retinitis pigmentosa 74
MONDO:0014692Mondo
Findings
No curated finding names retinitis pigmentosa 74 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 BBS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014692), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- Reduced visual acuityHPOHP:0007663
- 8 of 8 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 9 of 9 reported patients
- ObesityHPOHP:0001513
- 1 of 9 reported patients
- PolydactylyHPOHP:0010442
- 1 of 9 reported patients
- Abnormal renal morphologyHPOHP:0012210
- 0 of 9 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- Optic disc pallorHPOHP:0000543
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.
- BBS2HGNC:967
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 74
- Also called
- BBS2 retinitis pigmentosaretinitis pigmentosa caused by mutation in BBS2retinitis pigmentosa type 74RP74