MCID: HRD026
MIFTS: 39

Hereditary Ataxia malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Hereditary Ataxia

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Aliases & Descriptions for Hereditary Ataxia:

Name: Hereditary Ataxia 32 21 45
Ataxias Hereditary 47 24
Ataxias, Hereditary 65
 
Hereditary Ataxias 22
Cardiac Arrest 65
Sca 22

Classifications:



External Ids:

ICD1027 G11
UMLS65 C0004138

Summaries for Hereditary Ataxia

About this section
MalaCards based summary: Hereditary Ataxia, also known as ataxias hereditary, is related to spinocerebellar ataxia 7 and spinocerebellar ataxia 23. An important gene associated with Hereditary Ataxia is FXN (Frataxin), and among its related pathways are Chks in Checkpoint Regulation and Akt Signaling. The drugs sodium bicarbonate and sodium bicarbonate powder have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and bone marrow, and related mouse phenotypes are behavior/neurological and growth/size/body region.

GeneReviews summary for NBK1138

Related Diseases for Hereditary Ataxia

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Diseases in the Ataxia family:

hereditary ataxia

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

(show top 50)    (show all 294)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 732.4ATXN2, ATXN7
2spinocerebellar ataxia 2330.5ATXN2, PPP2R2B
3hereditary hemorrhagic telangiectasia26.8ATN1, ATXN1, ATXN2, ATXN3, ATXN7, DSP
4x-linked hereditary ataxia12.2
5machado-joseph disease10.9
6fragile x-associated tremor/ataxia syndrome10.8
7cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.5
8spinocerebellar ataxia 3710.4
9episodic ataxia, type 310.4
10spinocerebellar ataxia 2510.4
11episodic ataxia, type 510.4
12episodic ataxia, type 610.4
13spinocerebellar ataxia 110.4
14spinocerebellar ataxia 3810.4
15spinocerebellar ataxia 1710.4
16spinocerebellar ataxia 1810.4
17spinocerebellar ataxia 3210.4
18ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.4
19ataxia-telangiectasia10.4
20episodic ataxia/myokymia syndrome10.4
21spinocerebellar ataxia 2710.4
22spinocerebellar ataxia 4010.4
23spinocerebellar ataxia 1110.4
24mast syndrome10.4
25mitochondrial recessive ataxia syndrome10.4
26spinocerebellar ataxia 3110.4
27episodic ataxia, type 210.4
28episodic ataxia, type 710.4
29spinocerebellar ataxia 3610.4
30spinocerebellar ataxia 3510.4
31cerebellar ataxia and hypogonadotropic hypogonadism10.4
32hereditary spastic paraplegia10.4
33episodic ataxia type 410.4
34ataxia - hypogonadism - choroidal dystrophy10.4
35spinocerebellar ataxia with dysmorphism10.4
36autosomal recessive ataxia due to pex10 deficiency10.4
37spastic ataxia-corneal dystrophy syndrome10.4
38machado-joseph disease type 110.4
39machado-joseph disease type 310.4
40machado-joseph disease type 210.4
41autosomal recessive cerebellar ataxia with late-onset spasticity10.4
42episodic ataxia with slurred speech10.4
43neuropathy ataxia retinitis pigmentosa syndrome10.2ATXN1, ATXN3
44spinocerebellar ataxia 2110.2
45spastic paraplegia 29, autosomal dominant10.2
46spastic paraplegia 6310.2
47spastic paraplegia 2310.2
48ataxia, posterior column, with retinitis pigmentosa10.2
49coenzyme q10 deficiency, primary, 410.2
50spastic paraplegia 13, autosomal dominant10.2

Graphical network of the top 20 diseases related to Hereditary Ataxia:



Diseases related to hereditary ataxia

Symptoms for Hereditary Ataxia

About this section

Drugs & Therapeutics for Hereditary Ataxia

About this section

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

(show all 41)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Riluzoleapproved, investigationalPhase 2, Phase 3591744-22-55070
Synonyms:
1744-22-5
2-Amino-6-(trifluoromethoxy)-benzothiazole
2-Amino-6-(trifluoromethoxy)benzothiazole
2-Amino-6-trifluoro- methoxybenzothiazole
2-amino-6-(trifluoromethoxy)-1,3-benzothiazole
2-amino-6-(trifluoromethoxy)benzo[d]thiazole
2-amino-6-(trifluoromethoxyl)benzothiazole
2-amino-6-trifluoromethoxybenzothiazole
6-(trifluoromethoxy)-1,3-benzothiazol-2-amine
6-(trifluoromethoxy)benzo[d]thiazol-2-amine
6-Trifluoromethoxy-benzothiazol-2-ylamine
6-trifluoromethoxybenzothiazole-2-yl-amine
AC-730
AC1L1JJL
AC1Q530H
AKOS000265071
ALBB-006046
Amino-2 trifluoromethoxy-6 benzothiazole
Amino-2 trifluoromethoxy-6 benzothiazole [French]
BB_SC-4839
BF-37
BIDD:GT0055
BPBio1_000037
BPBio1_000837
BRD-K21283037-001-02-5
BRD-K21283037-003-03-9
BSPBio_000033
Bio1_000416
Bio1_000905
Bio1_001394
Biomol-NT_000245
C07937
C8H5F3N2OS
CHEMBL744
CID5070
D00775
DB00740
EU-0101064
FT-0082997
HMS1773G08
HMS2089O19
HMS2094G07
I01-2084
LS-40688
 
