MCID: PST036
MIFTS: 33

Posterior Column Ataxia with Retinitis Pigmentosa

Categories: Genetic diseases, Rare diseases, Neuronal 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 57 53 75 37 29 6 73
Pcarp 57 53 59 75
Ataxia, Posterior Column, with Retinitis Pigmentosa 57 13 40
Axpc1 57 53 75
Autosomal Recessive Posterior Column Ataxia and Retinitis Pigmentosa 59
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
posterior column ataxia-retinitis pigmentosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slowly progressive disorder


HPO:

32
posterior column ataxia with retinitis pigmentosa:
Onset and clinical course childhood onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Posterior Column Ataxia with Retinitis Pigmentosa

NIH Rare Diseases : 53 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’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 intellectual disability and seizures

OMIM : 57 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 : 75 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 29.4 FLVCR1 FLVCR1-DT
2 retinitis pigmentosa 29.1 FLVCR1 FLVCR1-DT
3 leber congenital amaurosis 4 10.4
4 retinitis 10.4
5 leukemia 10.1
6 autonomic neuropathy 10.1
7 neuropathy 10.1

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Posterior Column Ataxia with Retinitis Pigmentosa:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Frequent (79-30%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 bowel incontinence 59 32 very rare (1%) Very rare (<4-1%) HP:0002607
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
8 nyctalopia 59 32 frequent (33%) Frequent (79-30%) HP:0000662
9 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
10 muscle cramps 59 32 occasional (7.5%) Occasional (29-5%) HP:0003394
11 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
12 areflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001284
13 impaired vibration sensation in the lower limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0002166
14 rod-cone dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000510
15 delayed gross motor development 59 32 occasional (7.5%) Occasional (29-5%) HP:0002194
16 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
17 camptodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012385
18 abnormality of the spinal cord 59 32 occasional (7.5%) Occasional (29-5%) HP:0002143
19 flexion contracture of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0012785
20 chronic pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0012532
21 gastrointestinal dysmotility 59 32 occasional (7.5%) Occasional (29-5%) HP:0002579
22 positive romberg sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0002403
23 truncal titubation 59 32 occasional (7.5%) Occasional (29-5%) HP:0030147
24 abnormal sensory nerve conduction velocity 59 32 occasional (7.5%) Occasional (29-5%) HP:0040132
25 bone spicule pigmentation of the retina 59 32 frequent (33%) Frequent (79-30%) HP:0007737
26 axonal degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0040078
27 ataxia 59 Very frequent (99-80%)
28 gait disturbance 59 Frequent (79-30%)
29 optic atrophy 32 HP:0000648
30 blindness 32 HP:0000618
31 skeletal muscle atrophy 32 HP:0003202
32 impaired proprioception 59 Very frequent (99-80%)
33 achalasia 32 HP:0002571
34 recurrent urinary tract infections 32 HP:0000010
35 urinary incontinence 32 HP:0000020
36 distal muscle weakness 32 HP:0002460
37 abnormality of peripheral nerves 59 Frequent (79-30%)
38 sensory ataxia 32 HP:0010871
39 pigmentary retinopathy 59 Frequent (79-30%)
40 broad-based gait 32 HP:0002136
41 joint contracture of the hand 32 HP:0009473
42 scotoma 32 HP:0000575
43 decreased sensory nerve conduction velocity 32 HP:0003448
44 undetectable electroretinogram 32 HP:0000550
45 ring scotoma 32 HP:0030529

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 29 FLVCR1

Anatomical Context for Posterior Column Ataxia with Retinitis Pigmentosa

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

41
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
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
2
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. ( 24628582 )
2014
3
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. ( 21267618 )
2011
4
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:

