MCID: SPN323
MIFTS: 23

Spinocerebellar Ataxia 41

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

Aliases & Classifications for Spinocerebellar Ataxia 41

MalaCards integrated aliases for Spinocerebellar Ataxia 41:

Name: Spinocerebellar Ataxia 41 57 75 29 6
Sca41 57 59 75
Ataxia, Spinocerebellar, Type 41 40
Spinocerebellar Ataxia Type 41 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 41
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 41:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616410
Orphanet 59 ORPHA458798
ICD10 via Orphanet 34 G11.2
MeSH 44 D020754

Summaries for Spinocerebellar Ataxia 41

UniProtKB/Swiss-Prot : 75 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 spinal cord, cerebellum and eye, and related phenotypes are gait ataxia and postural instability

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, Autosomal Recessive 1
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 Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 41

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spinocerebellar ataxia
gait instability
imbalance
cerebellar atrophy


Clinical features from OMIM:

616410

Human phenotypes related to Spinocerebellar Ataxia 41:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
2 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
3 cerebellar vermis atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006855
4 cerebellar atrophy 32 HP:0001272
5 unsteady gait 32 HP:0002317

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:

41
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia 41

Variations for Spinocerebellar Ataxia 41

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

75
# 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_001130698.1(TRPC3): c.2285G> A (p.Arg762His) single nucleotide variant Pathogenic rs142339351 GRCh37 Chromosome 4, 122824185: 122824185
2 TRPC3 NM_001130698.1(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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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