MCID: SPN419
MIFTS: 20

Spinocerebellar Ataxia 45

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 45

MalaCards integrated aliases for Spinocerebellar Ataxia 45:

Name: Spinocerebellar Ataxia 45 57 12 75 6
Sca45 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (after age 40 years)
slow progression
one family and 1 unrelated patient have been reported (last curated november 2017)


Classifications:



External Ids:

OMIM 57 617769
Disease Ontology 12 DOID:0080287
MeSH 44 D020754

Summaries for Spinocerebellar Ataxia 45

UniProtKB/Swiss-Prot : 75 Spinocerebellar ataxia 45: 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. SCA45 is a slowly progressive, autosomal dominant form with onset in adulthood.

MalaCards based summary : Spinocerebellar Ataxia 45, is also known as sca45. An important gene associated with Spinocerebellar Ataxia 45 is FAT2 (FAT Atypical Cadherin 2). Affiliated tissues include spinal cord, cerebellum and eye.

Description from OMIM: 617769

Related Diseases for Spinocerebellar Ataxia 45

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 45

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus (in some patients)

Neurologic Central Nervous System:
spinocerebellar ataxia
gait ataxia
limb ataxia
dysarthria
cerebellar atrophy


Clinical features from OMIM:

617769

Drugs & Therapeutics for Spinocerebellar Ataxia 45

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 45

Genetic Tests for Spinocerebellar Ataxia 45

Anatomical Context for Spinocerebellar Ataxia 45

MalaCards organs/tissues related to Spinocerebellar Ataxia 45:

41
Spinal Cord, Cerebellum, Eye

Publications for Spinocerebellar Ataxia 45

Variations for Spinocerebellar Ataxia 45

ClinVar genetic disease variations for Spinocerebellar Ataxia 45:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FAT2 NM_001447.2(FAT2): c.10758G> C (p.Lys3586Asn) single nucleotide variant Pathogenic rs770597316 GRCh37 Chromosome 5, 150901396: 150901396
2 FAT2 NM_001447.2(FAT2): c.10758G> C (p.Lys3586Asn) single nucleotide variant Pathogenic rs770597316 GRCh38 Chromosome 5, 151521835: 151521835
3 FAT2 NM_001447.2(FAT2): c.10946G> A (p.Arg3649Gln) single nucleotide variant Pathogenic rs201335279 GRCh38 Chromosome 5, 151521647: 151521647
4 FAT2 NM_001447.2(FAT2): c.10946G> A (p.Arg3649Gln) single nucleotide variant Pathogenic rs201335279 GRCh37 Chromosome 5, 150901208: 150901208

Expression for Spinocerebellar Ataxia 45

Search GEO for disease gene expression data for Spinocerebellar Ataxia 45.

Pathways for Spinocerebellar Ataxia 45

GO Terms for Spinocerebellar Ataxia 45

Sources for Spinocerebellar Ataxia 45

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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