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 57 53 75 29 13 6 73
Spinocerebellar Ataxia Type 31 12 53 59 15
Sca31 57 53 59 75
Spinocerebellar Ataxia 16q22-Linked 53 75
Pure Spinocerebellar Ataxia Japanese Type 75
Spinocerebellar Ataxia, 16q22-Linked 57
Ataxia, Spinocerebellar, Type 31 40
Sca4 Pure Japanese Type 75

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 31
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spinocerebellar ataxia 31:
Onset and clinical course late onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 117210
Disease Ontology 12 DOID:0050980
Orphanet 59 ORPHA217012
ICD10 via Orphanet 34 G11.8
UMLS via Orphanet 74 C1861736
MedGen 42 C1861736
MeSH 44 D020754
UMLS 73 C1861736

Summaries for Spinocerebellar Ataxia 31

NIH Rare Diseases : 53 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 spinocerebellar ataxia 6, 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 nystagmus and spasticity

UniProtKB/Swiss-Prot : 75 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, Autosomal Recessive 1
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 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 45)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.7 CACNA1A ATXN7 ATXN3
2 spinocerebellar ataxia 6 30.0 PDYN CACNA1A ATXN7 ATXN3
3 autosomal dominant cerebellar ataxia 29.8 PLEKHG4 PDYN CACNA1A ATXN7 ATXN3
4 mitochondrial dna depletion syndrome 7 11.5
5 ataxia and polyneuropathy, adult-onset 10.3
6 torticollis 10.2 TGM6 CACNA1A
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.2 SETX SACS
8 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.2 SETX CACNA1A
9 spinocerebellar ataxia 4 10.2 PLEKHG4 PDYN
10 primary cerebellar degeneration 10.2 CACNA1A ATXN3
11 creutzfeldt-jakob disease 10.1
12 neuromyelitis optica 10.1
13 dementia 10.1
14 blepharospasm 10.1
15 neuromyelitis optica spectrum disorder 10.1
16 paraplegia 10.1
17 friedreich ataxia 1 10.1 SETX CACNA1A ATXN3
18 spinocerebellar ataxia 17 10.1 CACNA1A ATXN7 ATXN3
19 spastic ataxia, charlevoix-saguenay type 10.0 SETX SACS
20 spinocerebellar ataxia 2 10.0 CACNA1A ATXN7 ATXN3
21 spinocerebellar ataxia 12 10.0 CACNA1A ATXN7 ATXN3
22 dentatorubral-pallidoluysian atrophy 10.0 CACNA1A ATXN7 ATXN3
23 machado-joseph disease 10.0 CACNA1A ATXN7 ATXN3
24 autosomal genetic disease 10.0 CACNA1A ATXN7 ATXN3
25 spinocerebellar ataxia 18 10.0 PLEKHG4 CACNA1A ATXN7 ATXN3
26 progressive muscular atrophy 10.0 TARDBP LMNB1
27 expressive language disorder 10.0 TARDBP FUS
28 amyotrophic lateral sclerosis 18 10.0 TARDBP FUS
29 amyotrophic lateral sclerosis type 14 9.9 TARDBP FUS
30 spinocerebellar ataxia 36 9.9 TARDBP PDYN
31 amyotrophic lateral sclerosis type 6 9.9 TARDBP SETX FUS
32 lateral sclerosis 9.9 TARDBP SETX FUS
33 amyotrophic lateral sclerosis 21 9.9 TARDBP SETX FUS
34 amyotrophic lateral sclerosis 11 9.9 TARDBP SETX FUS
35 nervous system disease 9.9 TARDBP CACNA1A ATXN3
36 amyotrophic lateral sclerosis 7 9.9 TARDBP SETX FUS
37 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.9 TARDBP SETX FUS
38 amyotrophic lateral sclerosis 9 9.9 TARDBP SETX FUS
39 hereditary ataxia 9.9 SETX PLEKHG4 CACNA1A ATXN7 ATXN3
40 frontotemporal dementia 9.9 TARDBP HNRNPA2B1 FUS
41 motor neuron disease 9.8 TARDBP SETX FUS
42 lethal congenital contracture syndrome 1 9.8 TARDBP FUS
43 amyotrophic lateral sclerosis 1 9.7 TARDBP SETX LMNB1 HNRNPA2B1 FUS
44 cerebellar disease 9.6 SETX SACS PLEKHG4 PDYN CACNA1A ATXN7
45 aceruloplasminemia 9.4 TGM6 SYNE1 SETX SACS PLEKHG4 PDYN

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



Diseases related to Spinocerebellar Ataxia 31

Symptoms & Phenotypes for Spinocerebellar Ataxia 31

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spinocerebellar Ataxia 31:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 gait ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002066
7 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
8 cerebellar atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001272
9 impaired vibratory sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002495
10 hyperactive deep tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0006801
11 ataxia 32 HP:0001251
12 hyperreflexia 59 Occasional (29-5%)
13 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
14 limb ataxia 32 HP:0002070
15 gaze-evoked horizontal nystagmus 32 frequent (33%) HP:0007979

UMLS symptoms related to Spinocerebellar Ataxia 31:


gait ataxia

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

26
# 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

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 31:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ATXN7 CACNA1A LMNB1 SRSF1 SYNE1 TARDBP

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 29 BEAN1

Anatomical Context for Spinocerebellar Ataxia 31

MalaCards organs/tissues related to Spinocerebellar Ataxia 31:

41
Eye, Cerebellum, Spinal Cord, Skin, Liver

Publications for Spinocerebellar Ataxia 31

Articles related to Spinocerebellar Ataxia 31:

# Title Authors Year
1
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
2
Neuromyelitis Optica Spectrum Disorder Coinciding with Spinocerebellar Ataxia Type 31. ( 28626410 )
2017
3
Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study. ( 27830516 )
2017
4
Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31. ( 28638142 )
2017
5
Autopsy case of spinocerebellar ataxia type 31 with severe dementia at the terminal stage. ( 25495291 )
2015
6
Voiding Dysfunction in Spinocerebellar Ataxia Type 31. ( 26663503 )
2014

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 9.85 ATXN3 ATXN7 FUS HNRNPA2B1 LMNB1 SETX
2 cytoplasm GO:0005737 9.8 ATXN3 ATXN7 CACNA1A FUS HNRNPA2B1 NEDD4
3 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 processing GO:0006397 9.71 HNRNPA2B1 SRSF1 SRSF9 TARDBP
2 RNA splicing GO:0008380 9.56 HNRNPA2B1 SRSF1 SRSF9 TARDBP
3 mRNA export from nucleus GO:0006406 9.5 HNRNPA2B1 SRSF1 SRSF9
4 mRNA cis splicing, via spliceosome GO:0045292 9.43 SRSF1 SRSF9
5 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.37 HNRNPA2B1 SRSF9
6 mRNA splicing, via spliceosome GO:0000398 9.26 FUS HNRNPA2B1 SRSF1 SRSF9
7 positive regulation of RNA splicing GO:0033120 9.16 SETX SRSF1
8 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 sequence-specific double-stranded DNA binding GO:1990837 8.96 LMNB1 TARDBP
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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