SCA23
MCID: SPN097
MIFTS: 40

Spinocerebellar Ataxia 23 (SCA23)

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

Aliases & Classifications for Spinocerebellar Ataxia 23

MalaCards integrated aliases for Spinocerebellar Ataxia 23:

Name: Spinocerebellar Ataxia 23 57 20 72 13 70
Spinocerebellar Ataxia Type 23 12 20 58 29 6 15
Sca23 57 20 58 72
Ataxia, Spinocerebellar, Type 23 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 23
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset after age 40 years


HPO:

31
spinocerebellar ataxia 23:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050973
OMIM® 57 610245
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
MESH via Orphanet 45 C537201
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C1853250
Orphanet 58 ORPHA101108
MedGen 41 C1853250
UMLS 70 C1853250

Summaries for Spinocerebellar Ataxia 23

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101108 Definition Spinocerebellar 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. Epidemiology This subtype has only been described in 4 Dutch families. Age of onset is from 43 to 56 years. Clinical description The clinical features, head magnetic resonance imaging (MRI), and neuropathological findings are indistinguishable from other SCA subtypes. Etiology SCA23 maps to chromosome region 20p12.3-p13 and missense mutations in the prodynorphin PDYN gene appear to cause the disease. Prognosis Prognosis may be good in some cases. Disease progression can be slow. Wheelchair dependence can occur more than 20 years after symptomatic disease onset.

MalaCards based summary : Spinocerebellar Ataxia 23, also known as spinocerebellar ataxia type 23, is related to spinocerebellar ataxia 15 and hereditary ataxia, and has symptoms including gait ataxia An important gene associated with Spinocerebellar Ataxia 23 is PDYN (Prodynorphin), and among its related pathways/superpathways is Spinocerebellar ataxia. 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® : 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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, Autosomal Recessive 28 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 spinocerebellar ataxia 15 29.8 SPTBN2 KCNC3
2 hereditary ataxia 29.4 TMEM240 SPTBN2 PDYN KCNC3
3 autosomal dominant cerebellar ataxia 29.3 TMEM240 SPTBN2 PDYN-AS1 PDYN KCNC3
4 spinocerebellar ataxia, autosomal recessive 23 11.6
5 multiple system atrophy 1 10.2
6 parkinsonism 10.1
7 multiple system atrophy, parkinsonian type 10.1
8 cerebral palsy, ataxic, autosomal recessive 10.0 SPTBN2 KCNC3
9 spinocerebellar ataxia 18 10.0 TMEM240 SPTBN2
10 cerebellar ataxia type 9 10.0 SPTBN2 KCNC3
11 spinocerebellar ataxia 20 10.0 TMEM240 SPTBN2
12 episodic ataxia, type 6 10.0 SPTBN2 KCNC3
13 spinocerebellar ataxia 30 10.0 SPTBN2 PDYN
14 ataxia and polyneuropathy, adult-onset 10.0
15 far eastern spotted fever 10.0 SPTBN2 KCNC3
16 spinocerebellar ataxia 13 10.0 SPTBN2 KCNC3
17 marinesco-sjogren syndrome 10.0 SPTBN2 KCNC3
18 kearns-sayre syndrome 9.9
19 peripheral nervous system disease 9.9
20 neuropathy 9.9
21 episodic ataxia, type 2 9.9 SPTBN2 KCNC3
22 pain agnosia 9.9 TACR1 PDYN
23 dentatorubral-pallidoluysian atrophy 9.8 TMEM240 SPTBN2 KCNC3
24 agnosia 9.8 TACR1 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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
4 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
9 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
10 impaired distal vibration sensation 58 31 frequent (33%) Frequent (79-30%) HP:0006886
11 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
12 tremor 31 occasional (7.5%) HP:0001337
13 cerebellar atrophy 31 HP:0001272
14 polyneuropathy 31 HP:0001271
15 neuronal loss in central nervous system 31 HP:0002529
16 sensorimotor neuropathy 31 HP:0007141
17 cns demyelination 31 HP:0007305
18 impaired vibration sensation in the lower limbs 31 HP:0002166

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
gait ataxia
cerebellar atrophy
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 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 23:


gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 23:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 KCNC3 PDPR PDYN SLC17A7 SPTBN2 TACR1

Drugs & Therapeutics for Spinocerebellar Ataxia 23

Search Clinical Trials , 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 Type 23 29 PDYN

Anatomical Context for Spinocerebellar Ataxia 23

MalaCards organs/tissues related to Spinocerebellar Ataxia 23:

40
Eye, Spinal Cord, Cerebellum

Publications for Spinocerebellar Ataxia 23

Articles related to Spinocerebellar Ataxia 23:

