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GTR Home > Conditions/Phenotypes > Posterior column ataxia-retinitis pigmentosa syndrome

Posterior column ataxia-retinitis pigmentosa syndrome

Synonyms
Posterior column ataxia with retinitis pigmentosa
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Posterior column ataxia with retinitis pigmentosa (AXPC1) is an autosomal recessive neurologic disorder characterized by childhood-onset retinitis pigmentosa and later onset of gait ataxia due to sensory loss (summary by Ishiura et al., 2011). [from OMIM]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (36 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AXPC1, FLVCR, MFSD7B, PCA, PCARP, SLC49A1, FLVCR1
    Summary: FLVCR choline and heme transporter 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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