Lopac-R-116
Lopac0_001064
MLS000069369
MolPort-000-151-262
NCGC00015882-01
NCGC00015882-02
NCGC00015882-03
NCGC00015882-07
NCGC00015882-11
NCGC00023141-02
NCGC00023141-04
NCGC00023141-05
NCGC00023141-06
PK-26124
PK-26124, RP-54274, Rilutek, Riluzole
Prestwick-03A08
Prestwick0_000167
Prestwick1_000167
Prestwick2_000167
Prestwick3_000167
R-116
R116_SIGMA
RP 54274
RP-54274
Rilutek
Rilutek (TN)
Riluzol
Riluzol [INN-Spanish]
Riluzole
Riluzole (JAN/USAN/INN)
Riluzole HCl
Riluzole Hydrochloride
Riluzole [USAN:INN]
Riluzolum
Riluzolum [INN-Latin]
S1614_Selleck
SMR000058231
SPBio_000599
SPBio_001954
STK503686
Spectrum2_000550
Tocris-0768
UNII-7LJ087RS6F
ZERO/001785
ZINC00006481
riluzole
2
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
3Immunologic FactorsPhase 3, Phase 218483
4VaccinesPhase 36085
5AnticonvulsantsPhase 2, Phase 32249
6Heptavalent Pneumococcal Conjugate VaccinePhase 3440
7Protective AgentsPhase 2, Phase 3, Phase 15651
8Excitatory Amino Acid AntagonistsPhase 2, Phase 31095
9Neuroprotective AgentsPhase 2, Phase 31376
10Excitatory Amino AcidsPhase 2, Phase 31109
11Neurotransmitter AgentsPhase 2, Phase 314795
12
Vareniclineapproved, investigationalPhase 2255249296-44-45310966
Synonyms:
249296-44-4
7,8,9,10-Tetrahydro-6,10-methano-6H-pyrazino(2,3-h)(3)benzazepine
7,8,9,10-tetrahydro-6h-6,10-methanoazepino[4,5-g]quinoxaline
AC1L55H0
AC1Q4W6H
AKOS005145561
AR-1H2911
CHEBI:430452
CHEMBL1396
CID170361
CP 526555
 
CP-526,555
Champix
Chantix
D08669
HSDB 7591
I14-1963
LS-187375
UNII-W6HS99O8ZO
Varenicline
Varenicline (INN)
Varenicline tartrate
varenicline
13Immunoglobulins, IntravenousPhase 2211
14Rho(D) Immune GlobulinPhase 2206
15ImmunoglobulinsPhase 24477
16Calcium, DietaryPhase 24678
17AntibodiesPhase 24477
18Cholinergic AgentsPhase 23243
19Nicotinic AgonistsPhase 2701
20Lithium CarbonatePhase 1211
21Psychotropic DrugsPhase 15501
22Tranquilizing AgentsPhase 13597
23Central Nervous System DepressantsPhase 110016
24idebenonePhase 119
25AntioxidantsPhase 12442
26Antidepressive AgentsPhase 12367
27Antimanic AgentsPhase 1663
28
Dopamineapproved308462-31-7, 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
29
Vitamin Aapproved, nutraceutical41311103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
30
Vitamin Eapproved, nutraceutical37159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
31Tocotrienols372
32Vitamins3857
33Tocopherols376
34Trace Elements3900
35Retinol palmitate413
36Dopamine Agonists544
37Dopamine Agents3084
38Micronutrients3901
39retinolNutraceutical413
40TocopherolNutraceutical376
41TocotrienolNutraceutical372

