MCID: ATS308
MIFTS: 49

Autosomal Dominant Cerebellar Ataxia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Autosomal Dominant Cerebellar Ataxia

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Aliases & Descriptions for Autosomal Dominant Cerebellar Ataxia:

Name: Autosomal Dominant Cerebellar Ataxia 11 48 13
Spinocerebellar Ataxia 11 71 48
Spinocerebellar Ataxias 50 39
Ataxia, Spinocerebellar 68
 
Cardiac Arrest 68
Adca 48
Sca 48

Classifications:



External Ids:

Disease Ontology11 DOID:1441
ICD9CM32 334.3
SNOMED-CT62 129609000
MeSH39 D020754
NCIt45 C82341

Summaries for Autosomal Dominant Cerebellar Ataxia

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NIH Rare Diseases:48 Autosomal dominant cerebellar ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia. Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait). Coordination of hands and clearness of speech (dysarthria) are also affected.  The area of the brain controlling balance and movement decreases in size (cerebellar atrophy). This can be seen on brain imaging.   The ataxia usually slowly worsens over time.  While the age of onset can vary, the symptoms most commonly begin during adult years. ADCAs include the autosomal dominant spinocerebellar ataxias (SCAs), all of the episodic ataxias (EAs) and the one dominant type of spastic ataxia (SPAX1).   Mutations or changes in many different genes are known to cause many of the different types of ADCA, but more genes are still being discovered. Inheritance is autosomal dominant . Diagnosis of ADCA is based on clinical history, physical examination, genetic testing, and ruling out other diseases. While there is still no cure, treatment options for specific symptoms may be available, depending on the type and severity of symptoms. Management of ACDA may involve several specialists. Last updated: 7/10/2016

MalaCards based summary: Autosomal Dominant Cerebellar Ataxia, also known as spinocerebellar ataxia, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia 15, and has symptoms including abnormality of the pupil, nystagmus and optic atrophy. An important gene associated with Autosomal Dominant Cerebellar Ataxia is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways are Long-term depression and Chks in Checkpoint Regulation. The drugs calcium gluconate pwdr and epinephrine have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and spinal cord, and related mouse phenotypes are mortality/aging and growth/size/body region.

Disease Ontology:11 A hereditary ataxia that has material basis in autosomal dominant inheritance.

Wikipedia:71 Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an... more...

Related Diseases for Autosomal Dominant Cerebellar Ataxia

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Diseases in the Cerebellar Ataxia family:

Autosomal Recessive Cerebellar Ataxia autosomal dominant cerebellar ataxia
Syne1-Related Autosomal Recessive Cerebellar Ataxia

