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 ⁵⁸ ⁵⁴ ¹³ ⁷⁴

Spinocerebellar Ataxia Type 30 ¹² ⁵⁴ ⁶⁰

Sca30 ⁵⁸ ⁵⁴ ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Late-onset cerebellar ataxia

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0050979

OMIM ⁵⁸ 613371

MESH via Orphanet ⁴⁶ C537206

ICD10 via Orphanet ³⁵ G11.2

UMLS via Orphanet ⁷⁵ C2936793

Orphanet ⁶⁰ ORPHA211017

MedGen ⁴³ C2936793

SNOMED-CT via HPO ⁷⁰ 246769000 25136009 263681008 more

UMLS ⁷⁴ 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 cone-rod dystrophy and hearing loss 2 and autosomal dominant cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia 30 is SCA30 (Spinocerebellar Ataxia 30). Affiliated tissues include skin, liver and eye, and related phenotypes are dysarthria and gait 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 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 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	cone-rod dystrophy and hearing loss 2	11.1
2	autosomal dominant cerebellar ataxia	11.1

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Symptoms & Phenotypes for Spinocerebellar Ataxia 30

Human phenotypes related to Spinocerebellar Ataxia 30:

⁶⁰ ³³ (show all 9)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	dysarthria ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001260
2	gait ataxia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002066
3	limb ataxia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002070
4	cerebellar vermis atrophy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0006855
5	lower limb hyperreflexia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002395
6	gaze-evoked nystagmus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000640
7	ataxia ³³			HP:0001251
8	cerebellar atrophy ³³			HP:0001272
9	hypermetric saccades ³³			HP:0007338

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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

MalaCards organs/tissues related to Spinocerebellar Ataxia 30:

⁴²

Skin, Liver, Eye

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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	408.33	Causative germline mutation ⁶⁰ Unconfirmed association ⁵⁸ 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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

Symptoms & Phenotypes for Spinocerebellar Ataxia 30

Human phenotypes related to Spinocerebellar Ataxia 30:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spinocerebellar Ataxia 30

Interventional clinical trials:

Genetic Tests for Spinocerebellar Ataxia 30

Anatomical Context for Spinocerebellar Ataxia 30

MalaCards organs/tissues related to Spinocerebellar Ataxia 30:

Publications for 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

GO Terms for Spinocerebellar Ataxia 30

Sources for Spinocerebellar Ataxia 30