PCARP
MCID: PST036
MIFTS: 33

Posterior Column Ataxia with Retinitis Pigmentosa (PCARP)

Categories: Eye diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Posterior Column Ataxia with Retinitis Pigmentosa

MalaCards integrated aliases for Posterior Column Ataxia with Retinitis Pigmentosa:

Name: Posterior Column Ataxia with Retinitis Pigmentosa 58 54 76 38 30 6 74
Pcarp 58 54 60 76
Ataxia, Posterior Column, with Retinitis Pigmentosa 58 13 41
Axpc1 58 54 76
Autosomal Recessive Posterior Column Ataxia and Retinitis Pigmentosa 60
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
posterior column ataxia-retinitis pigmentosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slowly progressive disorder


HPO:

33
posterior column ataxia with retinitis pigmentosa:
Onset and clinical course childhood onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Posterior Column Ataxia with Retinitis Pigmentosa

NIH Rare Diseases : 54 Posterior column ataxia with retinitis pigmentosa (PCARP) is a genetic condition that affects vision and the nervous system. It is characterized by a loss of cells in the light sensitive tissue in the back of the eye (retinitis pigmentosa), abnormalities in the body's unconscious perception of movement and spatial orientation (proprioception), and muscle weakness and breakdown (atrophy). Other signs and symptoms may include curvature of the spine (scoliosis), an abnormal bending of the joints in the fingers (camptodactyly), and issues with the gastrointestinal system. PCARP is caused by mutations in the FLVCR1 gene and is inherited in an autosomal recessive manner. While there is no one treatment for this condition, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person´┐Ż??s symptoms.

MalaCards based summary : Posterior Column Ataxia with Retinitis Pigmentosa, also known as pcarp, is related to posterior column ataxia and retinitis pigmentosa, and has symptoms including ataxia, ataxia, sensory and loss of proprioception. An important gene associated with Posterior Column Ataxia with Retinitis Pigmentosa is FLVCR1 (Feline Leukemia Virus Subgroup C Cellular Receptor 1). Affiliated tissues include spinal cord, eye and bone, and related phenotypes are impaired vibration sensation in the lower limbs and intellectual disability

OMIM : 58 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). (609033)

UniProtKB/Swiss-Prot : 76 Posterior column ataxia with retinitis pigmentosa: A neurodegenerative syndrome beginning in infancy with areflexia and retinitis pigmentosa. Nyctalopia (night blindness) and peripheral visual field loss are usually evident during late childhood or teenage years, with subsequent progressive constriction of the visual fields and loss of central retinal function over time. A sensory ataxia caused by degeneration of the posterior columns of the spinal cord results in a loss of proprioceptive sensation that is clinically evident in the second decade of life and gradually progresses. Scoliosis, camptodactyly, achalasia, gastrointestinal dysmotility, and a sensory peripheral neuropathy are variable features of the disease. Affected individuals have no clinical or radiological evidence of cerebral or cerebellar involvement.

Related Diseases for Posterior Column Ataxia with Retinitis Pigmentosa

Diseases related to Posterior Column Ataxia with Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 posterior column ataxia 30.3 FLVCR1 FLVCR1-DT
2 retinitis pigmentosa 30.1 FLVCR1 FLVCR1-DT
3 leber congenital amaurosis 4 10.6
4 retinitis 10.6
5 ataxia and polyneuropathy, adult-onset 10.2
6 leukemia 10.2
7 autonomic neuropathy 10.2
8 neuropathy 10.2

Graphical network of the top 20 diseases related to Posterior Column Ataxia with Retinitis Pigmentosa:



Diseases related to Posterior Column Ataxia with Retinitis Pigmentosa

Symptoms & Phenotypes for Posterior Column Ataxia with Retinitis Pigmentosa

Human phenotypes related to Posterior Column Ataxia with Retinitis Pigmentosa:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 60 33 hallmark (90%) Very frequent (99-80%) HP:0002166
2 intellectual disability 60 33 occasional (7.5%) Frequent (79-30%) HP:0001249
3 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
4 nyctalopia 60 33 frequent (33%) Frequent (79-30%) HP:0000662
5 visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000572
6 rod-cone dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000510
7 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
8 axonal degeneration 60 33 frequent (33%) Frequent (79-30%) HP:0040078
9 bone spicule pigmentation of the retina 60 33 frequent (33%) Frequent (79-30%) HP:0007737
10 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
11 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
12 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
13 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
14 osteomyelitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002754
15 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
16 delayed gross motor development 60 33 occasional (7.5%) Occasional (29-5%) HP:0002194
17 flexion contracture of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0012785
18 camptodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0012385
19 abnormality of the spinal cord 60 33 occasional (7.5%) Occasional (29-5%) HP:0002143
20 chronic pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0012532
21 gastrointestinal dysmotility 60 33 occasional (7.5%) Occasional (29-5%) HP:0002579
22 positive romberg sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0002403
23 truncal titubation 60 33 occasional (7.5%) Occasional (29-5%) HP:0030147
24 abnormal sensory nerve conduction velocity 60 33 occasional (7.5%) Occasional (29-5%) HP:0040132
25 muscle spasm 33 occasional (7.5%) HP:0003394
26 bowel incontinence 60 33 very rare (1%) Very rare (<4-1%) HP:0002607
27 ataxia 60 33 Very frequent (99-80%) HP:0001251
28 gait disturbance 60 Frequent (79-30%)
29 optic atrophy 33 HP:0000648
30 blindness 33 HP:0000618
31 skeletal muscle atrophy 33 HP:0003202
32 impaired proprioception 60 Very frequent (99-80%)
33 achalasia 33 HP:0002571
34 muscle cramps 60 Occasional (29-5%)
35 recurrent urinary tract infections 33 HP:0000010
36 urinary incontinence 33 HP:0000020
37 distal muscle weakness 33 HP:0002460
38 abnormality of peripheral nerves 60 Frequent (79-30%)
39 sensory ataxia 33 HP:0010871
40 pigmentary retinopathy 60 Frequent (79-30%)
41 broad-based gait 33 HP:0002136
42 joint contracture of the hand 33 HP:0009473
43 scotoma 33 HP:0000575
44 decreased sensory nerve conduction velocity 33 HP:0003448
45 undetectable electroretinogram 33 HP:0000550
46 ring scotoma 33 HP:0030529

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
achalasia
gastrointestinal dysmotility

Genitourinary Bladder:
recurrent urinary tract infections
urinary incontinence

Skeletal Hands:
camptodactyly

Head And Neck Eyes:
optic atrophy
retinitis pigmentosa
ring scotoma (early)
night blindness (infancy and early childhood)
blindness by third decade
more
Neurologic Peripheral Nervous System:
areflexia
sensory ataxia
broad-based gait
positive romberg sign
loss of proprioception
more
Muscle Soft Tissue:
distal muscle weakness
neurogenic muscle atrophy

Neurologic Central Nervous System:
delayed walking (1 family)
mental retardation (1 family)

Clinical features from OMIM:

609033

UMLS symptoms related to Posterior Column Ataxia with Retinitis Pigmentosa:


ataxia, ataxia, sensory, loss of proprioception

Drugs & Therapeutics for Posterior Column Ataxia with Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Posterior Column Ataxia with Retinitis Pigmentosa

Genetic Tests for Posterior Column Ataxia with Retinitis Pigmentosa

Genetic tests related to Posterior Column Ataxia with Retinitis Pigmentosa:

# Genetic test Affiliating Genes
1 Posterior Column Ataxia with Retinitis Pigmentosa 30 FLVCR1

Anatomical Context for Posterior Column Ataxia with Retinitis Pigmentosa

MalaCards organs/tissues related to Posterior Column Ataxia with Retinitis Pigmentosa:

42
Spinal Cord, Eye, Bone, Skeletal Muscle, Retina

Publications for Posterior Column Ataxia with Retinitis Pigmentosa

Articles related to Posterior Column Ataxia with Retinitis Pigmentosa:

# Title Authors Year
1
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. ( 30444160 )
2018
2
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
3
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. ( 24628582 )
2014
4
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. ( 21267618 )
2011
5
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. ( 9921862 )
1999

Variations for Posterior Column Ataxia with Retinitis Pigmentosa

UniProtKB/Swiss-Prot genetic disease variations for Posterior Column Ataxia with Retinitis Pigmentosa:

76
# Symbol AA change Variation ID SNP ID
1 FLVCR1 p.Asn121Asp VAR_065158 rs267606820
2 FLVCR1 p.Cys192Arg VAR_065159 rs267606821
3 FLVCR1 p.Ala241Thr VAR_065160 rs267606819
4 FLVCR1 p.Gly493Arg VAR_065161

ClinVar genetic disease variations for Posterior Column Ataxia with Retinitis Pigmentosa:

