MCID: PST040
MIFTS: 21

Posterior Column Ataxia

Categories: Rare diseases

Aliases & Classifications for Posterior Column Ataxia

MalaCards integrated aliases for Posterior Column Ataxia:

Name: Posterior Column Ataxia 58 54 74
Biemond Ataxia 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
posterior column ataxia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 176250
MedGen 43 C1867923
UMLS 74 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 retinitis pigmentosa. An important gene associated with Posterior Column Ataxia is FLVCR1 (Feline Leukemia Virus Subgroup C Cellular Receptor 1). Related phenotypes are ataxia and scoliosis

Description from OMIM: 176250

Related Diseases for Posterior Column Ataxia

Diseases related to Posterior Column Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 posterior column ataxia with retinitis pigmentosa 33.8 FLVCR1 FLVCR1-DT
2 retinitis pigmentosa 10.5
3 leber congenital amaurosis 4 10.5
4 retinitis 10.5
5 ataxia and polyneuropathy, adult-onset 10.3
6 neuropathy 10.1
7 aceruloplasminemia 10.0
8 leukemia 10.0
9 autosomal recessive disease 10.0
10 scoliosis 10.0
11 autonomic neuropathy 10.0
12 sensory peripheral neuropathy 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 scoliosis 33 HP:0002650
3 impaired proprioception 33 HP:0010831
4 reduced tendon reflexes 33 HP:0001315
5 impaired vibratory sensation 33 HP:0002495

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 16)
# Title Authors Year
1
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. ( 30656474 )
2019
2
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
3
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. ( 30444160 )
2018
4
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
5
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. ( 24628582 )
2015
6
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. ( 22483575 )
2012
7
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa. ( 21261601 )
2011
8
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. ( 21267618 )
2011
9
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. ( 21070897 )
2010
10
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. ( 15286160 )
2004
11
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. ( 10830426 )
2000
12
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. ( 9921862 )
1999
13
[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy]. ( 10614159 )
1999
14
Autosomal recessive posterior column ataxia and retinitis pigmentosa. ( 9855554 )
1998
15
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. ( 9409377 )
1997
16
Familial posterior column ataxia (Biemond's) with scoliosis. ( 4761598 )
1973

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

Sources for Posterior Column Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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