MCID: HRD026
MIFTS: 46

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 33 22 46
Hereditary Ataxias 23 25
Ataxias, Hereditary 66
 
Ataxias Hereditary 48
Cardiac Arrest 66
Sca 23

Classifications:



External Ids:

ICD1028 G11

Summaries for Hereditary Ataxia

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MalaCards based summary: Hereditary Ataxia, also known as hereditary ataxias, is related to spinocerebellar ataxia 7 and hereditary spastic paraplegia, and has symptoms including ataxia, ataxia and cerebellar ataxia. An important gene associated with Hereditary Ataxia is DSP (Desmoplakin), and among its related pathways is Chks in Checkpoint Regulation. The drugs epinephrine hydrochloride and atropine have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and bone marrow, and related mouse phenotypes are mortality/aging and muscle.

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 225)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 731.3ATXN2, ATXN7
2hereditary spastic paraplegia26.2AFG3L2, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
3x-linked hereditary ataxia11.9
4machado-joseph disease10.8
5ataxia10.7
6ataxia-telangiectasia10.5
7friedreich ataxia10.4
8spasticity10.1
9basilar impression, primary10.1ATXN1, ATXN3
10paraplegia10.1
11episodic ataxia, type 810.0
12spinocerebellar ataxia 3710.0
13episodic ataxia, type 310.0
14spinocerebellar ataxia 2510.0
15episodic ataxia, type 510.0
16episodic ataxia, type 610.0
17spinocerebellar ataxia 110.0
18spinocerebellar ataxia 3810.0
19spinocerebellar ataxia 1710.0
20spinocerebellar ataxia 1810.0
21spinocerebellar ataxia 3210.0
22cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.0
23ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia10.0
24dentatorubro-pallidoluysian atrophy10.0
25episodic ataxia/myokymia syndrome10.0
26spinocerebellar ataxia 2710.0
27spinocerebellar ataxia 4010.0
28spinocerebellar ataxia 1110.0
29mast syndrome10.0
30mitochondrial recessive ataxia syndrome10.0
31spinocerebellar ataxia 3110.0
32boucher-neuhauser syndrome10.0
33episodic ataxia, type 210.0
34episodic ataxia, type 710.0
35spinocerebellar ataxia 3610.0
36spinocerebellar ataxia 3510.0
37cerebellar ataxia and hypogonadotropic hypogonadism10.0
38spinocerebellar ataxia with dysmorphism10.0
39spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia10.0
40episodic ataxia, type 410.0
41autosomal recessive ataxia due to pex10 deficiency10.0
42machado-joseph disease type 110.0
43machado-joseph disease type 310.0
44machado-joseph disease type 210.0
45autosomal recessive cerebellar ataxia with late-onset spasticity10.0
46osteopathia striata with cranial sclerosis10.0ATXN1, ATXN3, ATXN7
47muscular dystrophy, limb-girdle, type 2c10.0FXN, TTPA
48autosomal dominant cerebellar ataxia9.9
49lennox-gastaut syndrome9.9FXN, TTPA
50neuropathy9.9

Comorbidity relations with Hereditary Ataxia via Phenotypic Disease Network (PDN):

(show all 29)
Hypertension, EssentialCoronary Artery Disease
Peripheral Vascular DiseaseDeficiency Anemia
Pulmonary HypertensionAcute Kidney Failure
Acute Myocardial InfarctionChronic Kidney Failure
Ischemic Heart DiseaseFamilial Atrial Fibrillation
First-Degree Atrioventricular BlockThird-Degree Atrioventricular Block
Sinoatrial Node DiseaseTricuspid Valve Disease
Heart Conduction DiseaseRespiratory Failure
Disseminated Intravascular CoagulationHeart Disease
Protein-Energy MalnutritionAcute Cystitis
Generalized AtherosclerosisPrimary Hyperoxaluria
Mitral Valve DiseaseBronchitis
Active Peptic Ulcer DiseaseDecubitus Ulcer
Intermediate Coronary SyndromeLeft Ventricular Outflow Tract Obstruction
Cardiogenic Shock

