SCA23
MCID: SPN097
MIFTS: 45

Spinocerebellar Ataxia 23 (SCA23)

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 23

MalaCards integrated aliases for Spinocerebellar Ataxia 23:

Name: Spinocerebellar Ataxia 23 58 54 76 30 13 6 74
Spinocerebellar Ataxia Type 23 12 54 60 15
Sca23 58 54 60 76
Ataxia, Spinocerebellar, Type 23 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 23
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset after age 40 years


HPO:

33
spinocerebellar ataxia 23:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050973
OMIM 58 610245
MeSH 45 D020754
MESH via Orphanet 46 C537201
ICD10 via Orphanet 35 G11.2
UMLS via Orphanet 75 C1853250
Orphanet 60 ORPHA101108
MedGen 43 C1853250
UMLS 74 C1853250

Summaries for Spinocerebellar Ataxia 23

NIH Rare Diseases : 54 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 dissociative amnesia 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 Signaling by GPCR and Peptide ligand-binding receptors. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are hyperreflexia and gait ataxia

Disease Ontology : 12 An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has material basis in mutation in the PDYN gene.

OMIM : 58 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 : 76 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 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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 dissociative amnesia 10.1 NPS PDYN
2 aceruloplasminemia 10.1
3 ataxia and polyneuropathy, adult-onset 10.1
4 autosomal dominant cerebellar ataxia 10.1
5 retinitis pigmentosa 68 10.0 NPS TACR1
6 diverticulitis of colon 10.0 NPS TACR1
7 causalgia 9.9 NPS TACR1
8 perry syndrome 9.9 NPS TACR1
9 withdrawal disorder 9.8 OPRM1 PDYN
10 heroin dependence 9.7 OPRD1 OPRM1 PDYN
11 disease of mental health 9.7 NPS OPRM1 PDYN
12 opioid abuse 9.6 OPRL1 OPRM1 PDYN
13 neonatal abstinence syndrome 9.6 OPRD1 OPRK1 OPRM1
14 morphine dependence 9.6 OPRD1 OPRK1 OPRM1
15 opioid addiction 9.6 OPRD1 OPRK1 OPRM1
16 specific developmental disorder 9.6 OPRL1 OPRM1 PDYN
17 substance dependence 9.5 OPRD1 OPRK1 OPRM1
18 constipation 9.5 OPRM1 TACR1
19 opiate dependence 9.4 OPRD1 OPRK1 OPRM1 PDYN
20 cocaine dependence 9.4 OPRD1 OPRK1 OPRM1 PDYN
21 pain agnosia 9.3 OPRK1 OPRL1 OPRM1 PDYN
22 agnosia 9.3 OPRK1 OPRL1 OPRM1 PDYN
23 drug dependence 9.1 OPRD1 OPRK1 OPRL1 OPRM1 PDYN
24 alcohol dependence 9.0 OPRD1 OPRK1 OPRL1 OPRM1 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

Human phenotypes related to Spinocerebellar Ataxia 23:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
2 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
3 limb ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002070
4 progressive cerebellar ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002073
5 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
6 babinski sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487
7 impaired proprioception 60 33 frequent (33%) Frequent (79-30%) HP:0010831
8 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
9 slow saccadic eye movements 60 33 frequent (33%) Frequent (79-30%) HP:0000514
10 impaired distal vibration sensation 60 33 frequent (33%) Frequent (79-30%) HP:0006886
11 agenesis of corpus callosum 33 occasional (7.5%) HP:0001274
12 tremor 33 occasional (7.5%) HP:0001337
13 cerebellar atrophy 33 HP:0001272
14 impaired vibration sensation in the lower limbs 33 HP:0002166
15 polyneuropathy 33 HP:0001271
16 sensorimotor neuropathy 33 HP:0007141
17 neuronal loss in central nervous system 33 HP:0002529
18 cns demyelination 33 HP:0007305

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Spinocerebellar Ataxia 23:


gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 23:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 OPRD1 OPRK1 OPRL1 OPRM1 PDYN TACR1
2 integument MP:0010771 9.43 OPRD1 OPRK1 OPRL1 OPRM1 PDYN TACR1
3 nervous system MP:0003631 9.1 OPRD1 OPRK1 OPRL1 OPRM1 PDYN TACR1

