SCAR23
MCID: SPN377
MIFTS: 30

Spinocerebellar Ataxia, Autosomal Recessive 23 (SCAR23)

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

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 23

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 23:

Name: Spinocerebellar Ataxia, Autosomal Recessive 23 58 30 6
Scar23 58 60 76
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Tud Deficiency 60
Spinocerebellar Ataxia Autosomal Recessive Type 23 60
Spinocerebellar Ataxia, Autosomal Recessive, 23 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
some patients may become wheelchair-bound
onset of seizures in childhood (range infancy to 12 years)
seizures may remit in childhood but then recur


HPO:

33
spinocerebellar ataxia, autosomal recessive 23:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 23

UniProtKB/Swiss-Prot : 76 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, also known as scar23, is related to ataxia and polyneuropathy, adult-onset and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 23 is TDP2 (Tyrosyl-DNA Phosphodiesterase 2). Affiliated tissues include spinal cord, cerebellum and skin, and related phenotypes are intellectual disability and seizures

OMIM : 58 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 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 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.3
2 autosomal dominant cerebellar ataxia 10.3

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 23

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 23:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 abnormal facial shape 60 33 hallmark (90%) Very frequent (99-80%) HP:0001999
4 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
5 brachycephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000248
6 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
7 easy fatigability 33 HP:0003388
8 hyponatremia 33 HP:0002902

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
cerebellar ataxia
hypotonia
seizures, refractory
normal early development

Muscle Soft Tissue:
easy fatigability
decreased complex i/iii and ii/iii activity seen on muscle biopsy

Hematology:
neutropenia

Cardiovascular Heart:
cardiac arrhythmia

Abdomen Gastrointestinal:
gastric dysmotility

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
hyponatremia
high lactate/pyruvate ratio

Neurologic Behavioral Psychiatric Manifestations:
hypersomnia

Head And Neck Face:
dysmorphic facial features, nonspecific

Clinical features from OMIM:

616949

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 23

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, 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 30 TDP2

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 23

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

42
Spinal Cord, Cerebellum, Skin, Liver, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive 23

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 23:

# Title Authors Year
1
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). ( 30109272 )
2018
2
Erratum: Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). ( 30588497 )
2018
3
TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. ( 24658003 )
2014

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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75 UMLS via Orphanet
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