SCA10
MCID: SPN314
MIFTS: 47

Spinocerebellar Ataxia 10 (SCA10)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 10

MalaCards integrated aliases for Spinocerebellar Ataxia 10:

Name: Spinocerebellar Ataxia 10 57 20 72 13 70
Spinocerebellar Ataxia Type 10 12 25 20 58 29 6 15
Sca10 57 25 20 58 72
Ataxia, Spinocerebellar, Type 10 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 10
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
genetic anticipation
reduced penetrance
age at onset 14 to 44 years
patients of brazilian origin have a pure cerebellar atrophy
patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features
normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 10:
Inheritance autosomal dominant inheritance genetic anticipation
Onset and clinical course incomplete penetrance


GeneReviews:

25
Penetrance Penetrance is usually complete. however, apparent reduced penetrance has been reported [alonso et al 2006, matsuura et al 2006, raskin et al 2007].

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 10

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98761 Definition Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances. Epidemiology Prevalence is unknown. Many kindreds have been found in Mexican and Brazilian populations. SCA10 is the second most common inherited ataxia in these two countries. Clinical description Age of onset ranges from 18 to 45 years (mean age = 32.2 years). The most common type of epilepsy is generalized motor seizures, but partial motor or partial complex seizures can occur. Etiology SCA10 is caused by an ATTCT pentanucleotide repeat expansion in intron 9 of the ATXN10 gene (22q13). Exact pathogenesis has not been determined but RNA processing may be involved. Prognosis Prognosis is poor, especially for patients with refractory epilepsy. Exact disease duration is unknown. However, the mean disease duration can be estimated to be about 13 years.

MalaCards based summary : Spinocerebellar Ataxia 10, also known as spinocerebellar ataxia type 10, is related to fragile x syndrome and spinocerebellar ataxia 37, and has symptoms including seizures, abnormality of extrapyramidal motor function and dysdiadochokinesis. An important gene associated with Spinocerebellar Ataxia 10 is ATXN10 (Ataxin 10), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include eye, liver and cerebellum, and related phenotypes are dysarthria and gait ataxia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has material basis in mutation in the ATXN10 gene.

OMIM® : 57 The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (603516) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 10: Spinocerebellar ataxia is 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. SCA10 is an autosomal dominant cerebellar ataxia (ADCA).

