SCA30
MCID: SPN102
MIFTS: 33

Spinocerebellar Ataxia 30 (SCA30)

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 30

MalaCards integrated aliases for Spinocerebellar Ataxia 30:

Name: Spinocerebellar Ataxia 30 57 20 13 71
Spinocerebellar Ataxia Type 30 12 20 58 15
Sca30 57 20 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 30
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: elderly,normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
slow progression
insidious onset
adult onset (45 to 76 years)
one family has been reported (as of 4/2010)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 30:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression insidious onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050979
OMIM® 57 613371
OMIM Phenotypic Series 57 PS164400
MESH via Orphanet 45 C537206
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 72 C2936793
Orphanet 58 ORPHA211017
MedGen 41 C2936793
UMLS 71 C2936793

Summaries for Spinocerebellar Ataxia 30

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has material basis in mutation in the ODZ3 gene.

MalaCards based summary : Spinocerebellar Ataxia 30, also known as spinocerebellar ataxia type 30, is related to spinocerebellar ataxia 26 and spinocerebellar ataxia 25. An important gene associated with Spinocerebellar Ataxia 30 is SCA30 (Spinocerebellar Ataxia 30), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Spinocerebellar ataxia. Related phenotypes are dysarthria and gait ataxia

More information from OMIM: 613371 PS164400

Related Diseases for Spinocerebellar Ataxia 30

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 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 26 31.0 TK2 ITPR1 EEF2
2 spinocerebellar ataxia 25 10.3 TTBK2 PLEKHG4
3 spinocerebellar ataxia 4 10.3 TTBK2 PLEKHG4
4 israeli tick typhus 10.3 SPTBN2 PLEKHG4
5 spastic paraplegia 19, autosomal dominant 10.3 TTBK2 PLEKHG4
6 brill-zinsser disease 10.3 SPTBN2 PLEKHG4
7 spinocerebellar ataxia, x-linked 5 10.2 TK2 PLEKHG4 FGF14
8 endemic typhus 10.2 SPTBN2 PLEKHG4
9 spastic paraplegia 25, autosomal recessive 10.2 TTBK2 PLEKHG4 FGF14
10 spastic paraplegia 34, x-linked 10.2 TTBK2 PLEKHG4 FGF14
11 spinocerebellar ataxia type 19/22 10.2 KCND3 FGF14
12 rocky mountain spotted fever 10.2 SPTBN2 PLEKHG4
13 spastic paraplegia 41, autosomal dominant 10.2 SPTBN2 KCND3
14 spinocerebellar ataxia 37 10.2 NOP56 ATXN10
15 cerebellar ataxia type 48 10.2 ATXN1 AFG3L2
16 tactile agnosia 10.2 PPP2R2B ATXN7
17 spinocerebellar ataxia 18 10.2 SPTBN2 PLEKHG4 AFG3L2
18 spinocerebellar ataxia 36 10.2 TK2 NOP56 ATXN10
19 spinocerebellar ataxia 11 10.2 TTBK2 ATXN10
20 far eastern spotted fever 10.2 SPTBN2 ATXN10
21 spinocerebellar ataxia 21 10.1 TTBK2 PLEKHG4 FGF14 AFG3L2
22 fragile x-associated tremor/ataxia syndrome 10.1 PPP2R2B NOP56 ATXN10
23 autosomal dominant cerebellar ataxia type iii 10.1 TTBK2 PLEKHG4 CACNA1A
24 developmental and epileptic encephalopathy 5 10.1 SPTBN2 SLC1A6
25 cerebellar ataxia type 42 10.0 KCND3 CACNA1A
26 boutonneuse fever 10.0 SPTBN2 PLEKHG4
27 spinocerebellar ataxia 23 10.0 SPTBN2 PDYN
28 spinocerebellar ataxia 13 10.0 TTBK2 SPTBN2 KCND3 FGF14
29 familial adult myoclonic epilepsy 10.0 TK2 CACNA1A ATXN10
30 spinocerebellar ataxia, autosomal recessive 14 10.0 SPTBN2 CACNA1A AFG3L2
31 spastic ataxia 9.9 SPTBN2 CACNA1A AFG3L2
32 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.9 CACNA1A ATXN7
33 cerebral palsy, ataxic, autosomal recessive 9.9 SPTBN2 ITPR1
34 myotonic dystrophy 2 9.9 NOP56 EEF2 ATXN10
35 x-linked hereditary ataxia 9.9 PPP2R2B NOP56 ATXN7 ATXN10
36 spinocerebellar ataxia 10 9.9 PPP2R2B NOP56 ATXN7 ATXN10
37 spinocerebellar ataxia, x-linked 4 9.9 TK2 PLEKHG4 ITPR1
38 spinocerebellar ataxia, x-linked 3 9.9 TK2 PLEKHG4 ITPR1
39 aceruloplasminemia 9.9 SPTBN2 CACNA1A AFG3L2
40 autosomal recessive cerebellar ataxia 9.9 SPTBN2 CACNA1A ATXN7
41 spinocerebellar ataxia 5 9.8 SPTBN2 SLC1A6 ITPR1
42 episodic ataxia, type 6 9.8 SPTBN2 SLC1A6 CACNA1A ATXN7
43 dravet syndrome 9.8 KCND3 FGF14 CACNA1A
44 choreatic disease 9.7 CACNA1A ATXN7 ATXN1 AFG3L2
45 friedreich ataxia 9.7 PPP2R2B CACNA1A ATXN10 ATXN1
46 spinocerebellar ataxia 12 9.7 PPP2R2B CACNA1A ATXN7 ATXN1
47 spinocerebellar ataxia 8 9.7 PPP2R2B NOP56 ATXN7 ATXN10 ATXN1
48 spinocerebellar ataxia, autosomal recessive 8 9.7 SPTBN2 SLC1A6 CACNA1A ATXN7 AFG3L2
49 spinocerebellar ataxia 2 9.7 ITPR1 CACNA1A ATXN7
50 cerebellar ataxia type 41 9.6 KCND3 ITPR1 ATXN1 AFG3L2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 30:



