease)