SCA45
MCID: SPN419
MIFTS: 22

Spinocerebellar Ataxia 45 (SCA45)

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 45

MalaCards integrated aliases for Spinocerebellar Ataxia 45:

Name: Spinocerebellar Ataxia 45 58 12 76 6
Sca45 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
spinocerebellar ataxia 45:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080287
OMIM 58 617769
MeSH 45 D020754

Summaries for Spinocerebellar Ataxia 45

UniProtKB/Swiss-Prot : 76 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 eye, spinal cord and cerebellum, and related phenotypes are dysarthria and gait ataxia

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 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 45

Human phenotypes related to Spinocerebellar Ataxia 45:

33
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 gait ataxia 33 HP:0002066
3 limb ataxia 33 HP:0002070
4 cerebellar atrophy 33 HP:0001272

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
gait ataxia
limb ataxia
cerebellar atrophy
spinocerebellar ataxia

Head And Neck Eyes:
nystagmus (in some patients)

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:

42
Eye, Spinal Cord, Cerebellum, Skin, Liver

Publications for Spinocerebellar Ataxia 45

Articles related to Spinocerebellar Ataxia 45:

# Title Authors Year
1
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. ( 29053796 )
2017

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 Uncertain significance rs770597316 GRCh38 Chromosome 5, 151521835: 151521835
2 FAT2 NM_001447.2(FAT2): c.10758G> C (p.Lys3586Asn) single nucleotide variant Uncertain significance rs770597316 GRCh37 Chromosome 5, 150901396: 150901396
3 FAT2 NM_001447.2(FAT2): c.10946G> A (p.Arg3649Gln) single nucleotide variant Uncertain significance rs201335279 GRCh38 Chromosome 5, 151521647: 151521647
4 FAT2 NM_001447.2(FAT2): c.10946G> A (p.Arg3649Gln) single nucleotide variant Uncertain significance 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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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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