SCA42
MCID: CRB217
MIFTS: 23

Cerebellar Ataxia Type 42 (SCA42)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia Type 42

MalaCards integrated aliases for Cerebellar Ataxia Type 42:

Name: Cerebellar Ataxia Type 42 12 15
Sca42 12

Classifications:



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Disease Ontology 12 DOID:0111742

Summaries for Cerebellar Ataxia Type 42

Disease Ontology : 12 An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has material basis in heterozygous mutation of the CACNA1G gene on chromosome 17q21.

MalaCards based summary : Cerebellar Ataxia Type 42, also known as sca42, is related to autosomal dominant cerebellar ataxia and dystonia. An important gene associated with Cerebellar Ataxia Type 42 is CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G), and among its related pathways/superpathways are Development Ligand-independent activation of ESR1 and ESR2 and Calcium signaling pathway. Related phenotype is behavior/neurological.

Related Diseases for Cerebellar Ataxia Type 42

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 Cerebellar Ataxia Type 42 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant cerebellar ataxia 29.5 KCND3 KCNC3 CACNA1G CACNA1A ATXN7
2 dystonia 28.7 KCND3 CACNA1B CACNA1A ATXN7
3 spinocerebellar ataxia 42 12.3
4 ataxia and polyneuropathy, adult-onset 10.4
5 spinocerebellar ataxia 13 10.3 KCND3 KCNC3
6 adolescence-adult electroclinical syndrome 10.3 CACNA1G CACNA1A
7 charcot-marie-tooth disease, recessive intermediate b 10.2 C1orf185 ASB16
8 childhood electroclinical syndrome 10.2 CACNA1G CACNA1A
9 episodic ataxia, type 1 10.1 KCND3 KCNC3 CACNA1A
10 spinocerebellar ataxia 14 10.1 TRPC3 CACNA1A
11 migraine, familial hemiplegic, 1 10.0 CACNA1B CACNA1A
12 cerebellar ataxia type 48 10.0 UBR4 FRMD7 CACNA1G
13 paroxysmal extreme pain disorder 10.0 CACNA1B CACNA1A
14 undetermined early-onset epileptic encephalopathy 9.9 CACNA1B CACNA1A
15 vertebral artery occlusion 9.9 HPCAL4 CPNE9
16 childhood absence epilepsy 9.9 CACNA1G CACNA1B CACNA1A
17 lambert-eaton myasthenic syndrome 9.9 CACNA1B CACNA1A
18 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.8 CACNA1A ATXN7
19 spinocerebellar ataxia 12 9.8 CACNA1A ATXN7
20 olivopontocerebellar atrophy 9.8 CACNA1A ATXN7
21 spinocerebellar ataxia 17 9.8 CACNA1A ATXN7
22 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.7 CACNA1A ATXN7
23 episodic ataxia, type 6 9.7 KCNC3 CACNA1A ATXN7
24 cerebellar disease 9.7 KCNC3 CACNA1A ATXN7
25 dentatorubral-pallidoluysian atrophy 9.7 KCNC3 CACNA1A ATXN7
26 spinocerebellar ataxia 30 9.7 KCND3 CACNA1A ATXN7
27 ocular motility disease 9.6 FRMD7 CACNA1A ATXN7
28 spinal and bulbar muscular atrophy, x-linked 1 9.6 CACNA1A ATXN7
29 familial hemiplegic migraine 9.6 CACNA1B CACNA1A
30 spinocerebellar ataxia 6 9.5 CACNA1B CACNA1A ATXN7
31 cerebellar ataxia type 9 9.5 KCND3 KCNC3 CACNA1A ATXN7
32 episodic ataxia, type 2 9.3 KCNC3 CACNA1B CACNA1A ATXN7
33 hereditary ataxia 9.1 TRPC3 KCND3 KCNC3 CACNA1A ATXN7
34 cerebellar ataxia type 41 9.0 TRPC3 KCND3 KCNC3 HPCAL4 CPNE9 CACNA1G
35 episodic ataxia 8.6 UBR4 KCND3 KCNC3 CACNA1G CACNA1B CACNA1A

