MCID: SPN097
MIFTS: 38

Spinocerebellar Ataxia 23

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

Aliases & Classifications for Spinocerebellar Ataxia 23

MalaCards integrated aliases for Spinocerebellar Ataxia 23:

Name: Spinocerebellar Ataxia 23 54 50 71 29 13 69
Spinocerebellar Ataxia Type 23 12 50 56 14
Sca23 50 56 71

Characteristics:

Orphanet epidemiological data:

56
spinocerebellar ataxia type 23
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset after age 40 years


HPO:

32
spinocerebellar ataxia 23:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 610245
Disease Ontology 12 DOID:0050973
Orphanet 56 ORPHA101108
MESH via Orphanet 43 C537201
UMLS via Orphanet 70 C1853250
ICD10 via Orphanet 34 G11.2
MedGen 40 C1853250
MeSH 42 D020754

Summaries for Spinocerebellar Ataxia 23

UniProtKB/Swiss-Prot : 71 Spinocerebellar ataxia 23: 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. SCA23 is an adult-onset autosomal dominant form characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria.

MalaCards based summary : Spinocerebellar Ataxia 23, also known as spinocerebellar ataxia type 23, is related to spinocerebellar ataxia type23 and ataxia, and has symptoms including dysarthria, tremor and hyperreflexia. An important gene associated with Spinocerebellar Ataxia 23 is PDYN (Prodynorphin), and among its related pathways/superpathways are Peptide ligand-binding receptors and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Heptavalent Pneumococcal Conjugate Vaccine and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, eye and cerebellum.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on spinocerebellar ataxia.

OMIM : 54
Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (610245)

Related Diseases for Spinocerebellar Ataxia 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

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

id Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia type23 10.8
2 ataxia 9.9
3 mental retardation, autosomal recessive 54 9.6 NPS TACR1
4 cutaneous porphyria 9.5 NPS TACR1
5 albinism, oculocutaneous, type v 9.5 NPS TACR1
6 meconium aspiration syndrome 9.5 NPS PDYN
7 perry syndrome 9.4 NPS TACR1
8 personality disorder 9.1 NPS PDYN
9 polyglucosan body myopathy 1 with or without immunodeficiency 9.0 NPS PDYN TACR1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 23:



Diseases related to Spinocerebellar Ataxia 23

Symptoms & Phenotypes for Spinocerebellar Ataxia 23

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dysarthria
hyperreflexia
extensor plantar responses
gait ataxia
limb ataxia
more
Neurologic- Peripheral Nervous System:
decreased vibratory sense in the lower limbs
mixed axonal polyneuropathy

Head And Neck- Eyes:
slow saccades
ocular dysmetria


Clinical features from OMIM:

610245

Human phenotypes related to Spinocerebellar Ataxia 23:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 tremor 32 occasional (7.5%) HP:0001337
3 hyperreflexia 32 HP:0001347
4 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
5 gait ataxia 32 HP:0002066
6 limb ataxia 32 HP:0002070
7 cerebellar atrophy 32 HP:0001272
8 sensorimotor neuropathy 32 HP:0007141
9 dysmetria 32 HP:0001310
10 babinski sign 32 HP:0003487
11 neuronal loss in central nervous system 32 HP:0002529
12 slow saccadic eye movements 32 HP:0000514
13 impaired vibration sensation in the lower limbs 32 HP:0002166
14 cns demyelination 32 HP:0007305

UMLS symptoms related to Spinocerebellar Ataxia 23:


gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 23

Drugs for Spinocerebellar Ataxia 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 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 23

Genetic Tests for Spinocerebellar Ataxia 23

Genetic tests related to Spinocerebellar Ataxia 23:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 23 29

Anatomical Context for Spinocerebellar Ataxia 23

MalaCards organs/tissues related to Spinocerebellar Ataxia 23:

39
Spinal Cord, Eye, Cerebellum

Publications for Spinocerebellar Ataxia 23

Articles related to Spinocerebellar Ataxia 23:

id Title Authors Year
1
The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene. ( 25595316 )
2015

Variations for Spinocerebellar Ataxia 23

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 23:

71
id Symbol AA change Variation ID SNP ID
1 PDYN p.Arg138Ser VAR_064913 rs267606941
2 PDYN p.Leu211Ser VAR_064914 rs267606940
3 PDYN p.Arg212Trp VAR_064915 rs201486601
4 PDYN p.Arg215Cys VAR_064916 rs267606939
5 PDYN p.Cys22Tyr VAR_072266 rs773876922
6 PDYN p.Arg206Cys VAR_072268 rs575606358
7 PDYN p.Arg206His VAR_072269
8 PDYN p.Gly227Asp VAR_072270

ClinVar genetic disease variations for Spinocerebellar Ataxia 23:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PDYN NM_024411.4(PDYN): c.414G> T (p.Arg138Ser) single nucleotide variant Pathogenic rs267606941 GRCh37 Chromosome 20, 1961320: 1961320
2 PDYN NM_024411.4(PDYN): c.643C> T (p.Arg215Cys) single nucleotide variant Pathogenic rs267606939 GRCh37 Chromosome 20, 1961091: 1961091
3 PDYN NM_024411.4(PDYN): c.632T> C (p.Leu211Ser) single nucleotide variant Pathogenic rs267606940 GRCh37 Chromosome 20, 1961102: 1961102
4 PDYN NM_024411.4(PDYN): c.634C> T (p.Arg212Trp) single nucleotide variant Pathogenic rs201486601 GRCh37 Chromosome 20, 1961100: 1961100

Expression for Spinocerebellar Ataxia 23

Search GEO for disease gene expression data for Spinocerebellar Ataxia 23.

Pathways for Spinocerebellar Ataxia 23

GO Terms for Spinocerebellar Ataxia 23

Cellular components related to Spinocerebellar Ataxia 23 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.62 PDYN TACR1

Biological processes related to Spinocerebellar Ataxia 23 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.26 PDYN TACR1
2 neuropeptide signaling pathway GO:0007218 9.16 NPS PDYN
3 positive regulation of synaptic transmission, GABAergic GO:0032230 8.96 NPS TACR1
4 positive regulation of action potential GO:0045760 8.62 NPS TACR1

Sources for Spinocerebellar Ataxia 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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