MCID: SPN335
MIFTS: 32

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare 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 15
Spinocerebellar Ataxia Autosomal Recessive with Axonal Neuropathy 54 30 6
Scan1 12 25 54
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive 25
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 12
Spinocerebellar Ataxia with Axonal Neuropathy Type 1 54
Spinocerebellar Ataxia with Axonal Neuropathy 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0090115
ICD10 34 G60.2

Summaries for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 94124Disease definitionSpinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia Type 1 with Axonal Neuropathy, also known as spinocerebellar ataxia autosomal recessive with axonal neuropathy, is related to axonal neuropathy and hereditary ataxia. An important gene associated with Spinocerebellar Ataxia Type 1 with Axonal Neuropathy is TDP1 (Tyrosyl-DNA Phosphodiesterase 1), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include brain and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and behavior/neurological

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.

GeneReviews: NBK1105

Related Diseases for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Diseases in the Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 family:

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3
Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 axonal neuropathy 30.8 GDAP1 TDP1
2 hereditary ataxia 30.2 APTX TDP1 TOP1
3 neuropathy 30.1 GDAP1 PRX SBF2 TDP1
4 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 12.2
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
6 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.3
7 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 11.1
8 autosomal dominant cerebellar ataxia 10.5
9 ataxia and polyneuropathy, adult-onset 10.2
10 early-onset glaucoma 10.0 MTMR2 SBF2
11 charcot-marie-tooth disease, type 4j 10.0 MTMR2 SBF2
12 severe combined immunodeficiency with sensitivity to ionizing radiation 9.9 LIG4 TDP1
13 charcot-marie-tooth disease, demyelinating, type 1a 9.8 GDAP1 MTMR2
14 neuropathy, hereditary, with liability to pressure palsies 9.8 GDAP1 MTMR2
15 hypertrophic neuropathy of dejerine-sottas 9.7 GDAP1 MTMR2 PRX
16 charcot-marie-tooth disease, type 4b3 9.7 GDAP1 MTMR2 SBF2
17 sensory peripheral neuropathy 9.7 GDAP1 MTMR2 PRX
18 peripheral nervous system disease 9.7 GDAP1 MTMR2 PRX
19 charcot-marie-tooth disease, axonal, type 2e 9.6 GDAP1 MTMR2 SBF2
20 charcot-marie-tooth disease and deafness 9.6 GDAP1 MTMR2
21 charcot-marie-tooth disease 9.5 GDAP1 MTMR2 PRX SBF2
22 tooth disease 9.5 GDAP1 MTMR2 PRX SBF2
23 charcot-marie-tooth disease, type 4b1 9.5 GDAP1 MTMR2 PRX SBF2
24 charcot-marie-tooth disease, demyelinating, type 4f 9.3 GDAP1 MTMR2 PRX SBF2 TDP1
25 charcot-marie-tooth disease, type 4b2 9.3 GDAP1 MTMR2 PRX SBF2 TDP1
26 charcot-marie-tooth disease, type 4a 9.3 GDAP1 MTMR2 PRX SBF2 TDP1

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

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 APTX LIG4 TDP1 TOP1

MGI Mouse Phenotypes related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 GDAP1 LIG4 MTMR2 PRX SBF2 TDP1
2 nervous system MP:0003631 9.1 GDAP1 LIG4 MTMR2 PRX SBF2 TDP1

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 30 TDP1

Anatomical Context for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

MalaCards organs/tissues related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

42
Brain, Eye

Publications for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Articles related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy:

# Title Authors Year
1
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )
2018
2
Spinocerebellar ataxia with axonal neuropathy. ( 20687496 )
2010
3
DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. ( 17045754 )
2007
4
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? ( 17948061 )
2007
5
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. ( 15744309 )
2005
6
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. ( 12244316 )
2002

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

Pathways related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.4 APTX LIG4 TDP1 TOP1

GO Terms for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

Cellular components related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vacuolar membrane GO:0005774 8.62 MTMR2 SBF2

Biological processes related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.54 APTX LIG4 TDP1
2 DNA repair GO:0006281 9.5 APTX LIG4 TDP1
3 DNA ligation GO:0006266 9.16 APTX LIG4
4 double-strand break repair GO:0006302 9.13 APTX LIG4 TDP1
5 protein tetramerization GO:0051262 8.96 SBF2
6 single strand break repair GO:0000012 8.8 APTX LIG4 TDP1

Molecular functions related to Spinocerebellar Ataxia Type 1 with Axonal Neuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 9.13 APTX TDP1 TOP1
2 single-stranded DNA binding GO:0003697 8.8 APTX TDP1 TOP1

Sources for Spinocerebellar Ataxia Type 1 with Axonal Neuropathy

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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