retinitis pigmentosa 19
MONDO:0011137Mondo
Findings
No curated finding names retinitis pigmentosa 19 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 ABCA4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011137), 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.
- Abnormal electroretinogramHPOHP:0000512
- Constriction of peripheral visual fieldHPOHP:0001133
- NyctalopiaHPOHP:0000662
- Juvenile onset
- Visual impairmentHPOHP:0000505
- Juvenile 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.
- ABCA4HGNC:34
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 19
- Also called
- ABCA4 retinitis pigmentosaretinitis pigmentosa caused by mutation in ABCA4retinitis pigmentosa type 19RP19