AXPC1
MCID: PST036
MIFTS: 38

Posterior Column Ataxia with Retinitis Pigmentosa (AXPC1)

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 57 20 72 36 70
Pcarp 57 20 58 72
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome 58 29 6
Ataxia, Posterior Column, with Retinitis Pigmentosa 57 13 39
Axpc1 57 20 72
Autosomal Recessive Posterior Column Ataxia and Retinitis Pigmentosa 58

Characteristics:

Orphanet epidemiological data:

58
posterior column ataxia-retinitis pigmentosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slowly progressive disorder


HPO:

31
posterior column ataxia with retinitis pigmentosa:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Posterior Column Ataxia with Retinitis Pigmentosa

GARD : 20 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 (FLVCR Heme Transporter 1). Affiliated tissues include spinal cord, eye and bone, and related phenotypes are impaired vibration sensation in the lower limbs and intellectual disability

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) (Updated 05-Apr-2021)

KEGG : 36 Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive, childhood onset neurodegenerative disorder characterized by sensory ataxia and retinitis pigmentosa. It has been reported that PCARP is caused by mutations in FLVCR1, a gene encoding a heme-transporter protein.

UniProtKB/Swiss-Prot : 72 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 posterior column ataxia 10.6
2 retinitis pigmentosa 10.6
3 ataxia and polyneuropathy, adult-onset 10.6
4 neuroretinitis 10.6
5 retinitis 10.6
6 hereditary ataxia 10.4
7 astigmatism 10.3
8 autosomal recessive disease 10.3
9 autonomic neuropathy 10.3
10 vitreous syneresis 10.3
11 polyneuropathy 10.3
12 sensory peripheral neuropathy 10.3
13 cataract 10.3
14 neuropathy 10.3

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired vibration sensation in the lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0002166
2 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
3 nyctalopia 58 31 frequent (33%) Frequent (79-30%) HP:0000662
4 rod-cone dystrophy 58 31 very rare (1%) Frequent (79-30%) HP:0000510
5 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
6 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
7 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
8 bone spicule pigmentation of the retina 58 31 frequent (33%) Frequent (79-30%) HP:0007737
9 axonal degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0040078
10 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
11 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
12 cataract 58 31 very rare (1%) Occasional (29-5%) HP:0000518
13 areflexia 58 31 very rare (1%) Occasional (29-5%) HP:0001284
14 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
15 positive romberg sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0002403
16 flexion contracture of finger 58 31 very rare (1%) Occasional (29-5%) HP:0012785
17 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
18 camptodactyly 58 31 very rare (1%) Occasional (29-5%) HP:0012385
19 abnormality of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0002143
20 gastrointestinal dysmotility 58 31 occasional (7.5%) Occasional (29-5%) HP:0002579
21 muscle spasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0003394
22 chronic pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012532
23 truncal titubation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030147
24 abnormal sensory nerve conduction velocity 58 31 occasional (7.5%) Occasional (29-5%) HP:0040132
25 seizure 31 occasional (7.5%) HP:0001250
26 ataxia 58 31 very rare (1%) Very frequent (99-80%) HP:0001251
27 bowel incontinence 58 31 very rare (1%) Very rare (<4-1%) HP:0002607
28 delayed ability to walk 31 very rare (1%) HP:0031936
29 seizures 58 Occasional (29-5%)
30 gait disturbance 58 Frequent (79-30%)
31 optic atrophy 31 HP:0000648
32 blindness 31 HP:0000618
33 skeletal muscle atrophy 31 HP:0003202
34 achalasia 31 HP:0002571
35 recurrent urinary tract infections 31 HP:0000010
36 broad-based gait 31 HP:0002136
37 impaired proprioception 58 Very frequent (99-80%)
38 pigmentary retinopathy 58 Frequent (79-30%)
39 distal muscle weakness 31 HP:0002460
40 urinary incontinence 31 HP:0000020
41 hyperintensity of mri t2 signal of the spinal cord 31 HP:0040272
42 abnormality of peripheral nerves 58 Frequent (79-30%)
43 joint contracture of the hand 31 HP:0009473
44 attenuation of retinal blood vessels 31 HP:0007843
45 sensory ataxia 31 HP:0010871
46 peripheral demyelination 31 HP:0011096
47 decreased sensory nerve conduction velocity 31 HP:0003448
48 ring scotoma 31 HP:0030529
49 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
broad-based gait
positive romberg sign
sensory ataxia
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 (Updated 05-Apr-2021)

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-Retinitis Pigmentosa Syndrome 29 FLVCR1

Anatomical Context for Posterior Column Ataxia with Retinitis Pigmentosa

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

40
Spinal Cord, Eye, Bone, Retina, Skeletal Muscle

Publications for Posterior Column Ataxia with Retinitis Pigmentosa

Articles related to Posterior Column Ataxia with Retinitis Pigmentosa:

(show all 25)
# Title Authors PMID Year
1
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 61 6 57
21267618 2011
2
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 61 6 57
21070897 2010
3
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 57 6
22279524 2012
4
Autosomal recessive posterior column ataxia and retinitis pigmentosa. 6 57
9855554 1998
5
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 57 6
9409377 1997
6
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. 6 61
30656474 2019
7
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. 61 57
10830426 2000
8
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. 57 61
9921862 1999
9
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 20 61
24628582 2015
10
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 6
23591405 2014
11
FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. 61
32822874 2020
12
Expression and purification of the heme exporter FLVCR1a. 61
32278001 2020
13
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis. 61
32466579 2020
14
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene. 61
32039643 2020
15
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. 61
30444160 2018
16
Potential Treatment of Retinal Diseases with Iron Chelators. 61
30360383 2018
17
A robust periodic capacitated arc routing problem for urban waste collection considering drivers and crew's working time. 61
29599022 2018
18
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. 61
29192808 2018
19
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 61
28766925 2017
20
Heme and FLVCR-related transporter families SLC48 and SLC49. 61
23506900 2013
21
[Present efforts in the medical genome center at the University of Tokyo Hospital]. 61
23475516 2013
22
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. 61
22483575 2012
23
A Memetic Algorithm for Periodic Capacitated Arc Routing Problem. 61
21768050 2011
24
[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers]. 61
22277444 2011
25
Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection. 61
10892843 2000

Variations for Posterior Column Ataxia with Retinitis Pigmentosa

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

6 (show top 50) (show all 221)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLVCR1 NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) SNV Pathogenic 18418 rs267606820 GRCh37: 1:213032155-213032155
GRCh38: 1:212858813-212858813
2 FLVCR1 NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) SNV Pathogenic 18419 rs267606819 GRCh37: 1:213032515-213032515
GRCh38: 1:212859173-212859173
3 FLVCR1 NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) SNV Pathogenic 18420 rs267606821 GRCh37: 1:213032368-213032368
GRCh38: 1:212859026-212859026
4 FLVCR1 NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) SNV Pathogenic 30775 rs1558121050 GRCh37: 1:213062551-213062551
GRCh38: 1:212889209-212889209
5 FLVCR1 NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) SNV Pathogenic 488940 rs538343832 GRCh37: 1:213068348-213068348
GRCh38: 1:212895006-212895006
6 FLVCR1 NM_014053.4(FLVCR1):c.1092+5G>A SNV Likely pathogenic 374768 rs556788423 GRCh37: 1:213056785-213056785
GRCh38: 1:212883443-212883443
7 FLVCR1 NM_014053.4(FLVCR1):c.755del (p.Gly252fs) Deletion Likely pathogenic 872563 GRCh37: 1:213037082-213037082
GRCh38: 1:212863740-212863740
8 FLVCR1 NM_014053.4(FLVCR1):c.*2061_*2062CA[12] Microsatellite Conflicting interpretations of pathogenicity 295373 rs139242973 GRCh37: 1:213070691-213070692
GRCh38: 1:212897349-212897350
9 FLVCR1 NM_014053.4(FLVCR1):c.*1566A>T SNV Uncertain significance 295358 rs113327053 GRCh37: 1:213070198-213070198
GRCh38: 1:212896856-212896856
10 FLVCR1 NM_014053.4(FLVCR1):c.*2949G>A SNV Uncertain significance 295390 rs756936130 GRCh37: 1:213071581-213071581
GRCh38: 1:212898239-212898239
11 FLVCR1 NM_014053.3(FLVCR1):c.-181A>G SNV Uncertain significance 295306 rs886045921 GRCh37: 1:213031614-213031614
GRCh38: 1:212858272-212858272
12 FLVCR1 NM_014053.4(FLVCR1):c.*1880_*1883TAAA[9] Microsatellite Uncertain significance 295367 rs141272551 GRCh37: 1:213070509-213070516
GRCh38: 1:212897167-212897174
13 FLVCR1 NM_014053.4(FLVCR1):c.*1627T>G SNV Uncertain significance 295361 rs529311781 GRCh37: 1:213070259-213070259
GRCh38: 1:212896917-212896917
14 FLVCR1 NM_014053.4(FLVCR1):c.*3260T>C SNV Uncertain significance 295398 rs183392554 GRCh37: 1:213071892-213071892
GRCh38: 1:212898550-212898550
15 FLVCR1 NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) SNV Uncertain significance 295319 rs41297444 GRCh37: 1:213046088-213046088
GRCh38: 1:212872746-212872746
16 FLVCR1 NM_014053.4(FLVCR1):c.*2189G>A SNV Uncertain significance 295378 rs183774878 GRCh37: 1:213070821-213070821
GRCh38: 1:212897479-212897479
17 FLVCR1 NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) SNV Uncertain significance 295322 rs550517136 GRCh37: 1:213056747-213056747
GRCh38: 1:212883405-212883405
18 FLVCR2 NM_017791.3(FLVCR2):c.*952T>G SNV Uncertain significance 885351 GRCh37: 14:76113767-76113767
GRCh38: 14:75647424-75647424
19 FLVCR2 , LOC102724153 NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg) SNV Uncertain significance 886378 GRCh37: 14:76045592-76045592
GRCh38: 14:75579249-75579249
20 FLVCR2 , LOC102724153 NM_017791.3(FLVCR2):c.360C>G (p.Ala120=) SNV Uncertain significance 886379 GRCh37: 14:76045675-76045675
GRCh38: 14:75579332-75579332
21 FLVCR2 NM_017791.3(FLVCR2):c.669+8G>C SNV Uncertain significance 887371 GRCh37: 14:76045992-76045992
GRCh38: 14:75579649-75579649
22 FLVCR2 NM_017791.3(FLVCR2):c.*1003G>A SNV Uncertain significance 887443 GRCh37: 14:76113818-76113818
GRCh38: 14:75647475-75647475
23 FLVCR2 NM_017791.3(FLVCR2):c.*1070T>C SNV Uncertain significance 887444 GRCh37: 14:76113885-76113885
GRCh38: 14:75647542-75647542
24 FLVCR2 NM_017791.3(FLVCR2):c.*1071G>T SNV Uncertain significance 887445 GRCh37: 14:76113886-76113886
GRCh38: 14:75647543-75647543
25 FLVCR2 NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val) SNV Uncertain significance 887373 GRCh37: 14:76088518-76088518
GRCh38: 14:75622175-75622175
26 FLVCR2 NM_017791.3(FLVCR2):c.*1322G>A SNV Uncertain significance 887447 GRCh37: 14:76114137-76114137
GRCh38: 14:75647794-75647794