Diseases related to Autosomal Dominant Cerebellar Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 732.5ATXN2, ATXN7
2spinocerebellar ataxia 1530.8ITPR1, KCNC3, SPTBN2
3spinocerebellar ataxia 1311.7
4cerebellar ataxia, deafness, and narcolepsy, autosomal dominant11.4
5spinocerebellar ataxia 111.3
6machado-joseph disease11.3
7spinocerebellar ataxia 1211.2
8spinocerebellar ataxia 511.0
9spinocerebellar ataxia 211.0
10spinocerebellar ataxia 1011.0
11spinocerebellar ataxia 1710.9
12dentatorubro-pallidoluysian atrophy10.9
13spinocerebellar ataxia 810.9
14spinocerebellar ataxia 2710.9
15spinocerebellar ataxia 1110.9
16spinocerebellar ataxia 3110.9
17spinocerebellar ataxia 2810.9
18spinocerebellar ataxia 610.9
19spinocerebellar ataxia 1410.9
20cerebellar ataxia10.8
21ataxia10.8
22schistosoma mansoni infection, susceptibility/10.3ATXN3, CACNA1A, PPP2R2B
23osteopathia striata with cranial sclerosis10.3ATXN1, ATXN3, ATXN7
24miller fisher syndrome10.2ATXN3, TBP
25basilar impression, primary10.2ATXN1, ATXN3
26celiac disease 1310.2ATXN2, ATXN3, ATXN7, CACNA1A
27narcolepsy10.2
28oguchi disease-210.2CACNA1A, FGF14
29hypogonadotropic hypogonadism 3 with or without anosmia10.2ATXN10, ATXN2, PPP2R2B
30cerebral cavernous malformations 310.1KCNC3, TTBK2
31retinitis10.1
32retinal degeneration10.1
33neuropathy10.1
34hypocalcemia, autosomal dominant 210.1ATXN3, ATXN7, CACNA1A, PLEKHG4
35lissencephaly 6, with microcephaly10.1ATXN3, ATXN7, CACNA1A, PLEKHG4
36thryoid dyshormonogenesis 69.9PRKCG, SPTBN2, TTBK2
37auditory neuropathy, autosomal dominant, 19.9ATXN10, ATXN8OS, PPP2R2B
38paraplegia9.8
39spasticity9.8
40hereditary spastic paraplegia9.8AFG3L2, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
41parkinson disease, late-onset9.7ATXN2, ATXN3, ATXN8OS, TBP
42melkersson-rosenthal syndrome9.7ITPR1, KCNC3, SPTBN2
43mednik syndrome9.7ATXN3, ATXN7, CACNA1A, PLEKHG4, SPTBN2
44hypotrichosis 19.6AFG3L2, FGF14, KCNC3, PRKCG, TTBK2
45mental retardation, autosomal recessive 329.3ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
46tremor, hereditary essential, 39.1ATN1, ATXN1, ATXN3, ATXN7, ATXN8OS, CACNA1A
47mucopolysaccharidosis ih9.0ATN1, ATXN1, ATXN3, ITPR1, TBP
48bruck syndrome 28.5ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7
49okt4 epitope deficiency8.5ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
50atrial fibrillation and stroke8.0AFG3L2, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7

Graphical network of the top 20 diseases related to Autosomal Dominant Cerebellar Ataxia:



Diseases related to autosomal dominant cerebellar ataxia

Symptoms & Phenotypes for Autosomal Dominant Cerebellar Ataxia

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Human phenotypes related to Autosomal Dominant Cerebellar Ataxia:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 abnormality of the pupil64 hallmark (90%) HP:0000615
2 nystagmus64 hallmark (90%) HP:0000639
3 optic atrophy64 hallmark (90%) HP:0000648
4 gait disturbance64 hallmark (90%) HP:0001288
5 incoordination64 hallmark (90%) HP:0002311
6 aplasia/hypoplasia of the cerebellum64 hallmark (90%) HP:0007360
7 abnormality of retinal pigmentation64 hallmark (90%) HP:0007703
8 behavioral abnormality64 typical (50%) HP:0000708
9 hypertonia64 typical (50%) HP:0001276
10 reduced tendon reflexes64 typical (50%) HP:0001315
11 emphysema64 typical (50%) HP:0002097
12 neurological speech impairment64 typical (50%) HP:0002167
13 impaired pain sensation64 typical (50%) HP:0007328
14 ophthalmoparesis64 occasional (7.5%) HP:0000597
15 skeletal muscle atrophy64 occasional (7.5%) HP:0003202
16 type ii diabetes mellitus64 occasional (7.5%) HP:0005978

UMLS symptoms related to Autosomal Dominant Cerebellar Ataxia:


chest pain, ataxia, cerebellar ataxia, difficulty standing, abnormal coordination, loss of control of walking, equilibration disorder, trendelenburg's symptom, gait deviation

MGI Mouse Phenotypes related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7AFG3L2, ATN1, ATXN1, ATXN10, ATXN2, ATXN7
2MP:00053786.8AFG3L2, ATN1, ATXN1, ATXN2, ATXN7, CACNA1A
3MP:00053866.8AFG3L2, ATN1, ATXN1, ATXN2, ATXN3, ATXN7
4MP:00036315.5AFG3L2, ATN1, ATXN1, ATXN2, ATXN3, ATXN7

