SCA31
MCID: SPN103
MIFTS: 44

Spinocerebellar Ataxia 31 (SCA31)

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 31

MalaCards integrated aliases for Spinocerebellar Ataxia 31:

Name: Spinocerebellar Ataxia 31 58 54 76 30 13 6 74
Spinocerebellar Ataxia Type 31 12 54 60 15
Sca31 58 54 60 76
Spinocerebellar Ataxia 16q22-Linked 54 76
Pure Spinocerebellar Ataxia Japanese Type 76
Spinocerebellar Ataxia, 16q22-Linked 58
Ataxia, Spinocerebellar, Type 31 41
Sca4 Pure Japanese Type 76

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 31
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
late adult onset (after age 55 years)
earlier onset is rare


HPO:

33
spinocerebellar ataxia 31:
Onset and clinical course late onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050980
OMIM 58 117210
MeSH 45 D020754
ICD10 via Orphanet 35 G11.8
UMLS via Orphanet 75 C1861736
Orphanet 60 ORPHA217012
MedGen 43 C1861736
UMLS 74 C1861736

Summaries for Spinocerebellar Ataxia 31

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 217012Disease definitionSpinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.EpidemiologySCA31 is the third most common form of ADCA (see this term) in Japan, where more than 20 families have been reported to date. It is rarely found in other Asian countries and is extremely rare in Western countries.Clinical descriptionThe mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. Ataxia, dysarthria, and horizontal gaze nystagmus are the common manifestations of SCA31 and the disease duration can be more than 10 years. Less common manifestations include pyramidal signs, tremor, decreased vibration sense, and hearing difficulties.EtiologySCA31 is due to non-coding pentanucleotide repeat expansions in the BEAN1 gene (16q21), encoding protein BEAN1.Genetic counselingSCA31 is inherited autosomal dominantly with incomplete penetrance and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 31, also known as spinocerebellar ataxia type 31, is related to spinocerebellar ataxia 1 and autosomal dominant cerebellar ataxia, and has symptoms including gait ataxia An important gene associated with Spinocerebellar Ataxia 31 is BEAN1 (Brain Expressed Associated With NEDD4 1). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and gait ataxia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has material basis in repeat expansion mutation in the BEAN1 gene.

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 31: 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. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs.

Description from OMIM: 117210

Related Diseases for Spinocerebellar Ataxia 31

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

Diseases related to Spinocerebellar Ataxia 31 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.8 ATXN3 ATXN7 CACNA1A
2 autosomal dominant cerebellar ataxia 30.0 ATXN3 ATXN7 CACNA1A PLEKHG4
3 spinocerebellar ataxia 6 29.8 ATXN3 ATXN7 CACNA1A PDYN
4 mitochondrial dna depletion syndrome 7 11.5
5 torticollis 10.3 CACNA1A TGM6
6 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.3 CACNA1A SETX
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.2 SACS SETX
8 spinocerebellar ataxia 4 10.2 PDYN PLEKHG4
9 primary cerebellar degeneration 10.2 ATXN3 CACNA1A
10 spastic ataxia, charlevoix-saguenay type 10.2 SACS SETX
11 creutzfeldt-jakob disease 10.1
12 neuromyelitis optica 10.1
13 dementia 10.1
14 blepharospasm 10.1
15 rem sleep behavior disorder 10.1
16 pathologic nystagmus 10.1
17 neuromyelitis optica spectrum disorder 10.1
18 amyotrophic lateral sclerosis type 6 10.1 FUS SETX
19 ataxia and polyneuropathy, adult-onset 10.1
20 paraplegia 10.1
21 friedreich ataxia 1 10.1 ATXN3 CACNA1A SETX
22 vitamin e, familial isolated deficiency of 10.0 SACS SETX
23 spinocerebellar ataxia 17 10.0 ATXN3 ATXN7 CACNA1A
24 spinocerebellar ataxia 2 10.0 ATXN3 ATXN7 CACNA1A
25 spinocerebellar ataxia 12 10.0 ATXN3 ATXN7 CACNA1A
26 dentatorubral-pallidoluysian atrophy 10.0 ATXN3 ATXN7 CACNA1A
27 machado-joseph disease 10.0 ATXN3 ATXN7 CACNA1A
28 autosomal genetic disease 10.0 ATXN3 ATXN7 CACNA1A
29 amyotrophic lateral sclerosis 21 10.0 FUS SETX
30 amyotrophic lateral sclerosis 11 10.0 FUS SETX
31 amyotrophic lateral sclerosis 7 9.9 FUS SETX
32 spinocerebellar ataxia 18 9.9 ATXN3 ATXN7 CACNA1A PLEKHG4
33 hereditary ataxia 9.8 ATXN3 ATXN7 CACNA1A PLEKHG4 SETX
34 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.8 FUS SETX
35 amyotrophic lateral sclerosis 1 9.6 FUS HNRNPA2B1 LMNB1 SETX
36 cerebellar disease 9.3 ATXN3 ATXN7 CACNA1A PDYN PLEKHG4 SACS
37 aceruloplasminemia 8.9 ATXN3 ATXN7 CACNA1A PDYN PLEKHG4 SACS