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 30 PDYN

Anatomical Context for Spinocerebellar Ataxia 23

MalaCards organs/tissues related to Spinocerebellar Ataxia 23:

42
Eye, Spinal Cord, Cerebellum, Skin, Liver, Colon

Publications for Spinocerebellar Ataxia 23

Articles related to Spinocerebellar Ataxia 23:

# Title Authors Year
1
Reply: SCA23 and prodynorphin: is it time for gene retraction? ( 27190014 )
2016
2
SCA23 and prodynorphin: is it time for gene retraction? ( 27190015 )
2016
3
Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23. ( 27260403 )
2016
4
The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene. ( 25595316 )
2015
5
Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe. ( 22243190 )
2011
6
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. ( 21035104 )
2010
7
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
8
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. ( 15306549 )
2004

Variations for Spinocerebellar Ataxia 23

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

76
# 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 rs100488105
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 integral component of plasma membrane GO:0005887 9.65 OPRD1 OPRK1 OPRL1 OPRM1 TACR1
2 dendrite GO:0030425 9.61 OPRK1 OPRM1 PDYN
3 integral component of postsynaptic membrane GO:0099055 9.4 OPRK1 OPRM1
4 integral component of synaptic vesicle membrane GO:0030285 9.37 OPRD1 OPRK1
5 integral component of presynaptic membrane GO:0099056 9.33 OPRD1 OPRK1 OPRM1
6 dendrite membrane GO:0032590 9.32 OPRD1 OPRM1
7 axon terminus GO:0043679 9.13 OPRD1 OPRK1 PDYN
8 spine apparatus GO:0097444 8.62 OPRD1 OPRM1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 OPRD1 OPRK1 OPRL1 OPRM1 TACR1
2 G protein-coupled receptor signaling pathway GO:0007186 9.95 NPS OPRD1 OPRK1 OPRL1 OPRM1 PDYN
3 sensory perception of pain GO:0019233 9.67 OPRK1 OPRL1 OPRM1
4 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 9.67 OPRD1 OPRK1 OPRL1 OPRM1
5 estrous cycle GO:0044849 9.63 OPRK1 OPRL1 OPRM1
6 phospholipase C-activating G protein-coupled receptor signaling pathway GO:0007200 9.62 OPRD1 OPRK1 OPRM1 TACR1
7 sensory perception GO:0007600 9.61 OPRK1 OPRL1 OPRM1
8 locomotory behavior GO:0007626 9.58 OPRK1 OPRM1
9 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.58 OPRD1 OPRM1
10 response to cocaine GO:0042220 9.56 OPRK1 OPRM1
11 regulation of sensory perception of pain GO:0051930 9.56 OPRD1 OPRK1 OPRL1 OPRM1
12 response to radiation GO:0009314 9.55 OPRK1 OPRM1
13 response to morphine GO:0043278 9.54 OPRK1 OPRM1
14 behavior GO:0007610 9.52 OPRK1 OPRL1
15 negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0106072 9.51 OPRL1 OPRM1
16 adenylate cyclase-inhibiting opioid receptor signaling pathway GO:0031635 9.48 OPRK1 OPRM1
17 eating behavior GO:0042755 9.46 OPRD1 OPRK1 OPRL1 OPRM1
18 opioid receptor signaling pathway GO:0038003 9.26 OPRD1 OPRK1 OPRL1 OPRM1
19 neuropeptide signaling pathway GO:0007218 9.1 NPS OPRD1 OPRK1 OPRL1 OPRM1 PDYN

Molecular functions related to Spinocerebellar Ataxia 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.56 OPRD1 OPRK1 OPRL1 OPRM1
2 neuropeptide binding GO:0042923 9.26 OPRD1 OPRK1 OPRL1 OPRM1
3 receptor serine/threonine kinase binding GO:0033612 9.16 OPRD1 OPRK1
4 opioid receptor activity GO:0004985 8.92 OPRD1 OPRK1 OPRL1 OPRM1

Sources for Spinocerebellar Ataxia 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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