SCA41
MCID: CRB219
MIFTS: 22

Cerebellar Ataxia Type 41 (SCA41)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia Type 41

MalaCards integrated aliases for Cerebellar Ataxia Type 41:

Name: Cerebellar Ataxia Type 41 12 15
Sca41 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111744

Summaries for Cerebellar Ataxia Type 41

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that has material basis in heterozygous mutation in TRPC3 on chromosome 4q27.

MalaCards based summary : Cerebellar Ataxia Type 41, also known as sca41, is related to spinocerebellar ataxia 41 and spinocerebellar ataxia, autosomal recessive 13. An important gene associated with Cerebellar Ataxia Type 41 is CCDC88C (Coiled-Coil Domain Containing 88C), and among its related pathways/superpathways are CREB Pathway and Transmission across Chemical Synapses. Related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Cerebellar Ataxia Type 41

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 41 11.6
2 spinocerebellar ataxia, autosomal recessive 13 10.2 KCNC3 GRM1
3 spinocerebellar ataxia 14 10.2 TRPC3 PRKCG
4 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.1 KCNC3 GRM1
5 episodic ataxia, type 6 10.1 KCNC3 GRID2
6 cerebellar ataxia type 47 10.1 KCNC3 ATXN1
7 spinocerebellar ataxia 18 10.0 GRID2 AFG3L2
8 spinocerebellar ataxia type 19/22 10.0 KCND3 GRM1
9 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.0 PRKCG ATXN1
10 depression 10.0 PRKCG GRM1 GRID2
11 spinocerebellar ataxia 21 10.0 KCNC3 AFG3L2
12 cerebellar ataxia type 48 10.0 CACNA1G ATXN1
13 cerebellar ataxia type 9 10.0 KCND3 KCNC3
14 spinocerebellar ataxia 15 9.9 KCNC3 AFG3L2
15 episodic ataxia, type 2 9.9 PRKCG KCNC3
16 spinocerebellar ataxia 6 9.9 PRKCG ATXN1
17 spinocerebellar ataxia 13 9.8 KCND3 KCNC3
18 vertebral artery occlusion 9.8 HPCAL4 CPNE9
19 episodic ataxia, type 1 9.7 KCND3 KCNC3
20 spinocerebellar ataxia 30 9.5 KCND3 ATXN1 AFG3L2
21 cerebellar disease 9.0 PRKCG KCNC3 GRM1 GRID2 ATXN1 AFG3L2
22 dystonia 8.8 PRKCG KCND3 ATXN1 AFG3L2
23 episodic ataxia 8.6 PRKCG KCND3 KCNC3 CACNA1G ATXN1 AFG3L2
24 cerebellar ataxia type 42 8.5 TRPC3 KCND3 KCNC3 HPCAL4 CPNE9 CACNA1G
25 autosomal dominant cerebellar ataxia 8.4 PRKCG KCND3 KCNC3 GRM1 CACNA1G ATXN1
26 hereditary ataxia 8.1 TRPC3 PRKCG KCND3 KCNC3 GRM1 GRID2

Graphical network of the top 20 diseases related to Cerebellar Ataxia Type 41:



Diseases related to Cerebellar Ataxia Type 41

Symptoms & Phenotypes for Cerebellar Ataxia Type 41

MGI Mouse Phenotypes related to Cerebellar Ataxia Type 41:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 AFG3L2 ATXN1 CACNA1G GRID2 GRM1 HPCAL4
2 growth/size/body region MP:0005378 9.56 AFG3L2 ATXN1 CACNA1G GRID2 GRM1 KCNC3
3 nervous system MP:0003631 9.23 AFG3L2 ATXN1 CACNA1G GRID2 GRM1 KCNC3

Drugs & Therapeutics for Cerebellar Ataxia Type 41

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia Type 41

Genetic Tests for Cerebellar Ataxia Type 41

Anatomical Context for Cerebellar Ataxia Type 41

Publications for Cerebellar Ataxia Type 41

Articles related to Cerebellar Ataxia Type 41:

# Title Authors PMID Year
1
Antiproliferative, differentiating and apoptotic effects elicited by imidazo[1,2-a]pyrazine derivatives. 61
9888266 1999
2
Antiproliferative effects of imidazo[1,2-a]pyrazine derivatives on the Dami cell line. 61
9278095 1997
3
Modulation of the megakaryoblastic Dami cell line differentiation by phosphodiesterase inhibitors and imidazo[1,2-a]pyrazine derivatives. 61
9225365 1997

Variations for Cerebellar Ataxia Type 41

Expression for Cerebellar Ataxia Type 41

Search GEO for disease gene expression data for Cerebellar Ataxia Type 41.

Pathways for Cerebellar Ataxia Type 41

Pathways related to Cerebellar Ataxia Type 41 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 TRPC3 PRKCG GRM1 GRID2 CACNA1G
2
Show member pathways
12.52 PRKCG KCND3 KCNC3 GRM1
3 11.86 PRKCG KCND3 KCNC3
4
Show member pathways
11.63 PRKCG GRM1 CACNA1G
5 11.29 TRPC3 PRKCG KCND3 KCNC3 GRM1 ATXN1
6 11.15 KCND3 CACNA1G
7 10.91 PRKCG GRM1 GRID2

GO Terms for Cerebellar Ataxia Type 41

Cellular components related to Cerebellar Ataxia Type 41 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic density GO:0014069 9.33 PRKCG KCND3 GRM1
2 postsynaptic density membrane GO:0098839 9.26 GRM1 GRID2
3 postsynaptic membrane GO:0045211 9.13 KCND3 KCNC3 GRID2
4 dendrite GO:0030425 8.92 PRKCG KCND3 KCNC3 GRM1

Biological processes related to Cerebellar Ataxia Type 41 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.56 TRPC3 KCND3 KCNC3 CACNA1G
2 chemical synaptic transmission GO:0007268 9.5 PRKCG GRM1 CACNA1G
3 regulation of heart rate by cardiac conduction GO:0086091 9.16 KCND3 CACNA1G
4 regulation of ion transmembrane transport GO:0034765 9.13 KCND3 KCNC3 CACNA1G
5 ion transport GO:0006811 9.02 TRPC3 KCND3 KCNC3 GRID2 CACNA1G

Molecular functions related to Cerebellar Ataxia Type 41 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.26 CCDC88C ATXN1
2 glutamate receptor activity GO:0008066 9.16 GRM1 GRID2
3 voltage-gated ion channel activity GO:0005244 9.13 KCND3 KCNC3 CACNA1G
4 ion channel activity GO:0005216 9.02 TRPC3 KCND3 KCNC3 GRID2 CACNA1G

Sources for Cerebellar Ataxia Type 41

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
Content
Loading form....