Drugs & Therapeutics for Autosomal Dominant Cerebellar Ataxia

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Drugs for Autosomal Dominant Cerebellar Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 179)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Estradiolapproved, investigational, vet_approvedPhase 4128350-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
2
ClonidineapprovedPhase 42264205-90-72803
Synonyms:
1H-Imidazol-2-amine, N-(2,6-dichlorophenyl)-4,5-dihydro- (9CI)
2,6-Dichloro-N-2-imidazolidinylidenebenzenamine
2,6-dichloro-N-(2-imidazolidinylidene)aniline
2,6-dichloro-N-2-imidazolidinylidenebenzenamide
2,6-dichloro-N-imidazolidin-2-ylideneaniline
2-((2,6-Dichlorophenyl)imino)imidazolidine
2-(2,6-Dichloroanilino)-1,3-diazacyclopentene-(2)
2-(2,6-Dichloroanilino)-2-imidazoline
2-(2,6-Dichlorophenylamino)-2-imidazoline
2-(2,6-Dichlorophenylimino)imidazolidine
2-Imidazoline, 2-(2,6-dichloroanilino)- (7CI,8CI)
2-[(2,6-Dichlorophenyl)imino]imidazoline
2-[(2,6-dichlorophenyl)imino]-2-imidazoline
4205-90-7
4205-91-8 (mono-hydrochloride)
57066-25-8
734571A
AB00514634
AC1L1EI5
AC1Q3K6V
AKOS001595470
Adesipress
BIDD:GT0547
BPBio1_000040
BRD-K98530306-001-02-1
BRD-K98530306-003-05-0
BSPBio_000036
BSPBio_001588
BSPBio_002055
Bio1_000470
Bio1_000959
Bio1_001448
Bio2_000308
Bio2_000788
C9H9Cl2N3
CAS-4205-91-8
CATAPRES-TTS-1
CATAPRES-TTS-2
CATAPRES-TTS-3
CCRIS 7787
CHEBI:3757
CHEBI:46632
CHEMBL134
CID2803
Catapres
Catapres- TTS
Catapres-TTS
Catapresan
Catapressan
Catarpres
Catarpres-TTS
Catarpres-TTS (TN)
Catarpresan
Chlofazoline
Chlornidinum
Clofenil
Clonidin
Clonidina
Clonidina [INN-Spanish]
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine [USAN:BAN:INN]
Clonidinhydrochlorid
Clonidinum
Clonidinum [INN-Latin]
Clonistada
Clopheline
D00281
DB00575
DB07566
DivK1c_000774
 