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1Efficacy of Riluzole in Hereditary Cerebellar AtaxiaCompletedNCT01104649Phase 2, Phase 3
2Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT)CompletedNCT00656409Phase 3
3Open-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
4Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar AtaxiaCompletedNCT00202397Phase 2
5Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3CompletedNCT00992771Phase 2
6High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
7Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary AtaxiaRecruitingNCT01360164Phase 1, Phase 2
8EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
9A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationEnrolling by invitationNCT01489267Phase 2
10A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
11Safety Study of Idebenone to Treat Friedreich's AtaxiaCompletedNCT00015808Phase 1
12Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
13Lithium Treatment for Patients With Spinocerebellar Ataxia Type ICompletedNCT00683943Phase 1
14Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)CompletedNCT00004306
15Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar AtaxiaCompletedNCT02103075
16Parkinsonism in Spinocerebellar Ataxia Type 6CompletedNCT01934998
17Vitamin Replacement in AbetalipoproteinemiaCompletedNCT00004574
18Phenotype/Genotype Correlations in Movement DisordersRecruitingNCT00018889
19Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
20Study of Inherited Neurological DisordersRecruitingNCT00004568
21Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274
22Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
23Emotional Communication Disorders in Cerebellar DiseaseRecruitingNCT02106819
24The EUROSCA Natural History StudyRecruitingNCT02440763
25RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Active, not recruitingNCT01037777

Search NIH Clinical Center for Hereditary Ataxia

Inferred drug relations via UMLS65/NDF-RT43:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hereditary Ataxia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hereditary Ataxia:
NU211-01/NU215-02, human umbilical cord mesenchymal stem cells for hereditary ataxia
Embryonic/Adult Cultured Cells Related to Hereditary Ataxia:
Umbilical cord blood-derived mononuclear cells, PMIDs: 20682053, 21575250, 23151076
Umbilical cord-derived mesenchymal stem cells, PMIDs: 20682053, 21575250, 23151076

Genetic Tests for Hereditary Ataxia

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Genetic tests related to Hereditary Ataxia:

id Genetic test Affiliating Genes
1 Hereditary Ataxias22

Anatomical Context for Hereditary Ataxia

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MalaCards organs/tissues related to Hereditary Ataxia:

33
Bone, Cortex, Bone marrow, Endothelial, Brain, Breast, Adipocyte

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hereditary Ataxia:
id TissueAnatomical CompartmentCell Relevance
1 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate

Animal Models for Hereditary Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Hereditary Ataxia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.5ATN1, ATXN1, ATXN2, ATXN3, ATXN7, FXN
2MP:00053787.1ATN1, ATXN1, ATXN2, ATXN7, DSP, FXN
3MP:00107686.8ATN1, ATXN1, ATXN2, ATXN7, DSP, FXN
4MP:00036316.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, DSP

