SCA17
MCID: SPN296
MIFTS: 48

Spinocerebellar Ataxia 17 (SCA17)

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 17

MalaCards integrated aliases for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 57 20 72 13 70
Spinocerebellar Ataxia Type 17 12 25 20 58 29 6 15
Sca17 57 25 58 72 54
Huntington Disease-Like 4 57 25 58 72
Hdl4 57 58 72
Cerebelloparenchymal Disorder Ii 57 70
Olivopontocerebellar Atrophy V 57 70
Cerebelloparenchymal Disorder Ii; Cpd2 57
Olivopontocerebellar Atrophy V; Opca5 57
Ataxia, Spinocerebellar, Type 17 39
Huntington Disease-Like 4; Hdl4 57
Sca 17 20
Opca5 57
Cpd2 57

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Japan),1-9/1000000 (United Kingdom); Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
median age at onset 23 years
psychiatric symptoms may be the presenting sign
normal alleles have 25 to 44 repeats
mutant alleles have 47 to 63 repeats
those with intermediate repeat expansions show reduced penetrance


HPO:

31
spinocerebellar ataxia 17:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course progressive


GeneReviews:

25
Penetrance The penetrance of alleles of 41-44 repeats is estimated at 50% and the penetrance of alleles of 45-48 repeats is estimated at greater than 80% [toyoshima et al 2004]....

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 17

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98759 Definition Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. Epidemiology Worldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date. Clinical description Clinical features overlap with many neurodegenerative syndromes and specifically, Huntington disease (see this term). Etiology SCA17 is caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.

MalaCards based summary : Spinocerebellar Ataxia 17, also known as spinocerebellar ataxia type 17, is related to huntington disease and movement disease, and has symptoms including seizures, myoclonus and gait ataxia. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA-Box Binding Protein), and among its related pathways/superpathways are Akt Signaling and Chks in Checkpoint Regulation. Affiliated tissues include eye, liver and cerebellum, and related phenotypes are ataxia and gait disturbance

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has material basis in CAG repeat expansion in the TBP gene.

OMIM® : 57 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; 143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)). For a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (164400). (607136) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 17: 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. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