Dixarit
Duraclon
Duraclont
EINECS 224-119-4
Gemiton
HMS1361P10
HMS1791P10
HMS1989P10
HMS2089G11
HSDB 3040
Hemiton
IDI1_000774
IDI1_034058
Ipotensium
Isoglaucon
KBio1_000774
KBio2_000308
KBio2_001821
KBio2_002876
KBio2_004389
KBio2_005444
KBio2_006957
KBio3_000615
KBio3_000616
KBio3_001275
KBioGR_000308
KBioGR_001572
KBioSS_000308
KBioSS_001821
Klofelin
Klofenil
L000193
LS-79606
Lopac-C-7897
Lopac0_000268
M 5041T
M-5041T
MolPort-001-779-668
MolPort-005-932-374
N-(2,6-Dichlorophenyl)-4,5-dihydro-1H-imidazol-2-amine
NCGC00015268-01
NCGC00015268-02
NCGC00015268-08
NCGC00024734-01
NCGC00024734-02
NCGC00024734-03
NCGC00024734-04
NCGC00024734-05
NCGC00179680-01
NINDS_000774
Prestwick0_000248
Prestwick1_000248
Prestwick2_000248
Prestwick3_000248
SKF 34427
SPBio_001233
SPBio_002255
ST 155BS
ST-155-BS
ST-155BS
Spectrum2_001187
Spectrum3_000358
Spectrum4_000956
Spectrum5_000759
Spectrum_001341
T171
Tenso-Timelets
Tocris-0690
UNII-MN3L5RMN02
ZINC00896484
clonidine
nchembio.79-comp11
nchembio705-10
3
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
4
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
5
Pioglitazoneapproved, investigationalPhase 4, Phase 3435111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
6
AmantadineapprovedPhase 467768-94-52130
Synonyms:
1-Adamantamine
1-Adamantanamine
1-Adamantanamine (8CI)
1-Adamantylamine
1-Aminoadamantane
1-Aminotricyclo(3.3.1.1(sup 3,7))decane
1-adamantanamine
1-adamantylamine
1-aminoadamantane
138576_ALDRICH
665-66-7 (hydrochloride)
768-94-5
AB00514655
AC-11992
AC1L1CZI
AC1Q4UAF
AC1Q5396
ADAMANTANE,1-AMINO
AKOS000113994
AKOS000119324
Adamantamine
Adamantanamine
Adamantylamine
Amant
Amantadina
Amantadina [INN-Spanish]
Amantadine
Amantadine (INN)
Amantadine Base
Amantadine HCL
Amantadine Hydrochloride
Amantadine [INN:BAN]
Amantadinum
Amantadinum [INN-Latin]
Amantidine
Ambap768-94-5
Aminoadamantane
BIA4304
BIDD:GT0757
BPBio1_000368
BRN 2204333
BSPBio_000334
BSPBio_001570
BSPBio_001822
Bio-0821
C06818
C10H17N
CHEBI:2618
CHEMBL660
CID2130
D07441
DB00915
DivK1c_000815
EINECS 212-201-2
Endantadine
Gen-Amantadine
HMS1791O12
HMS1989O12
HSDB 3202
I14-1101
IDI1_000815
InChI=1/C10H17N/c11-10-4-7-1-8(5-10)3-9(2-7)6-10/h7-9H,1-6,11H
KBio1_000815
KBio2_000390
 
KBio2_002958
KBio2_005526
KBio3_001322
KBioGR_000548
KBioSS_000390
L000868
LS-157049
Lopac-A-1260
Lopac0_000004
Mantadine
MolPort-001-661-700
MolPort-001-760-587
MolPort-001-791-102
NCGC00015036-01
NCGC00015036-07
NCGC00162039-01
NCGC00162039-02
NCGC00162039-03
NCGC00162039-04
NCGC00179597-01
NCIOpen2_001059
NINDS_000815
NSC 341865
NSC341865
NSC83653
OR14310
Oprea1_248648
Pk-Merz
Pk-merz
Prestwick0_000407
Prestwick1_000407
Prestwick2_000407
Prestwick3_000407
SPBio_000002
SPBio_002273
STK298781
Spectrum2_000081
Spectrum3_000291
Spectrum4_000134
Spectrum5_000772
Spectrum_000030
Symadine
Symmetrel
TCMDC-125869
TL8005280
Tricyclo(3.3.1.1(3,7))-decan-1-amine
Tricyclo(3.3.1.1(sup 3,7))decan-1-amine
Tricyclo(3.3.1.1(sup 3.7))decan-1-amine
Tricyclo(3.3.1.13,7)decan-1-amine
Tricyclo[3.3.1.1(3,7)]decan-1-amine
Tricyclo[3.3.1.1(3,7)]decan-1-ylamine
Tricyclo[3.3.1.1(3,7)]decane-1-amine
Tricyclo[3.3.1.1(sup3,7)]decan-1-amine
Tricyclo[3.3.1.1^3,7]decan-1-amine
UNII-BF4C9Z1J53
Viregyt
Virosol
WLN: L66 B6 A B- C 1B ITJ BZ
Wiregyt
adamantan-1-amine
adamantan-1-ylamine
amantadine
amantadine hydrochloride
tricyclo[3.3.1.1(3,7)]decan-1-ylamine
tricyclo[3.3.1.1(3,7)]decane-1-amine
tricyclo[3.3.1.1~3,7~]decan-1-amine
7
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
8
MetforminapprovedPhase 41746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
9Neurotransmitter AgentsPhase 4, Phase 2, Phase 317734
10insulinPhase 44524
11Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 1, Phase 2, Early Phase 122776
12MitogensPhase 41526
13SympatholyticsPhase 4555
14Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 3, Phase 2, Early Phase 112767
15Antiviral AgentsPhase 4, Phase 3, Phase 29732
16Anti-Infective AgentsPhase 4, Phase 3, Phase 221402
17Polyestradiol phosphatePhase 41283
18Insulin, Globin ZincPhase 44523
19HormonesPhase 4, Phase 3, Phase 2, Early Phase 113979
20Adrenergic AgentsPhase 45140
21AnalgesicsPhase 4, Phase 1, Phase 211287
22Adrenergic alpha-AgonistsPhase 41625
23Adrenergic AgonistsPhase 42877
24Adrenergic alpha-2 Receptor AgonistsPhase 4911
25Autonomic AgentsPhase 4, Phase 3, Early Phase 19774
26Antihypertensive AgentsPhase 4, Phase 24095
27Contraceptive AgentsPhase 41901
28Hormone AntagonistsPhase 4, Phase 3, Phase 2, Early Phase 112778
29Estradiol valeratePhase 41283979-32-8
30EstrogensPhase 42470
31Estradiol 17 beta-cypionatePhase 41283
32Estradiol 3-benzoatePhase 41283
33Dopamine Uptake InhibitorsPhase 41305
34Muscarinic AntagonistsPhase 41134
35Neurotransmitter Uptake InhibitorsPhase 43464
36ParasympatholyticsPhase 41050
37Serotonin AgentsPhase 43102
38Hypoglycemic AgentsPhase 4, Phase 35733
39
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
40Psychotropic DrugsPhase 4, Phase 2, Phase 3, Phase 16279
41Serotonin Uptake InhibitorsPhase 41570
42Cytochrome P-450 Enzyme InhibitorsPhase 43822
43Dopamine AgentsPhase 43759
44Antiparkinson AgentsPhase 41527
45Antidepressive AgentsPhase 4, Phase 2, Phase 3, Phase 12666
46Antidepressive Agents, Second-GenerationPhase 41287
47Cytochrome P-450 CYP2D6 InhibitorsPhase 4716
48Cholinergic AntagonistsPhase 41658
49Cholinergic AgentsPhase 4, Phase 2, Phase 33846
50Analgesics, Non-NarcoticPhase 4, Phase 1, Phase 26260

Interventional clinical trials:

