MCID: HRD026
MIFTS: 47

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 35 23 48
Hereditary Ataxias 24 27
Ataxias, Hereditary 68
 
Ataxias Hereditary 50
Cardiac Arrest 68
Sca 24

Classifications:



External Ids:

ICD1030 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 chest pain, cerebellar ataxia and cerebellar ataxia. 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 calcium gluconate pwdr and epinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and bone marrow, and related mouse phenotypes are muscle and growth/size/body region.

GeneReviews 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 236)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 731.5ATXN2, ATXN7
2hereditary spastic paraplegia28.4ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A, DSP
3x-linked hereditary ataxia11.7
4machado-joseph disease11.2
5fragile x-associated tremor/ataxia syndrome10.7
6autosomal recessive cerebellar ataxia10.7
7autosomal dominant cerebellar ataxia10.7
8episodic ataxia10.7
9ataxia10.6
10ataxia-telangiectasia10.3
11friedreich ataxia10.2
12basilar impression, primary10.2ATXN1, ATXN3
13spasticity10.0
14ichthyosis prematurity syndrome10.0ATXN1, FXN
15paraplegia10.0
16bleeding disorder, platelet-type, 199.9CACNA1A, FXN
17osteopathia striata with cranial sclerosis9.9ATXN1, ATXN3, ATXN7
18hypogonadotropic hypogonadism 3 with or without anosmia9.9ATXN2, PPP2R2B
19episodic ataxia, type 89.8
20spinocerebellar ataxia 379.8
21episodic ataxia, type 39.8
22spinocerebellar ataxia 259.8
23episodic ataxia, type 59.8
24episodic ataxia, type 69.8
25spinocerebellar ataxia 19.8
26spinocerebellar ataxia 389.8
27spinocerebellar ataxia 179.8
28spinocerebellar ataxia 189.8
29spinocerebellar ataxia 329.8
30cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 19.8
31ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia9.8
32spastic paraplegia 9a, autosomal dominant9.8
33dentatorubro-pallidoluysian atrophy9.8
34episodic ataxia/myokymia syndrome9.8
35spinocerebellar ataxia 279.8
36spinocerebellar ataxia 409.8
37spinocerebellar ataxia 119.8
38mast syndrome9.8
39mitochondrial recessive ataxia syndrome9.8
40spinocerebellar ataxia 319.8
41ataxia, cerebellar, cayman type9.8
42boucher-neuhauser syndrome9.8
43episodic ataxia, type 29.8
44episodic ataxia, type 79.8
45spinocerebellar ataxia 369.8
46spinocerebellar ataxia 359.8
47cerebellar ataxia and hypogonadotropic hypogonadism9.8
48spinocerebellar ataxia with dysmorphism9.8
49spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia9.8
50episodic ataxia, type 49.8

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

(show all 29)
Acute Myocardial InfarctionCoronary Artery Disease
Deficiency AnemiaDisseminated Intravascular Coagulation
Familial Atrial FibrillationFirst-Degree Atrioventricular Block
Heart Conduction DiseaseActive Peptic Ulcer Disease
Acute CystitisAcute Kidney Failure
BronchitisCardiogenic Shock
Chronic Kidney FailureDecubitus Ulcer
Generalized AtherosclerosisHeart Disease
Peripheral Vascular DiseasePrimary Hyperoxaluria
Respiratory FailureSinoatrial Node Disease
Hypertension, EssentialIntermediate Coronary Syndrome
Ischemic Heart DiseaseLeft Ventricular Outflow Tract Obstruction
Mitral Valve DiseaseProtein-Energy Malnutrition
Pulmonary HypertensionThird-Degree Atrioventricular Block
Tricuspid Valve Disease

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



Diseases related to hereditary ataxia

Symptoms & Phenotypes for Hereditary Ataxia

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UMLS symptoms related to Hereditary Ataxia:


chest pain, cerebellar ataxia, ataxia

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2ATXN1, ATXN7, CACNA1A, DSP, FXN
2MP:00053788.1ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, DSP
3MP:00107688.0ATN1, ATXN1, ATXN2, ATXN7, CACNA1A, DSP
4MP:00053868.0ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A
5MP:00053767.8ATN1, ATXN1, ATXN2, ATXN3, CACNA1A, FXN
6MP:00036316.6ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