75
# 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 209)
# 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 FLVCR1, GLY493ARG single nucleotide variant Pathogenic
8 FLVCR1 NM_014053.3(FLVCR1): c.611T> G (p.Met204Arg) single nucleotide variant Uncertain significance rs886045926 GRCh37 Chromosome 1, 213032405: 213032405
9 FLVCR1 NM_014053.3(FLVCR1): c.611T> G (p.Met204Arg) single nucleotide variant Uncertain significance rs886045926 GRCh38 Chromosome 1, 212859063: 212859063
10 FLVCR1 NM_014053.3(FLVCR1): c.738+9T> C single nucleotide variant Uncertain significance rs41296696 GRCh37 Chromosome 1, 213032541: 213032541
11 FLVCR1 NM_014053.3(FLVCR1): c.738+9T> C single nucleotide variant Uncertain significance rs41296696 GRCh38 Chromosome 1, 212859199: 212859199
12 FLVCR1 NM_014053.3(FLVCR1): c.1272T> C (p.Tyr424=) single nucleotide variant Benign/Likely benign rs17677416 GRCh38 Chromosome 1, 212887966: 212887966
13 FLVCR1 NM_014053.3(FLVCR1): c.1272T> C (p.Tyr424=) single nucleotide variant Benign/Likely benign rs17677416 GRCh37 Chromosome 1, 213061308: 213061308
14 FLVCR1 NM_014053.3(FLVCR1): c.1521A> G (p.Leu507=) single nucleotide variant Uncertain significance rs74607124 GRCh38 Chromosome 1, 212889253: 212889253
15 FLVCR1 NM_014053.3(FLVCR1): c.1521A> G (p.Leu507=) single nucleotide variant Uncertain significance rs74607124 GRCh37 Chromosome 1, 213062595: 213062595
16 FLVCR1 NM_014053.3(FLVCR1): c.*284G> A single nucleotide variant Uncertain significance rs41301021 GRCh38 Chromosome 1, 212895574: 212895574
17 FLVCR1 NM_014053.3(FLVCR1): c.*284G> A single nucleotide variant Uncertain significance rs41301021 GRCh37 Chromosome 1, 213068916: 213068916
18 FLVCR1 NM_014053.3(FLVCR1): c.*569C> G single nucleotide variant Uncertain significance rs185115842 GRCh38 Chromosome 1, 212895859: 212895859
19 FLVCR1 NM_014053.3(FLVCR1): c.*569C> G single nucleotide variant Uncertain significance rs185115842 GRCh37 Chromosome 1, 213069201: 213069201
20 FLVCR1 NM_014053.3(FLVCR1): c.*673G> A single nucleotide variant Benign rs41301027 GRCh38 Chromosome 1, 212895963: 212895963
21 FLVCR1 NM_014053.3(FLVCR1): c.*673G> A single nucleotide variant Benign rs41301027 GRCh37 Chromosome 1, 213069305: 213069305
22 FLVCR1 NM_014053.3(FLVCR1): c.*842_*843delCT deletion Uncertain significance rs549002753 GRCh38 Chromosome 1, 212896132: 212896133
23 FLVCR1 NM_014053.3(FLVCR1): c.*842_*843delCT deletion Uncertain significance rs549002753 GRCh37 Chromosome 1, 213069474: 213069475
24 FLVCR1 NM_014053.3(FLVCR1): c.*855T> C single nucleotide variant Likely benign rs564661630 GRCh38 Chromosome 1, 212896145: 212896145
25 FLVCR1 NM_014053.3(FLVCR1): c.*855T> C single nucleotide variant Likely benign rs564661630 GRCh37 Chromosome 1, 213069487: 213069487
26 FLVCR1 NM_014053.3(FLVCR1): c.*855delT deletion Uncertain significance rs886045934 GRCh38 Chromosome 1, 212896145: 212896145
27 FLVCR1 NM_014053.3(FLVCR1): c.*855delT deletion Uncertain significance rs886045934 GRCh37 Chromosome 1, 213069487: 213069487
28 FLVCR1 NM_014053.3(FLVCR1): c.*855dupT duplication Uncertain significance rs886045933 GRCh38 Chromosome 1, 212896145: 212896145
29 FLVCR1 NM_014053.3(FLVCR1): c.*855dupT duplication Uncertain significance rs886045933 GRCh37 Chromosome 1, 213069487: 213069487
30 FLVCR1 NM_014053.3(FLVCR1): c.*931C> T single nucleotide variant Benign rs12567713 GRCh38 Chromosome 1, 212896221: 212896221
31 FLVCR1 NM_014053.3(FLVCR1): c.*931C> T single nucleotide variant Benign rs12567713 GRCh37 Chromosome 1, 213069563: 213069563
32 FLVCR1 NM_014053.3(FLVCR1): c.*1300A> G single nucleotide variant Uncertain significance rs186133334 GRCh38 Chromosome 1, 212896590: 212896590
33 FLVCR1 NM_014053.3(FLVCR1): c.*1300A> G single nucleotide variant Uncertain significance rs186133334 GRCh37 Chromosome 1, 213069932: 213069932
34 FLVCR1 NM_014053.3(FLVCR1): c.*1317A> G single nucleotide variant Uncertain significance rs145011972 GRCh38 Chromosome 1, 212896607: 212896607
35 FLVCR1 NM_014053.3(FLVCR1): c.*1317A> G single nucleotide variant Uncertain significance rs145011972 GRCh37 Chromosome 1, 213069949: 213069949
36 FLVCR1 NM_014053.3(FLVCR1): c.*1544A> G single nucleotide variant Likely benign rs6685793 GRCh37 Chromosome 1, 213070176: 213070176
37 FLVCR1 NM_014053.3(FLVCR1): c.*1544A> G single nucleotide variant Likely benign rs6685793 GRCh38 Chromosome 1, 212896834: 212896834
38 FLVCR1 NM_014053.3(FLVCR1): c.*1751C> T single nucleotide variant Likely benign rs187971996 GRCh37 Chromosome 1, 213070383: 213070383
39 FLVCR1 NM_014053.3(FLVCR1): c.*1751C> T single nucleotide variant Likely benign rs187971996 GRCh38 Chromosome 1, 212897041: 212897041
40 FLVCR1 NM_014053.3(FLVCR1): c.*1916_*1923delTAAATAAA deletion Uncertain significance rs886045937 GRCh38 Chromosome 1, 212897206: 212897213
41 FLVCR1 NM_014053.3(FLVCR1): c.*1916_*1923delTAAATAAA deletion Uncertain significance rs886045937 GRCh37 Chromosome 1, 213070548: 213070555
42 FLVCR1 NM_014053.3(FLVCR1): c.*2218C> T single nucleotide variant Uncertain significance rs886045939 GRCh38 Chromosome 1, 212897508: 212897508
43 FLVCR1 NM_014053.3(FLVCR1): c.*2218C> T single nucleotide variant Uncertain significance rs886045939 GRCh37 Chromosome 1, 213070850: 213070850
44 FLVCR1 NM_014053.3(FLVCR1): c.*2443C> T single nucleotide variant Uncertain significance rs117380165 GRCh38 Chromosome 1, 212897733: 212897733
45 FLVCR1 NM_014053.3(FLVCR1): c.*2443C> T single nucleotide variant Uncertain significance rs117380165 GRCh37 Chromosome 1, 213071075: 213071075
46 FLVCR1 NM_014053.3(FLVCR1): c.*2672_*2673delGT deletion Uncertain significance rs886045942 GRCh38 Chromosome 1, 212897962: 212897963
47 FLVCR1 NM_014053.3(FLVCR1): c.*2672_*2673delGT deletion Uncertain significance rs886045942 GRCh37 Chromosome 1, 213071304: 213071305
48 FLVCR1 NM_014053.3(FLVCR1): c.*2709T> C single nucleotide variant Benign rs1284855 GRCh38 Chromosome 1, 212897999: 212897999
49 FLVCR1 NM_014053.3(FLVCR1): c.*2709T> C single nucleotide variant Benign rs1284855 GRCh37 Chromosome 1, 213071341: 213071341
50 FLVCR1 NM_014053.3(FLVCR1): c.*3130_*3131insAATT insertion Benign rs35144312 GRCh38 Chromosome 1, 212898420: 212898421

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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