(show all 16)
# Title Authors PMID Year
1
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. 57 6 61
21035104 2010
2
Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe. 57
22243190 2011
3
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. 57
15306549 2004
4
Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23. 61
33043513 2021
5
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23). 61
32651480 2020
6
Spinocerebellar ataxia type 23 (SCA23): a review. 61
33175256 2020
7
Intrafamilial phenotypic variation in spinocerebellar ataxia type 23. 61
32587707 2020
8
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23). 61
31410782 2019
9
Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23. 61
27260403 2016
10
Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23. 61
26169942 2015
11
The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene. 61
25595316 2015
12
The frequency of spinocerebellar ataxia type 23 in a UK population. 61
23108490 2013
13
Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population. 61
22985506 2012
14
Non-opioid nociceptive activity of human dynorphin mutants that cause neurodegenerative disorder spinocerebellar ataxia type 23. 61
22531488 2012
15
Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain. 61
21712028 2011
16
Spinocerebellar ataxia type 23: a genetic update. 61
19089525 2009

Variations for Spinocerebellar Ataxia 23

ClinVar genetic disease variations for Spinocerebellar Ataxia 23:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.643C>T (p.Arg215Cys) SNV Pathogenic 18459 rs267606939 GRCh37: 20:1961091-1961091
GRCh38: 20:1980445-1980445
2 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.632T>C (p.Leu211Ser) SNV Pathogenic 18460 rs267606940 GRCh37: 20:1961102-1961102
GRCh38: 20:1980456-1980456
3 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.634C>T (p.Arg212Trp) SNV Pathogenic 18461 rs201486601 GRCh37: 20:1961100-1961100
GRCh38: 20:1980454-1980454
4 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) SNV Likely pathogenic 18458 rs267606941 GRCh37: 20:1961320-1961320
GRCh38: 20:1980674-1980674
5 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.582C>T (p.Asp194=) SNV Uncertain significance 728105 rs769461186 GRCh37: 20:1961152-1961152
GRCh38: 20:1980506-1980506
6 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.616C>T (p.Arg206Cys) SNV Uncertain significance 871369 GRCh37: 20:1961118-1961118
GRCh38: 20:1980472-1980472
7 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.658_659del (p.Trp220fs) Deletion Uncertain significance 211896 rs748307861 GRCh37: 20:1961075-1961076
GRCh38: 20:1980429-1980430
8 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.257C>T (p.Ser86Leu) SNV Uncertain significance 899231 GRCh37: 20:1961477-1961477
GRCh38: 20:1980831-1980831
9 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.244T>C (p.Leu82=) SNV Uncertain significance 899232 GRCh37: 20:1961490-1961490
GRCh38: 20:1980844-1980844
10 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*231C>G SNV Uncertain significance 337831 rs565210312 GRCh37: 20:1960738-1960738
GRCh38: 20:1980092-1980092
11 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.501C>T (p.Asp167=) SNV Uncertain significance 337837 rs886056535 GRCh37: 20:1961233-1961233
GRCh38: 20:1980587-1980587
12 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.496del (p.Glu166fs) Deletion Uncertain significance 632370 rs768036104 GRCh37: 20:1961238-1961238
GRCh38: 20:1980592-1980592
13 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.-19-1G>C SNV Uncertain significance 632371 rs769835663 GRCh37: 20:1963750-1963750
GRCh38: 20:1983104-1983104
14 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*65C>G SNV Uncertain significance 896493 GRCh37: 20:1960904-1960904
GRCh38: 20:1980258-1980258
15 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.724G>A (p.Glu242Lys) SNV Uncertain significance 896495 GRCh37: 20:1961010-1961010
GRCh38: 20:1980364-1980364
16 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*872C>A SNV Uncertain significance 898047 GRCh37: 20:1960097-1960097
GRCh38: 20:1979451-1979451
17 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*760G>C SNV Uncertain significance 898048 GRCh37: 20:1960209-1960209
GRCh38: 20:1979563-1979563
18 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.691C>T (p.Arg231Trp) SNV Uncertain significance 898117 GRCh37: 20:1961043-1961043
GRCh38: 20:1980397-1980397
19 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.691C>A (p.Arg231=) SNV Uncertain significance 586213 rs201204862 GRCh37: 20:1961043-1961043
GRCh38: 20:1980397-1980397
20 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.571G>T (p.Gly191Trp) SNV Uncertain significance 898118 GRCh37: 20:1961163-1961163
GRCh38: 20:1980517-1980517
21 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.538C>T (p.Arg180Cys) SNV Uncertain significance 898119 GRCh37: 20:1961196-1961196
GRCh38: 20:1980550-1980550
22 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*671T>C SNV Uncertain significance 899170 GRCh37: 20:1960298-1960298
GRCh38: 20:1979652-1979652