Drugs & Therapeutics for Hereditary Ataxia

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

(show all 45)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Riluzoleapproved, investigationalPhase 2, Phase 3631744-22-55070
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
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
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
3AnticonvulsantsPhase 2, Phase 32620
4VaccinesPhase 36428
5Protective AgentsPhase 2, Phase 3, Phase 17190
6Heptavalent Pneumococcal Conjugate VaccinePhase 3454
7Excitatory Amino Acid AntagonistsPhase 2, Phase 31282
8Neurotransmitter AgentsPhase 2, Phase 317734
9Excitatory Amino AcidsPhase 2, Phase 31297
10Neuroprotective AgentsPhase 2, Phase 31672
11
Vareniclineapproved, investigationalPhase 2269249296-44-45310966
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
12
DantroleneapprovedPhase 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
13Rho(D) Immune GlobulinPhase 2317
14UbiquinonePhase 2, Phase 1139
15Immunoglobulins, IntravenousPhase 2324
16Trace ElementsPhase 2, Phase 15802
17MicronutrientsPhase 2, Phase 15802
18Calcium, DietaryPhase 25525
19ImmunoglobulinsPhase 26045
20Cholinergic AgentsPhase 23846
21Nicotinic AgonistsPhase 2902
22gamma-GlobulinsPhase 2317
23AntibodiesPhase 26045
24Neuromuscular AgentsPhase 1, Phase 21129
25Peripheral Nervous System AgentsPhase 1, Phase 222776
26Idebenoneapproved, investigationalPhase 12158186-27-9
27Central Nervous System DepressantsPhase 112806
28Tranquilizing AgentsPhase 14164
29Psychotropic DrugsPhase 16279
30Lithium carbonatePhase 1232554-13-2
31AntioxidantsPhase 12928
32Antidepressive AgentsPhase 12666
33Antimanic AgentsPhase 1790
34
Dopamineapproved375951-61-6, 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
35
Vitamin Aapproved, nutraceutical, vet_approved46811103-57-4, 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
36
Vitamin Eapproved, nutraceutical, vet_approved40659-02-914985
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
37Tocotrienols402
38Vitamins5095
39Tocopherols406
40Retinol palmitate468
41Dopamine Agents3759
42Dopamine agonists618
43retinolNutraceutical468
44TocopherolNutraceutical406
45TocotrienolNutraceutical402

Interventional clinical trials:

(show all 30)
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
4Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Hereditary AtaxiaUnknown statusNCT01360164Phase 1, Phase 2
5A New Method to Treat Hereditary Cerebellar Ataxia - Umbilical Cord Mesenchymal Stem Cells TransplantationUnknown statusNCT01489267Phase 2
6Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar AtaxiaCompletedNCT00202397Phase 2
7Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3CompletedNCT00992771Phase 2
8High-Dose Intravenous Immunoglobulin to Treat Cerebellar DegenerationCompletedNCT00034242Phase 2
9A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram SyndromeRecruitingNCT02829268Phase 1, Phase 2
10EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 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
13Lithium Treatment for Patients With Spinocerebellar Ataxia Type ICompletedNCT00683943Phase 1
14Phase 1 Trial of Idebenone to Treat Patients With Friedreich's AtaxiaCompletedNCT00078481Phase 1
15RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7Unknown statusNCT01037777
16Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)CompletedNCT00004306
17Neuromuscular Electrical Stimulation on Median Nerve Facilitates Low Motor Cortex Excitability in Human With Spinocerebellar AtaxiaCompletedNCT02103075
18Parkinsonism in Spinocerebellar Ataxia Type 6CompletedNCT01934998
19Vitamin Replacement in AbetalipoproteinemiaCompletedNCT00004574
20Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
21Phenotype/Genotype Correlations in Movement DisordersRecruitingNCT00018889
22Study of Inherited Neurological DisordersRecruitingNCT00004568
23Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)RecruitingNCT02316314
24A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)RecruitingNCT02840669
25Cancer in Inherited Bone Marrow Failure SyndromesRecruitingNCT00027274
26The EUROSCA Natural History StudyRecruitingNCT02440763
27Emotional Communication Disorders in Cerebellar DiseaseRecruitingNCT02106819
28Wolfram Syndrome International Registry and Clinical StudyRecruitingNCT02841553
29Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246
30Pancreatic Cancer Screening of High-Risk Individuals in ArkansasActive, not recruitingNCT02309632

Search NIH Clinical Center for Hereditary Ataxia

Inferred drug relations via UMLS68/NDF-RT46:

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 Ataxia27
2 Hereditary Ataxias24

