isolated microphthalmia 5
Findings
No curated finding names isolated microphthalmia 5 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 MFRP gene.
Definition from the Mondo Disease Ontology (MONDO:0012605), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
13 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.
- Abnormal light- and dark-adapted electroretinogramHPOHP:0008323
- 4 of 4 reported patients
- FoveoschisisHPOHP:0012152
- 4 of 4 reported patients
- High hypermetropiaHPOHP:0008499
- 4 of 4 reported patients
- MicrophthalmiaHPOHP:0000568
- 4 of 4 reported patients
- NyctalopiaHPOHP:0000662
- 4 of 4 reported patients
- Optic disc drusenHPOHP:0012426
- 4 of 4 reported patients
- Optic disc pallorHPOHP:0000543
Show the remaining 1
- Cystoid macular edemaHPOHP:0011505
- 0 of 4 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.
- MFRPHGNC:18121
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: isolated microphthalmia 5
- Also called
- isolated microphthalmia caused by mutation in MFRPisolated microphthalmia type 5MCOP5MFRP isolated microphthalmiamicrophthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndromemicrophthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndromemicrophthalmia, isolated type 5Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndromeNanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndromeposterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen