SCA48
MCID: CRB221
MIFTS: 20

Cerebellar Ataxia Type 48 (SCA48)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia Type 48

MalaCards integrated aliases for Cerebellar Ataxia Type 48:

Name: Cerebellar Ataxia Type 48 12 15
Sca48 12

Classifications:



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Disease Ontology 12 DOID:0111746

Summaries for Cerebellar Ataxia Type 48

Disease Ontology : 12 An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has material basis in heterozygous mutation in STUB1 on chromosome 16p13.3.

MalaCards based summary : Cerebellar Ataxia Type 48, also known as sca48, is related to autosomal dominant cerebellar ataxia and spinocerebellar ataxia 48. An important gene associated with Cerebellar Ataxia Type 48 is STUB1 (STIP1 Homology And U-Box Containing Protein 1). Affiliated tissues include cerebellum, and related phenotypes are Increased transferrin (TF) endocytosis (mild increase), increased transferrin (TF) endosome elongation and muscle

Related Diseases for Cerebellar Ataxia Type 48

Graphical network of the top 20 diseases related to Cerebellar Ataxia Type 48:



Diseases related to Cerebellar Ataxia Type 48

Symptoms & Phenotypes for Cerebellar Ataxia Type 48

GenomeRNAi Phenotypes related to Cerebellar Ataxia Type 48 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased transferrin (TF) endocytosis (mild increase), increased transferrin (TF) endosome elongation GR00363-A 8.32 UBR4

MGI Mouse Phenotypes related to Cerebellar Ataxia Type 48:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.26 ATXN1 GAN HSPB8 STUB1
2 nervous system MP:0003631 9.1 ATXN1 CACNA1G GAN HSPB8 STUB1 UBR4

Drugs & Therapeutics for Cerebellar Ataxia Type 48

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia Type 48

Genetic Tests for Cerebellar Ataxia Type 48

Anatomical Context for Cerebellar Ataxia Type 48

MalaCards organs/tissues related to Cerebellar Ataxia Type 48:

40
Cerebellum

Publications for Cerebellar Ataxia Type 48

Articles related to Cerebellar Ataxia Type 48:

# Title Authors PMID Year
1
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation. 61
32337344 2020
2
Of cognition and cerebellum in SCA48. 61
32009217 2020
3
The "crab sign": an imaging feature of spinocerebellar ataxia type 48. 61
32285148 2020
4
Spinocerebellar ataxia type 48: last but not least. 61
32342324 2020
5
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. 61
31571321 2020
6
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. 61
31741143 2020
7
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. 61
31126790 2019
8
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). 61
30381368 2018

Variations for Cerebellar Ataxia Type 48

Expression for Cerebellar Ataxia Type 48

Search GEO for disease gene expression data for Cerebellar Ataxia Type 48.

Pathways for Cerebellar Ataxia Type 48

GO Terms for Cerebellar Ataxia Type 48

Cellular components related to Cerebellar Ataxia Type 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.7 UBR4 STUB1 HSPB8 GAN CHMP7 CACNA1G
2 chaperone complex GO:0101031 8.96 STUB1 HSPB8
3 nuclear inclusion body GO:0042405 8.62 STUB1 ATXN1

Biological processes related to Cerebellar Ataxia Type 48 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.13 UBR4 STUB1 GAN
2 negative regulation of protein binding GO:0032091 8.62 STUB1 FRMD7

Sources for Cerebellar Ataxia Type 48

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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