MCID: PST036
MIFTS: 31

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 53 49 71 36 28 69
Pcarp 53 49 55 71
Axpc1 53 49 71
Ataxia, Posterior Column, with Retinitis Pigmentosa 53 13
Autosomal Recessive Posterior Column Ataxia and Retinitis Pigmentosa 55
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
posterior column ataxia-retinitis pigmentosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slowly progressive disorder


HPO:

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


Classifications:

Orphanet: 55  
Rare neurological diseases


Summaries for Posterior Column Ataxia with Retinitis Pigmentosa

NIH Rare Diseases : 49 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. Last updated: 5/31/2017

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 intellectual disability, scoliosis and optic atrophy. 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.

OMIM : 53 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 : 71 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 10.4
2 retinitis pigmentosa 10.4
3 ataxia and polyneuropathy, adult-onset 10.4
4 leber congenital amaurosis 4 10.4
5 retinitis 10.4
6 leukemia 10.1
7 autonomic neuropathy 10.1
8 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:

53
Neurologic Peripheral Nervous System:
loss of proprioception
areflexia
sensory ataxia
broad-based gait
positive romberg sign
more
Head And Neck Eyes:
optic atrophy
retinitis pigmentosa
ring scotoma (early)
night blindness (infancy and early childhood)
blindness by third decade
more
Genitourinary Bladder:
recurrent urinary tract infections
urinary incontinence

Skeletal Hands:
camptodactyly

Skeletal Spine:
scoliosis

Abdomen Gastroin testinal:
achalasia
gastrointestinal dysmotility

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:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 scoliosis 31 HP:0002650
3 optic atrophy 31 HP:0000648
4 blindness 31 HP:0000618
5 skeletal muscle atrophy 31 HP:0003202
6 nyctalopia 31 HP:0000662
7 achalasia 31 HP:0002571
8 areflexia 31 HP:0001284
9 recurrent urinary tract infections 31 HP:0000010
10 rod-cone dystrophy 31 HP:0000510
11 distal muscle weakness 31 HP:0002460
12 sensory ataxia 31 HP:0010871
13 camptodactyly 31 HP:0012385
14 urinary incontinence 31 HP:0000020
15 broad-based gait 31 HP:0002136
16 joint contracture of the hand 31 HP:0009473
17 scotoma 31 HP:0000575
18 decreased sensory nerve conduction velocity 31 HP:0003448
19 impaired vibration sensation in the lower limbs 31 HP:0002166
20 positive romberg sign 31 HP:0002403
21 bone spicule pigmentation of the retina 31 HP:0007737
22 undetectable electroretinogram 31 HP:0000550
23 ring scotoma 31 HP:0030529

UMLS symptoms related to Posterior Column Ataxia with Retinitis Pigmentosa:


loss of proprioception, ataxia, sensory, ataxia

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 28 FLVCR1

Anatomical Context for Posterior Column Ataxia with Retinitis Pigmentosa

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

38
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:

71
# 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
# 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.721G> A (p.Ala241Thr) single nucleotide variant Pathogenic rs267606819 GRCh37 Chromosome 1, 213032515: 213032515
3 FLVCR1 NM_014053.3(FLVCR1): c.574T> C (p.Cys192Arg) single nucleotide variant Pathogenic rs267606821 GRCh37 Chromosome 1, 213032368: 213032368
4 FLVCR1 FLVCR1, GLY493ARG single nucleotide variant Pathogenic

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
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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