GeneReviews: NBK1175

Related Diseases for Spinocerebellar Ataxia 10

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, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 fragile x syndrome 30.1 HNRNPK FMR1 C9orf72 ATXN10
2 spinocerebellar ataxia 37 30.1 NOP56 DAB1 ATXN8OS ATXN10
3 machado-joseph disease 30.0 PPP2R2B ATXN8OS ATXN7 ATXN3 ATXN2 ATXN10
4 spinocerebellar ataxia 36 29.9 NOP56 DAB1 C9orf72 ATXN8OS ATXN2 ATXN10
5 restless legs syndrome 29.9 FMR1 C9orf72 ATXN7 ATXN3 ATXN2
6 friedreich ataxia 29.8 PPP2R2B FMR1 ATXN8OS ATXN3 ATXN2 ATXN10
7 movement disease 29.8 FMR1 C9orf72 ATXN3 ATXN2
8 spinocerebellar ataxia 1 29.6 PPP2R2B FMR1 ATXN8OS ATXN7 ATXN3 ATXN2
9 spinocerebellar ataxia 8 29.4 PPP2R2B NOP56 JPH3 FMR1 CNBP C9orf72
10 dystonia 29.4 JPH3 C9orf72 ATXN7 ATXN3 ATN1
11 huntington disease 29.4 JPH3 FMR1 C9orf72 ATXN7 ATXN3 ATN1
12 choreatic disease 29.4 JPH3 C9orf72 ATXN7 ATXN3 ATXN2 ATN1
13 hereditary ataxia 29.3 PPP2R2B NOP56 ATXN8OS ATXN7 ATXN3 ATXN2
14 fragile x-associated tremor/ataxia syndrome 28.9 PPP2R2B NOP56 JPH3 FMR1 CNBP C9orf72
15 autosomal dominant cerebellar ataxia 28.9 PPP2R2B NOP56 JPH3 FMR1 DAB1 CNBP
16 dentatorubral-pallidoluysian atrophy 28.6 PPP2R2B NOP56 JPH3 FMR1 DAB1 CNBP
17 spinocerebellar ataxia, autosomal recessive 10 11.6
18 dysphagia 10.3
19 ataxia and polyneuropathy, adult-onset 10.3
20 epilepsy, familial adult myoclonic, 2 10.3 DAB1 ATXN8OS
21 spinocerebellar degeneration 10.3 ATXN3 ATXN2
22 tactile agnosia 10.2 PPP2R2B ATXN7
23 holoprosencephaly 5 10.2 JPH3 ATXN8OS
24 echolalia 10.2 FMR1 C9orf72
25 spinocerebellar ataxia 31 10.1 NOP56 DAB1 C9orf72 ATXN10
26 cerebellar ataxia type 9 10.1 PPP2R2B DAB1 ATXN7 ATXN10
27 spinocerebellar ataxia 30 10.1 PPP2R2B NOP56 ATXN7 ATXN10
28 familial adult myoclonic epilepsy 10.1 DAB1 C9orf72 ATXN8OS ATXN10
29 huntington disease-like 1 10.1 JPH3 ATN1
30 mutism 10.1 FMR1 C9orf72
31 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.1 NOP56 C9orf72 ATXN2 ATXN10
32 spinocerebellar ataxia 7 10.1 ATXN8OS ATXN7 ATXN3 ATXN2
33 cerebral degeneration 10.1
34 status epilepticus 10.1
35 epilepsy 10.1
36 mood disorder 10.1
37 sleep disorder 10.1
38 peripheral nervous system disease 10.1
39 neuropathy 10.1
40 rem sleep behavior disorder 10.1
41 48,xyyy 10.1
42 chronic pain 10.1
43 seizure disorder 10.1
44 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.0 FMR1 ATXN7 ATXN3 ATXN2
45 fuchs' endothelial dystrophy 10.0 NOP56 DAB1 C9orf72 ATXN8OS ATXN10
46 progressive muscular atrophy 10.0 C9orf72 ATXN2
47 fragile x tremor/ataxia syndrome 10.0
48 cerebellar degeneration 10.0
49 schizophrenia 10.0
50 paranoid schizophrenia 10.0

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 10:



Diseases related to Spinocerebellar Ataxia 10

Symptoms & Phenotypes for Spinocerebellar Ataxia 10

Human phenotypes related to Spinocerebellar Ataxia 10:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
3 progressive cerebellar ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002073
4 dyskinesia 58 31 frequent (33%) Frequent (79-30%) HP:0100660
5 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
6 gait imbalance 58 31 frequent (33%) Frequent (79-30%) HP:0002141
7 dysdiadochokinesis 58 31 frequent (33%) Frequent (79-30%) HP:0002075
8 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
9 scanning speech 58 31 frequent (33%) Frequent (79-30%) HP:0002168
10 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
11 generalized-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002197
12 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
13 impaired smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0007772
14 gaze-evoked nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000640
15 eeg with generalized epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0011198
16 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
17 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
18 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
19 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
20 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
21 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
22 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
23 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
24 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
25 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
26 lower limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002061
27 urinary urgency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000012
28 focal motor seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0011153
29 nystagmus 58 31 Frequent (79-30%) HP:0000639
30 abnormal pyramidal sign 31 HP:0007256
31 dysphagia 31 HP:0002015
32 decreased nerve conduction velocity 31 HP:0000762
33 abnormality of extrapyramidal motor function 31 HP:0002071
34 dementia 31 HP:0000726
35 urinary incontinence 31 HP:0000020
36 limb ataxia 31 HP:0002070
37 incoordination 31 HP:0002311
38 kinetic tremor 58 Frequent (79-30%)
39 morphological abnormality of the pyramidal tract 31 HP:0002062
40 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
dysarthria
cognitive impairment
dysmetria
more
Abdomen Gastrointestinal:
dysphagia

Neurologic Behavioral Psychiatric Manifestations:
depression

Head And Neck Eyes:
nystagmus
ocular movement abnormalities

Genitourinary Bladder:
urinary incontinence
urinary urgency

Neurologic Peripheral Nervous System:
nerve conduction abnormalities

Clinical features from OMIM®:

603516 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia 10:


seizures; abnormality of extrapyramidal motor function; dysdiadochokinesis; gait ataxia; scanning speech; urgency of micturition; abnormal pyramidal signs

Drugs & Therapeutics for Spinocerebellar Ataxia 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10) Completed NCT00004306
2 Genetic Mechanism of Conserved Ancestral Haplotype in SCA10 Recruiting NCT04495426

Search NIH Clinical Center for Spinocerebellar Ataxia 10

Genetic Tests for Spinocerebellar Ataxia 10

Genetic tests related to Spinocerebellar Ataxia 10:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 10 29 ATXN10

Anatomical Context for Spinocerebellar Ataxia 10

MalaCards organs/tissues related to Spinocerebellar Ataxia 10:

40
Eye, Liver, Cerebellum, Spinal Cord, Skeletal Muscle, Endothelial, Brain

Publications for Spinocerebellar Ataxia 10

Articles related to Spinocerebellar Ataxia 10:

(show top 50) (show all 109)
# Title Authors PMID Year
1
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. 57 61 25
23443018 2013
2
Ethnic origin and extrapyramidal signs in an Argentinean spinocerebellar ataxia type 10 family. 61 57 25
17620556 2007
3
Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10. 25 61 57
17420323 2007
4
Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10. 57 25 61
16717236 2006
5
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? 61 25 57
16385455 2006
6
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. 61 25 57
15505178 2004
7
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. 61 25 57
15127363 2004
8
Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10. 61 25 57
12164725 2002
9
Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. 25 57 61
11506407 2001
10
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. 61 25 57
11017075 2000
11
Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. 25 57
10072060 1999
12
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. 57 25
9973298 1999
13
Spinocerebellar ataxia type 10 in the French population. 61 57
11891842 2002
14
Spinocerebellar ataxia type 10 is rare in populations other than Mexicans. 57 61
11914424 2002
15
Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families. 25 61
31377949 2019
16
Sleep disorders in spinocerebellar ataxia type 10. 61 25
29624773 2018
17
Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10. 25 61
28589261 2017
18
Parkinson's disease associated with pure ATXN10 repeat expansion. 25 61
28890930 2017
19
First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China. 25 61
28542277 2017
20
Spinocerebellar ataxia type 10 in Chinese Han. 25 61
27066563 2015
21
Spinocerebellar ataxia-10 with paranoid schizophrenia. 25 61
25745322 2015
22
SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure. 25 61
26295943 2015
23
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. 25 61
24318420 2014
24
Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids. 25 61
23338165 2013
25
Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. 25 61
24278426 2013
26
New-onset psychosis in a patient with spinocerebellar ataxia type 10. 61 25
22193677 2011
27
Spinocerebellar ataxia type 10 - A review. 25 61
21531163 2011
28
Spinocerebellar ataxia type 10: disproportionate cerebellar symptoms among at-risk subjects induced by small amounts of alcohol. 25 61
22042193 2011
29
Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium. 61 25
21236683 2011
30
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. 61 25
20548952 2010
31
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. 61 25
19936807 2010
32
Long-range PCR for the diagnosis of spinocerebellar ataxia type 10. 25 61
18197441 2008
33
The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. 25 61
16924013 2006
34
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings. 57
16879203 2006
35
Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. 25 61
16498633 2006
36
Ataxin-10 interacts with O-GlcNAc transferase OGT in pancreatic beta cells. 61 25
16182253 2005
37
Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. 61 25
15201271 2004
38
Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. 25 61
11835387 2002
39
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. 57
9818872 1998
40
Clinical features and classification of inherited ataxias. 57
8421960 1993
41
New pathologic mechanisms in nucleotide repeat expansion disorders. 25
31229686 2019
42
Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families. 25
31323545 2019
43
Estimation of skeletal muscle mass in patients with spinocerebellar ataxia type 3 and 10. 25
30526208 2019
44
Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease. 25
30909783 2019
45
RNA toxicity and foci formation in microsatellite expansion diseases. 25
28208060 2017
46
Central auditory processing in patients with spinocerebellar ataxia. 25
26183435 2015
47
Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia. 25
25466696 2014
48
Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes. 25
23943520 2014
49
[Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population]. 25
20931525 2010
50
Long-term effects of coordinative training in degenerative cerebellar disease. 25
20737551 2010

