SCA30
MCID: SPN102
MIFTS: 34

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 56 52 13 71
Spinocerebellar Ataxia Type 30 12 52 58 15
Sca30 56 52 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:

56
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 56 613371
OMIM Phenotypic Series 56 PS164400
MESH via Orphanet 44 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 autosomal dominant cerebellar ataxia. 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 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
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 67)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 26 31.6 TK2 ITPR1 EEF2
2 autosomal dominant cerebellar ataxia 27.0 TTBK2 SPTBN2 SLC1A6 SCA30 PPP2R2B PLEKHG4
3 israeli tick typhus 10.4 SPTBN2 PLEKHG4
4 spastic paraplegia 19, autosomal dominant 10.4 TTBK2 PLEKHG4
5 brill-zinsser disease 10.4 SPTBN2 PLEKHG4
6 spinocerebellar ataxia 20 10.3 SPTBN2 PLEKHG4
7 spinocerebellar ataxia 25 10.3 TTBK2 PLEKHG4 FGF14
8 spastic paraplegia 25, autosomal recessive 10.3 TTBK2 PLEKHG4 FGF14
9 spastic paraplegia 34, x-linked 10.3 TTBK2 PLEKHG4 FGF14
10 spinocerebellar ataxia type 19/22 10.3 KCND3 FGF14
11 endemic typhus 10.3 SPTBN2 PLEKHG4
12 rocky mountain spotted fever 10.3 SPTBN2 PLEKHG4
13 spastic paraplegia 41, autosomal dominant 10.3 SPTBN2 KCND3
14 spinocerebellar ataxia 37 10.3 TK2 NOP56 ATXN10
15 spinocerebellar ataxia 36 10.2 TK2 NOP56 ATXN10
16 tactile agnosia 10.2 PPP2R2B ATXN7
17 spinocerebellar ataxia 11 10.2 TTBK2 ATXN10
18 boutonneuse fever 10.2 SPTBN2 PLEKHG4
19 fragile x-associated tremor/ataxia syndrome 10.2 PPP2R2B NOP56 ATXN10
20 autosomal dominant cerebellar ataxia type iii 10.1 TTBK2 PLEKHG4 CACNA1A
21 spinocerebellar ataxia, autosomal recessive 8 10.1 SPTBN2 SLC1A6 ATXN7
22 spinocerebellar ataxia, autosomal recessive 4 10.1 PLEKHG4 CACNA1A
23 cerebellar ataxia type 41 10.1 KCND3 ATXN1 AFG3L2
24 vestibular nystagmus 10.1 JRK CACNA1A
25 spinocerebellar ataxia 13 10.0 TTBK2 SPTBN2 KCND3 FGF14
26 primary cerebellar degeneration 10.0 CACNA1A ATXN1
27 hemidystonia 10.0 JRK CACNA1A
28 multifocal dystonia 10.0 JRK CACNA1A
29 spinocerebellar ataxia, autosomal recessive 14 10.0 SPTBN2 CACNA1A AFG3L2
30 familial adult myoclonic epilepsy 10.0 TK2 CACNA1A ATXN10
31 myotonic dystrophy 2 10.0 NOP56 EEF2 ATXN10
32 spinocerebellar ataxia 21 10.0 TTBK2 SPTBN2 PLEKHG4 FGF14 AFG3L2
33 spinocerebellar ataxia 29 10.0 NOP56 ITPR1 AFG3L2
34 spinocerebellar ataxia 5 9.9 SPTBN2 SLC1A6 ITPR1
35 x-linked hereditary ataxia 9.9 PPP2R2B NOP56 ATXN7 ATXN10
36 spinocerebellar ataxia 10 9.9 PPP2R2B NOP56 ATXN7 ATXN10
37 huntington disease-like 2 9.9 PPP2R2B NOP56 ATXN7 ATXN10
38 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.9 SPTBN2 CACNA1A ATXN7
39 cerebellar ataxia type 42 9.9 KCND3 CACNA1A ATXN7
40 cerebral palsy, ataxic, autosomal recessive 9.9 SPTBN2 JRK ITPR1
41 spinocerebellar ataxia 18 9.8 TTBK2 SPTBN2 PLEKHG4 ATXN7 AFG3L2
42 ocular motility disease 9.8 JRK CACNA1A ATXN7
43 spinocerebellar ataxia 15 9.8 TTBK2 SPTBN2 ITPR1 AFG3L2
44 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.8 CACNA1A ATXN1
45 spinal and bulbar muscular atrophy, x-linked 1 9.8 CACNA1A ATXN7 ATXN1
46 episodic ataxia, type 6 9.8 SPTBN2 SLC1A6 CACNA1A ATXN7
47 kearns-sayre syndrome 9.7 TK2 CACNA1A ATXN7 AFG3L2
48 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.7 CACNA1A ATXN7
49 machado-joseph disease 9.7 CACNA1A ATXN7 ATXN1
50 autosomal recessive cerebellar ataxia 9.7 SPTBN2 CACNA1A ATXN7 ATXN10

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:

56
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

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 30:

45
# 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. 56
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 11.49 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 glutamatergic synapse GO:0098978 9.26 SPTBN2 SLC1A6 NEDD4 CACNA1A
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 regulation of membrane potential GO:0042391 8.8 SLC1A6 NEDD4 CACNA1A

Sources for Spinocerebellar Ataxia 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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