27 FLVCR2 NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) SNV Uncertain significance 191048 rs757778790 GRCh37: 14:76100017-76100017
GRCh38: 14:75633674-75633674
28 FLVCR2 NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=) SNV Uncertain significance 887569 GRCh37: 14:76107340-76107340
GRCh38: 14:75640997-75640997
29 FLVCR2 NM_017791.3(FLVCR2):c.*1613C>T SNV Uncertain significance 887630 GRCh37: 14:76114428-76114428
GRCh38: 14:75648085-75648085
30 FLVCR2 NM_017791.3(FLVCR2):c.*1672G>A SNV Uncertain significance 887631 GRCh37: 14:76114487-76114487
GRCh38: 14:75648144-75648144
31 FLVCR2 NM_017791.3(FLVCR2):c.1474C>T (p.Arg492Trp) SNV Uncertain significance 314419 rs139495418 GRCh37: 14:76108206-76108206
GRCh38: 14:75641863-75641863
32 FLVCR2 , LOC102724153 NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu) SNV Uncertain significance 314409 rs372243784 GRCh37: 14:76045479-76045479
GRCh38: 14:75579136-75579136
33 FLVCR2 , LOC102724153 NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr) SNV Uncertain significance 314413 rs886050786 GRCh37: 14:76045919-76045919
GRCh38: 14:75579576-75579576
34 FLVCR2 NM_017791.3(FLVCR2):c.*756A>G SNV Uncertain significance 314428 rs78654241 GRCh37: 14:76113571-76113571
GRCh38: 14:75647228-75647228
35 FLVCR2 NM_017791.3(FLVCR2):c.1326C>T (p.Leu442=) SNV Uncertain significance 314417 rs886050787 GRCh37: 14:76107388-76107388
GRCh38: 14:75641045-75641045
36 FLVCR2 NM_017791.3(FLVCR2):c.*1588A>C SNV Uncertain significance 314434 rs764448107 GRCh37: 14:76114403-76114403
GRCh38: 14:75648060-75648060
37 FLVCR2 NM_017791.3(FLVCR2):c.*18C>T SNV Uncertain significance 314420 rs369026585 GRCh37: 14:76112833-76112833
GRCh38: 14:75646490-75646490
38 FLVCR2 , LOC102724153 NM_017791.3(FLVCR2):c.286A>G (p.Met96Val) SNV Uncertain significance 314410 rs199805789 GRCh37: 14:76045601-76045601
GRCh38: 14:75579258-75579258
39 FLVCR2 NM_017791.3(FLVCR2):c.*517C>T SNV Uncertain significance 314425 rs188459017 GRCh37: 14:76113332-76113332
GRCh38: 14:75646989-75646989
40 FLVCR2 NM_017791.3(FLVCR2):c.*155C>T SNV Uncertain significance 314422 rs562468033 GRCh37: 14:76112970-76112970
GRCh38: 14:75646627-75646627
41 FLVCR2 , LOC102724153 NM_017791.3(FLVCR2):c.421G>A (p.Val141Met) SNV Uncertain significance 314412 rs193042691 GRCh37: 14:76045736-76045736
GRCh38: 14:75579393-75579393
42 FLVCR2 NM_017791.3(FLVCR2):c.*1633A>C SNV Uncertain significance 314435 rs552943781 GRCh37: 14:76114448-76114448
GRCh38: 14:75648105-75648105
43 FLVCR2 NM_017791.3(FLVCR2):c.*379T>C SNV Uncertain significance 314424 rs886050789 GRCh37: 14:76113194-76113194
GRCh38: 14:75646851-75646851
44 FLVCR2 , LOC102724153 NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg) SNV Uncertain significance 314408 rs768707435 GRCh37: 14:76045393-76045393
GRCh38: 14:75579050-75579050
45 FLVCR2 NM_017791.3(FLVCR2):c.953-15C>T SNV Uncertain significance 314416 rs188707531 GRCh37: 14:76099957-76099957
GRCh38: 14:75633614-75633614
46 FLVCR2 , LOC102724153 NM_017791.2(FLVCR2):c.329_334delACATCT (p.Asn110_Phe112delinsIle) Deletion Uncertain significance 1088 rs746459536 GRCh37: 14:76045644-76045649
GRCh38: 14:75579301-75579306
47 FLVCR2 NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg) SNV Uncertain significance 1091 rs267606823 GRCh37: 14:76090982-76090982
GRCh38: 14:75624639-75624639
48 FLVCR2 NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs) Deletion Uncertain significance 631714 rs779784201 GRCh37: 14:76105727-76105728
GRCh38: 14:75639384-75639385
49 FLVCR2 NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu) SNV Uncertain significance 631715 rs1566799791 GRCh37: 14:76112814-76112814
GRCh38: 14:75646471-75646471
50 FLVCR2 NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys) SNV Uncertain significance 631716 rs1566799795 GRCh37: 14:76112815-76112815
GRCh38: 14:75646472-75646472

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

72
# 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 rs155812105

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

3 CDC
7 CNVD
9 Cosmic
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11 DGIdb
17 EFO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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