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



Diseases related to hereditary ataxia

Symptoms for Hereditary Ataxia

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UMLS symptoms related to Hereditary Ataxia:


ataxia, cerebellar ataxia, chest pain

Drugs & Therapeutics for Hereditary Ataxia

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RiluzolePhase 2, Phase 3611744-22-55070
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 [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
CysteaminePhase 2, Phase 32660-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
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
3UbiquinonePhase 2, Phase 1132
4
VareniclinePhase 2263249296-44-45310966
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
5
DantrolenePhase 1, Phase 257261-97-42952, 6914273
Synonyms:
1-(((5-(4-Nitrophenyl)-2-furanyl)methylene)amino)-2,4-imidazolidinedione
1-((5-(p-Nitrophenyl)furfurylidene)amino)hydantoin
1-({(1E)-[5-(4-nitrophenyl)furan-2-yl]methylidene}amino)imidazolidine-2,4-dione
1-({[5-(4-nitrophenyl)furan-2-yl]methylidene}amino)imidazolidine-2,4-dione
1-[(E)-[5-(4-nitrophenyl)furan-2-yl]methylideneamino]imidazolidine-2,4-dione
7261-97-4
AC1OC9NE
BCBcMAP01_000067
BIDD:GT0187
BPBio1_000246
BRD-K81272440-001-02-6
BRD-K81272440-236-05-1
BRN 0705189
BSPBio_000222
BSPBio_001305
BSPBio_003074
C06939
C14H10N4O5
CHEBI:4317
CHEMBL1201288
CID6914273
D02347
DANTROLENE SODIUM
DB01219
Dantamacrin
Dantrium
Dantrium Intravenous
 
Dantrolene
Dantrolene (USAN/INN)
Dantrolene [USAN:BAN:INN]
Dantroleno
Dantroleno [INN-Spanish]
Dantrolenum
Dantrolenum [INN-Latin]
EINECS 230-684-8
F-368
HMS1361B07
HMS1791B07
HMS1989B07
HSDB 3050
IDI1_000898
IDI1_033775
LS-76264
Lopac0_000424
MolPort-006-389-324
NCGC00163132-01
NCGC00163402-01
NCGC00163402-02
Prestwick2_000291
Prestwick3_000291
Spectrum5_001752
UNII-F64QU97QCR
ZINC26894874
dantrolene
nchembio.368-comp3
6Lithium carbonatePhase 1222554-13-2
7idebenonePhase 12158186-27-9
8Dopamine agonists611
9
Dopamine367851-61-6, 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
10
vitamin eNutraceutical39259-02-914985
Synonyms:
(+)-a-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)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
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
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
11
Vitamin ANutraceutical45011103-57-4, 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
(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 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
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 A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
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
12retinolNutraceutical450
13TocopherolNutraceutical395
14TocotrienolNutraceutical391

Interventional clinical trials:

(show all 29)
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
8A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram SyndromeRecruitingNCT02829268Phase 1, Phase 2
9EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
10A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationEnrolling by invitationNCT01489267Phase 2
11A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
12Safety Study of Idebenone to Treat Friedreich's AtaxiaCompletedNCT00015808Phase 1
13Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
14Lithium Treatment for Patients With Spinocerebellar Ataxia Type ICompletedNCT00683943Phase 1
15Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)CompletedNCT00004306
16Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar AtaxiaCompletedNCT02103075
17Parkinsonism in Spinocerebellar Ataxia Type 6CompletedNCT01934998
18Vitamin Replacement in AbetalipoproteinemiaCompletedNCT00004574
19Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
20Phenotype/Genotype Correlations in Movement DisordersRecruitingNCT00018889
21Pancreatic Cancer Screening of High-Risk Individuals in ArkansasRecruitingNCT02309632
22Study of Inherited Neurological DisordersRecruitingNCT00004568
23Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274
24Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
25A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)RecruitingNCT02840669
26Emotional Communication Disorders in Cerebellar DiseaseRecruitingNCT02106819
27The EUROSCA Natural History StudyRecruitingNCT02440763
28Wolfram Syndrome International Registry and Clinical StudyRecruitingNCT02841553
29RISCA : 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 UMLS66/NDF-RT44:

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 Ataxia25
2 Hereditary Ataxias23

Anatomical Context for Hereditary Ataxia

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MalaCards organs/tissues related to Hereditary Ataxia:

34
Bone, Cortex, Bone marrow, Testes, Brain, Eye, Tongue

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.3AFG3L2, ATXN1, ATXN2, ATXN7, CACNA1A, DSP
2MP:00053697.2AFG3L2, ATXN1, ATXN7, CACNA1A, DSP, FXN
3MP:00053786.9AFG3L2, ATXN1, ATXN2, ATXN7, CACNA1A, DSP
4MP:00053866.4AFG3L2, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
5MP:00036316.0AFG3L2, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

