posterior column ataxia-retinitis pigmentosa syndrome
Findings
No curated finding names posterior column ataxia-retinitis pigmentosa syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
Definition from the Mondo Disease Ontology (MONDO:0012177), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive
HPO, annotations 2026-09-02
Features
41 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.
- AreflexiaHPOHP:0001284
- 14 of 14 reported patients
- Occasional (5% to 29% of cases)
- Rod-cone dystrophyHPOHP:0000510
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
- Impaired proprioceptionHPOHP:0010831
- 12 of 14 reported patients
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 10 of 14 reported patients · Childhood onset
- Very frequent (80% to 99% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- Very frequent (80% to 99% of cases)
- Abnormal peripheral nerve morphology by anatomical siteHPOHP:0045010
Show the remaining 29
- Pigmentary retinopathyHPOHP:0000580
- Frequent (30% to 79% of cases)
- Spicular pigmentation of the retinaHPOHP:0007737
- Frequent (30% to 79% of cases)
- Visual lossHPOHP:0000572
- Frequent (30% to 79% of cases)
- Abnormal sensory nerve conduction velocityHPOHP:0040132
- Occasional (5% to 29% of cases)
- Abnormal spinal cord morphologyHPOHP:0002143
- Occasional (5% to 29% of cases)
- CamptodactylyHPOHP:0012385
- 1 of 14 reported patients
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.
- FLVCR1HGNC:24682
- Definitive · Illumina · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: posterior column ataxia-retinitis pigmentosa syndrome
- Also called
- ataxia, posterior column, with retinitis pigmentosaautosomal recessive posterior column ataxia and retinitis pigmentosaPCARP