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

ADCA1 MCID: ATS461 MIFTS: 18	Autosomal Dominant Cerebellar Ataxia Type I (ADCA1) Categories: Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia Type I

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia Type I:

Name: Autosomal Dominant Cerebellar Ataxia Type I ⁵⁸

Autosomal Dominant Cerebellar Ataxia Type 1 ⁵⁸

Cerebellar Plus Syndrome ⁵⁸

Adca1 ⁵⁸

Adcai ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

autosomal dominant cerebellar ataxia type i
Inheritance: Autosomal dominant; Age of onset: All ages; 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 ORPHA94145

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Summaries for Autosomal Dominant Cerebellar Ataxia Type I

MalaCards based summary : Autosomal Dominant Cerebellar Ataxia Type I, also known as autosomal dominant cerebellar ataxia type 1, is related to spinocerebellar ataxia 1 and autosomal dominant cerebellar ataxia. An important gene associated with Autosomal Dominant Cerebellar Ataxia Type I is ATXN3 (Ataxin 3). Affiliated tissues include eye.

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Related Diseases for Autosomal Dominant Cerebellar Ataxia Type I

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)

#	Related Disease	Score	Top Affiliating Genes
1	spinocerebellar ataxia 1	31.7	LOC108663993 ATXN3
2	autosomal dominant cerebellar ataxia	30.3	LOC108663993 ATXN3
3	machado-joseph disease	11.8
4	spinocerebellar ataxia 2	11.7
5	spinocerebellar ataxia 29	11.4
6	spinocerebellar ataxia 34	11.4
7	cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	11.3
8	spinocerebellar ataxia 40	11.3
9	ataxia and polyneuropathy, adult-onset	10.7
10	aceruloplasminemia	10.7
11	pathologic nystagmus	10.4
12	kearns-sayre syndrome	10.3
13	dysphagia	10.3
14	olivopontocerebellar atrophy	10.2
15	posttransplant acute limbic encephalitis	10.2
16	dentatorubral-pallidoluysian atrophy	10.1
17	3-methylglutaconic aciduria, type iii	10.1
18	spinocerebellar ataxia 10	10.1
19	spinocerebellar ataxia 12	10.1
20	spinocerebellar ataxia 13	10.1
21	spinocerebellar ataxia 14	10.1
22	spinocerebellar ataxia 15	10.1
23	spinocerebellar ataxia 17	10.1
24	spinocerebellar ataxia 8	10.1
25	spinocerebellar ataxia 27	10.1
26	spinocerebellar ataxia 23	10.1
27	spinocerebellar ataxia 28	10.1
28	sensory peripheral neuropathy	10.1
29	movement disease	10.1
30	peripheral nervous system disease	10.1
31	axonal neuropathy	10.1
32	retinal degeneration	10.1
33	neuropathy	10.1
34	spasticity	10.1
35	tremor	10.1
36	restless legs syndrome	9.2	LOC108663993 ATXN3

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

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Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia Type I

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Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia Type I

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

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Genetic Tests for Autosomal Dominant Cerebellar Ataxia Type I

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Anatomical Context for Autosomal Dominant Cerebellar Ataxia Type I

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia Type I:

⁴⁰

Eye

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Publications for Autosomal Dominant Cerebellar Ataxia Type I

Articles related to Autosomal Dominant Cerebellar Ataxia Type I:

(show all 28)

