MCID: SPN097
MIFTS: 36

Spinocerebellar Ataxia 23

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

Aliases & Classifications for Spinocerebellar Ataxia 23

MalaCards integrated aliases for Spinocerebellar Ataxia 23:

Name: Spinocerebellar Ataxia 23 53 49 71 28 13 69
Spinocerebellar Ataxia Type 23 12 49 55 14
Sca23 53 49 55 71

Characteristics:

Orphanet epidemiological data:

55
spinocerebellar ataxia type 23
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
onset after age 40 years


HPO:

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


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 610245
Disease Ontology 12 DOID:0050973
Orphanet 55 ORPHA101108
MESH via Orphanet 42 C537201
UMLS via Orphanet 70 C1853250
ICD10 via Orphanet 33 G11.2
MedGen 39 C1853250
MeSH 41 D020754
UMLS 69 C1853250

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 ataxia and polyneuropathy, adult-onset and autosomal dominant cerebellar ataxia, and has symptoms including tremor, gait ataxia and agenesis of corpus callosum. 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.

OMIM : 53 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)

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Spinocerebellar ataxia.

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 Type 16 Spinocerebellar Ataxia Type 19/22
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 ataxia and polyneuropathy, adult-onset 9.9
2 autosomal dominant cerebellar ataxia 9.9
3 retinitis pigmentosa 68 9.7 NPS TACR1
4 diverticulitis of colon 9.7 NPS TACR1
5 perry syndrome 9.6 NPS TACR1
6 dissociative amnesia 9.6 NPS PDYN
7 disease of mental health 9.5 NPS PDYN
8 migraine with or without aura 1 9.5 NPS TACR1
9 narcolepsy 9.3 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:

53
Neurologic Central Nervous System:
gait ataxia
dysarthria
hyperreflexia
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:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 tremor 31 occasional (7.5%) HP:0001337
2 gait ataxia 31 HP:0002066
3 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
4 dysarthria 31 HP:0001260
5 hyperreflexia 31 HP:0001347
6 limb ataxia 31 HP:0002070
7 babinski sign 31 HP:0003487
8 dysmetria 31 HP:0001310
9 cerebellar atrophy 31 HP:0001272
10 sensorimotor neuropathy 31 HP:0007141
11 neuronal loss in central nervous system 31 HP:0002529
12 slow saccadic eye movements 31 HP:0000514
13 impaired vibration sensation in the lower limbs 31 HP:0002166
14 cns demyelination 31 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 28 PDYN

Anatomical Context for Spinocerebellar Ataxia 23

MalaCards organs/tissues related to Spinocerebellar Ataxia 23:

38
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:

71
# 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
# 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:

# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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