MCID: SPN305
MIFTS: 34

Spinocerebellar Ataxia 11 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 11

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Aliases & Descriptions for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 49 11 45 67 65
Spinocerebellar Ataxia Type 11 10 21 45 12 51 24
 
Sca11 21 45 51 67

Characteristics:

Orphanet epidemiological data:

51
spinocerebellar ataxia type 11:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly

HPO:

61
spinocerebellar ataxia 11:
Onset and clinical course: adult onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604432
Disease Ontology10 DOID:0050961
Orphanet51 98767
ICD10 via Orphanet28 G11.8
MedGen34 C1858351
MeSH36 D020754
UMLS65 C1858351

Summaries for Spinocerebellar Ataxia 11

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NIH Rare Diseases:45 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 autosomal recessive cerebellar ataxia-psychomotor retardation syndrome and spinocerebellar ataxia, autosomal recessive 11, and has symptoms including progressive cerebellar ataxia, hyperreflexia and cerebellar atrophy. An important gene associated with Spinocerebellar Ataxia 11 is TTBK2 (Tau Tubulin Kinase 2), and among its related pathways is Organelle biogenesis and maintenance. Affiliated tissues include eye, cerebellum and spinal cord.

UniProtKB/Swiss-Prot:67 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:49 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 Autosomal Recessive 5

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive cerebellar ataxia-psychomotor retardation syndrome11.5
2spinocerebellar ataxia, autosomal recessive 1111.5
3spinocerebellar ataxia type1111.5
4chronic lymphocytic leukemia10.2
5leukemia10.2
6mucopolysaccharidosis10.2
7cervicitis10.2
8polycythemia10.2
9labyrinthine bilateral reactive loss10.2SPTBN2, TTBK2
10bradyopsia10.1MAPT, TARDBP
11semmekrot haraldsson weemaes syndrome10.1MAPT, TARDBP
12corticosteroid-sensitive aseptic abscesses10.0MAPT, TARDBP
13estrogen excess10.0MAPT, TARDBP
14basophil adenoma10.0MAPT, TARDBP
15mast syndrome10.0MAPT, TARDBP
16atrial fibrillation10.0MAPT, TARDBP
17inverted transitional papilloma10.0MAPT, TARDBP
18encephalitozoonosis10.0MAPT, TARDBP
19perry syndrome10.0MAPT, TARDBP
20tauopathy10.0MAPT, TARDBP
21cerebritis9.9MAPT, TARDBP
22parkinson disease 19.9MAPT, TARDBP
23peripheral vascular disease9.9MAPT, TARDBP
24pick disease9.8MAPT, TARDBP
25actinobacillosis9.7MAPT, SHH, TARDBP
26cardiomyopathy, dilated, 1u9.7MAPT, TARDBP
27thryoid dyshormonogenesis 67.6CCP110, CEP164, CEP97, MAPT, SHH, SLC6A12

Graphical network of the top 20 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 progressive cerebellar ataxia HP:0002073
2 hyperreflexia HP:0001347
3 cerebellar atrophy HP:0001272
4 dysarthria HP:0001260
5 nystagmus HP:0000639

Drugs & Therapeutics for Spinocerebellar Ataxia 11

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

(show all 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CitalopramapprovedPhase 449459729-33-82771
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
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
Perrigo Citalopram
Pramcit
Prestwick3_000692
Recital
SAM002589960
ST069372
STL058639
Seropram
Talam
Talohexal
Temperax
UNII-0DHU5B8D6V
Vodelax
Zentius
Zetalo
[3H]Citalopram
citalopram
2
DopamineapprovedPhase 4308462-31-7, 51-61-6681
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 Hcl
Dopamine 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
3
BupropionapprovedPhase 430834841-39-9444
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]
Aplenzin
BPBio1_000042
BRD-A05186015-003-05-7
BRN 2101062
BSPBio_000038
BSPBio_002247
Budeprion
Buproban
Bupropion
Bupropion (INN)
Bupropion (Old RN)
Bupropion (USAN)
Bupropion Hcl
Bupropion Hydrochloride
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
Wellbutrin Xl
Zyban
alpha-(tert-butylamino)-m-chloropropiophenone
amfebutamonum
bupropion
4Antidepressive AgentsPhase 42367
5ParasympatholyticsPhase 4902
6Neurotransmitter Uptake InhibitorsPhase 42857
7Peripheral Nervous System AgentsPhase 418510
8Psychotropic DrugsPhase 45501
9Serotonin Uptake InhibitorsPhase 41369
10Serotonin AgentsPhase 42668
11
SerotoninPhase 4314750-67-95202
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
12Muscarinic AntagonistsPhase 4961
13Neurotransmitter AgentsPhase 414795
14Cholinergic AgentsPhase 43243
15Dopamine Uptake InhibitorsPhase 4925
16Antidepressive Agents, Second-GenerationPhase 41087
17Cholinergic AntagonistsPhase 41423
18Antiparkinson AgentsPhase 41312
19Cytochrome P-450 CYP2D6 InhibitorsPhase 4602
20Dopamine AgentsPhase 43084
21Cytochrome P-450 Enzyme InhibitorsPhase 43036
22Pharmaceutical SolutionsPhase 17004
23Rho(D) Immune GlobulinPhase 1206
24Immunologic FactorsPhase 118483
25ImmunoglobulinsPhase 14477
26AntibodiesPhase 14477
27Immunoglobulins, IntravenousPhase 1211

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

Search NIH Clinical Center for Spinocerebellar Ataxia 11

Genetic Tests for Spinocerebellar Ataxia 11

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Anatomical Context for Spinocerebellar Ataxia 11

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MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

33
Eye, Cerebellum, Spinal cord, Skin

Animal Models for Spinocerebellar Ataxia 11 or affiliated genes

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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
1
Show member pathways
8.7CCP110, 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
1microtubule organizing centerGO:00058159.3CCP110, CEP97

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

idNameGO IDScoreTop Affiliating Genes
1regulation of cell shapeGO:00083609.7TTBK1, TTBK2
2smoothened signaling pathwayGO:00072249.6SHH, TTBK2

Sources for Spinocerebellar Ataxia 11

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet