SCA41
MCID: SPN323
MIFTS: 25

Spinocerebellar Ataxia 41 (SCA41)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 41

MalaCards integrated aliases for Spinocerebellar Ataxia 41:

Name: Spinocerebellar Ataxia 41 57 72 29 6
Sca41 57 58 72
Spinocerebellar Ataxia Type 41 58 17
Ataxia, Spinocerebellar, Type 41 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 41
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
progressive disorder
one patient with a de novo mutation has been reported (last curated june 2015)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 41:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 616410
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
ICD10 via Orphanet 33 G11.2
Orphanet 58 ORPHA458798

Summaries for Spinocerebellar Ataxia 41

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 41: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.

MalaCards based summary : Spinocerebellar Ataxia 41, also known as sca41, is related to cerebellar ataxia type 41. An important gene associated with Spinocerebellar Ataxia 41 is TRPC3 (Transient Receptor Potential Cation Channel Subfamily C Member 3). Affiliated tissues include eye, liver and cerebellum, and related phenotypes are gait ataxia and cerebellar vermis atrophy

More information from OMIM: 616410 PS164400

Related Diseases for Spinocerebellar Ataxia 41

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 41 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar ataxia type 41 11.0

Symptoms & Phenotypes for Spinocerebellar Ataxia 41

Human phenotypes related to Spinocerebellar Ataxia 41:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
2 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
3 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
4 ataxia 31 HP:0001251
5 cerebellar atrophy 31 HP:0001272
6 unsteady gait 31 HP:0002317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cerebellar atrophy
imbalance
spinocerebellar ataxia
gait instability

Clinical features from OMIM®:

616410 (Updated 20-May-2021)

Drugs & Therapeutics for Spinocerebellar Ataxia 41

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 41

Genetic Tests for Spinocerebellar Ataxia 41

Genetic tests related to Spinocerebellar Ataxia 41:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 41 29 TRPC3

Anatomical Context for Spinocerebellar Ataxia 41

MalaCards organs/tissues related to Spinocerebellar Ataxia 41:

40
Eye, Liver, Cerebellum, Spinal Cord

Publications for Spinocerebellar Ataxia 41

Articles related to Spinocerebellar Ataxia 41:

# Title Authors PMID Year
1
Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? 57 6
25477146 2015
2
Candidate screening of the TRPC3 gene in cerebellar ataxia. 57
21321808 2011
3
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. 57
19351902 2009
4
Antiproliferative, differentiating and apoptotic effects elicited by imidazo[1,2-a]pyrazine derivatives. 61
9888266 1999
5
Antiproliferative effects of imidazo[1,2-a]pyrazine derivatives on the Dami cell line. 61
9278095 1997
6
Modulation of the megakaryoblastic Dami cell line differentiation by phosphodiesterase inhibitors and imidazo[1,2-a]pyrazine derivatives. 61
9225365 1997

Variations for Spinocerebellar Ataxia 41

ClinVar genetic disease variations for Spinocerebellar Ataxia 41:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPC3 NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His) SNV Pathogenic 192274 rs142339351 GRCh37: 4:122824185-122824185
GRCh38: 4:121903030-121903030
2 TRPC3 NM_001130698.2(TRPC3):c.2383C>T (p.Arg795Ter) SNV Pathogenic 998288 GRCh37: 4:122824087-122824087
GRCh38: 4:121902932-121902932

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 41:

72
# Symbol AA change Variation ID SNP ID
1 TRPC3 p.Arg762His VAR_073835

Expression for Spinocerebellar Ataxia 41

Search GEO for disease gene expression data for Spinocerebellar Ataxia 41.

Pathways for Spinocerebellar Ataxia 41

GO Terms for Spinocerebellar Ataxia 41

Sources for Spinocerebellar Ataxia 41

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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