Diseases related to Spinocerebellar Ataxia 30

Symptoms & Phenotypes for Spinocerebellar Ataxia 30

Human phenotypes related to Spinocerebellar Ataxia 30:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
4 cerebellar vermis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006855
5 lower limb hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002395
6 gaze-evoked nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000640
7 ataxia 31 HP:0001251
8 cerebellar atrophy 31 HP:0001272
9 hypermetric saccades 31 HP:0007338

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
dysarthria
cerebellar atrophy
ataxia, gait and appendicular
hyperreflexia, lower limbs, mild

Head And Neck Eyes:
hypermetric saccades
gaze-evoked nystagmus (1 patient)

Clinical features from OMIM®:

613371 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 30:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 AFG3L2 ATXN1 ATXN7 CACNA1A FGF14 ITPR1
2 growth/size/body region MP:0005378 9.93 AFG3L2 ATXN1 ATXN7 CACNA1A EEF2 FGF14
3 muscle MP:0005369 9.5 AFG3L2 ATXN1 ATXN7 CACNA1A FGF14 ITPR1
4 nervous system MP:0003631 9.36 AFG3L2 ATXN1 ATXN7 CACNA1A FGF14 ITPR1

Drugs & Therapeutics for Spinocerebellar Ataxia 30

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 30

Genetic Tests for Spinocerebellar Ataxia 30

Anatomical Context for Spinocerebellar Ataxia 30

Publications for Spinocerebellar Ataxia 30

Articles related to Spinocerebellar Ataxia 30:

# Title Authors PMID Year
1
A new dominantly inherited pure cerebellar ataxia, SCA 30. 57
18996908 2009
2
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. 61
23331413 2013
3
Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family. 61
20641168 2010

Variations for Spinocerebellar Ataxia 30

Expression for Spinocerebellar Ataxia 30

Search GEO for disease gene expression data for Spinocerebellar Ataxia 30.

Pathways for Spinocerebellar Ataxia 30

Pathways related to Spinocerebellar Ataxia 30 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.61 PPP2R2B KCND3 ITPR1 CACNA1A
2 11.52 SPTBN2 SLC1A6 PDYN NOP56 KCND3 ITPR1
3
Show member pathways
11.29 PPP2R2B PDYN ITPR1

GO Terms for Spinocerebellar Ataxia 30

Cellular components related to Spinocerebellar Ataxia 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.77 TTBK2 TK2 SPTBN2 PPP2R2B NOP56 NEDD4
2 neuronal cell body GO:0043025 9.02 SPTBN2 PDYN KCND3 CACNA1A ATXN10

Biological processes related to Spinocerebellar Ataxia 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of microtubule depolymerization GO:0007026 8.62 TTBK2 ATXN7

Sources for Spinocerebellar Ataxia 30

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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