Spinocerebellar Ataxia 30 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Late-onset cerebellar ataxia

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

SNOMED-CT via HPO ⁶⁸ 246769000 25136009 263681008 more

UMLS ⁷¹ C2936793

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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

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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:

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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

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Drugs & Therapeutics for Spinocerebellar Ataxia 30

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 30

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Genetic Tests for Spinocerebellar Ataxia 30

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Anatomical Context for Spinocerebellar Ataxia 30

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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	Storey E...Gardner RJ	18996908	2009
2	Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. ⁶¹	Fujioka S...Wszolek ZK	23331413	2013
3	Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family. ⁶¹	Yuan Y...Tu J	20641168	2010

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Genes for Spinocerebellar Ataxia 30

Genes related to Spinocerebellar Ataxia 30 (1 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCA30	Spinocerebellar Ataxia 30	Genetic Locus	408.4	Causative germline mutation ⁵⁸ Unconfirmed association ⁵⁷ GeneCards inferred via : Gene name (show sections)
2	TK2	Thymidine Kinase 2	Protein Coding	6.22	DISEASES inferred ¹⁵
3	PLEKHG4	Pleckstrin Homology And RhoGEF Domain Containing G4	Protein Coding	5.72	DISEASES inferred ¹⁵
4	TTBK2	Tau Tubulin Kinase 2	Protein Coding	5.47	DISEASES inferred ¹⁵
5	FGF14	Fibroblast Growth Factor 14	Protein Coding	5.39	DISEASES inferred ¹⁵
6	SLC1A6	Solute Carrier Family 1 Member 6	Protein Coding	5.39	DISEASES inferred ¹⁵
7	NOP56	NOP56 Ribonucleoprotein	Protein Coding	5.36	DISEASES inferred ¹⁵
8	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	5.28	DISEASES inferred ¹⁵
9	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	5.25	DISEASES inferred ¹⁵
10	ATXN10	Ataxin 10	Protein Coding	5.1	DISEASES inferred ¹⁵
11	PPP2R2B	Protein Phosphatase 2 Regulatory Subunit Bbeta	Protein Coding	5.09	DISEASES inferred ¹⁵
12	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	4.91	DISEASES inferred ¹⁵
13	ATXN7	Ataxin 7	Protein Coding	4.64	DISEASES inferred ¹⁵
14	ATXN1	Ataxin 1	Protein Coding	4.64	DISEASES inferred ¹⁵
15	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	4.59	DISEASES inferred ¹⁵
16	PDYN	Prodynorphin	Protein Coding	4.46	DISEASES inferred ¹⁵
17	EEF2	Eukaryotic Translation Elongation Factor 2	Protein Coding	4.46	DISEASES inferred ¹⁵
18	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	4.33	DISEASES inferred ¹⁵
19	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	4.26	DISEASES inferred ¹⁵

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Variations for Spinocerebellar Ataxia 30

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Expression for Spinocerebellar Ataxia 30

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

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Pathways for Spinocerebellar Ataxia 30

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

#	Super pathways	Score	Top Affiliating Genes
1	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶³	11.61	PPP2R2B KCND3 ITPR1 CACNA1A
2	Spinocerebellar ataxia ³⁶	11.52	SPTBN2 SLC1A6 PDYN NOP56 KCND3 ITPR1
3	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²³ Show member pathways DARPP-32 events ⁶⁵	11.29	PPP2R2B PDYN ITPR1

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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

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Sources for Spinocerebellar Ataxia 30

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spinocerebellar Ataxia 30 (SCA30)

Aliases & Classifications for Spinocerebellar Ataxia 30

MalaCards integrated aliases for Spinocerebellar Ataxia 30:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spinocerebellar Ataxia 30

Related Diseases for Spinocerebellar Ataxia 30

Diseases in the Spinocerebellar Ataxia 2 family:

Diseases related to Spinocerebellar Ataxia 30 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Spinocerebellar Ataxia 30

Human phenotypes related to Spinocerebellar Ataxia 30:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 30:

Drugs & Therapeutics 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:

Genes for Spinocerebellar Ataxia 30

Genes related to Spinocerebellar Ataxia 30 (1 elite genes):

Variations for Spinocerebellar Ataxia 30

Expression for Spinocerebellar Ataxia 30

Pathways for Spinocerebellar Ataxia 30

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

GO Terms for Spinocerebellar Ataxia 30

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

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

Sources for Spinocerebellar Ataxia 30