retinitis pigmentosa with or without situs inversus
Findings
No curated finding names retinitis pigmentosa with or without situs inversus 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 ARL2BP gene.
Definition from the Mondo Disease Ontology (MONDO:0014186), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Young adult onset
HPO, annotations 2026-09-02
Features
12 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.
- Decreased nasal nitric oxideHPOHP:0033036
- 1 of 1 reported patient
- Reduced sperm motilityHPOHP:0012207
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 4 of 4 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 4 of 4 reported patients
- Macular atrophyHPOHP:0007401
- 3 of 4 reported patients
- Situs inversus totalisHPOHP:0001696
- 2 of 4 reported patients
- BronchiectasisHPOHP:0002110
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.
- ARL2BPHGNC:17146
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: retinitis pigmentosa with or without situs inversus
- Also called
- ARL2BP retinitis pigmentosaretinitis pigmentosa caused by mutation in ARL2BP