retinitis pigmentosa 72
MONDO:0014653Mondo
Findings
No curated finding names retinitis pigmentosa 72 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene.
Definition from the Mondo Disease Ontology (MONDO:0014653), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult 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.
- Attenuation of retinal blood vesselsHPOHP:0007843
- 3 of 3 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 3 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 3 of 3 reported patients
- Posterior subcapsular cataractHPOHP:0007787
- 3 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
- Rod-cone dystrophyHPO
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.
- ZNF408HGNC:20041
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: retinitis pigmentosa 72
- Also called
- retinitis pigmentosa caused by mutation in ZNF408retinitis pigmentosa type 72RP72ZNF408 retinitis pigmentosa