SCA43
MCID: CRB220
MIFTS: 12

Cerebellar Ataxia Type 43 (SCA43)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Ataxia Type 43

MalaCards integrated aliases for Cerebellar Ataxia Type 43:

Name: Cerebellar Ataxia Type 43 12 15
Sca43 12

Classifications:



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Disease Ontology 12 DOID:0111745

Summaries for Cerebellar Ataxia Type 43

Disease Ontology : 12 An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has material basis in heterozygous mutation in MME on chromosome 3q25.2.

MalaCards based summary : Cerebellar Ataxia Type 43, also known as sca43, is related to spinocerebellar ataxia 43 and charcot-marie-tooth disease, axonal, type 2t. An important gene associated with Cerebellar Ataxia Type 43 is FER1L6 (Fer-1 Like Family Member 6).

Related Diseases for Cerebellar Ataxia Type 43

Graphical network of the top 20 diseases related to Cerebellar Ataxia Type 43:



Diseases related to Cerebellar Ataxia Type 43

Symptoms & Phenotypes for Cerebellar Ataxia Type 43

Drugs & Therapeutics for Cerebellar Ataxia Type 43

Search Clinical Trials , NIH Clinical Center for Cerebellar Ataxia Type 43

Genetic Tests for Cerebellar Ataxia Type 43

Anatomical Context for Cerebellar Ataxia Type 43

Publications for Cerebellar Ataxia Type 43

Articles related to Cerebellar Ataxia Type 43:

# Title Authors PMID Year
1
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). 61
27583304 2016

Variations for Cerebellar Ataxia Type 43

Expression for Cerebellar Ataxia Type 43

Search GEO for disease gene expression data for Cerebellar Ataxia Type 43.

Pathways for Cerebellar Ataxia Type 43

GO Terms for Cerebellar Ataxia Type 43

Molecular functions related to Cerebellar Ataxia Type 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.62 PLGLB2 PLGLB1

Sources for Cerebellar Ataxia Type 43

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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