isolated microphthalmia 6
Findings
No curated finding names isolated microphthalmia 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. This disease includes cases diagnosed as microphthalmos (specifically as posterior microphthalmos) and nanophthalmos.
Definition from the Mondo Disease Ontology (MONDO:0013293), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- High hypermetropiaHPOHP:0008499
- 9 of 9 reported patients
- MicrophthalmiaHPOHP:0000568
- 9 of 9 reported patients
- Ocular hypertensionHPOHP:0007906
- 3 of 9 reported patients
- AmblyopiaHPOHP:0000646
- 2 of 9 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.
- PRSS56HGNC:39433
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: isolated microphthalmia 6
- Also called
- isolated microphthalmia caused by mutation in PRSS56isolated microphthalmia type 6MCOP6microphthalmia, isolated type 6PRSS56 isolated microphthalmiaPRSS56-related nanophthalmos