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GENATLAS PHENOTYPE

last update : 01-12-2010

Symbol	AXPC1
Location	1q31-q32.3
HGNC id	906
Name	ataxia, posterior column with retinitis pigmentosa
Other name(s)	posterior column ataxia with retinitis pigmentosa
Corresponding gene	FLVCR1
Other symbol(s)	PCA, PCARP
Main clinical features	onset in childhood, with concentric contraction of the visual fields and proprioceptive loss, by the third decade, blindness, with severe sensory ataxia, achalasia, scoliosis, and inanition (weakness and wasting), sensory nerve conduction velocities were absent, and MRI showed hyperintense signals in the spinal cord sensory ganglionopathy causing a harmonious degeneration of central and peripheral axons without evidence of primary demyelination (PMID: 21070897))
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
Type	disease

Remark(s)