SCA31
MCID: SPN103
MIFTS: 40

Spinocerebellar Ataxia 31 (SCA31)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver 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 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 cerebellum, spinal cord and eye, and related phenotypes are sensorineural hearing impairment and ataxia

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 16
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 36)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 1 31.6 ATXN3 ATXN7 CACNA1A
2 autosomal dominant cerebellar ataxia 29.0 ATXN3 ATXN7 CACNA1A PDYN PLEKHG4
3 mitochondrial dna depletion syndrome 7 11.3
4 torticollis 10.6 CACNA1A TGM6
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.5 SACS SETX
6 spinocerebellar ataxia 4 10.5 PDYN PLEKHG4
7 friedreich ataxia 1 10.2 ATXN3 CACNA1A SETX
8 spinocerebellar ataxia 17 10.2 ATXN3 ATXN7 CACNA1A
9 spinocerebellar ataxia 2 10.2 ATXN3 ATXN7 CACNA1A
10 spastic ataxia, charlevoix-saguenay type 10.1 SACS SETX
11 spinocerebellar ataxia 12 10.1 ATXN3 ATXN7 CACNA1A
12 dentatorubral-pallidoluysian atrophy 10.1 ATXN3 ATXN7 CACNA1A
13 machado-joseph disease 10.1 ATXN3 ATXN7 CACNA1A
14 spinocerebellar ataxia 18 10.0 ATXN3 ATXN7 CACNA1A PLEKHG4
15 spasticity 9.9
16 progressive muscular atrophy 9.9 LMNB1 TARDBP
17 expressive language disorder 9.9 FUS TARDBP
18 amyotrophic lateral sclerosis 18 9.8 FUS TARDBP
19 amyotrophic lateral sclerosis type 14 9.8 FUS TARDBP
20 amyotrophic lateral sclerosis type 6 9.7 FUS SETX TARDBP
21 amyotrophic lateral sclerosis 21 9.7 FUS SETX TARDBP
22 lethal congenital contracture syndrome 1 9.7 FUS TARDBP
23 amyotrophic lateral sclerosis 11 9.7 FUS SETX TARDBP
24 amyotrophic lateral sclerosis 7 9.7 FUS SETX TARDBP
25 amyotrophic lateral sclerosis 9 9.7 FUS SETX TARDBP
26 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.7 FUS SETX TARDBP
27 spinocerebellar ataxia 6 9.7 ATXN3 ATXN7 CACNA1A PDYN
28 hereditary ataxia 9.7 ATXN3 ATXN7 CACNA1A PLEKHG4 SETX
29 trehalase deficiency 9.4 CACNA1A FUS SACS SETX TGM5
30 spinocerebellar ataxia 36 9.3 PDYN TARDBP
31 central nervous system disease 9.3 ATXN3 CACNA1A FUS TARDBP
32 motor neuron disease 9.3 FUS SETX TARDBP
33 nervous system disease 9.3 ATXN3 CACNA1A FUS TARDBP
34 amyotrophic lateral sclerosis 1 8.8 FUS HNRNPA2B1 LMNB1 SETX TARDBP
35 cerebellar disease 8.8 ATXN3 ATXN7 CACNA1A PDYN PLEKHG4 SACS
36 aceruloplasminemia 8.1 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

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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
2 ataxia 32 HP:0001251
3 dysarthria 32 HP:0001260
4 cerebellar atrophy 32 HP:0001272
5 gait ataxia 32 HP:0002066
6 limb ataxia 32 HP:0002070
7 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
Cerebellum, Spinal Cord, Eye

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

Variations for Spinocerebellar Ataxia 31

ClinVar genetic disease variations for Spinocerebellar Ataxia 31:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 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 cytoplasm GO:0005737 9.97 ATXN3 ATXN7 CACNA1A FUS HNRNPA2B1 NEDD4
2 nucleoplasm GO:0005654 9.65 ATXN3 ATXN7 FUS HNRNPA2B1 LMNB1 SETX
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 9.73 HNRNPA2B1 SRSF1 SRSF9 TARDBP
2 RNA splicing GO:0008380 9.62 HNRNPA2B1 SRSF1 SRSF9 TARDBP
3 mRNA export from nucleus GO:0006406 9.54 HNRNPA2B1 SRSF1 SRSF9
4 nucleus organization GO:0006997 9.46 ATXN7 SYNE1
5 mRNA splicing, via spliceosome GO:0000398 9.46 FUS HNRNPA2B1 SRSF1 SRSF9
6 negative regulation of mRNA splicing, via spliceosome GO:0048025 9.4 HNRNPA2B1 SRSF9
7 positive regulation of RNA splicing GO:0033120 9.26 SETX SRSF1
8 termination of RNA polymerase II transcription GO:0006369 9.13 SETX SRSF1 SRSF9
9 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 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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