Details of Disease | DrugMAP

General Information of Disease (ID: DISX5QI5)

Disease Name	FLVCR1-related retinopathy with or without ataxia
Synonyms	AXPC1; ataxia, posterior column, with retinitis pigmentosa; PCARP; posterior column ataxia with retinitis pigmentosa; posterior column ataxia-retinitis pigmentosa syndrome; autosomal recessive posterior column ataxia and retinitis pigmentosa; FLVCR1 retinopathy with or without ataxia
Definition	A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
Disease Hierarchy	DISY8J7U: Autosomal recessive degenerative and progressive cerebellar ataxia DISGGL77: Inherited retinal dystrophy DISX5QI5: FLVCR1-related retinopathy with or without ataxia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
FLVCR1	DTH6X7Q	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLVCR1	OT9XCFOC	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.