Publications for Hereditary Ataxia

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Articles related to Hereditary Ataxia:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. (26564018)
2015
2
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. (24516392)
2014
3
Hereditary ataxia in Jack Russell terriers in the UK. (24736825)
2014
4
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. (25348587)
2014
5
Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. (24209901)
2014
6
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
7
Autosomal dominant hereditary ataxia in Sri Lanka. (23634774)
2013
8
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. (23609960)
2013
9
Hereditary ataxia in Jack Russell terriers in the UK. (22634896)
2012
10
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. (19339254)
2009
11
Suppression of saccadic intrusions in hereditary ataxia by memantine. (18316692)
2008
12
Cognition in hereditary ataxia. (17786824)
2007
13
Mapping cerebral blood flow during speech production in hereditary ataxia. (16443374)
2006
14
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. (16935573)
2006
15
SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. (16311960)
2005
16
Hereditary ataxia and behavior. (16383226)
2005
17
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study. (15586270)
2005
18
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. (11563629)
2001
19
Hereditary ataxia. An unfolded protein. (11784584)
2001
20
Genes involved in hereditary ataxias. (9735950)
1998
21
The hereditary ataxias. (9630233)
1998
22
The genetic basis of hereditary ataxia. (9193167)
1997
23
Grafted cerebellar cells in a mouse model of hereditary ataxia express IGF-I system genes and partially restore behavioral function. (8564845)
1996
24
Hereditary Ataxia Overview (20301317)
1993
25
Hereditary ataxia. (2564162)
1989
26
Linkage analysis in spinopontine atrophy: correlation of HLA linkage with phenotypic findings in hereditary ataxia. (3477098)
1987
27
Lecithin in hereditary ataxia. (7193833)
1981
28
Retraction: reduced enzyme activity in hereditary ataxia. (7023353)
1981
29
Linkage investigations in two families with hereditary ataxia. (7276965)
1981
30
Hereditary ataxia and the sixth chromosome. (6937161)
1981
31
Hereditary ataxia in a large Danish pedigree. (7398110)
1980
32
Hereditary ataxia. (Indigenous variety). (731064)
1978
33
Protein patterns of cerebrospinal fluid in hereditary ataxias and hereditary spastic paraplegia. (49401)
1975
34
Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma. (1130171)
1975
35
Titubation in hereditary ataxia. (4821687)
1974
36
Letter: Hereditary ataxia and HL-A. (4833925)
1974
37
Failure to vomit in hereditary ataxia. Report of a family. (4736490)
1973
38
Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. (5061839)
1972
39
Glucose 14C metabolism in rabbit hereditary ataxia. (5435666)
1970
40
Hereditary ataxia, presumed to be of the Menzel type, complicated by paranoid psychosis, in a mother and two sons. (5783297)
1969
41
Glycogen and glycolytic intermediates in rabbit hereditary ataxia. (6022138)
1967
42
Inositide metabolism in rabbit hereditary ataxia. (4293372)
1967
43
Carbohydrate metabolites in rabbit hereditary ataxia. (5912009)
1966
44
Hereditary ataxia of rabbits. Histopathological alterations. (14480890)
1962
45
Hereditary ataxia. Linkage studies in hereditary ataxia. (13768204)
1961
46
Hereditary ataxia. (13878865)
1961
47
Hereditary ataxia with optic atrophy of the retrobulbar neuritis type, and latent pallido-luysian degeneration. (15401753)
1949
48
On a possible relationship between hereditary ataxia and peroneal muscular atrophy; with a critical review of the problems of intermediate forms in the degenerative disorders of the central nervous system. (18114340)
1948
49
A typical hereditary ataxia. (21007895)
1945
50
A Case of Friedreich's Hereditary Ataxia: With Necropsy. (20758583)
1899

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, Pathogenicrs730880082GRCh38Chr 6, 7576986: 7576986

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

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
1nuclear inclusion bodyGO:004240510.1ATXN1, ATXN3
2nuclear matrixGO:00163639.2ATXN1, ATXN3, ATXN7

Biological processes related to Hereditary Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament cytoskeleton organizationGO:004510410.1ATXN3, DSP
2microtubule cytoskeleton organizationGO:00002269.6ATXN3, ATXN7
3adult walking behaviorGO:00076289.5CACNA1A, FXN
4mitochondrion organizationGO:00070059.5AFG3L2, FXN

Molecular functions related to Hereditary Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.1AFG3L2, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

Sources for Hereditary Ataxia

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