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posterior column ataxia-retinitis pigmentosa syndrome (PCARP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

posterior column ataxia-retinitis pigmentosa syndrome

MONDO:0012177

Also known as:PCARPataxia, posterior column, with retinitis pigmentosaautosomal recessive posterior column ataxia and retinitis pigmentosa

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Overview

Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.

GeneticsAutosomal recessive · FLVCR1 (chr 1)

OnsetCHILDHOOD, ADULT

Clinical Trials1 registered

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Rod-cone dystrophy and Areflexia; and very common findings: Impaired proprioception. 31 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Distal muscle weakness, Flexion contracture of finger, Skeletal muscle atrophy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FLVCR1 encodes FLVCR choline and heme transporter 1 (555 aa). Uniporter that mediates the transport of extracellular choline and ethanolamine into cells, thereby playing a key role in phospholipid biosynthesis. Highest expression in Cells EBV-transformed lymphocytes (16.6 TPM) and Pituitary (14.5 TPM).

Posterior column ataxia-retinitis pigmentosa syndrome is associated with mutations in the FLVCR1 gene on chromosome 1.

The FLVCR1 protein participates in FLVCR1-1 transports heme from cytosol to extracellular region and FLVCR1-2 transports heme from mitochondrial matrix to cytosol pathways.

FLVCR1 is classified as a druggable target (Druggable Genome and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for FLVCR1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for posterior column ataxia-retinitis pigmentosa syndrome. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (33%), and Epidemiology / Natural History (17%).

Recent Publications

Bertino F (2026). [PMID: 41691085](https://pubmed.ncbi.nlm.nih.gov/41691085/). *Commun Biol*. [Basic Science / Preclinical]
Nakano Y (2025). [PMID: 41328533](https://pubmed.ncbi.nlm.nih.gov/41328533/). *J Peripher Nerv Syst*. [Case Report / Case Series]
Ri K (2024). [PMID: 38778100](https://pubmed.ncbi.nlm.nih.gov/38778100/). *Nature*. [Basic Science / Preclinical]
Son Y (2024). [PMID: 38693265](https://pubmed.ncbi.nlm.nih.gov/38693265/). *Nature*. [Basic Science / Preclinical]
Lopez-de la Rosa A (2024). [PMID: 38872169](https://pubmed.ncbi.nlm.nih.gov/38872169/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609033

Orphanet

European rare disease database

Orphanet:88628

GARD

Genetic and Rare Diseases Info Center

GARD:9898

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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posterior column ataxia-retinitis pigmentosa syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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