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 ⁵⁹

Pure Cerebellar Syndrome-Mild Pyramidal Signs Syndrome ⁵⁹

Autosomal Dominant Cerebellar Ataxia Type 3 ⁵⁹

Adca Iii ⁵⁵

Adcaiii ⁵⁹

Adca3 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Other hereditary ataxias

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁴ G11.8

Orphanet ⁵⁹ 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 aceruloplasminemia. 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	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 17)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia 31	32.3	PLEKHG4 CACNA1A
2	aceruloplasminemia	30.1	PLEKHG4 CACNA1A
3	autosomal dominant cerebellar ataxia	29.1	TTBK2 PLEKHG4 CACNA1A
4	spinocerebellar ataxia 26	11.7
5	spinocerebellar ataxia 1	11.4
6	spinocerebellar ataxia 2	11.3
7	spinocerebellar ataxia 10	11.3
8	ataxia and polyneuropathy, adult-onset	10.4
9	spinocerebellar ataxia 4	10.3
10	spinocerebellar ataxia 11	10.3
11	kearns-sayre syndrome	10.1
12	spinocerebellar ataxia 30	10.1
13	dysphagia	10.1
14	tremor	10.1
15	spinocerebellar ataxia 18	9.7	PLEKHG4 CACNA1A
16	cerebellar disease	9.6	PLEKHG4 CACNA1A
17	hereditary ataxia	9.4	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. ³⁸	Fujioka S...Wszolek ZK	23331413	2013
2	Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals. ³⁸	Gerwig M...Timmann D	18253726	2008
3	Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration. ³⁸	Richter S...Timmann D	16088175	2005
4	Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. ³⁸	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. ³⁸	Takashima M...Mizusawa H	11322654	2001
6	Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. ³⁸	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. ³⁸	Worth PF...Wood NW	10417284	1999
8	Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. ⁹	Garcia-Planells J...Palau F	10051016	1999
9	Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6. ³⁸	Nagai Y...Ueno S	9600677	1998
10	SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. ⁹	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	PubmedIds
1	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	19.88	Novoseek inferred ⁵⁵	9559993 10051016
2	PLEKHG4	Pleckstrin Homology And RhoGEF Domain Containing G4	Protein Coding	17.47	GeneCards inferred via : Publications (show sections)
3	TTBK2	Tau Tubulin Kinase 2	Protein Coding	17.47	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

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⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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