ADCA1
MCID: ATS461
MIFTS: 18

Autosomal Dominant Cerebellar Ataxia Type I (ADCA1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.8
Orphanet 58 ORPHA94145

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.

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:



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

Search Clinical Trials , NIH Clinical Center 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:

40
Eye

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
27460185 2019
2
Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases. 61
24300164 2014
3
Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. 61
23931821 2013
4
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. 61
21619691 2011
5
Olivopontocerebellar atrophy: toward a better nosological definition. 61
16874757 2006
6
The Lewis family revisited: no evidence for autosomal dominant multiple system atrophy. 61
16103001 2005
7
Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. 61
10525976 1999
8
Identification of SCA2 mutation in cases of spinocerebellar ataxia with no family history in mid-eastern Sicily. 61
10551907 1999
9
Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families. 61
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
10399872 1999
11
Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction. 61
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
9762957 1998
13
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. 61
9506545 1998
14
Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. 61
9448569 1997
15
Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. 61
9158145 1997
16
Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus. 61
9112595 1997
17
Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients. 61
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
8902734 1996
19
Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3. 61
8931575 1996
20
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families. 61
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
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
8522329 1995
23
Multimodal evoked potentials in multiple system and late onset cerebellar atrophies. 61
7576727 1995
24
Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). 61
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
8279460 1994
26
Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. 61
8293283 1993
27
Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus. 61
8242077 1993
28
Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. 61
2043954 1991

Variations for Autosomal Dominant Cerebellar Ataxia Type I

Expression for Autosomal Dominant Cerebellar Ataxia Type I

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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