MCID: PST040
MIFTS: 22

Posterior Column Ataxia

Categories: Rare diseases

Aliases & Classifications for Posterior Column Ataxia

MalaCards integrated aliases for Posterior Column Ataxia:

Name: Posterior Column Ataxia 57 53 72
Biemond Ataxia 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
posterior column ataxia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 176250
MedGen 42 C1867923
UMLS 72 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 (Feline Leukemia Virus Subgroup C Cellular Receptor 1). Related phenotypes are ataxia and scoliosis

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:

32
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 scoliosis 32 HP:0002650
3 impaired proprioception 32 HP:0010831
4 reduced tendon reflexes 32 HP:0001315
5 impaired vibratory sensation 32 HP:0002495

Symptoms via clinical synopsis from OMIM:

57
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:

(show all 23)
# Title Authors PMID Year
1
Familial posterior column ataxia (Biemond's) with scoliosis. 38 8
4761598 1973
2
[Spinal-cerebellar degeneration]. 8
14872985 1951
3
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. 38
30656474 2019
4
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. 38
30444160 2018
5
Potential Treatment of Retinal Diseases with Iron Chelators. 38
30360383 2018
6
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. 38
29192808 2018
7
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 38
28766925 2017
8
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 38
27923065 2016
9
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 38
24628582 2015
10
Heme and FLVCR-related transporter families SLC48 and SLC49. 38
23506900 2013
11
[Present efforts in the medical genome center at the University of Tokyo Hospital]. 38
23475516 2013
12
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. 38
22483575 2012
13
[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers]. 38
22277444 2011
14
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 38
21267618 2011
15
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa. 38
21261601 2011
16
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 38
21070897 2010
17
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. 38
15286160 2004
18
Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection. 38
10892843 2000
19
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. 38
10830426 2000
20
[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy]. 38
10614159 1999
21
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. 38
9921862 1999
22
Autosomal recessive posterior column ataxia and retinitis pigmentosa. 38
9855554 1998
23
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 38
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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.96 FLVCR2 FLVCR1
2 heme transporter activity GO:0015232 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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