MCID: SPN377
MIFTS: 24

Spinocerebellar Ataxia, Autosomal Recessive 23

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Eye diseases, Metabolic diseases, Ear diseases, Skin 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 54 29
Scar23 56 71
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Tud Deficiency 56
Spinocerebellar Ataxia Autosomal Recessive Type 23 56
Spinocerebellar Ataxia, Autosomal Recessive, 23 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Miscellaneous:
two unrelated families have been reported (last curated may 2016)
some patient may become wheelchair-bound
seizures may remit in childhood but then recur
onset of seizures in childhood (range infancy to 12 years)

Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 23

UniProtKB/Swiss-Prot : 71 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, and has symptoms including ataxia, seizures and intellectual disability. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 23 is TDP2 (Tyrosyl-DNA Phosphodiesterase 2). The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and cerebellum.

OMIM : 54
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 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia, Autosomal Recessive 10 Spinocerebellar Ataxia 7
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 30
Spinocerebellar Ataxia 12 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia, Autosomal Recessive 3 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 25
Spinocerebellar Ataxia, Autosomal Recessive 13 Spinocerebellar Ataxia, Autosomal Recessive 8
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 18
Spinocerebellar Ataxia 32 Spinocerebellar Ataxia, Autosomal Recessive 1
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 17
Spinocerebellar Ataxia, Autosomal Recessive 7 Spinocerebellar Ataxia 20
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 4
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia 28 Spinocerebellar Ataxia 26
Spinocerebellar Ataxia 6 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 23

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
cerebellar ataxia
seizures, refractory
intellectual disability
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:

32
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 intellectual disability 32 HP:0001249

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 23

Drugs for Spinocerebellar Ataxia, Autosomal Recessive 23 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
2 Vaccines Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
2 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:

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

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 23

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

39
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
id 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.413_414delCCinsAA (p.Ser138Ter) indel Pathogenic rs879255601 GRCh38 Chromosome 6, 24658572: 24658573

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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