SCAN1
MCID: SPN335
MIFTS: 27

Spinocerebellar Ataxia Type 1 with Axonal Neuropathy (SCAN1)

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 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

NIH Rare Diseases : 53 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 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy and neuropathy. 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 phenotype is Increased viability with MLN4924 (a NAE inhibitor).

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 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:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 33.3 TDP1 TOP1
2 neuropathy 30.3 PRX SBF2 TDP1
3 hereditary ataxia 30.1 APTX TDP1 TOP1
4 spinocerebellar ataxia with axonal neuropathy type 2 12.7
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
6 spinocerebellar ataxia, autosomal recessive 1 11.1
7 autosomal dominant cerebellar ataxia 10.3
8 axonal neuropathy 10.3
9 hypertrophic neuropathy of dejerine-sottas 9.8 MTMR2 PRX
10 early-onset glaucoma 9.8 MTMR2 SBF2
11 sensory peripheral neuropathy 9.8 MTMR2 PRX
12 charcot-marie-tooth disease, type 4b3 9.8 MTMR2 SBF2
13 charcot-marie-tooth disease, type 4j 9.8 MTMR2 SBF2
14 peripheral nervous system disease 9.8 MTMR2 PRX
15 charcot-marie-tooth disease 9.7 MTMR2 PRX SBF2
16 tooth disease 9.7 MTMR2 PRX SBF2
17 charcot-marie-tooth disease, type 4b1 9.7 MTMR2 PRX SBF2
18 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.7 MTMR2 PRX SBF2
19 charcot-marie-tooth disease, axonal, type 2e 9.6 MTMR2 SBF2
20 charcot-marie-tooth disease, demyelinating, type 4f 9.6 MTMR2 PRX SBF2 TDP1
21 charcot-marie-tooth disease, type 4b2 9.6 MTMR2 PRX SBF2 TDP1
22 charcot-marie-tooth disease, type 4a 9.6 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 APTX SMUG1 TDP1 TOP1

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

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

41
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
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

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

# Super pathways Score Top Affiliating Genes
1 11.27 APTX 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 9.5 APTX SMUG1 TDP1
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.37 APTX TDP1
3 DNA repair GO:0006281 9.33 APTX SMUG1 TDP1
4 double-strand break repair GO:0006302 9.26 APTX TDP1
5 protein tetramerization GO:0051262 8.96 MTMR2 SBF2
6 single strand break repair GO:0000012 8.62 APTX 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 hydrolase activity GO:0016787 9.55 APTX CANT1 MTMR2 SMUG1 TDP1
2 double-stranded DNA binding GO:0003690 9.13 APTX TDP1 TOP1
3 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 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
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