Posterior column ataxia - retinitis pigmentosa

General Information (adopted from Orphanet):

Synonyms, Signs: PCARP
AXPC1
Autosomal recessive posterior column ataxia and retinitis pigmentosa
Number of Symptoms 37
OrphanetNr: 88628
OMIM Id: 609033
ICD-10: G11.1
H35.5
UMLs: C1836916
MeSH: C536343
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive degenerative and progressive cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
2
 (HPO:0000020) Urinary incontinence 75 / 7739
3
 (HPO:0007737) Bone spicule pigmentation of the retina 26 / 7739
4
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
5
 (HPO:0000618) Blindness 124 / 7739
6
 (HPO:0000662) Nyctalopia 92 / 7739
7
 (HPO:0000550) Undetectable electroretinogram 25 / 7739
8
 (HPO:0000575) Scotoma 11 / 7739
9
 (HPO:0000648) Optic atrophy 238 / 7739
10
 (HPO:0002136) Broad-based gait 30 / 7739
11
 (HPO:0001249) Intellectual disability rare [HPO:skoehler] 1089 / 7739
12
 (HPO:0002403) Positive Romberg sign 11 / 7739
13
 (HPO:0001284) Areflexia 198 / 7739
14
 (HPO:0002166) Impaired vibration sensation in the lower limbs 26 / 7739
15
 (HPO:0010871) Sensory ataxia 7 / 7739
16
 (HPO:0003448) Decreased sensory nerve conduction velocity 9 / 7739
17
 (HPO:0009473) Joint contracture of the hand 84 / 7739
18
 (HPO:0002650) Scoliosis 705 / 7739
19
 (HPO:0012385) Camptodactyly 113 / 7739
20
 (HPO:0002579) Gastrointestinal dysmotility 11 / 7739
21
 (HPO:0002571) Achalasia 19 / 7739
22
 (HPO:0002460) Distal muscle weakness 122 / 7739
23
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
24
 (OMIM) Absence of sensory nerve conduction velocities 1 / 7739
25
 (OMIM) Delayed walking 13 / 7739
26
 (OMIM) Ring scotoma (early) 1 / 7739
27
 (OMIM) Mild upper limb ataxia 1 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
29
 (OMIM) Decreased fine touch in the lower extremities 1 / 7739
30
 (HPO:0003677) Slow progression 134 / 7739
31
 (OMIM) Loss of large myelinated fibers seen on sural nerve biopsy 1 / 7739
32
 (OMIM) Atrophic sural nerve 1 / 7739
33
 (OMIM) Immobility by the third decade 1 / 7739
34
 (OMIM) Hyperintense signaling of dorsal aspect of spinal cord seen on MRI (inversion recovery images) 1 / 7739
35
 (MedDRA:10057332) Loss of proprioception 1 / 7739
36
 (OMIM) Blindness by third decade 1 / 7739
37
 (HPO:0011463) Childhood onset 65 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).
Clinical Description OMIM Higgins et al. (1997) reported a large kindred in which 6 members had an autosomal recessive form of ataxia. Onset was in childhood with concentric contraction of the visual fields and proprioceptive loss. By the third decade, affected ...
Molecular genetics OMIM In affected members of the German-Swiss family reported by Higgins et al. (1997), Rajadhyaksha et al. (2010) identified a homozygous mutation in the FLVCR1 gene (N121D; 609144.0001). The mutation was found by targeted DNA capture and high-throughput sequencing ...