retinitis pigmentosa 89
MONDO:0030071Mondo
Findings
No curated finding names retinitis pigmentosa 89 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood 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.
- Bicuspid aortic valveHPOHP:0001647
- 1 of 6 reported patients
- Esophageal varixHPOHP:0002040
- 1 of 6 reported patients · Infantile onset
- Hepatic fibrosisHPOHP:0001395
- 1 of 6 reported patients
- HepatosplenomegalyHPOHP:0001433
- 1 of 6 reported patients
- Intrahepatic bile duct dilatationHPOHP:0033149
- 1 of 6 reported patients
- Micronodular cirrhosisHPOHP:0001413
- 1 of 6 reported patients
- Abnormal light-adapted flicker electroretinogramHPOHP:0030473
- Constriction of peripheral visual fieldHPOHP:0001133
- Hyperautofluorescent retinal lesionHPOHP:0025158
- NyctalopiaHPOHP:0000662
- Postaxial polydactylyHPOHP:0100259
- Retinal thinning on OCTHPOHP:0030329
Show the remaining 1
- Rod-cone dystrophyHPOHP:0000510
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.
- KIF3BHGNC:6320
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: retinitis pigmentosa 89
- Also called
- RP89