MCID: SPN097
MIFTS: 37

Spinocerebellar Ataxia 23

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

Aliases & Classifications for Spinocerebellar Ataxia 23

MalaCards integrated aliases for Spinocerebellar Ataxia 23:

Name: Spinocerebellar Ataxia 23 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 23 12 53 59 15
Sca23 57 53 59 75
Ataxia, Spinocerebellar, Type 23 40

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 23
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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: 59  
Rare neurological diseases


External Ids:

OMIM 57 610245
Disease Ontology 12 DOID:0050973
Orphanet 59 ORPHA101108
UMLS via Orphanet 74 C1853250
ICD10 via Orphanet 34 G11.2
MESH via Orphanet 45 C537201
MedGen 42 C1853250
MeSH 44 D020754
UMLS 73 C1853250

Summaries for Spinocerebellar Ataxia 23

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101108Disease definitionSpinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.EpidemiologyThis subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years.Clinical descriptionThe clinical features, head magnetic resonance imaging (MRI), and neuropathological findings are indistinguishable from other SCA subtypes.EtiologySCA23 maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease.PrognosisPrognosis may be good in some cases. Disease progression can be slow. Wheelchair dependence can occur more than 20 years after symptomatic disease onset.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 23, also known as spinocerebellar ataxia type 23, is related to autosomal dominant cerebellar ataxia and aceruloplasminemia, and has symptoms including gait ataxia 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. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are dysarthria and hyperreflexia

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Spinocerebellar Ataxia 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

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 9.9
2 aceruloplasminemia 9.9
3 ataxia-oculomotor apraxia 3 9.9
4 dissociative amnesia 9.6 NPS PDYN
5 retinitis pigmentosa 68 9.5 NPS TACR1
6 diverticulitis of colon 9.5 NPS TACR1
7 perry syndrome 9.4 NPS TACR1
8 disease of mental health 9.3 NPS PDYN
9 migraine with or without aura 1 9.2 NPS TACR1
10 narcolepsy 9.0 NPS PDYN

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:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
gait ataxia
limb ataxia
cerebellar atrophy
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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
3 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
4 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
5 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
6 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
7 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
8 progressive cerebellar ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002073
9 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
10 impaired distal vibration sensation 59 32 frequent (33%) Frequent (79-30%) HP:0006886
11 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
12 tremor 32 occasional (7.5%) HP:0001337
13 cerebellar atrophy 32 HP:0001272
14 sensorimotor neuropathy 32 HP:0007141
15 impaired vibration sensation in the lower limbs 32 HP:0002166
16 neuronal loss in central nervous system 32 HP:0002529
17 cns demyelination 32 HP:0007305

UMLS symptoms related to Spinocerebellar Ataxia 23:


gait ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 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 23

Genetic Tests for Spinocerebellar Ataxia 23

Genetic tests related to Spinocerebellar Ataxia 23:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 23 29 PDYN

Anatomical Context for Spinocerebellar Ataxia 23

MalaCards organs/tissues related to Spinocerebellar Ataxia 23:

41
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 23

Articles related to Spinocerebellar Ataxia 23:

# 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:

75
# 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 rs1004881058Spinocerebellar
8 PDYN p.Gly227Asp VAR_072270

ClinVar genetic disease variations for Spinocerebellar Ataxia 23:

6
(show all 14)
# 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.414G> T (p.Arg138Ser) single nucleotide variant Pathogenic rs267606941 GRCh38 Chromosome 20, 1980674: 1980674
3 PDYN NM_024411.4(PDYN): c.643C> T (p.Arg215Cys) single nucleotide variant Pathogenic rs267606939 GRCh37 Chromosome 20, 1961091: 1961091
4 PDYN NM_024411.4(PDYN): c.643C> T (p.Arg215Cys) single nucleotide variant Pathogenic rs267606939 GRCh38 Chromosome 20, 1980445: 1980445
5 PDYN NM_024411.4(PDYN): c.632T> C (p.Leu211Ser) single nucleotide variant Pathogenic rs267606940 GRCh37 Chromosome 20, 1961102: 1961102
6 PDYN NM_024411.4(PDYN): c.632T> C (p.Leu211Ser) single nucleotide variant Pathogenic rs267606940 GRCh38 Chromosome 20, 1980456: 1980456
7 PDYN NM_024411.4(PDYN): c.634C> T (p.Arg212Trp) single nucleotide variant Pathogenic rs201486601 GRCh37 Chromosome 20, 1961100: 1961100
8 PDYN NM_024411.4(PDYN): c.634C> T (p.Arg212Trp) single nucleotide variant Pathogenic rs201486601 GRCh38 Chromosome 20, 1980454: 1980454
9 PDYN NM_024411.4(PDYN): c.217A> G (p.Thr73Ala) single nucleotide variant Uncertain significance rs786205212 GRCh37 Chromosome 20, 1961517: 1961517
10 PDYN NM_024411.4(PDYN): c.217A> G (p.Thr73Ala) single nucleotide variant Uncertain significance rs786205212 GRCh38 Chromosome 20, 1980871: 1980871
11 PDYN NM_024411.4(PDYN): c.600T> C (p.His200=) single nucleotide variant Benign rs6045819 GRCh37 Chromosome 20, 1961134: 1961134
12 PDYN NM_024411.4(PDYN): c.600T> C (p.His200=) single nucleotide variant Benign rs6045819 GRCh38 Chromosome 20, 1980488: 1980488
13 PDYN NM_024411.4(PDYN): c.436A> C (p.Met146Leu) single nucleotide variant Likely benign rs77155664 GRCh38 Chromosome 20, 1980652: 1980652
14 PDYN NM_024411.4(PDYN): c.436A> C (p.Met146Leu) single nucleotide variant Likely benign rs77155664 GRCh37 Chromosome 20, 1961298: 1961298

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.43 NPS PDYN TACR1
2 chemical synaptic transmission GO:0007268 9.32 PDYN TACR1
3 neuropeptide signaling pathway GO:0007218 9.16 NPS PDYN
4 positive regulation of synaptic transmission, GABAergic GO:0032230 8.96 NPS TACR1
5 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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