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 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:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.8
Orphanet 58 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 spinocerebellar ataxia 1. 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

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:



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. 61
23331413 2013
2
Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals. 61
18253726 2008
3
Degree of cerebellar ataxia correlates with three-dimensional mri-based cerebellar volume in pure cerebellar degeneration. 61
16088175 2005
4
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. 61
15455264 2004
5
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. 61
11322654 2001
6
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. 61
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
10417284 1999
8
Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. 54
10051016 1999
9
Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6. 61
9600677 1998
10
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia. 54
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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