SCA41
MCID: SPN323
MIFTS: 24

Spinocerebellar Ataxia 41 (SCA41)

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

Aliases & Classifications for Spinocerebellar Ataxia 41

MalaCards integrated aliases for Spinocerebellar Ataxia 41:

Name: Spinocerebellar Ataxia 41 58 76 30 6
Sca41 58 60 76
Spinocerebellar Ataxia Type 41 60 17
Ataxia, Spinocerebellar, Type 41 41

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 41
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset
progressive disorder
one patient with a de novo mutation has been reported (last curated june 2015)


HPO:

33
spinocerebellar ataxia 41:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 616410
MeSH 45 D020754
ICD10 via Orphanet 35 G11.2
Orphanet 60 ORPHA458798

Summaries for Spinocerebellar Ataxia 41

UniProtKB/Swiss-Prot : 76 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, is also known as sca41. An important gene associated with Spinocerebellar Ataxia 41 is TRPC3 (Transient Receptor Potential Cation Channel Subfamily C Member 3). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are gait ataxia and cerebellar vermis atrophy

Description from OMIM: 616410

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 Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 41

Human phenotypes related to Spinocerebellar Ataxia 41:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
2 cerebellar vermis atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0006855
3 postural instability 60 33 frequent (33%) Frequent (79-30%) HP:0002172
4 ataxia 33 HP:0001251
5 cerebellar atrophy 33 HP:0001272
6 unsteady gait 33 HP:0002317

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
cerebellar atrophy
imbalance
spinocerebellar ataxia
gait instability

Clinical features from OMIM:

616410

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 30 TRPC3

Anatomical Context for Spinocerebellar Ataxia 41

MalaCards organs/tissues related to Spinocerebellar Ataxia 41:

42
Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 41

Articles related to Spinocerebellar Ataxia 41:

# Title Authors Year
1
Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? ( 25477146 )
2015

Variations for Spinocerebellar Ataxia 41

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

76
# Symbol AA change Variation ID SNP ID
1 TRPC3 p.Arg762His VAR_073835

ClinVar genetic disease variations for Spinocerebellar Ataxia 41:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPC3 NM_001130698.2(TRPC3): c.2285G> A (p.Arg762His) single nucleotide variant Pathogenic rs142339351 GRCh37 Chromosome 4, 122824185: 122824185
2 TRPC3 NM_001130698.2(TRPC3): c.2285G> A (p.Arg762His) single nucleotide variant Pathogenic rs142339351 GRCh38 Chromosome 4, 121903030: 121903030

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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