SCA47
MCID: CRB218
MIFTS: 14

Cerebellar Ataxia Type 47 (SCA47)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia Type 47

MalaCards integrated aliases for Cerebellar Ataxia Type 47:

Name: Cerebellar Ataxia Type 47 12 15
Sca47 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111743

Summaries for Cerebellar Ataxia Type 47

Disease Ontology : 12 An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has material basis in heterozygous mutation in PUM1 on chromosome 1p35.2.

MalaCards based summary : Cerebellar Ataxia Type 47, also known as sca47, is related to spinocerebellar ataxia 47 and bone benign neoplasm. An important gene associated with Cerebellar Ataxia Type 47 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways is Spinocerebellar ataxia.

Related Diseases for Cerebellar Ataxia Type 47

Diseases in the Autosomal Dominant Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia Cerebellar Ataxia Type 42
Cerebellar Ataxia Type 47 Cerebellar Ataxia Type 41
Cerebellar Ataxia Type 43 Cerebellar Ataxia Type 48
Cerebellar Ataxia Type 9 Congenital Cerebellar Ataxia Due to Rnu12 Mutation
Autosomal Recessive Cerebellar Ataxia Due to a Dna Repair Defect Autosomal Recessive Congenital Cerebellar Ataxia
Autosomal Dominant Cerebellar Ataxia Type I Autosomal Dominant Cerebellar Ataxia Type Iii
Autosomal Dominant Cerebellar Ataxia Type Iv

Diseases related to Cerebellar Ataxia Type 47 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 47 12.0
2 bone benign neoplasm 10.2 SERPINA3 ERCC6
3 communicating hydrocephalus 10.2 SERPINA3 ERCC6
4 ossifying fibroma 10.2 SERPINA3 ERCC6
5 fatal familial insomnia 10.2 SERPINA3 ERCC6
6 neuromuscular junction disease 10.2 SERPINA3 ERCC6
7 teeth hard tissue disease 10.2 SERPINA3 ERCC6
8 degeneration of macula and posterior pole 10.2 SERPINA3 ERCC6
9 testicular disease 10.1 SERPINA3 ERCC6
10 cranial nerve disease 10.1 SERPINA3 ERCC6
11 spinal and bulbar muscular atrophy, x-linked 1 10.1 ERCC6 ATXN1
12 pelizaeus-merzbacher disease 10.1 SERPINA3 ERCC6
13 auditory system disease 10.1 SERPINA3 ERCC6
14 lens disease 10.1 SERPINA3 ERCC6
15 intestinal benign neoplasm 10.1 SERPINA3 ERCC6
16 hypomyelinating leukodystrophy 10.1 SERPINA3 ERCC6
17 cerebral degeneration 10.1 SERPINA3 ERCC6
18 multiple system atrophy 1 10.1 SERPINA3 ATXN1
19 bone resorption disease 10.0 SERPINA3 ERCC6
20 cerebellar ataxia type 41 10.0 KCNC3 ATXN1
21 gastrointestinal system benign neoplasm 10.0 SERPINA3 ERCC6
22 spinocerebellar ataxia 7 10.0 ATXN7L3B ATXN1
23 corneal disease 10.0 SERPINA3 ERCC6
24 bone remodeling disease 10.0 SERPINA3 ERCC6
25 dentatorubral-pallidoluysian atrophy 10.0 KCNC3 ATXN1
26 machado-joseph disease 9.9 ERCC6 ATXN1
27 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9 SERPINA3 ERCC6 ATXN1
28 autosomal genetic disease 9.9 SERPINA3 ERCC6 ATXN1
29 spinocerebellar ataxia, autosomal recessive 24 9.7 PLD3 FAT2
30 spinocerebellar ataxia, autosomal recessive 21 9.7 PLD3 FAT2
31 x-linked recessive disease 9.7 SERPINA3 ERCC6
32 episodic ataxia 9.7 KCNC3 ATXN1
33 cerebellar disease 9.5 SERPINA3 KCNC3 ERCC6 ATXN1
34 autosomal dominant cerebellar ataxia 9.5 SERPINA3 KCNC3 ERCC6 ATXN1
35 hereditary ataxia 9.3 PUM1 KCNC3 FAT2 ATXN1

Graphical network of the top 20 diseases related to Cerebellar Ataxia Type 47:



Diseases related to Cerebellar Ataxia Type 47

Symptoms & Phenotypes for Cerebellar Ataxia Type 47

Drugs & Therapeutics for Cerebellar Ataxia Type 47

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia Type 47

Genetic Tests for Cerebellar Ataxia Type 47

Anatomical Context for Cerebellar Ataxia Type 47

Publications for Cerebellar Ataxia Type 47

Articles related to Cerebellar Ataxia Type 47:

# Title Authors PMID Year
1
Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia. 61
31422002 2019

Variations for Cerebellar Ataxia Type 47

Expression for Cerebellar Ataxia Type 47

Search GEO for disease gene expression data for Cerebellar Ataxia Type 47.

Pathways for Cerebellar Ataxia Type 47

Pathways related to Cerebellar Ataxia Type 47 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 PUM1 KCNC3 ATXN1

GO Terms for Cerebellar Ataxia Type 47

Sources for Cerebellar Ataxia Type 47

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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