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 73
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 73 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 reduced tendon reflexes

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 11)
# Related Disease Score Top Affiliating Genes
1 posterior column ataxia with retinitis pigmentosa 32.9 FLVCR1 FLVCR1-DT
2 retinitis pigmentosa 10.4
3 leber congenital amaurosis 4 10.4
4 retinitis 10.4
5 neuropathy 10.0
6 aceruloplasminemia 9.9
7 ataxia-oculomotor apraxia 3 9.9
8 leukemia 9.9
9 scoliosis 9.9
10 autonomic neuropathy 9.9
11 sensory peripheral neuropathy 9.9

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



Diseases related to Posterior Column Ataxia

Symptoms & Phenotypes for Posterior Column Ataxia

Symptoms via clinical synopsis from OMIM:

57
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
Misc:
age of onset between 19 and 30 years

Skel:
scoliosis


Clinical features from OMIM:

176250

Human phenotypes related to Posterior Column Ataxia:

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

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 14)
# Title Authors Year
1
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
2
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
3
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. ( 24628582 )
2014
4
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. ( 22483575 )
2012
5
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. ( 21267618 )
2011
6
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa. ( 21261601 )
2011
7
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. ( 21070897 )
2010
8
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. ( 15286160 )
2004
9
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. ( 10830426 )
2000
10
[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy]. ( 10614159 )
1999
11
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. ( 9921862 )
1999
12
Autosomal recessive posterior column ataxia and retinitis pigmentosa. ( 9855554 )
1998
13
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. ( 9409377 )
1997
14
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....