Posterior column ataxia with retinitis pigmentosa

Preferred Label : Posterior column ataxia with retinitis pigmentosa;

Symbol : AXPC1;

CISMeF acronym : AXPC1; PCARP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PCARP;

Description : Posterior column ataxia with retinitis pigmentosa 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the feline leukemia virus subgroup C receptor 1 gene (FLVCR1, 609144.0001);

Prefixed ID : #609033;

Details

Origin ID

609033;

UMLS CUI

C1836916;

Currated CISMeF NLP mapping
- Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) [SNOMED CT concept]
- Posterior column ataxia with retinitis pigmentosa [MeSH concept]
- Posterior column ataxia-retinitis pigmentosa syndrome [ORDO Disease]
- posterior column ataxia with retinitis pigmentosa [MeSH Supplementary Concept]
Genes related to phenotype
- Flvcr heme transporter 1 [OMIM gene]
HPO term(s)
- Absence of sensory nerve conduction velocities [HPO term]
- Achalasia [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Broad-based gait [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Childhood onset [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Delayed ability to walk [HPO term]
- Distal muscle weakness [HPO term]
- Flexion contracture of finger [HPO term]
- Fundus with peripheral 'bony spicules' [HPO term]
- Hyperintensity of MRI T2 signal of the spinal cord [HPO term]
- Impaired proprioception [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Neurogenic muscle atrophy [HPO term]
- No light-evoked response on electroretinogram [HPO term]
- Nyctalopia [HPO term]
- Optic atrophy [HPO term]
- Peripheral demyelination [HPO term]
- Pigmentary retinopathy [HPO term]
- Positive Romberg sign [HPO term]
- Recurrent urinary tract infections [HPO term]
- Ring scotoma [HPO term]
- Rod-cone dystrophy [HPO term]
- Scoliosis [HPO term]
- Sensory ataxia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Undetectable electroretinogram [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Posterior column ataxia-retinitis pigmentosa syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) [SNOMED CT concept]
- Posterior column ataxia with retinitis pigmentosa [MeSH concept]
- Posterior column ataxia-retinitis pigmentosa syndrome [ORDO Disease]
- posterior column ataxia with retinitis pigmentosa [MeSH Supplementary Concept]

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