(show top 50)    (show all 111)
idNameStatusNCT IDPhase
1Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)Unknown statusNCT01052623Phase 4
2Amantadine for Improving Neurologic Symptoms in Ataxia-TelangiectasiaCompletedNCT00950196Phase 4
3An Objective Double-blind Evaluation of Bupropion and Citalopram in an Individual With Friedreich AtaxiaCompletedNCT01716221Phase 4
4Response of Individuals With Ataxia-Telangiectasia to Metformin and PioglitazoneRecruitingNCT02733679Phase 4
5Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
6Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3CompletedNCT01096082Phase 2, Phase 3
7A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970124Phase 3
8A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970137Phase 3
9An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970111Phase 3
10A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01970098Phase 3
11Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)CompletedNCT00656409Phase 3
12Study to Assess the Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia PatientsCompletedNCT00697073Phase 3
13Safety, Tolerability and Efficacy of ACTIMMUNE® Dose Escalation in Friedreich's AtaxiaCompletedNCT02415127Phase 3
14A Study of Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's Ataxia (FRDA) PatientsCompletedNCT00905268Phase 3
15Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of ConceptCompletedNCT00811681Phase 3
16Long-Term Safety and Tolerability of Idebenone in Friedreich's Ataxia Patients (MICONOS Extension)CompletedNCT00993967Phase 3
17Study to Assess the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Friedreich's AtaxiaCompletedNCT00537680Phase 3
18Patient Reported Outcomes in Friedreich's Ataxia Patients After Withdrawal From Treatment With Idebenone (PROTI)CompletedNCT01303406Phase 3
19Trial in Adult Subjects With Spinocerebellar AtaxiaRecruitingNCT02960893Phase 2, Phase 3
20An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)RecruitingNCT02889302Phase 3
21Safety, Tolerability and Efficacy of ACTIMMUNE Dose Escalation in Friedreich's Ataxia StudyActive, not recruitingNCT02593773Phase 3
22Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
23STEADFAST Long-Term Safety ExtensionEnrolling by invitationNCT02797080Phase 3
24EDS in Ataxia Telangiectasia PatientsNot yet recruitingNCT02770807Phase 3
25Pilot Study of Varenicline (Chantix®) in the Treatment of Friedreich's AtaxiaTerminatedNCT00803868Phase 2, Phase 3
26A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationUnknown statusNCT01489267Phase 2
27The Influence of Deep TMS on Cerebellar Signs in Patients With Machado Joseph DiseaseUnknown statusNCT02039206Phase 2
28Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary AtaxiaUnknown statusNCT01360164Phase 1, Phase 2
29A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA PatientsUnknown statusNCT02035020Phase 2
30Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3CompletedNCT00992771Phase 2
31Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar AtaxiaCompletedNCT01350440Phase 2
32Safety and Tolerability of Lithium in Spinocerebellar Ataxia 2 (SCA2)CompletedNCT00998634Phase 2
33Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT00863538Phase 2
34A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01004016Phase 2
35A Phase II Double Blind Comparative Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)CompletedNCT01384435Phase 2
36Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph DiseaseCompletedNCT02147886Phase 2
37High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
38Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar AtaxiaCompletedNCT00202397Phase 2
39Interferon Gamma-1b in Friedreich Ataxia (FRDA)CompletedNCT01965327Phase 2
40A Study Investigating the Safety and Tolerability of Deferiprone in Patients With Friedreich's AtaxiaCompletedNCT00530127Phase 1, Phase 2
41EPI-743 in Friedreich's Ataxia Point MutationsCompletedNCT01962363Phase 2
42Safety Study of Carbamylated Erythropoietin to Treat Patients With the Neurodegenerative Disorder Friedreich's AtaxiaCompletedNCT01016366Phase 2
43A Study of Resveratrol as Treatment for Friedreich AtaxiaCompletedNCT01339884Phase 1, Phase 2
44A Study Investigating the Long-term Safety and Efficacy of Deferiprone in Patients With Friedreich's AtaxiaCompletedNCT00897221Phase 2
45Efficacy Study of Epoetin Alfa in Friedreich AtaxiaCompletedNCT01493973Phase 2
46Efficacy of Epoetin Alfa in Patients With Friedreich's AtaxiaCompletedNCT00631202Phase 2
47A First in Human Study of RT001 in Patients With Friedreich's AtaxiaCompletedNCT02445794Phase 1, Phase 2
48Idebenone to Treat Friedreich's AtaxiaCompletedNCT00229632Phase 2
49Safety and Efficacy of EPI-743 in Patients With Friedreich's AtaxiaCompletedNCT01728064Phase 2
50Efficacy of EGb761 in Patients Suffering From Friedreich AtaxiaCompletedNCT00824512Phase 2

Search NIH Clinical Center for Autosomal Dominant Cerebellar Ataxia

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: spinocerebellar ataxias

Genetic Tests for Autosomal Dominant Cerebellar Ataxia

About this section

Anatomical Context for Autosomal Dominant Cerebellar Ataxia

About this section

MalaCards organs/tissues related to Autosomal Dominant Cerebellar Ataxia:

36
Testes, Skeletal muscle, Spinal cord, Cerebellum, Brain, Cortex, Eye

Publications for Autosomal Dominant Cerebellar Ataxia

About this section

Articles related to Autosomal Dominant Cerebellar Ataxia:

