Autosomal Dominant Cerebellar Ataxia Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia Type Iii

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia Type Iii:

Name: Autosomal Dominant Cerebellar Ataxia Type Iii ⁵⁸

Pure Cerebellar Syndrome-Mild Pyramidal Signs Syndrome ⁵⁸

Autosomal Dominant Cerebellar Ataxia Type 3 ⁵⁸

Adca Iii ⁵⁴

Adcaiii ⁵⁸

Adca3 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

autosomal dominant cerebellar ataxia type iii
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: adult,elderly,normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Other hereditary ataxias

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G11.8

Orphanet ⁵⁸ ORPHA94148

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Summaries for Autosomal Dominant Cerebellar Ataxia Type Iii

MalaCards based summary : Autosomal Dominant Cerebellar Ataxia Type Iii, also known as pure cerebellar syndrome-mild pyramidal signs syndrome, is related to spinocerebellar ataxia 31 and spinocerebellar ataxia 1. An important gene associated with Autosomal Dominant Cerebellar Ataxia Type Iii is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A).

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Related Diseases for Autosomal Dominant Cerebellar Ataxia Type Iii

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia	Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47	Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43	Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9	Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect	Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I	Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

Diseases related to Autosomal Dominant Cerebellar Ataxia Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia 31	31.7	PLEKHG4 CACNA1A
2	spinocerebellar ataxia 1	31.5	PLEKHG4 CACNA1A
3	spinocerebellar ataxia 4	30.0	TTBK2 PLEKHG4
4	autosomal dominant cerebellar ataxia	29.9	TTBK2 PLEKHG4 CACNA1A
5	spinocerebellar ataxia 30	29.4	TTBK2 PLEKHG4 CACNA1A
6	spinocerebellar ataxia 26	11.3
7	spinocerebellar ataxia 2	11.1
8	spinocerebellar ataxia 10	11.1
9	ataxia and polyneuropathy, adult-onset	10.5
10	kearns-sayre syndrome	10.2
11	spinocerebellar ataxia 11	10.2
12	dysphagia	10.2
13	tremor	10.2
14	spinocerebellar ataxia 25	9.7	TTBK2 PLEKHG4
15	spastic paraplegia 25, autosomal recessive	9.7	TTBK2 PLEKHG4
16	spastic paraplegia 19, autosomal dominant	9.7	TTBK2 PLEKHG4
17	machado-joseph disease	9.7	PLEKHG4 CACNA1A
18	spastic paraplegia 34, x-linked	9.7	TTBK2 PLEKHG4
19	spinocerebellar ataxia 21	9.6	TTBK2 PLEKHG4
20	episodic ataxia	9.6	TTBK2 CACNA1A
21	hereditary ataxia	9.5	TTBK2 CACNA1A
22	cerebellar disease	9.4	TTBK2 PLEKHG4 CACNA1A
23	dentatorubral-pallidoluysian atrophy	9.4	TTBK2 PLEKHG4 CACNA1A

Graphical network of the top 20 diseases related to Autosomal Dominant Cerebellar Ataxia Type Iii:

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Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia Type Iii

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Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia Type Iii

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia Type Iii

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Genetic Tests for Autosomal Dominant Cerebellar Ataxia Type Iii

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Anatomical Context for Autosomal Dominant Cerebellar Ataxia Type Iii

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Publications for Autosomal Dominant Cerebellar Ataxia Type Iii

Articles related to Autosomal Dominant Cerebellar Ataxia Type Iii:

#	Title	Authors	PMID	Year
1	Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. ⁶¹	Fujioka S...Wszolek ZK	23331413	2013
2	Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals. ⁶¹	Gerwig M...Timmann D	18253726	2008
3	Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration. ⁶¹	Richter S...Timmann D	16088175	2005
4	Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. ⁶¹	Hirano R...Arimura K	15455264	2004
5	A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. ⁶¹	Takashima M...Mizusawa H	11322654	2001
6	Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. ⁶¹	Ikeda Y...Shoji M	10690991	2000
7	Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. ⁶¹	Worth PF...Wood NW	10417284	1999
8	Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. ⁵⁴	Garcia-Planells J...Palau F	10051016	1999
9	Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6. ⁶¹	Nagai Y...Ueno S	9600677	1998
10	SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. ⁵⁴	Yabe I...Tashiro K	9559993	1998

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Genes for Autosomal Dominant Cerebellar Ataxia Type Iii

Genes related to Autosomal Dominant Cerebellar Ataxia Type Iii (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	9.88	Novoseek inferred ⁵⁴	9559993 10051016
2	PLEKHG4	Pleckstrin Homology And RhoGEF Domain Containing G4	Protein Coding	7.32	GeneCards inferred via : Publications (show sections)
3	TTBK2	Tau Tubulin Kinase 2	Protein Coding	7.32	GeneCards inferred via : Publications (show sections)

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Variations for Autosomal Dominant Cerebellar Ataxia Type Iii

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Expression for Autosomal Dominant Cerebellar Ataxia Type Iii

Search GEO for disease gene expression data for Autosomal Dominant Cerebellar Ataxia Type Iii.

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Pathways for Autosomal Dominant Cerebellar Ataxia Type Iii

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GO Terms for Autosomal Dominant Cerebellar Ataxia Type Iii

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Sources for Autosomal Dominant Cerebellar Ataxia Type Iii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

⁹ Cosmic

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²⁴ GeneHancer via GeneCards

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²⁸ GO

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³¹ HPO

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³⁶ KEGG

³⁷ LifeMap

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⁴⁰ MalaCards

⁴¹ MedGen

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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

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⁶⁴ R&D Systems

⁶⁵ Reactome

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Autosomal Dominant Cerebellar Ataxia Type Iii (ADCA3)

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia Type Iii

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia Type Iii:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Autosomal Dominant Cerebellar Ataxia Type Iii

Related Diseases for Autosomal Dominant Cerebellar Ataxia Type Iii

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Diseases related to Autosomal Dominant Cerebellar Ataxia Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Autosomal Dominant Cerebellar Ataxia Type Iii:

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia Type Iii

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia Type Iii

Genetic Tests for Autosomal Dominant Cerebellar Ataxia Type Iii

Anatomical Context for Autosomal Dominant Cerebellar Ataxia Type Iii

Publications for Autosomal Dominant Cerebellar Ataxia Type Iii

Articles related to Autosomal Dominant Cerebellar Ataxia Type Iii:

Genes for Autosomal Dominant Cerebellar Ataxia Type Iii

Genes related to Autosomal Dominant Cerebellar Ataxia Type Iii (0 elite genes):

Variations for Autosomal Dominant Cerebellar Ataxia Type Iii

Expression for Autosomal Dominant Cerebellar Ataxia Type Iii

Pathways for Autosomal Dominant Cerebellar Ataxia Type Iii

GO Terms for Autosomal Dominant Cerebellar Ataxia Type Iii

Sources for Autosomal Dominant Cerebellar Ataxia Type Iii