6 (show top 50) (show all 214)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLVCR1 NM_014053.3(FLVCR1): c.361A> G (p.Asn121Asp) single nucleotide variant Pathogenic rs267606820 GRCh37 Chromosome 1, 213032155: 213032155
2 FLVCR1 NM_014053.3(FLVCR1): c.361A> G (p.Asn121Asp) single nucleotide variant Pathogenic rs267606820 GRCh38 Chromosome 1, 212858813: 212858813
3 FLVCR1 NM_014053.3(FLVCR1): c.721G> A (p.Ala241Thr) single nucleotide variant Pathogenic rs267606819 GRCh37 Chromosome 1, 213032515: 213032515
4 FLVCR1 NM_014053.3(FLVCR1): c.721G> A (p.Ala241Thr) single nucleotide variant Pathogenic rs267606819 GRCh38 Chromosome 1, 212859173: 212859173
5 FLVCR1 NM_014053.3(FLVCR1): c.574T> C (p.Cys192Arg) single nucleotide variant Pathogenic rs267606821 GRCh37 Chromosome 1, 213032368: 213032368
6 FLVCR1 NM_014053.3(FLVCR1): c.574T> C (p.Cys192Arg) single nucleotide variant Pathogenic rs267606821 GRCh38 Chromosome 1, 212859026: 212859026
7 FLVCR1 NM_014053.4(FLVCR1): c.1477G> C (p.Gly493Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 213062551: 213062551
8 FLVCR1 NM_014053.4(FLVCR1): c.1477G> C (p.Gly493Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 212889209: 212889209
9 FLVCR1 NM_014053.3(FLVCR1): c.154G> C (p.Ala52Pro) single nucleotide variant Benign rs11120047 GRCh37 Chromosome 1, 213031948: 213031948
10 FLVCR1 NM_014053.3(FLVCR1): c.154G> C (p.Ala52Pro) single nucleotide variant Benign rs11120047 GRCh38 Chromosome 1, 212858606: 212858606
11 FLVCR1 NM_014053.3(FLVCR1): c.1631C> T (p.Thr544Met) single nucleotide variant Benign rs3207090 GRCh37 Chromosome 1, 213068595: 213068595
12 FLVCR1 NM_014053.3(FLVCR1): c.1631C> T (p.Thr544Met) single nucleotide variant Benign rs3207090 GRCh38 Chromosome 1, 212895253: 212895253
13 FLVCR1 NM_014053.3(FLVCR1): c.611T> G (p.Met204Arg) single nucleotide variant Uncertain significance rs886045926 GRCh38 Chromosome 1, 212859063: 212859063
14 FLVCR1 NM_014053.3(FLVCR1): c.611T> G (p.Met204Arg) single nucleotide variant Uncertain significance rs886045926 GRCh37 Chromosome 1, 213032405: 213032405
15 FLVCR1 NM_014053.3(FLVCR1): c.738+9T> C single nucleotide variant Uncertain significance rs41296696 GRCh38 Chromosome 1, 212859199: 212859199
16 FLVCR1 NM_014053.3(FLVCR1): c.738+9T> C single nucleotide variant Uncertain significance rs41296696 GRCh37 Chromosome 1, 213032541: 213032541
17 FLVCR1 NM_014053.3(FLVCR1): c.1272T> C (p.Tyr424=) single nucleotide variant Benign/Likely benign rs17677416 GRCh38 Chromosome 1, 212887966: 212887966
18 FLVCR1 NM_014053.3(FLVCR1): c.1272T> C (p.Tyr424=) single nucleotide variant Benign/Likely benign rs17677416 GRCh37 Chromosome 1, 213061308: 213061308
19 FLVCR1 NM_014053.3(FLVCR1): c.1521A> G (p.Leu507=) single nucleotide variant Uncertain significance rs74607124 GRCh38 Chromosome 1, 212889253: 212889253
20 FLVCR1 NM_014053.3(FLVCR1): c.1521A> G (p.Leu507=) single nucleotide variant Uncertain significance rs74607124 GRCh37 Chromosome 1, 213062595: 213062595
21 FLVCR1 NM_014053.3(FLVCR1): c.*284G> A single nucleotide variant Uncertain significance rs41301021 GRCh38 Chromosome 1, 212895574: 212895574
22 FLVCR1 NM_014053.3(FLVCR1): c.*284G> A single nucleotide variant Uncertain significance rs41301021 GRCh37 Chromosome 1, 213068916: 213068916
23 FLVCR1 NM_014053.3(FLVCR1): c.*569C> G single nucleotide variant Uncertain significance rs185115842 GRCh38 Chromosome 1, 212895859: 212895859
24 FLVCR1 NM_014053.3(FLVCR1): c.*569C> G single nucleotide variant Uncertain significance rs185115842 GRCh37 Chromosome 1, 213069201: 213069201
25 FLVCR1 NM_014053.3(FLVCR1): c.*673G> A single nucleotide variant Benign rs41301027 GRCh38 Chromosome 1, 212895963: 212895963
26 FLVCR1 NM_014053.3(FLVCR1): c.*673G> A single nucleotide variant Benign rs41301027 GRCh37 Chromosome 1, 213069305: 213069305
27 FLVCR1 NM_014053.3(FLVCR1): c.*842_*843delCT deletion Uncertain significance rs549002753 GRCh38 Chromosome 1, 212896132: 212896133
28 FLVCR1 NM_014053.3(FLVCR1): c.*842_*843delCT deletion Uncertain significance rs549002753 GRCh37 Chromosome 1, 213069474: 213069475
29 FLVCR1 NM_014053.3(FLVCR1): c.*855T> C single nucleotide variant Likely benign rs564661630 GRCh38 Chromosome 1, 212896145: 212896145
30 FLVCR1 NM_014053.3(FLVCR1): c.*855T> C single nucleotide variant Likely benign rs564661630 GRCh37 Chromosome 1, 213069487: 213069487
31 FLVCR1 NM_014053.3(FLVCR1): c.*855delT deletion Uncertain significance rs752835859 GRCh38 Chromosome 1, 212896145: 212896145
32 FLVCR1 NM_014053.3(FLVCR1): c.*855delT deletion Uncertain significance rs752835859 GRCh37 Chromosome 1, 213069487: 213069487
33 FLVCR1 NM_014053.3(FLVCR1): c.*855dupT duplication Uncertain significance rs752835859 GRCh38 Chromosome 1, 212896145: 212896145
34 FLVCR1 NM_014053.3(FLVCR1): c.*855dupT duplication Uncertain significance rs752835859 GRCh37 Chromosome 1, 213069487: 213069487
35 FLVCR1 NM_014053.3(FLVCR1): c.*931C> T single nucleotide variant Benign rs12567713 GRCh38 Chromosome 1, 212896221: 212896221
36 FLVCR1 NM_014053.3(FLVCR1): c.*931C> T single nucleotide variant Benign rs12567713 GRCh37 Chromosome 1, 213069563: 213069563
37 FLVCR1 NM_014053.3(FLVCR1): c.*1300A> G single nucleotide variant Uncertain significance rs186133334 GRCh38 Chromosome 1, 212896590: 212896590
38 FLVCR1 NM_014053.3(FLVCR1): c.*1300A> G single nucleotide variant Uncertain significance rs186133334 GRCh37 Chromosome 1, 213069932: 213069932
39 FLVCR1 NM_014053.3(FLVCR1): c.*1317A> G single nucleotide variant Uncertain significance rs145011972 GRCh38 Chromosome 1, 212896607: 212896607
40 FLVCR1 NM_014053.3(FLVCR1): c.*1317A> G single nucleotide variant Uncertain significance rs145011972 GRCh37 Chromosome 1, 213069949: 213069949
41 FLVCR1 NM_014053.3(FLVCR1): c.*1544A> G single nucleotide variant Likely benign rs6685793 GRCh38 Chromosome 1, 212896834: 212896834
42 FLVCR1 NM_014053.3(FLVCR1): c.*1544A> G single nucleotide variant Likely benign rs6685793 GRCh37 Chromosome 1, 213070176: 213070176
43 FLVCR1 NM_014053.3(FLVCR1): c.*1751C> T single nucleotide variant Likely benign rs187971996 GRCh38 Chromosome 1, 212897041: 212897041
44 FLVCR1 NM_014053.3(FLVCR1): c.*1751C> T single nucleotide variant Likely benign rs187971996 GRCh37 Chromosome 1, 213070383: 213070383
45 FLVCR1 NM_014053.3(FLVCR1): c.*1916_*1923delTAAATAAA deletion Uncertain significance rs141272551 GRCh38 Chromosome 1, 212897206: 212897213
46 FLVCR1 NM_014053.3(FLVCR1): c.*1916_*1923delTAAATAAA deletion Uncertain significance rs141272551 GRCh37 Chromosome 1, 213070548: 213070555
47 FLVCR1 NM_014053.3(FLVCR1): c.*2218C> T single nucleotide variant Uncertain significance rs886045939 GRCh38 Chromosome 1, 212897508: 212897508
48 FLVCR1 NM_014053.3(FLVCR1): c.*2218C> T single nucleotide variant Uncertain significance rs886045939 GRCh37 Chromosome 1, 213070850: 213070850
49 FLVCR1 NM_014053.3(FLVCR1): c.*2443C> T single nucleotide variant Uncertain significance rs117380165 GRCh38 Chromosome 1, 212897733: 212897733
50 FLVCR1 NM_014053.3(FLVCR1): c.*2443C> T single nucleotide variant Uncertain significance rs117380165 GRCh37 Chromosome 1, 213071075: 213071075

Expression for Posterior Column Ataxia with Retinitis Pigmentosa

Search GEO for disease gene expression data for Posterior Column Ataxia with Retinitis Pigmentosa.

Pathways for Posterior Column Ataxia with Retinitis Pigmentosa

GO Terms for Posterior Column Ataxia with Retinitis Pigmentosa

Sources for Posterior Column Ataxia with Retinitis Pigmentosa

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