SCAN1
MCID: SPN430
MIFTS: 31

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 (SCAN1)

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

Name: Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 58
Scan1 58 60 76 56
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 76
Ataxia, Spinocerebellar, Autosomal Recessive with Axonal Neuropathy 41
Spinocerebellar Ataxia, Autosomal Recessive with Axonal Neuropathy 13
Spinocerebellar Ataxia with Axonal Neuropathy Type 1 60

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia with axonal neuropathy type 1
Inheritance: Autosomal recessive;

HPO:

33
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1, also known as scan1, is related to spinocerebellar ataxia type 1 with axonal neuropathy and hereditary ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 is TDP1 (Tyrosyl-DNA Phosphodiesterase 1), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are ataxia and pes cavus

OMIM : 58 Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait (summary by Takashima et al., 2002). (607250)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

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, Autosomal Recessive, with Axonal Neuropathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia type 1 with axonal neuropathy 31.3 TDP1 TOP1
2 hereditary ataxia 29.7 TDP1 TOP1
3 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.3
4 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 11.1

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
2 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
3 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
4 hypercholesterolemia 60 33 frequent (33%) Frequent (79-30%) HP:0003124
5 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
6 impaired vibration sensation in the lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0002166
7 distal lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0009053
8 steppage gait 60 33 frequent (33%) Frequent (79-30%) HP:0003376
9 sensorimotor neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0007141
10 distal amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003693
11 hypoalbuminemia 60 33 frequent (33%) Frequent (79-30%) HP:0003073
12 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
13 spinocerebellar tract degeneration 60 33 frequent (33%) Frequent (79-30%) HP:0002503
14 gaze-evoked nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000640
15 pain insensitivity 60 33 frequent (33%) Frequent (79-30%) HP:0007021
16 global brain atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002283
17 impaired distal proprioception 60 33 frequent (33%) Frequent (79-30%) HP:0006858
18 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
19 intellectual disability 60 Excluded (0%)
20 peripheral neuropathy 60 Frequent (79-30%)
21 peripheral axonal neuropathy 33 HP:0003477

Clinical features from OMIM:

607250

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 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 8.62 TDP1 TOP1

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

42
Brain, Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Articles related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

# Title Authors Year
1
Subfunctionalization of duplicate MYB genes in Solanum commersonii generated the cold-induced ScAN2 and the anthocyanin regulator ScAN1. ( 28386931 )
2018
2
Tracking the processing of damaged DNA double-strand break ends by ligation-mediated PCR: increased persistence of 3'-phosphoglycolate termini in SCAN1 cells. ( 24371269 )
2014
3
In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation. ( 19211312 )
2009
4
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. ( 16935573 )
2006
5
SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity. ( 15920477 )
2005

Variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

76
# Symbol AA change Variation ID SNP ID
1 TDP1 p.His493Arg VAR_017144 rs119467003

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

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, Autosomal Recessive, with Axonal...

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 TDP1 TOP1

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

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

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 8.96 TDP1 TOP1
2 single-stranded DNA binding GO:0003697 8.62 TDP1 TOP1

Sources for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

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