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 31:



Diseases related to Spinocerebellar Ataxia 31

Symptoms & Phenotypes for Spinocerebellar Ataxia 31

Human phenotypes related to Spinocerebellar Ataxia 31:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002066
3 cerebellar atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001272
4 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
5 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
6 gaze-evoked horizontal nystagmus 33 frequent (33%) HP:0007979
7 spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001257
8 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
9 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
10 hyperactive deep tendon reflexes 60 33 occasional (7.5%) Occasional (29-5%) HP:0006801
11 impaired vibratory sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002495
12 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407
13 ataxia 33 HP:0001251
14 hyperreflexia 60 Occasional (29-5%)
15 limb ataxia 33 HP:0002070

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
nystagmus
dysarthria
gait ataxia
limb ataxia
cerebellar atrophy
more
Head And Neck Eyes:
gaze-evoked horizontal nystagmus (not always present)

Head And Neck Ears:
hearing loss, late-onset sensorineural, mild-to moderate (less common)

Clinical features from OMIM:

117210

UMLS symptoms related to Spinocerebellar Ataxia 31:


gait ataxia

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.02 ATXN3 HNRNPA2B1 SACS SETX
2 Decreased homologous recombination repair frequency GR00151-A-2 9.02 ATXN3

Drugs & Therapeutics for Spinocerebellar Ataxia 31

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 31

Genetic Tests for Spinocerebellar Ataxia 31

Genetic tests related to Spinocerebellar Ataxia 31:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 31 30 BEAN1

Anatomical Context for Spinocerebellar Ataxia 31

MalaCards organs/tissues related to Spinocerebellar Ataxia 31:

42
Eye, Cerebellum, Spinal Cord, Testes, Skin, Liver

Publications for Spinocerebellar Ataxia 31

Articles related to Spinocerebellar Ataxia 31:

(show all 14)
# Title Authors Year
1
Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31. ( 28343865 )
2017
2
SCA31 Flies Perform in a Balancing Act between RAN Translation and RNA-Binding Proteins. ( 28384473 )
2017
3
Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. ( 28017198 )
2017
4
When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan? ( 26033715 )
2015
5
SCA31 is rare in the Chinese population on Taiwan. ( 21163552 )
2012
6
Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic. ( 21267591 )
2011
7
Comparisons of acoustic function in SCA31 and other forms of ataxias. ( 21535943 )
2011
8
Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. ( 22049201 )
2011
9
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
10
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. ( 19878914 )
2009
11
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. ( 17611710 )
2007
12
16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. ( 16780885 )
2006
13
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. ( 16614795 )
2006
14
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. ( 16001362 )
2005

Variations for Spinocerebellar Ataxia 31

ClinVar genetic disease variations for Spinocerebellar Ataxia 31:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEKHG4 NM_001129727.2(PLEKHG4): c.-16C> T single nucleotide variant Uncertain significance rs886041026 GRCh38 Chromosome 16, 67280029: 67280029
2 PLEKHG4 NM_001129727.2(PLEKHG4): c.-16C> T single nucleotide variant Uncertain significance rs886041026 GRCh37 Chromosome 16, 67313932: 67313932
3 BEAN1 BEAN, 2.5- TO 3.8-KB INS insertion Pathogenic

Expression for Spinocerebellar Ataxia 31

Search GEO for disease gene expression data for Spinocerebellar Ataxia 31.

Pathways for Spinocerebellar Ataxia 31

GO Terms for Spinocerebellar Ataxia 31

Cellular components related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.81 ATXN3 ATXN7 FUS HNRNPA2B1 LMNB1 SETX
2 cytoplasm GO:0005737 9.73 ATXN3 CACNA1A FUS HNRNPA2B1 NEDD4 SACS
3 dendrite GO:0030425 9.56 CACNA1A FUS PDYN SACS
4 nuclear matrix GO:0016363 8.92 ATXN3 ATXN7 HNRNPA2B1 LMNB1

Biological processes related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA export from nucleus GO:0006406 9.43 HNRNPA2B1 SRSF1 SRSF9
2 nucleus organization GO:0006997 9.4 ATXN7 SYNE1
3 mRNA cis splicing, via spliceosome GO:0045292 9.37 SRSF1 SRSF9
4 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.32 HNRNPA2B1 SRSF9
5 mRNA splicing, via spliceosome GO:0000398 9.26 FUS HNRNPA2B1 SRSF1 SRSF9
6 positive regulation of RNA splicing GO:0033120 8.85 SETX
7 mRNA splice site selection GO:0006376 8.8 SETX SRSF1 SRSF9

Molecular functions related to Spinocerebellar Ataxia 31 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor binding GO:0035255 8.96 FUS NEDD4
2 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.62 TGM5 TGM6

Sources for Spinocerebellar Ataxia 31

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
36 ICD9CM
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
Content
Loading form....