MCID: SPN305
MIFTS: 41

Spinocerebellar Ataxia 11 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 11

About this section

Aliases & Descriptions for Spinocerebellar Ataxia 11:

Name: Spinocerebellar Ataxia 11 52 48 70 12 68
Spinocerebellar Ataxia Type 11 11 23 48 54 27 13
 
Sca11 23 48 54 70

Characteristics:

Orphanet epidemiological data:

54
spinocerebellar ataxia type 11:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: elderly

HPO:

64
spinocerebellar ataxia 11:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset

GeneReviews:

23
Penetrance: the ttbk2 pathogenic variants in the four families described to date appear to be fully penetrant, although a number of at-risk relatives are younger than the typical age of onset...


Classifications:



External Ids:

OMIM52 604432
Disease Ontology11 DOID:0050961
Orphanet54 ORPHA98767
ICD10 via Orphanet31 G11.8
MedGen37 C1858351
MeSH39 D020754

Summaries for Spinocerebellar Ataxia 11

About this section
NIH Rare Diseases:48 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:70 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:52 604432

GeneReviews for NBK1757

Related Diseases for Spinocerebellar Ataxia 11

About this section

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
Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia, Autosomal Recessive, 24
Spinocerebellar Ataxia, Autosomal Recessive, 22

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 1111.0
2spinocerebellar ataxia type1111.0
3spinocerebellar ataxia 110.8
4hypotrichosis 110.3PRKCG, TTBK2
5testicular seminoma10.1MAPT, TARDBP
6suppurative thyroiditis10.0MAPT, TARDBP
7anti-p200 pemphigoid10.0MAPT, TARDBP
8dracunculiasis10.0PRKCG, SPTBN2, TTBK2
9andersen syndrome10.0MAPT, TARDBP
10retrograde amnesia10.0MAPT, TARDBP
11acrofrontofacionasal dysostosis9.9MAPT, TARDBP
12microsporidiosis9.9MAPT, 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 66.2CCP110, CEP164, CEP97, GRIK2, MAPT, PRKCG

Graphical network of diseases related to Spinocerebellar Ataxia 11:



Diseases related to spinocerebellar ataxia 11

Symptoms & Phenotypes for Spinocerebellar Ataxia 11

About this section

Symptoms by clinical synopsis from OMIM:

604432

Clinical features from OMIM:

604432

Human phenotypes related to Spinocerebellar Ataxia 11:

 64
id Description HPO Frequency HPO Source Accession
1 nystagmus64 HP:0000639
2 dysarthria64 HP:0001260
3 cerebellar atrophy64 HP:0001272
4 hyperreflexia64 HP:0001347
5 progressive cerebellar ataxia64 HP:0002073

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 11 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1MAPT, PRKCG, SHH

Drugs & Therapeutics for Spinocerebellar Ataxia 11

About this section

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

(show all 42)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BupropionapprovedPhase 431934841-39-9, 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
2
CitalopramapprovedPhase 450359729-33-82771
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
3
DopamineapprovedPhase 4375951-61-6, 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
4ParasympatholyticsPhase 41050
5Neurotransmitter AgentsPhase 417734
6Neurotransmitter Uptake InhibitorsPhase 43464
7Psychotropic DrugsPhase 46279
8Serotonin Uptake InhibitorsPhase 41570
9Antidepressive AgentsPhase 42666
10
SerotoninPhase 4356650-67-95202
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
11Muscarinic AntagonistsPhase 41134
12Peripheral Nervous System AgentsPhase 4, Phase 322776
13Serotonin AgentsPhase 43102
14Autonomic AgentsPhase 4, Phase 39774
15Antiparkinson AgentsPhase 41527
16Dopamine Uptake InhibitorsPhase 41305
17Cholinergic AgentsPhase 43846
18Antidepressive Agents, Second-GenerationPhase 41287
19Dopamine AgentsPhase 43759
20Cholinergic AntagonistsPhase 41658
21Cytochrome P-450 Enzyme InhibitorsPhase 43822
22Cytochrome P-450 CYP2D6 InhibitorsPhase 4716
23
Dexamethasoneapproved, investigational, vet_approvedPhase 3208450-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
 
Dexameth
Dexamethansone
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
24Pharmaceutical SolutionsPhase 3, Phase 17793
25Hormone AntagonistsPhase 312778
26HIV Protease InhibitorsPhase 35319
27glucocorticoidsPhase 34920
28
protease inhibitorsPhase 35320
Synonyms:
 
protease inhibitors
29HormonesPhase 313979
30Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
31Dexamethasone 21-phosphatePhase 32084
32Anti-Inflammatory AgentsPhase 310355
33Gastrointestinal AgentsPhase 38109
34Antineoplastic Agents, HormonalPhase 35407
35AntiemeticsPhase 33888
36BB 1101Phase 32084
37Dexamethasone acetatePhase 320841177-87-3
38Immunoglobulins, IntravenousPhase 1324
39Rho(D) Immune GlobulinPhase 1317
40gamma-GlobulinsPhase 1317
41AntibodiesPhase 16045
42ImmunoglobulinsPhase 16045

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich AtaxiaCompletedNCT01716221Phase 4
2EDS in Ataxia Telangiectasia PatientsNot yet recruitingNCT02770807Phase 3
3An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar AtaxiasRecruitingNCT02287064Phase 1
4Rare 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

About this section

Genetic tests related to Spinocerebellar Ataxia 11:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1127

Anatomical Context for Spinocerebellar Ataxia 11

About this section

MalaCards organs/tissues related to Spinocerebellar Ataxia 11:

36
Eye, Spinal cord, Cerebellum

Publications for Spinocerebellar Ataxia 11

About this section

Variations for Spinocerebellar Ataxia 11

About this section

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

About this section
Search GEO for disease gene expression data for Spinocerebellar Ataxia 11.

Pathways for genes affiliated with Spinocerebellar Ataxia 11

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1centrioleGO:00058149.9CCP110, CEP164, TTBK2
2dendriteGO:00304258.8GRIK2, MAPT, PRKCG, RAB5A
3cytosolGO:00058297.2CCP110, CEP164, CEP97, MAPT, PRKCG, RAB5A

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

idNameGO IDScoreTop Affiliating Genes
1cell projection organizationGO:003003010.0CCP110, CEP97
2chemical synaptic transmissionGO:00072689.8GRIK2, PRKCG, SLC6A12
3negative regulation of cilium assemblyGO:19020189.8CCP110, CEP97
4negative regulation of protein catabolic processGO:00421779.5PRKCG, SHH

Sources for Spinocerebellar Ataxia 11

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet