ADCA3
MCID: ATS462
MIFTS: 16

Autosomal Dominant Cerebellar Ataxia Type Iii (ADCA3)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.8
Orphanet 59 ORPHA94148

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).

Related Diseases for Autosomal Dominant Cerebellar Ataxia Type Iii

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



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

Search Clinical Trials , NIH Clinical Center 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:

# Title Authors PMID Year
1
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. 38
23331413 2013
2
Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals. 38
18253726 2008
3
Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration. 38
16088175 2005
4
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. 38
15455264 2004
5
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. 38
11322654 2001
6
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. 38
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
10417284 1999
8
Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. 9
10051016 1999
9
Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6. 38
9600677 1998
10
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. 9
9559993 1998

Variations for Autosomal Dominant Cerebellar Ataxia Type Iii

Expression for Autosomal Dominant Cerebellar Ataxia Type Iii

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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