Anatomical Context for Hereditary Ataxia

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MalaCards organs/tissues related to Hereditary Ataxia:

36
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

Publications for Hereditary Ataxia

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Articles related to Hereditary Ataxia:

(show top 50)    (show all 117)
idTitleAuthorsYear
1
NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family. (27261485)
2016
2
Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier. (27724896)
2016
3
Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10A years of disease - a case control study. (27919248)
2016
4
Treatment for dysphagia (swallowing difficulties) in hereditary ataxia. (26564018)
2015
5
Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. (26077168)
2015
6
A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds. (25998802)
2015
7
Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. (24516392)
2014
8
Hereditary ataxia in Jack Russell terriers in the UK. (24736825)
2014
9
Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. (25348587)
2014
10
Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective. (24209901)
2014
11
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. (24603320)
2014
12
Hereditary ataxia in Jack Russell terriers in the UK. (24736826)
2014
13
The global epidemiology of hereditary ataxia and spastic paraplegia: what are the messages? (24603355)
2014
14
Canine hereditary ataxia. (25441626)
2014
15
A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. (24938831)
2014
16
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. (23622410)
2013
17
Autosomal dominant hereditary ataxia in Sri Lanka. (23634774)
2013
18
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study. (23609960)
2013
19
The reciprocal cerebellar circuitry in human hereditary ataxia. (23389921)
2013
20
Hereditary ataxia in Jack Russell terriers in the UK. (22634896)
2012
21
Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers. (22872628)
2012
22
Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with hereditary ataxia. (21575250)
2011
23
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. (20208537)
2010
24
Longitudinal cerebral blood flow changes during speech in hereditary ataxia. (20417959)
2010
25
Yet another gene mutation: dysfunction in mitochondrial protein quality control causing hereditary ataxia. (20738332)
2010
26
New aspects of hereditary ataxia in smooth-haired fox terriers. (20435980)
2010
27
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. (19339254)
2009
28
Suppression of saccadic intrusions in hereditary ataxia by memantine. (18316692)
2008
29
Cognition in hereditary ataxia. (17786824)
2007
30
Mapping cerebral blood flow during speech production in hereditary ataxia. (16443374)
2006
31
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. (16935573)
2006
32
Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. (16736723)
2006
33
SCA-7. Cone-rod dystrophy in the context of an hereditary ataxia]. (16311960)
2005
34
Hereditary ataxia and behavior. (16383226)
2005
35
Eyeblink conditioning in patients with hereditary ataxia: a one-year follow-up study. (15586270)
2005
36
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders: where is the evidence? (15642867)
2005
37
Hereditary ataxia in the Jack Russell Terrier--clinical and genetic investigations. (15320590)
2004
38
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (15210524)
2004
39
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. (12876469)
2003
40
A line of Berlin Druckrey IV rats proposed as a new model for human hereditary ataxia. (12224135)
2002
41
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias--triple-labeling immunofluorescence study. (11563629)
2001
42
Hereditary ataxia. An unfolded protein. (11784584)
2001
43
Hereditary ataxia. Finding balance. (11784585)
2001
44
Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population]. (10996881)
2000
45
Hereditary spastic paraplegia and hereditary ataxia, Part 2: A family demonstrating various phenotypic manifestations with the SCA3 genotype. (10815141)
2000
46
Genes involved in hereditary ataxias. (9735950)
1998
47
The hereditary ataxias. (9630233)
1998
48
The genetic basis of hereditary ataxia. (9193167)
1997
49
Hereditary ataxia with sensory neuronopathy: Biemond's ataxia. (9008534)
1997
50
Cerebellar grafts partially reverse amino acid receptor changes observed in the cerebellum of mice with hereditary ataxia: quantitative autoradiographic studies. (9171167)
1997

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
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 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
8.7ATXN1, ATXN2, ATXN3, ATXN7
2
Show member pathways
8.2ATXN1, 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
1nuclear inclusion bodyGO:004240510.0ATXN1, ATXN3
2nuclear matrixGO:00163638.3ATN1, ATXN1, ATXN3, ATXN7

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

idNameGO IDScoreTop Affiliating Genes
1adult walking behaviorGO:000762810.2CACNA1A, FXN
2intermediate filament cytoskeleton organizationGO:00451049.8ATXN3, DSP
3microtubule cytoskeleton organizationGO:00002269.4ATXN3, ATXN7

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055156.1ATN1, ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A

Sources for Hereditary 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