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 ⁵³ ¹³ ⁷³

Spinocerebellar Ataxia Type 30 ¹² ⁵³ ⁵⁹

Sca30 ⁵⁷ ⁵³ ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

Inheritance:
autosomal dominant

Miscellaneous:
adult onset (45 to 76 years)
insidious onset
slow progression
one family has been reported (as of 4/2010)

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Late-onset cerebellar ataxia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 613371

Disease Ontology ¹² DOID:0050979

Orphanet ⁵⁹ ORPHA211017

MESH via Orphanet ⁴⁵ C537206

UMLS via Orphanet ⁷⁴ C2936793

ICD10 via Orphanet ³⁴ G11.2

MedGen ⁴² C2936793

SNOMED-CT via HPO ⁶⁹ 263681008 29356006 85102008 more

UMLS ⁷³ C2936793

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Summaries for Spinocerebellar Ataxia 30

MalaCards based summary : Spinocerebellar Ataxia 30, also known as spinocerebellar ataxia type 30, is related to autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 30 is SCA30 (Spinocerebellar Ataxia 30). Related phenotypes are gaze-evoked nystagmus and ataxia

Description from OMIM: 613371

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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, 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 47	Spinocerebellar Ataxia Type 16
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:

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant cerebellar ataxia	10.9

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Symptoms & Phenotypes for Spinocerebellar Ataxia 30

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Neurologic Central Nervous System:
ataxia, gait and appendicular
dysarthria
hyperreflexia, lower limbs, mild
cerebellar atrophy

Clinical features from OMIM:

613371

Human phenotypes related to Spinocerebellar Ataxia 30:

³²

#	Description	HPO Frequency	HPO Source Accession
1	gaze-evoked nystagmus ³²	occasional (7.5%)	HP:0000640
2	ataxia ³²		HP:0001251
3	dysarthria ³²		HP:0001260
4	cerebellar atrophy ³²		HP:0001272
5	hypermetric saccades ³²		HP:0007338

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Drugs & Therapeutics for Spinocerebellar Ataxia 30

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 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

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Genes for Spinocerebellar Ataxia 30

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCA30	Spinocerebellar Ataxia 30	Genetic Locus	408.4	Causative germline mutation ⁵⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Gene name (show sections)

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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

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GO Terms for Spinocerebellar Ataxia 30

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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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia