Details of Disease | DrugMAP

General Information of Disease (ID: DIS8OWR2)

Disease Name	Posterior column ataxia-retinitis pigmentosa syndrome
Synonyms	POSTERIOR column ataxia with retinitis pigmentosa; AXPC1; Pcarp; ataxia, posterior column, with retinitis pigmentosa; PCARP; autosomal recessive posterior column ataxia and retinitis pigmentosa
Definition	Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.
Disease Hierarchy	DISX5QI5: FLVCR1-related retinopathy with or without ataxia DIS8OWR2: Posterior column ataxia-retinitis pigmentosa syndrome
Disease Identifiers	MONDO ID MONDO_0012177 UMLS CUI C1836916 OMIM ID 609033 MedGen ID 324636 Orphanet ID 88628 SNOMED CT ID 724065003

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	Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. PLoS Genet. 2016 Dec 6;12(12):e1006461. doi: 10.1371/journal.pgen.1006461. eCollection 2016 Dec.