Publications for Hereditary Ataxia

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Articles related to Hereditary Ataxia:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
MLL fusion-driven activation of CDK6 potentiates proliferation in MLL-rearranged infant ALL. (24736461)
2014
2
ERG and CHD1 heterogeneity in prostate cancer: use of confocal microscopy in assessment of microscopic foci. (25175909)
2014
3
Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations. (25205014)
2014
4
Diagnostic evaluation of hepatopulmonary syndrome in Egyptian children with chronic liver disease. (24961015)
2014
5
Immune responsive gene 1 (IRG1) promotes endotoxin tolerance by increasing A20 expression in macrophages through ROS. (23609450)
2013
6
Abdominal pain after minor trauma in a patient with Crohn's disease. (24079002)
2013
7
Obesity and vascular disease: From bench to bedside. (24029862)
2013
8
ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure. (23303482)
2013
9
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. (23239986)
2012
10
Interrupted aortic arch associated with aortopulmonary window in a 20A year-old young adult. (19545919)
2011
11
MDM2 and CDKN1A gene polymorphisms and risk of Kaposi's sarcoma in African and Caucasian patients. (20979563)
2011
12
Long-term follow-up of gastric lymphoma after stomach conserving treatment. (20206110)
2010
13
Biochemical properties of renin and prorenin binding to the (pro)renin receptor. (19942927)
2010
14
Ultrasound protocols to measure carotid intima-media thickness in trials; comparison of reproducibility, rate of progression, and effect of intervention in subjects with familial hypercholesterolemia and subjects with mixed dyslipidemia. (20645885)
2010
15
Analyses of the recycling receptor, FcRn, in live cells reveal novel pathways for lysosomal delivery. (19192244)
2009
16
Intralesional injection of cidofovir for recurrent respiratory papillomatosis in children. (19193450)
2009
17
Combination targeted therapy with sorafenib and bevacizumab results in enhanced toxicity and antitumor activity. (18669456)
2008
18
Necrotizing fasciitis as the clinical presentation of a retroperitoneal abscess. (17976803)
2008
19
Double-blind, placebo-controlled, multicenter trial of a vasopressin V2-receptor antagonist in patients with schizophrenia and hyponatremia. (18692175)
2008
20
Brain metastases as primary manifestation of a melanocytic malignant peripheral nerve sheath tumor in a 60-year-old man. (17227576)
2007
21
A validation study of a scoring system to estimate the risk of lymph node metastasis for patients with endometrial cancer for tailoring the indication of lymphadenectomy. (17097721)
2007
22
Genetic factors associated with skin cancer in renal transplant patients. (17523926)
2007
23
Activation of the nuclear transcription factor SP-1 by insulin rapidly increases the expression of protein kinase C delta in skeletal muscle. (17046201)
2007
24
Dexamethasone alters vascular reactivity by enhancing COX-related vasodilatation in fetal ovine carotids. (16352870)
2006
25
Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina). (16556301)
2006
26
Mesenteric inflammatory myofibroblastic tumor mimicking a necrotized malignant mass in an adult: case report with MR findings. (15791485)
2005
27
Description and characterization of a chamber for viewing and quantifying cancer cell chemotaxis. (16025469)
2005
28
Periocular keratoacanthoma: can we always rely on the clinical diagnosis? (16113382)
2005
29
Inhibitory effect of statins on the proliferation of human breast cancer cells. (15624286)
2004
30
Elevated transcript level of hyaluronan synthase1 gene correlates with poor prognosis of human colon cancer. (15065603)
2004
31
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. (12707077)
2003
32
Abnormal pentagastrin response in a patient with pseudohypoparathyroidism. (12605352)
2003
33
Leptin and ghrelin levels in patients with obstructive sleep apnoea: effect of CPAP treatment. (12952256)
2003
34
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency. (12408185)
2002
35
bc10: A novel human bladder cancer-associated protein with a conserved genomic structure downregulated in invasive cancer. (11920613)
2002
36
Glycerol restores p53-dependent radiosensitivity of human head and neck cancer cells bearing mutant p53. (11104574)
2000
37
Identification and functions of new transporters in yeast mitochondria. (11004452)
2000
38
Stabilization of Xist RNA mediates initiation of X chromosome inactivation. (9335338)
1997
39
Case report: pseudotumoral pelvic retroperitoneal fibrosis associated with orbital fibrosis. (7795980)
1995
40
In vitro effect of dexamethasone, pentoxifylline, and anti-endotoxin monoclonal antibody on the release of proinflammatory mediators by human leukocytes stimulated with Haemophilus influenzae type B. (7936825)
1994
41
Unusual case of corticobasal degeneration with tau/Gallyas-positive neuronal and glial tangles. (7879609)
1994
42
Clinical and laboratorial features of visceral toxocariasis in infancy. (7527930)
1994
43
Thalamic hyperdensity--is it a diagnostic marker for Sandhoff disease? (8279657)
1993
44
Allergic reaction to latex: a risk factor for unsuspected anaphylaxis. (2060787)
1991
45
Effects of chronic cocaine abuse on postsynaptic dopamine receptors. (2343913)
1990
46
High activities of erythrocyte glutathione peroxidase in patients with the Lesch-Nyhan syndrome. (3239456)
1988
47
Expectant management of partial placental abruption in previable pregnancies. A report of two cases. (3316649)
1987
48
Quantitative relations between exposure to respirable coalmine dust and coalworkers' simple pneumoconiosis in men who have worked as miners but have left the coal industry. (3947559)
1986
49
The interaction of hereditary persistence of fetal hemoglobin and beta thalassemia. (5923089)
1966
50
Colonic and rectal disease in the young adult. (13975128)
1962

Variations for Hereditary Ataxia

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Clinvar genetic disease variations for Hereditary Ataxia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_002667.4(PLN): c.116T> G (p.Leu39Ter)single nucleotide variantLikely pathogenic, Pathogenicrs111033560GRCh37Chr 6, 118880200: 118880200
2DSPNM_004415.3(DSP): c.2821C> T (p.Arg941Ter)single nucleotide variantLikely pathogenic, Pathogenicrs730880082GRCh37Chr 6, 7577219: 7577219

Expression for genes affiliated with Hereditary Ataxia

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Search GEO for disease gene expression data for Hereditary Ataxia.

Pathways for genes affiliated with Hereditary Ataxia

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Pathways related to Hereditary Ataxia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.8ATXN1, ATXN2, ATXN3, ATXN7
2
Show member pathways
8.4ATXN1, ATXN2, ATXN3, ATXN7, PPP2R2B

GO Terms for genes affiliated with Hereditary Ataxia

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Cellular components related to Hereditary Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057377.4ATN1, ATXN1, ATXN2, ATXN7, DSP, TBP

Sources for Hereditary Ataxia

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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