MCID: SPN335
MIFTS: 16

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

MalaCards integrated aliases for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

Name: Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 12
Spinocerebellar Ataxia Autosomal Recessive with Axonal Neuropathy 53 29 6
Scan1 12 24 53
Ataxia, Spinocerebellar, Autosomal Recessive with Axonal Neuropathy 40
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive 24
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 12
Spinocerebellar Ataxia with Axonal Neuropathy Type 1 53
Spinocerebellar Ataxia with Axonal Neuropathy 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0090115
ICD10 33 G60.2

Summaries for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Disease Ontology : 12 A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has material basis in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.

MalaCards based summary : Spinocerebellar Ataxia Type 1 with Axonal Neuropathy, also known as spinocerebellar ataxia autosomal recessive with axonal neuropathy, is related to spinocerebellar ataxia with axonal neuropathy type 2 and spinocerebellar ataxia, autosomal recessive, with axonal neuropathy. An important gene associated with Spinocerebellar Ataxia Type 1 with Axonal Neuropathy is TDP1 (Tyrosyl-DNA Phosphodiesterase 1).

GeneReviews: NBK1105

Related Diseases for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Diseases in the Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy family:

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Diseases related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia with axonal neuropathy type 2 12.5
2 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11.7
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.2
4 spinocerebellar ataxia, autosomal recessive 1 10.9
5 autosomal dominant cerebellar ataxia 10.2
6 axonal neuropathy 10.2
7 neuropathy 10.2
8 hereditary ataxia 10.0

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:



Diseases related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Symptoms & Phenotypes for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Drugs & Therapeutics for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

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 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Genetic Tests for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Genetic tests related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Autosomal Recessive with Axonal Neuropathy 29 TDP1

Anatomical Context for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Publications for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Articles related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

# Title Authors Year
1
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive ( 20301284 )
1993

Variations for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

ClinVar genetic disease variations for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TDP1 NM_018319.3(TDP1): c.1478A> G (p.His493Arg) single nucleotide variant Pathogenic rs119467003 GRCh37 Chromosome 14, 90459764: 90459764
2 TDP1 NM_018319.3(TDP1): c.1478A> G (p.His493Arg) single nucleotide variant Pathogenic rs119467003 GRCh38 Chromosome 14, 89993420: 89993420

Expression for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy.

Pathways for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

GO Terms for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Sources for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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