GeneReviews: NBK1438

Related Diseases for Spinocerebellar Ataxia 17

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 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 huntington disease 29.5 VPS13A TBP JPH3 HAP1 ATXN7 ATXN3
2 movement disease 29.0 VPS13A TBP SLC6A3 CACNA1A ATXN3 ATXN2
3 dementia 29.0 SLC6A3 JPH3 CACNA1A ATXN3 ATXN2 ATXN1
4 dystonia 28.8 VPS13A TBP SLC6A3 JPH3 CACNA1A ATXN7
5 parkinson disease, late-onset 28.4 TBP SLC6A3 PPP2R2B LOC108663996 CACNA1A ATXN8OS
6 friedreich ataxia 28.4 TBP PPP2R2B CACNA1A ATXN8OS ATXN3 ATXN2
7 choreatic disease 28.4 VPS13A TBP SLC6A3 JPH3 CACNA1A ATXN7
8 autosomal dominant cerebellar ataxia 28.1 TBP PPP2R2B LOC108663996 JPH3 FGF14 CACNA1A
9 machado-joseph disease 28.1 TBP SLC6A3 PPP2R2B CACNA1A ATXN8OS ATXN7
10 dentatorubral-pallidoluysian atrophy 28.0 TBP PPP2R2B JPH3 FGF14 CACNA1A ATXN8OS
11 hereditary ataxia 27.6 TBP PPP2R2B FGF14 CWF19L1 CACNA1A ATXN8OS
12 spinocerebellar ataxia, autosomal recessive 17 11.5
13 huntington disease-like syndrome 11.4
14 ataxia and polyneuropathy, adult-onset 10.6
15 tactile agnosia 10.2 PPP2R2B ATXN7
16 anxiety 10.2
17 chorea, childhood-onset, with psychomotor retardation 10.1
18 episodic ataxia, type 6 10.1 CACNA1A ATXN7
19 cerebellar ataxia type 9 10.1 PPP2R2B FGF14 ATXN7
20 epilepsy 10.1
21 neuroblastoma 10.1
22 47,xyy 10.1
23 autosomal recessive cerebellar ataxia 10.0 CWF19L1 CACNA1A ATXN7
24 choreoacanthocytosis 10.0 VPS13A TBP JPH3
25 spinocerebellar degeneration 10.0 ATXN3 ATXN2 ATXN1
26 epilepsy, familial adult myoclonic, 5 10.0 SLC6A3 CACNA1A
27 alzheimer disease 10.0
28 creutzfeldt-jakob disease 10.0
29 schizophrenia 10.0
30 focal dystonia 10.0
31 parkinsonism 10.0
32 cerebral degeneration 10.0
33 cerebral atrophy 10.0
34 dysphagia 10.0
35 spasticity 10.0
36 pathologic nystagmus 10.0
37 cerebellar degeneration 10.0
38 episodic ataxia, type 2 10.0 CACNA1A ATXN7 ATXN1
39 dystonia 12 10.0 CACNA1A ATXN1 ATN1
40 leukodystrophy, hypomyelinating, 2 9.9 VPS13A JPH3
41 spinocerebellar ataxia, autosomal recessive 4 9.9 VPS13A CACNA1A
42 huntington disease-like 1 9.9 VPS13A TBP JPH3 ATN1
43 neurodegeneration with brain iron accumulation 1 9.9 VPS13A JPH3
44 axonal neuropathy 9.9
45 spastic paraplegia 25, autosomal recessive 9.9 FGF14 ATXN8OS
46 neuronal intranuclear inclusion disease 9.9 ATXN3 ATXN1 ABT1
47 spastic paraplegia 34, x-linked 9.9 FGF14 ATXN8OS
48 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.9 CACNA1A ATXN7 ATXN3 ATXN2
49 holoprosencephaly 5 9.8 JPH3 ATXN8OS
50 spinocerebellar ataxia, autosomal recessive 8 9.8 CACNA1A ATXN7

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 17:



Diseases related to Spinocerebellar Ataxia 17

Symptoms & Phenotypes for Spinocerebellar Ataxia 17

Human phenotypes related to Spinocerebellar Ataxia 17:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
4 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
5 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
6 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
7 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
8 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
9 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
10 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
11 generalized cerebral atrophy/hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007058
12 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
13 writer's cramp 58 31 frequent (33%) Frequent (79-30%) HP:0002356
14 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
15 neuronal loss in central nervous system 58 31 frequent (33%) Frequent (79-30%) HP:0002529
16 cerebellar purkinje layer atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012082
17 seizure 31 occasional (7.5%) HP:0001250
18 dystonia 58 31 Frequent (79-30%) HP:0001332
19 cerebellar atrophy 58 31 Frequent (79-30%) HP:0001272
20 depressivity 31 HP:0000716
21 dysarthria 31 HP:0001260
22 dysphagia 31 HP:0002015
23 hallucinations 31 HP:0000738
24 myoclonus 31 HP:0001336
25 dysmetria 31 HP:0001310
26 involuntary movements 58 Frequent (79-30%)
27 gait ataxia 31 HP:0002066
28 broad-based gait 31 HP:0002136
29 positive romberg sign 31 HP:0002403
30 aggressive behavior 31 HP:0000718
31 unsteady gait 31 HP:0002317
32 confusion 31 HP:0001289
33 intention tremor 31 HP:0002080
34 urinary incontinence 31 HP:0000020
35 frontal lobe dementia 31 HP:0000727
36 mutism 31 HP:0002300
37 limb ataxia 31 HP:0002070
38 paranoia 31 HP:0011999
39 apraxia 31 HP:0002186
40 bradykinesia 31 HP:0002067
41 diffuse cerebral atrophy 31 HP:0002506
42 gliosis 31 HP:0002171
43 lack of insight 31 HP:0000757
44 gaze-evoked nystagmus 31 HP:0000640
45 frontal release signs 31 HP:0000743
46 impaired pursuit initiation and maintenance 31 HP:0007668

