MCID: SPN305
MIFTS: 40

Spinocerebellar Ataxia 11 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 11

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Aliases & Descriptions for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 50 46 68 12 66
Spinocerebellar Ataxia Type 11 11 22 46 13 52 25
 
Sca11 22 46 52 68

Characteristics:

Orphanet epidemiological data:

52
spinocerebellar ataxia type 11:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly

HPO:

62
spinocerebellar ataxia 11:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset


Classifications:



External Ids:

OMIM50 604432
Disease Ontology11 DOID:0050961
Orphanet52 ORPHA98767
ICD10 via Orphanet29 G11.8
MedGen35 C1858351
MeSH37 D020754

Summaries for Spinocerebellar Ataxia 11

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NIH Rare Diseases:46 Spinocerebellar ataxia type 11 (sca11) is characterized by progressive cerebellar ataxia (difficulty walking and balance) and abnormal eye signs (jerky pursuit, horizontal and vertical movements (nystagmus), pyramidal features (increased muscular tonus, increased reflexes and an abnormal reflex known as babinski sign and inability to make to perform fine movements), peripheral neuropathy with numbness, weakness or pain in the feet or hands or other places of the body and dystonia. it is a very rare disease and very few patients have been reported to date. in them, age of onset ranged from the early teens to the second decade of life and life span was normal. diagnosis is based on signs and symptoms and with a genetic exam showing an alteration (mutation) in the ttbk2 gene. it is inherited in an autosomal dominant manner. treatment may include speech and language therapy for talking and swallowing problems, occupational therapy, including home adaptations, physiotherapy and use of assistive walking devices and ankle-foot orthotics (afos) for those with neuropathy. last updated: 8/11/2015

MalaCards based summary: Spinocerebellar Ataxia 11, also known as spinocerebellar ataxia type 11, is related to spinocerebellar ataxia, autosomal recessive 11 and spinocerebellar ataxia type11, and has symptoms including nystagmus, dysarthria and cerebellar atrophy. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways are Alzheimers Disease Pathway and Organelle biogenesis and maintenance. Affiliated tissues include eye, spinal cord and cerebellum, and related mouse phenotype taste/olfaction.

UniProtKB/Swiss-Prot:68 Spinocerebellar ataxia 11: 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. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late- onset, slowly progressive neurologic disorder.

Description from OMIM:50 604432

GeneReviews summary for NBK1757

Related Diseases for Spinocerebellar Ataxia 11

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Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
spinocerebellar ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 13 Spinocerebellar Ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Type 42

Diseases related to Spinocerebellar Ataxia 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia, autosomal recessive 1111.1
2spinocerebellar ataxia type1111.1
3hypotrichosis 110.4PRKCG, TTBK2
4testicular seminoma10.1MAPT, TARDBP
5suppurative thyroiditis10.1MAPT, TARDBP
6anti-p200 pemphigoid10.1MAPT, TARDBP
7dracunculiasis10.1PRKCG, SPTBN2, TTBK2
8andersen syndrome10.1MAPT, TARDBP
9retrograde amnesia10.0MAPT, TARDBP
10acrofrontofacionasal dysostosis10.0MAPT, TARDBP
11microsporidiosis10.0MAPT, TARDBP
12methylmalonic acidemia with homocystinuria, type cblj9.9MAPT, TARDBP
13nasal cavity inverting papilloma9.9MAPT, TARDBP
14mast syndrome9.8MAPT, TARDBP
15colon kaposi sarcoma9.8MAPT, TARDBP
16necatoriasis9.7PRKCG, SPTBN2
17perry syndrome9.7MAPT, TARDBP
18elephantiasis9.6MAPT, SHH, TARDBP
19thryoid dyshormonogenesis 65.8CCP110, CEP164, CEP97, GRIK2, MAPT, PRKCG

Graphical network of diseases related to Spinocerebellar Ataxia 11:



Diseases related to spinocerebellar ataxia 11

Symptoms for Spinocerebellar Ataxia 11

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Symptoms by clinical synopsis from OMIM:

604432

Clinical features from OMIM:

604432

HPO human phenotypes related to Spinocerebellar Ataxia 11:

id Description Frequency HPO Source Accession
1 nystagmus HP:0000639
2 dysarthria HP:0001260
3 cerebellar atrophy HP:0001272
4 hyperreflexia HP:0001347
5 progressive cerebellar ataxia HP:0002073

Drugs & Therapeutics for Spinocerebellar Ataxia 11

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Drugs for Spinocerebellar Ataxia 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SerotoninPhase 4351050-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
2
DopaminePhase 4367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3dexetimidePhase 450021888-98-2
4
CitalopramPhase 450059729-33-82771
Synonyms:
1,3-Dihydro-1-(3-(dimethylamino)propyl)-1-(4-fluorophenyl)-5-isobenzofurancarbonitrile
1,3-dihydro[3,4]benzofuran-5-carbonitrile
1-(3-(Dimethylamino)propyl)-1-(p-fluorophenyl)-5-phthalancarbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-3H-2-benzofuran-5-carbonitrile
59729-33-8
AB00513896
AC-12214
AC1L1EFH
AE-641/00603021
Akarin
BPBio1_000929
BRD-A47598013-004-02-0
BSPBio_000843
Bonitrile
C07572
C20H21FN2O
CHEBI:3723
CHEMBL549
CID2771
CPD000465669
Celapram
Celexa
Celius
Ciazil
Cilift
Cipram
Cipramil
Ciprapine
Citabax
Citadur
Citadur (TN)
Citalec
Citalopram (USP/INN)
Citalopram Hydrobromide
Citalopram [Celexa]
Citalopram [INN:BAN]
Citalopram hydrobromide
Citalopramum
Citalopramum [INN-Latin]
 
Citol
Citopam
Citox
Citrol
Cytalopram
D07704
DB00215
Dalsan
EINECS 261-891-1
Elopram
HMS2090O09
HMS2093A14
Humorup
I01-0382
InChI=1/C20H21FN2O/c1-23(2)11-3-10-20(17-5-7-18(21)8-6-17)19-9-4-15(13-22)12-16(19)14-24-20/h4-9,12H,3,10-11,14H2,1-2H3
L001223
LS-84327
Lopac0_000258
Lu 10-171
Lu-10-171
MolPort-003-666-794
NCGC00015267-07
NCGC00025160-02
Nitalapram
Oropram
Pramcit
Prestwick3_000692
Recital
SAM002589960
ST069372
STL058639
Seropram
Talam
Talohexal
Temperax
UNII-0DHU5B8D6V
Vodelax
Zentius
Zetalo
[3H]Citalopram
citalopram
5
BupropionPhase 431334841-39-9, 34911-55-2444
Synonyms:
( -)-2-(tert-Butylamino)-3'-chloropropiophenone
( -)-2-(tert-Butylamino)-3'-chlorpropiophenon
(+-)-1-(3-chlorophenyl)-2-((1,1-dimethylethyl)amino)-1-propanone
(+-)-Bupropion
.alpha.-(tert-Butylamino)-m-chloropropiophenone
1-(3-chlorophenyl)-2-[(1,1-dimethylethyl)amino]propan-1-one
2-(Tert-Butylamino)-3'-chloropropiophenone
2-(tert-butylamino)-1-(3-chlorophenyl)propan-1-one
34841-36-6 (hydrochloride)
34841-39-9
34911-55-2
AB00053756
AC-197
AC1L198Y
AMFEBUTAMONE HCl
Amfebutamon
Amfebutamona
Amfebutamona [INN-Spanish]
Amfebutamone
Amfebutamonum
Amfebutamonum [INN-Latin]
BPBio1_000042
BRD-A05186015-003-05-7
BRN 2101062
BSPBio_000038
BSPBio_002247
Bupropion (INN)
Bupropion (Old RN)
Bupropion (USAN)
Bupropion Hcl
Bupropion SR
Bupropion [INN:BAN]
Bupropion hydrocloride
C06860
CHEBI:3219
CHEMBL894
CID444
CPD000472526
D07591
DB01156
DivK1c_007050
Elont
 
HMS2051G10
HMS2089G14
Jsp006301
KBio1_001994
KBio2_002143
KBio2_004711
KBio2_007279
KBio3_001467
KBioGR_001168
KBioSS_002143
L000725
LS-122817
Lopac0_000166
MLS001424015
MolPort-003-845-432
NCGC00015122-06
NCGC00089751-02
NCI60_002714
NSC315851
Prestwick0_000249
Prestwick1_000249
Prestwick2_000249
Prestwick3_000249
SAM001246699
SMR000472526
SPBio_001817
SPBio_002257
SpecPlus_000954
Spectrum2_001659
Spectrum3_000644
Spectrum4_000614
Spectrum5_001406
Spectrum_001663
TL8002604
UNII-01ZG3TPX31
Wellbatrin
Wellbutrin
Wellbutrin SR
Wellbutrin XL
Zyban
alpha-(tert-butylamino)-m-chloropropiophenone
amfebutamonum
bupropion

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich AtaxiaCompletedNCT01716221Phase 4
2An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar AtaxiasRecruitingNCT02287064Phase 1
3Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 11

Genetic Tests for Spinocerebellar Ataxia 11

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Genetic tests related to Spinocerebellar Ataxia 11:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1125

Anatomical Context for Spinocerebellar Ataxia 11

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MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

34
Eye, Spinal cord, Cerebellum

Animal Models for Spinocerebellar Ataxia 11 or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1MAPT, PRKCG, SHH

Publications for Spinocerebellar Ataxia 11

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Variations for Spinocerebellar Ataxia 11

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Clinvar genetic disease variations for Spinocerebellar Ataxia 11:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TTBK2NM_173500.3(TTBK2): c.1306_1307delGA (p.Asp436Tyrfs)deletionPathogenicrs318240735GRCh37Chr 15, 43069331: 43069332
2TTBK2NM_173500.3(TTBK2): c.1329dupA (p.Arg444Thrfs)duplicationPathogenicrs80356538GRCh37Chr 15, 43069309: 43069309
3TTBK2NM_173500.3(TTBK2): c.1284_1285delAG (p.Glu429Aspfs)deletionPathogenicrs80356539GRCh37Chr 15, 43069353: 43069354

Expression for genes affiliated with Spinocerebellar Ataxia 11

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 11.

Pathways for genes affiliated with Spinocerebellar Ataxia 11

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Pathways related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6MAPT, PRKCG
2
Show member pathways
8.8CCP110, CEP164, CEP97, TTBK2

GO Terms for genes affiliated with Spinocerebellar Ataxia 11

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Cellular components related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:00058149.6CCP110, CEP164, TTBK2
2dendriteGO:00304258.5GRIK2, MAPT, PRKCG, RAB5A
3cytosolGO:00058296.5CCP110, CEP164, CEP97, MAPT, PRKCG, RAB5A

Biological processes related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cilium assemblyGO:19020189.7CCP110, CEP97
2negative regulation of protein catabolic processGO:00421779.7PRKCG, SHH
3chemical synaptic transmissionGO:00072689.4GRIK2, PRKCG, SLC6A12
4cell projection organizationGO:00300309.3CCP110, CEP97

Sources for Spinocerebellar Ataxia 11

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet