MCID: SPN377
MIFTS: 25

Spinocerebellar Ataxia, Autosomal Recessive 23

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 23

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 23:

Name: Spinocerebellar Ataxia, Autosomal Recessive 23 57 29 6
Scar23 57 59 75
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Tud Deficiency 59
Spinocerebellar Ataxia Autosomal Recessive Type 23 59
Spinocerebellar Ataxia, Autosomal Recessive, 23 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated may 2016)
onset of seizures in childhood (range infancy to 12 years)
seizures may remit in childhood but then recur
some patient may become wheelchair-bound


HPO:

32
spinocerebellar ataxia, autosomal recessive 23:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 23

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia, autosomal recessive, 23: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR23 patients manifest epilepsy, intellectual disability, and gait ataxia.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 23, is also known as scar23. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 23 is TDP2 (Tyrosyl-DNA Phosphodiesterase 2). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are intellectual disability and seizures

OMIM : 57 Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez-Herreros et al., 2014). (616949)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 23

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia, Autosomal Recessive 4 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia 21 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia, Autosomal Recessive 6 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia 25 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 35
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia 36
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 14
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 38
Spinocerebellar Ataxia 40 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia, Autosomal Recessive 20
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia, Autosomal Recessive 21
Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 22
Spinocerebellar Ataxia, Autosomal Recessive 23 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive 24 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 26 Spinocerebellar Ataxia 44
Spinocerebellar Ataxia 45 Spinocerebellar Ataxia 46
Spinocerebellar Ataxia 47 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 23

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
seizures, refractory
cerebellar ataxia
normal early development

Head And Neck Face:
dysmorphic facial features, nonspecific


Clinical features from OMIM:

616949

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 23:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 brachycephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000248
6 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 23

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 23

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 23

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 23:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 23 29 TDP2

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 23

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 23:

41
Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia, Autosomal Recessive 23

Variations for Spinocerebellar Ataxia, Autosomal Recessive 23

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TDP2 NM_016614.2(TDP2): c.425+1G> A single nucleotide variant Pathogenic rs372245668 GRCh38 Chromosome 6, 24658560: 24658560
2 TDP2 NM_016614.2(TDP2): c.425+1G> A single nucleotide variant Pathogenic rs372245668 GRCh37 Chromosome 6, 24658788: 24658788
3 TDP2 NM_016614.2(TDP2): c.413_414delCCinsAA (p.Ser138Ter) indel Pathogenic rs879255601 GRCh38 Chromosome 6, 24658572: 24658573
4 TDP2 NM_016614.2(TDP2): c.413_414delCCinsAA (p.Ser138Ter) indel Pathogenic rs879255601 GRCh37 Chromosome 6, 24658800: 24658801

Expression for Spinocerebellar Ataxia, Autosomal Recessive 23

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 23.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 23

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 23

Sources for Spinocerebellar Ataxia, Autosomal Recessive 23

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74 UMLS via Orphanet
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