Variations for Spinocerebellar Ataxia 10

ClinVar genetic disease variations for Spinocerebellar Ataxia 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATXN10 , LOC107181287 and overlap with 1 gene(s) NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280] Microsatellite Pathogenic 39007 GRCh37: 22:46191234-46191235
GRCh38: 22:45795354-45795355
2 ATXN10 , LOC107181287 and overlap with 1 gene(s) NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850] Microsatellite Pathogenic 39006 GRCh37: 22:46191234-46191235
GRCh38: 22:45795354-45795355
3 LOC108660404 , ATXN10 , LOC107181287 NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500) Microsatellite Pathogenic 39005 GRCh37: 22:46191240-46191244
GRCh38: 22:45795360-45795364
4 LOC108660404 , ATXN10 , LOC107181287 NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760) Microsatellite Pathogenic 39004 GRCh37: 22:46191240-46191244
GRCh38: 22:45795360-45795364
5 LOC108660404 , ATXN10 , LOC107181287 NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370) Microsatellite Pathogenic 39003 GRCh37: 22:46191240-46191244
GRCh38: 22:45795360-45795364
6 ATXN10 NM_013236.4(ATXN10):c.13A>G (p.Arg5Gly) SNV Uncertain significance 930239 GRCh37: 22:46067956-46067956
GRCh38: 22:45672076-45672076
7 ATXN10 NM_013236.4(ATXN10):c.116+4A>T SNV Uncertain significance 930719 GRCh37: 22:46068063-46068063
GRCh38: 22:45672183-45672183
8 LOC108660404 , ATXN10 , LOC107181287 NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(10_32) Microsatellite Benign 999 GRCh37: 22:46191240-46191244
GRCh38: 22:45795360-45795364

Expression for Spinocerebellar Ataxia 10

Search GEO for disease gene expression data for Spinocerebellar Ataxia 10.

Pathways for Spinocerebellar Ataxia 10

Pathways related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.26 NOP56 DAB1 ATXN8OS ATXN3 ATXN2 ATXN10

GO Terms for Spinocerebellar Ataxia 10

Cellular components related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.1 PRKCD PPP2R2B NOP56 HNRNPK FMR1 DTD1
2 perinuclear region of cytoplasm GO:0048471 9.63 PRKCD FMR1 DAB1 ATXN2 ATXN10 ATN1
3 nuclear matrix GO:0016363 9.26 PRKCD ATXN7 ATXN3 ATN1
4 cytoplasmic stress granule GO:0010494 8.92 HNRNPK FMR1 C9orf72 ATXN2

Biological processes related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress granule assembly GO:0034063 9.16 C9orf72 ATXN2
2 positive regulation of response to DNA damage stimulus GO:2001022 8.96 PRKCD FMR1
3 exploration behavior GO:0035640 8.62 JPH3 ATXN3

Molecular functions related to Spinocerebellar Ataxia 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation regulator activity GO:0045182 8.62 FMR1 CNBP

Sources for Spinocerebellar Ataxia 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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