MCID: PST040
MIFTS: 23

Posterior Column Ataxia

Categories: Rare diseases

Aliases & Classifications for Posterior Column Ataxia

MalaCards integrated aliases for Posterior Column Ataxia:

Name: Posterior Column Ataxia 56 52 71
Biemond Ataxia 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
posterior column ataxia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 176250
MedGen 41 C1867923
UMLS 71 C1867923

Summaries for Posterior Column Ataxia

MalaCards based summary : Posterior Column Ataxia, also known as biemond ataxia, is related to posterior column ataxia with retinitis pigmentosa and ataxia and polyneuropathy, adult-onset. An important gene associated with Posterior Column Ataxia is FLVCR1 (FLVCR Heme Transporter 1). Related phenotypes are scoliosis and ataxia

More information from OMIM: 176250

Related Diseases for Posterior Column Ataxia

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



Diseases related to Posterior Column Ataxia

Symptoms & Phenotypes for Posterior Column Ataxia

Human phenotypes related to Posterior Column Ataxia:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 ataxia 31 HP:0001251
3 reduced tendon reflexes 31 HP:0001315
4 impaired vibratory sensation 31 HP:0002495
5 impaired proprioception 31 HP:0010831

Symptoms via clinical synopsis from OMIM:

56
Skel:
scoliosis

Misc:
age of onset between 19 and 30 years

Neuro:
ataxia due to posterior column degeneration
progressive vibratory and postural sensibility loss
muscle stretch reflex losses
flexor plantar responses
pain and temperature sensations preserved
more

Clinical features from OMIM:

176250

Drugs & Therapeutics for Posterior Column Ataxia

Search Clinical Trials , NIH Clinical Center for Posterior Column Ataxia

Genetic Tests for Posterior Column Ataxia

Anatomical Context for Posterior Column Ataxia

Publications for Posterior Column Ataxia

Articles related to Posterior Column Ataxia:

(showing 27, show less)
# Title Authors PMID Year
1
Familial posterior column ataxia (Biemond's) with scoliosis. 56 61
4761598 1973
2
[Spinal-cerebellar degeneration]. 56
14872985 1951
3
Expression and purification of the heme exporter FLVCR1a. 61
32278001 2020
4
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis. 61
32466579 2020
5
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene. 61
32039643 2020
6
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. 61
30656474 2019
7
A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa. 61
31884612 2019
8
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. 61
30444160 2018
9
Potential Treatment of Retinal Diseases with Iron Chelators. 61
30360383 2018
10
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. 61
29192808 2018
11
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 61
28766925 2017
12
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 61
27923065 2016
13
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 61
24628582 2015
14
Heme and FLVCR-related transporter families SLC48 and SLC49. 61
23506900 2013
15
[Present efforts in the medical genome center at the University of Tokyo Hospital]. 61
23475516 2013
16
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. 61
22483575 2012
17
[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers]. 61
22277444 2011
18
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 61
21267618 2011
19
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa. 61
21261601 2011
20
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 61
21070897 2010
21
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. 61
15286160 2004
22
Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection. 61
10892843 2000
23
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. 61
10830426 2000
24
[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy]. 61
10614159 1999
25
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. 61
9921862 1999
26
Autosomal recessive posterior column ataxia and retinitis pigmentosa. 61
9855554 1998
27
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 61
9409377 1997

Variations for Posterior Column Ataxia

Expression for Posterior Column Ataxia

Search GEO for disease gene expression data for Posterior Column Ataxia.

Pathways for Posterior Column Ataxia

GO Terms for Posterior Column Ataxia

Biological processes related to Posterior Column Ataxia according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 heme export GO:0097037 8.62 FLVCR2 FLVCR1

Molecular functions related to Posterior Column Ataxia according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.16 FLVCR2 FLVCR1
2 heme transporter activity GO:0015232 8.96 FLVCR2 FLVCR1
3 cofactor transmembrane transporter activity GO:0051184 8.62 FLVCR2 FLVCR1

Sources for Posterior Column Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....