SCA45
MCID: SPN419
MIFTS: 36

Spinocerebellar Ataxia 45 (SCA45)

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 45

MalaCards integrated aliases for Spinocerebellar Ataxia 45:

Name: Spinocerebellar Ataxia 45 57 12 72 29 6 15
Sca45 57 58 72
Spinocerebellar Ataxia Type 45 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
adult onset (after age 40 years)
one family and 1 unrelated patient have been reported (last curated november 2017)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 45:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080287
OMIM® 57 617769
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
Orphanet 58 ORPHA589527

Summaries for Spinocerebellar Ataxia 45

UniProtKB/Swiss-Prot : 72 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, also known as sca45, is related to huntington disease-like 1 and epilepsy, familial temporal lobe, 8. An important gene associated with Spinocerebellar Ataxia 45 is FAT2 (FAT Atypical Cadherin 2), and among its related pathways/superpathways are Neuroscience and Hippo signaling pathway - multiple species. Affiliated tissues include eye, liver and spinal cord, and related phenotypes are nystagmus and dysarthria

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that has material basis in heterozygous mutation in the FAT2 gene on chromosome 5q33.

More information from OMIM: 617769 PS164400

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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 45 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 huntington disease-like 1 10.0 PRNP ATN1
2 epilepsy, familial temporal lobe, 8 10.0 TMTC1 RBFOX3
3 akinetic mutism 10.0 PRNP ENO2
4 wilson-turner x-linked mental retardation syndrome 10.0 YAP1 FAT4 AMOTL1
5 cauda equina neoplasm 10.0 RBFOX3 ENO2
6 cerebellar liponeurocytoma 9.9 RBFOX3 ENO2
7 spinal cord oligodendroglioma 9.9 RBFOX3 ENO2
8 van maldergem syndrome 1 9.9 FAT4 CDH17
9 gangliocytoma 9.9 RBFOX3 ENO2
10 subleukemic leukemia 9.9 RBFOX3 ENO2
11 myasthenic syndrome, congenital, 12 9.9 THY1 FAT1
12 gastric fundus cancer 9.9 YAP1 FAT1 CDH17
13 van maldergem syndrome 9.9 FAT4 FAT3 CDH17
14 central neurocytoma 9.8 RBFOX3 ENO2
15 cerebral ventricle cancer 9.7 YAP1 RBFOX3 ENO2
16 cerebrum cancer 9.7 YAP1 RBFOX3 ENO2
17 supratentorial cancer 9.7 YAP1 RBFOX3 ENO2
18 crisponi/cold-induced sweating syndrome 1 9.6 RBFOX3 ENO2
19 disease of mental health 8.4 TMTC1 THY1 TFEB RBFOX3 PRNP ENO2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 45:



Diseases related to Spinocerebellar Ataxia 45

Symptoms & Phenotypes for Spinocerebellar Ataxia 45

Human phenotypes related to Spinocerebellar Ataxia 45:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 dysarthria 31 HP:0001260
3 gait ataxia 31 HP:0002066
4 cerebellar atrophy 31 HP:0001272
5 limb ataxia 31 HP:0002070

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Eyes:
nystagmus (in some patients)

Clinical features from OMIM®:

617769 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 45:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.76 ATN1 FAT1 FBLN7 KCNT2 PRNP SLC36A1
2 nervous system MP:0003631 9.65 ATN1 ENO2 FAT1 FAT3 FAT4 KCNT2
3 normal MP:0002873 9.17 AMOTL1 ATN1 FAT2 KCNT2 PRNP TFEB

Drugs & Therapeutics for Spinocerebellar Ataxia 45

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 45

Genetic Tests for Spinocerebellar Ataxia 45

Genetic tests related to Spinocerebellar Ataxia 45:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 45 29 FAT2

Anatomical Context for Spinocerebellar Ataxia 45

MalaCards organs/tissues related to Spinocerebellar Ataxia 45:

40
Eye, Liver, Spinal Cord, Cerebellum, Temporal Lobe

Publications for Spinocerebellar Ataxia 45

Articles related to Spinocerebellar Ataxia 45:

# Title Authors PMID Year
1
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 57 6
29053796 2017
2
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. 61
31230722 2019
3
Hereditary ataxias and paraparesias: clinical and genetic update. 61
29847346 2018

Variations for Spinocerebellar Ataxia 45

ClinVar genetic disease variations for Spinocerebellar Ataxia 45:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAT2 , SLC36A1 NM_001447.2(FAT2):c.10946G>A (p.Arg3649Gln) SNV Uncertain significance 446266 rs201335279 GRCh37: 5:150901208-150901208
GRCh38: 5:151521647-151521647
2 FAT2 , SLC36A1 NM_001447.2(FAT2):c.10758G>C (p.Lys3586Asn) SNV Uncertain significance 446265 rs770597316 GRCh37: 5:150901396-150901396
GRCh38: 5:151521835-151521835
3 FAT2 , SLC36A1 NC_000005.10:g.151510102G>A SNV Uncertain significance 973877 GRCh37: 5:150889663-150889663
GRCh38: 5:151510102-151510102
4 FAT2 , SLC36A1 NM_001447.3(FAT2):c.10673G>A (p.Arg3558Gln) SNV Uncertain significance 982936 GRCh37: 5:150901481-150901481
GRCh38: 5:151521920-151521920

Expression for Spinocerebellar Ataxia 45

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

Pathways for Spinocerebellar Ataxia 45

Pathways related to Spinocerebellar Ataxia 45 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 THY1 RBFOX3 PRNP ENO2
2 10.62 YAP1 FAT4
3 10.28 YAP1 AMOTL1

GO Terms for Spinocerebellar Ataxia 45

Cellular components related to Spinocerebellar Ataxia 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.07 YAP1 TMTC1 THY1 TFEB SLC36A1 PRNP
2 plasma membrane GO:0005886 9.7 THY1 SLC36A1 PRNP KCNT2 FAT4 FAT3
3 cell junction GO:0030054 9.55 FAT2 FAT1 CDH17 ATN1 AMOTL1
4 anchored component of external side of plasma membrane GO:0031362 8.62 THY1 PRNP

Biological processes related to Spinocerebellar Ataxia 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.7 THY1 FBLN7 FAT4 FAT3 FAT2 FAT1
2 hippo signaling GO:0035329 9.43 YAP1 FAT4 AMOTL1
3 negative regulation of T cell receptor signaling pathway GO:0050860 9.37 THY1 PRNP
4 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.35 FAT4 FAT3 FAT2 FAT1 CDH17
5 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.32 YAP1 FAT4
6 cell-cell adhesion GO:0098609 9.1 THY1 FAT4 FAT3 FAT2 FAT1 CDH17

Molecular functions related to Spinocerebellar Ataxia 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.17 PRNP FBLN7 FAT4 FAT3 FAT2 FAT1

Sources for Spinocerebellar Ataxia 45

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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