Graphical network of the top 20 diseases related to Cerebellar Ataxia Type 42:



Diseases related to Cerebellar Ataxia Type 42

Symptoms & Phenotypes for Cerebellar Ataxia Type 42

MGI Mouse Phenotypes related to Cerebellar Ataxia Type 42:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 ATXN7 CACNA1A CACNA1B CACNA1G HPCAL4 KCNC3

Drugs & Therapeutics for Cerebellar Ataxia Type 42

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia Type 42

Genetic Tests for Cerebellar Ataxia Type 42

Anatomical Context for Cerebellar Ataxia Type 42

Publications for Cerebellar Ataxia Type 42

Articles related to Cerebellar Ataxia Type 42:

# Title Authors PMID Year
1
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. 61
31836334 2020
2
Congenetic Hybrids Derived from Dearomatized Isoprenylated Acylphloroglucinol with Opposite Effects on Cav3.1 Low Voltage-Gated Ca2+ Channel. 61
31999455 2020
3
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42. 61
31229688 2019
4
A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review. 61
30200108 2018
5
SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia. 61
28490766 2017

Variations for Cerebellar Ataxia Type 42

Expression for Cerebellar Ataxia Type 42

Search GEO for disease gene expression data for Cerebellar Ataxia Type 42.

Pathways for Cerebellar Ataxia Type 42

GO Terms for Cerebellar Ataxia Type 42

Cellular components related to Cerebellar Ataxia Type 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.46 KCND3 KCNC3 CACNA1B CACNA1A
2 neuronal cell body GO:0043025 9.35 KCND3 KCNC3 FRMD7 CACNA1B CACNA1A
3 voltage-gated calcium channel complex GO:0005891 8.8 CACNA1G CACNA1B CACNA1A

Biological processes related to Cerebellar Ataxia Type 42 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.73 TRPC3 KCND3 KCNC3 CACNA1G CACNA1B CACNA1A
2 chemical synaptic transmission GO:0007268 9.67 CACNA1G CACNA1B CACNA1A
3 calcium ion transport GO:0006816 9.67 TRPC3 CACNA1G CACNA1B CACNA1A
4 transmembrane transport GO:0055085 9.63 TRPC3 KCND3 KCNC3 CACNA1G CACNA1B CACNA1A
5 calcium ion transmembrane transport GO:0070588 9.62 TRPC3 CACNA1G CACNA1B CACNA1A
6 regulation of heart rate by cardiac conduction GO:0086091 9.48 KCND3 CACNA1G
7 membrane depolarization GO:0051899 9.46 CACNA1B CACNA1A
8 response to pain GO:0048265 9.43 CACNA1B CACNA1A
9 response to amyloid-beta GO:1904645 9.4 CACNA1B CACNA1A
10 calcium ion import GO:0070509 9.13 CACNA1G CACNA1B CACNA1A
11 regulation of ion transmembrane transport GO:0034765 9.02 KCND3 KCNC3 CACNA1G CACNA1B CACNA1A

Molecular functions related to Cerebellar Ataxia Type 42 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.46 TRPC3 CACNA1G CACNA1B CACNA1A
2 voltage-gated calcium channel activity GO:0005245 9.43 CACNA1G CACNA1B CACNA1A
3 voltage-gated ion channel activity GO:0005244 9.35 KCND3 KCNC3 CACNA1G CACNA1B CACNA1A
4 high voltage-gated calcium channel activity GO:0008331 9.32 CACNA1B CACNA1A
5 ion channel activity GO:0005216 9.1 TRPC3 KCND3 KCNC3 CACNA1G CACNA1B CACNA1A

Sources for Cerebellar Ataxia Type 42

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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