23 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*670A>T SNV Uncertain significance 899171 GRCh37: 20:1960299-1960299
GRCh38: 20:1979653-1979653
24 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*636G>C SNV Uncertain significance 899172 GRCh37: 20:1960333-1960333
GRCh38: 20:1979687-1979687
25 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.217A>G (p.Thr73Ala) SNV Uncertain significance 190223 rs786205212 GRCh37: 20:1961517-1961517
GRCh38: 20:1980871-1980871
26 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*1532C>T SNV Uncertain significance 337806 rs886056528 GRCh37: 20:1959437-1959437
GRCh38: 20:1978791-1978791
27 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*561C>T SNV Uncertain significance 337823 rs886056531 GRCh37: 20:1960408-1960408
GRCh38: 20:1979762-1979762
28 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*1157T>G SNV Uncertain significance 337812 rs745852761 GRCh37: 20:1959812-1959812
GRCh38: 20:1979166-1979166
29 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*346G>A SNV Uncertain significance 337829 rs780894307 GRCh37: 20:1960623-1960623
GRCh38: 20:1979977-1979977
30 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.-42A>T SNV Uncertain significance 337841 rs886056536 GRCh37: 20:1973252-1973252
GRCh38: 20:1992606-1992606
31 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*827A>G SNV Uncertain significance 337818 rs886056530 GRCh37: 20:1960142-1960142
GRCh38: 20:1979496-1979496
32 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*261C>T SNV Uncertain significance 337830 rs886056534 GRCh37: 20:1960708-1960708
GRCh38: 20:1980062-1980062
33 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*1274T>G SNV Uncertain significance 337810 rs886056529 GRCh37: 20:1959695-1959695
GRCh38: 20:1979049-1979049
34 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*1071G>A SNV Uncertain significance 337813 rs752953257 GRCh37: 20:1959898-1959898
GRCh38: 20:1979252-1979252
35 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*103C>T SNV Uncertain significance 337833 rs555671052 GRCh37: 20:1960866-1960866
GRCh38: 20:1980220-1980220
36 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*847T>C SNV Uncertain significance 337816 rs371550256 GRCh37: 20:1960122-1960122
GRCh38: 20:1979476-1979476
37 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.-162A>G SNV Uncertain significance 337842 rs886056537 GRCh37: 20:1974639-1974639
GRCh38: 20:1993993-1993993
38 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*522C>T SNV Uncertain significance 337825 rs886056532 GRCh37: 20:1960447-1960447
GRCh38: 20:1979801-1979801
39 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*1394C>T SNV Uncertain significance 894979 GRCh37: 20:1959575-1959575
GRCh38: 20:1978929-1978929
40 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*556C>A SNV Uncertain significance 895049 GRCh37: 20:1960413-1960413
GRCh38: 20:1979767-1979767
41 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*389A>T SNV Uncertain significance 895050 GRCh37: 20:1960580-1960580
GRCh38: 20:1979934-1979934
42 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*320C>T SNV Uncertain significance 895051 GRCh37: 20:1960649-1960649
GRCh38: 20:1980003-1980003
43 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.86G>T (p.Cys29Phe) SNV Uncertain significance 895117 GRCh37: 20:1963645-1963645
GRCh38: 20:1982999-1982999
44 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.-43G>A SNV Uncertain significance 895118 GRCh37: 20:1973253-1973253
GRCh38: 20:1992607-1992607
45 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*1336G>C SNV Uncertain significance 896420 GRCh37: 20:1959633-1959633
GRCh38: 20:1978987-1978987
46 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*1065C>T SNV Uncertain significance 896421 GRCh37: 20:1959904-1959904
GRCh38: 20:1979258-1979258
47 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.520C>T (p.Arg174Cys) SNV Likely benign 337836 rs567558964 GRCh37: 20:1961214-1961214
GRCh38: 20:1980568-1980568
48 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.483C>G (p.Leu161=) SNV Likely benign 337838 rs773513924 GRCh37: 20:1961251-1961251
GRCh38: 20:1980605-1980605
49 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.456C>T (p.Asn152=) SNV Likely benign 899230 GRCh37: 20:1961278-1961278
GRCh38: 20:1980632-1980632
50 PDYN-AS1 , PDYN NM_024411.5(PDYN):c.*33A>C SNV Likely benign 896494 GRCh37: 20:1960936-1960936
GRCh38: 20:1980290-1980290

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

72
# 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

Expression for Spinocerebellar Ataxia 23

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

Pathways for Spinocerebellar Ataxia 23

Pathways related to Spinocerebellar Ataxia 23 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.95 SPTBN2 PDYN KCNC3

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 synapse GO:0045202 8.92 TMEM240 SLC17A7 PDYN KCNC3

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

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 8.8 SPTBN2 PSMF1 GFRA4

Sources for Spinocerebellar Ataxia 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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