Posterior Column Ataxia with Retinitis Pigmentosa (AXPC1)

Alias:
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pcarp
Ataxia, Posterior Column, with Retinitis Pigmentosa
Autosomal Recessive Posterior Column Ataxia and Retinitis Pigmentosa
Axpc1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Posterior Column Ataxia with Retinitis Pigmentosa, also known as posterior column ataxia-retinitis pigmentosa syndrome, is related to posterior column ataxia and retinitis pigmentosa, and has symptoms including ataxia, ataxia, sensory and loss of proprioception. An important gene associated with Posterior Column Ataxia with Retinitis Pigmentosa is FLVCR1 (FLVCR Choline And Heme Transporter 1). Affiliated tissues include spinal cord and eye, and related phenotypes are ataxia and impaired proprioception
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
6
12

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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