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dysarthria
dysphagia
chorea
myoclonus
more
Head And Neck Eyes:
impaired pursuit initiation and maintenance
gaze-evoked nystagmus (33%)
increased error rates of antisaccades (50%)
increased error rates of memory-guided saccades (40%)

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
frontal lobe dementia
mutism
paranoia
lack of insight
more
Genitourinary Bladder:
urinary incontinence (in late stages)

Clinical features from OMIM®:

607136 (Updated 20-May-2021)

UMLS symptoms related to Spinocerebellar Ataxia 17:


seizures; myoclonus; gait ataxia; bradykinesia; action tremor; cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A
2 nervous system MP:0003631 9.4 ATN1 ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A

Drugs & Therapeutics for Spinocerebellar Ataxia 17

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 17

Genetic Tests for Spinocerebellar Ataxia 17

Genetic tests related to Spinocerebellar Ataxia 17:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 17 29 TBP

Anatomical Context for Spinocerebellar Ataxia 17

MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

40
Eye, Liver, Cerebellum, Spinal Cord, Brain

Publications for Spinocerebellar Ataxia 17

Articles related to Spinocerebellar Ataxia 17:

(show top 50) (show all 151)
# Title Authors PMID Year
1
Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. 6 54 57 25 61
15521976 2004
2
SCA17 homozygote showing Huntington's disease-like phenotype. 61 25 57 6
14755733 2004
3
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. 54 25 57 6
12805114 2003
4
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. 54 25 57 6
11448935 2001
5
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. 57 6 25
14985389 2004
6
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. 6 57 25
11313753 2001
7
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? 25 57 6
10484774 1999
8
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. 57 25 61 54
18043721 2008
9
Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions. 57 61 25
21108634 2011
10
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). 25 57 61
16760196 2006
11
Focal dystonia as a presenting sign of spinocerebellar ataxia 17. 25 61 57
14978680 2004
12
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). 25 57 54
12953269 2003
13
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. 54 25 57
11939898 2002
14
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. 57 61 54
17474109 2007
15
Intergenerational instability and marked anticipation in SCA-17. 57 25
14638975 2003
16
SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications. 25 54 61
20004653 2010
17
Extrapyramidal signs are a common feature of spinocerebellar ataxia type 17. 57 61
19917997 2009
18
Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17. 57 61
19643914 2009
19
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). 25 54 61
18418687 2008
20
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. 54 25 61
17934876 2007
21
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). 61 57
17846415 2007
22
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. 61 25 54
17149738 2007
23
Electrophysiologic characterization in spinocerebellar ataxia 17. 57 61
16567717 2006
24
Putamen dopamine transporter and glucose metabolism are reduced in SCA17. 54 57
16130104 2005
25
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. 61 25 54
15989694 2005
26
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. 61 57
15313853 2004
27
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. 6 54
14756671 2004
28
Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17. 25 61 54
14967767 2004
29
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. 61 54 25
12891385 2003
30
Spinocerebellar Ataxia Type 17 (SCA17). 61 25
29427105 2018
31
Spinocerebellar ataxia type 17 associated with an expansion of 42 glutamine residues in TATA-box binding protein gene. 25 61
20587494 2010
32
Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. 25 54
19595623 2010
33
Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism. 61 25
19380697 2009
34
The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. 25 54
17805246 2007
35
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. 25 61
16223509 2005
36
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. 25 61
15365789 2005
37
Spinocerebellar ataxia type 17 repeat in patients with Huntington's disease-like and ataxia. 25 61
15236416 2004
38
Spinocerebellar ataxia type 17 in the Yugoslav population. 61 25
14763955 2004
39
RNA polymerase II transcription in murine cells lacking the TATA binding protein. 57
12411709 2002
40
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. 57
11914409 2002
41
Hereditary ataxia and the sixth chromosome. 57
6937161 1981
42
Beneficial effect of propranolol in familial ataxia. 57
426487 1979
43
The olivopontocerebellar atrophies: a review. 57
4910986 1970
44
Familial cerebello-olivary degeneration with late development of rigidity and dementia. 57
13378591 1956
45
Hereditary cerebellar ataxia; olivopontocerebellar type. 57
13297119 1956
46
Timing, rates and spectra of human germline mutation. 25
26656846 2016
47
A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea. 25
26613966 2016
48
SCA 17 phenotype with intermediate triplet repeat number. 25
25091452 2014
49
Psychiatric onset and late chorea in a patient with 41 CAG repeats in the TATA-binding protein gene. 25
24698056 2014
50
Late onset ataxia: MSA-C or SCA 17? A gene penetrance dilemma. 25
24343983 2014

Variations for Spinocerebellar Ataxia 17

ClinVar genetic disease variations for Spinocerebellar Ataxia 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC108663996 , TBP NM_003194.5(TBP):c.231del (p.Gln77fs) Deletion Pathogenic 998300 GRCh37: 6:170871055-170871055
GRCh38: 6:170561967-170561967
2 LOC108663996 , TBP NM_003194.5(TBP):c.231_237del (p.Gln77fs) Deletion Pathogenic 1028089 GRCh37: 6:170871055-170871061
GRCh38: 6:170561967-170561973
3 LOC108663996 , TBP NM_003194.5(TBP):c.231_243del (p.Gln77fs) Deletion Pathogenic 1028090 GRCh37: 6:170871055-170871067
GRCh38: 6:170561967-170561979
4 LOC108663996 , TBP NM_003194.5(TBP):c.276_277del (p.Gln93fs) Deletion Pathogenic 1028091 GRCh37: 6:170871100-170871101
GRCh38: 6:170562012-170562013
5 LOC108663996 , TBP NM_003194.5(TBP):c.279del (p.Gln93fs) Deletion Pathogenic 1028092 GRCh37: 6:170871103-170871103
GRCh38: 6:170562015-170562015
6 LOC108663996 , TBP NG_008165.1:g.12526CAR[(46_?)] Microsatellite Pathogenic 562072 GRCh37:
GRCh38: 6:170561908-170561908
7 LOC108663996 , TBP NM_003194.5(TBP):c.221_222insGC (p.Gln75fs) Insertion Uncertain significance 634587 rs1290125655 GRCh37: 6:170871045-170871046
GRCh38: 6:170561957-170561958
8 TBP NM_003194.5(TBP):c.410C>T (p.Pro137Leu) SNV Uncertain significance 1033982 GRCh37: 6:170871234-170871234
GRCh38: 6:170562146-170562146
9 LOC108663996 , TBP NM_003194.5(TBP):c.216A>G (p.Gln72=) SNV Likely benign 130558 rs55736770 GRCh37: 6:170871040-170871040
GRCh38: 6:170561952-170561952
10 LOC108663996 , TBP NM_003194.5(TBP):c.216_218del (p.Gln95del) Deletion Benign 522261 rs71815788 GRCh37: 6:170871038-170871040
GRCh38: 6:170561950-170561952

Expression for Spinocerebellar Ataxia 17

Search GEO for disease gene expression data for Spinocerebellar Ataxia 17.

Pathways for Spinocerebellar Ataxia 17

Pathways related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 PPP2R2B FGF14 ATXN7 ATXN3 ATXN2 ATXN1
2
Show member pathways
11.96 SLC6A3 ATXN7 ATXN3 ATXN2 ATXN1
3 11.32 TBP FGF14 CACNA1A ATXN8OS ATXN3 ATXN2

GO Terms for Spinocerebellar Ataxia 17

Cellular components related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inclusion body GO:0042405 8.96 ATXN3 ATXN1
2 nuclear matrix GO:0016363 8.92 ATXN7 ATXN3 ATXN1 ATN1

Biological processes related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exploration behavior GO:0035640 8.62 JPH3 ATXN3

Sources for Spinocerebellar Ataxia 17

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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