#	Title	Authors	PMID	Year
1	Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia. ⁶¹	Arias M	27460185	2019
2	Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases. ⁶¹	Singh A...Kapoor S	24300164	2014
3	Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. ⁶¹	Berciano J...Infante J	23931821	2013
4	Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. ⁶¹	Whaley NR...Wszolek ZK	21619691	2011
5	Olivopontocerebellar atrophy: toward a better nosological definition. ⁶¹	Berciano J...Wenning GK	16874757	2006
6	The Lewis family revisited: no evidence for autosomal dominant multiple system atrophy. ⁶¹	Berciano J...Wenning GK	16103001	2005
7	Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. ⁶¹	Burk K...Klockgether T	10525976	1999
8	Identification of SCA2 mutation in cases of spinocerebellar ataxia with no family history in mid-eastern Sicily. ⁶¹	Giuffrida S...Condorelli DF	10551907	1999
9	Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families. ⁶¹	Filla A...Cocozza S	10431773	1999
10	Clinical and molecular studies of 73 Italian families with autosomal dominant cerebellar ataxia type I: SCA1 and SCA2 are the most common genotypes. ⁶¹	Pareyson D...Di Donato S	10399872	1999
11	Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction. ⁶¹	Storey E...Gardner RJ	9923760	1999
12	Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. ⁶¹	Klockgether T...Dichgans J	9762957	1998
13	Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. ⁶¹	Rivaud-Pechoux S...Pierrot-Deseilligny C	9506545	1998
14	Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. ⁶¹	Abele M...Klockgether T	9448569	1997
15	Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. ⁶¹	Cancel G...Brice A	9158145	1997
16	Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus. ⁶¹	Burk K...Klockgether T	9112595	1997
17	Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients. ⁶¹	Perretti A...Caruso G	8902719	1996
18	Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes. ⁶¹	Filla A...Cocozza S	8902734	1996
19	Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. ⁶¹	Burk K...Klockgether T	8931575	1996
20	Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families. ⁶¹	Lezin A...Brice A	8655151	1996
21	Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. ⁶¹	Durr A...Dellanave J	8595486	1995
22	Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I. ⁶¹	Verschuuren-Bemelmans CC...Scheffer H	8522329	1995
23	Multimodal evoked potentials in multiple system and late onset cerebellar atrophies. ⁶¹	Arpa J...Nos J	7576727	1995
24	Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). ⁶¹	Durr A...Agid Y	7614088	1995
25	A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. ⁶¹	Stevanin G...Penet C	8279460	1994
26	Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. ⁶¹	Durr A...Brice A	8293283	1993
27	Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus. ⁶¹	Stevanin G...Brice A	8242077	1993
28	Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. ⁶¹	Polo JM...Berciano J	2043954	1991

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Genes for Autosomal Dominant Cerebellar Ataxia Type I

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATXN3	Ataxin 3	Protein Coding	8.79	GeneCards inferred via : Publications (show sections)
2	LOC108663993	Ataxin 1 Repeat Instability Region	Biological Region	7.41	GeneCards inferred via : Publications (show sections)

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Variations for Autosomal Dominant Cerebellar Ataxia Type I

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Expression for Autosomal Dominant Cerebellar Ataxia Type I

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

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Pathways for Autosomal Dominant Cerebellar Ataxia Type I

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GO Terms for Autosomal Dominant Cerebellar Ataxia Type I

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Sources for Autosomal Dominant Cerebellar Ataxia Type I

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

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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 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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

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⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

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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 I (ADCA1)

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia Type I

MalaCards integrated aliases for Autosomal Dominant Cerebellar Ataxia Type I:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Autosomal Dominant Cerebellar Ataxia Type I

Related Diseases for Autosomal Dominant Cerebellar Ataxia Type I

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

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

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

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia Type I

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia Type I

Genetic Tests for Autosomal Dominant Cerebellar Ataxia Type I

Anatomical Context for Autosomal Dominant Cerebellar Ataxia Type I

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia Type I:

Publications for Autosomal Dominant Cerebellar Ataxia Type I

Articles related to Autosomal Dominant Cerebellar Ataxia Type I:

Genes for Autosomal Dominant Cerebellar Ataxia Type I

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

Variations for Autosomal Dominant Cerebellar Ataxia Type I

Expression for Autosomal Dominant Cerebellar Ataxia Type I

Pathways for Autosomal Dominant Cerebellar Ataxia Type I

GO Terms for Autosomal Dominant Cerebellar Ataxia Type I

Sources for Autosomal Dominant Cerebellar Ataxia Type I