(show top 50)    (show all 78)
idTitleAuthorsYear
1
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN) Associated With Progressive Cognitive and Behavioral Deterioration. (27869457)
2016
2
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy. (27602171)
2016
3
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. (26456284)
2015
4
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. (24709307)
2014
5
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity? (24787759)
2014
6
IGF-1 in autosomal dominant cerebellar ataxia - open-label trial. (26331037)
2014
7
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. (23331413)
2013
8
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. (21434874)
2012
9
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia. (22491195)
2012
10
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. (22328086)
2012
11
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. (21619691)
2011
12
Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal. (19659750)
2010
13
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. (20725928)
2010
14
Prevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan. (21088341)
2010
15
Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12. (20937954)
2010
16
The chromosome 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA*): A newly identified degenerative ataxia in Japan showing peculiar morphological changes of the Purkinje cell. (20667009)
2010
17
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. (20723845)
2010
18
Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan. (18855094)
2009
19
Chromosome 16q22.1-linked autosomal dominant cerebellar ataxia: an autopsy case report with some new observations on cerebellar pathology. (18627481)
2009
20
Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia. (21686672)
2009
21
Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes]. (19953483)
2009
22
Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. (18769991)
2008
23
The effect of piracetam on ataxia: clinical observations in a group of autosomal dominant cerebellar ataxia patients. (18315783)
2008
24
16q-linked autosomal dominant cerebellar ataxia in a Korean family. (17539927)
2007
25
Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan. (17661799)
2007
26
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. (17611710)
2007
27
Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia. (17702787)
2007
28
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. (16614795)
2006
29
16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. (16780885)
2006
30
On autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA. (16961073)
2006
31
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. (16251216)
2006
32
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. (17030774)
2006
33
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. (16001362)
2005
34
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. (15455264)
2004
35
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. (15306549)
2004
36
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. (15480876)
2004
37
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. (14966163)
2004
38
Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan. (12624721)
2003
39
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. (14694043)
2003
40
Prevalence and ethnic differences of autosomal-dominant cerebellar ataxia in Singapore. (12485197)
2002
41
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. (12384780)
2002
42
Ocular motility in genetically defined autosomal dominant cerebellar ataxia. (11992880)
2002
43
Autosomal dominant cerebellar ataxia type 1 in a Sudanese family. (23978915)
2002
44
Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias. (12427879)
2002
45
Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6. (11448300)
2001
46
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. (11571212)
2001
47
Spinocerebellar ataxia type 7: a distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation. (11168877)
2001
48
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. (11198281)
2001
49
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia. (11284128)
2001
50
A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan. (11322654)
2001

Variations for Autosomal Dominant Cerebellar Ataxia

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Clinvar genetic disease variations for Autosomal Dominant Cerebellar Ataxia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PLNNM_002667.4(PLN): c.116T> G (p.Leu39Ter)SNVLikely pathogenic, Pathogenicrs111033560GRCh37Chr 6, 118880200: 118880200
2DSPNM_004415.3(DSP): c.2821C> T (p.Arg941Ter)SNVLikely pathogenic, Pathogenicrs730880082GRCh38Chr 6, 7576986: 7576986

Expression for genes affiliated with Autosomal Dominant Cerebellar Ataxia

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Search GEO for disease gene expression data for Autosomal Dominant Cerebellar Ataxia.

Pathways for genes affiliated with Autosomal Dominant Cerebellar Ataxia

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GO Terms for genes affiliated with Autosomal Dominant Cerebellar Ataxia

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Cellular components related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear inclusion bodyGO:004240510.6ATXN1, ATXN3
2nuclear matrixGO:001636310.0ATN1, ATXN1, ATXN3, ATXN7
3perinuclear region of cytoplasmGO:00484718.5ATN1, ATXN10, ATXN2, PRKCG, SPTBN2

Biological processes related to Autosomal Dominant Cerebellar Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to painGO:004826510.1CACNA1A, PRKCG

Sources for Autosomal Dominant Cerebellar Ataxia

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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