MCID: SPN312
MIFTS: 45

Spinocerebellar Ataxia 14 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 14

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 65UMLS, 10Disease Ontology, 21GeneReviews, 12DISEASES, 51Orphanet, 24GTR, 47Novoseek, 37MESH via Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 49 11 45 67 65
Spinocerebellar Ataxia Type 14 10 21 45 12 51 24
 
Sca14 21 45 47 51 67

Characteristics:

Orphanet epidemiological data:

51
spinocerebellar ataxia type 14:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

61
spinocerebellar ataxia 14:
Onset and clinical course: incomplete penetrance, slow progression
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 605361
Disease Ontology10 DOID:0050964
Orphanet51 98763
MESH via Orphanet37 C537196
ICD10 via Orphanet28 G11.2
UMLS via Orphanet66 C1854369
MedGen34 C1854369
MeSH36 D020754
UMLS65 C1854369

Summaries for Spinocerebellar Ataxia 14

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UniProtKB/Swiss-Prot:67 Spinocerebellar ataxia 14: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).

MalaCards based summary: Spinocerebellar Ataxia 14, also known as spinocerebellar ataxia type 14, is related to spectrin-associated autosomal recessive cerebellar ataxia and spinocerebellar ataxia, autosomal recessive 14, and has symptoms including attention deficit hyperactivity disorder, impaired vibration sensation at ankles and focal dystonia. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways are Transcription_Transcription factor Tubby signaling pathways and Retinoic acid receptors-mediated signaling. Affiliated tissues include eye, cerebellum and spinal cord, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Description from OMIM:49 605361

GeneReviews summary for NBK1399

Related Diseases for Spinocerebellar Ataxia 14

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Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 21 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 37 Spinocerebellar Ataxia 19
Spinocerebellar Ataxia, Autosomal Recessive 11 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 15 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 18 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 1 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 34
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 17
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia, Autosomal Recessive 2
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia 8
Spinocerebellar Ataxia 27 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia, Autosomal Recessive 16
Spinocerebellar Ataxia 31 Spinocerebellar Ataxia, Autosomal Recessive 12
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia 13 spinocerebellar ataxia 14
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia 23
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia Type 16
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1spectrin-associated autosomal recessive cerebellar ataxia11.5
2spinocerebellar ataxia, autosomal recessive 1411.5
3spinocerebellar ataxia type1411.5
4sideroblastic anemia10.3PRKCA, PRKCG
5posterior cerebral artery infarction10.2PRKCA, PRKCG
6tendinitis10.2
7atherosclerosis10.2
8thalassemia10.2
9pseudotumor cerebri10.2
10lyme disease10.2
11dementia10.2
12calcific tendinitis10.2
13transitional cell carcinoma10.2
14hidradenoma10.2
15lipodystrophy10.2
16vascular dementia10.2
17pemphigus10.2
18meningitis10.2
19refractive error10.2
20hypervitaminosis d10.2
21paraneoplastic pemphigus10.2
22grade iii astrocytoma10.2PRKCA, PRKCG
23villonodular synovitis10.2PRKCA, PRKCG
24leukemia10.2
25spinal stenosis10.2
26testicular lymphoma10.2
27lymphoma10.2
28myeloid leukemia10.2
29breast hemangioma10.1PRKCA, PRKCG
30kidney cancer10.0CASP3, PRKCA, PRKCG
31gonococcal keratitis10.0PRKCA, PRKCG
32retinitis pigmentosa 117.2APTX, ATG5, CASP3, DDIT3, EEA1, GJA1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:



Diseases related to spinocerebellar ataxia 14

Symptoms for Spinocerebellar Ataxia 14

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Symptoms by clinical synopsis from OMIM:

605361

Clinical features from OMIM:

605361

HPO human phenotypes related to Spinocerebellar Ataxia 14:

(show all 15)
id Description Frequency HPO Source Accession
1 attention deficit hyperactivity disorder HP:0007018
2 impaired vibration sensation at ankles HP:0006938
3 focal dystonia HP:0004373
4 memory impairment HP:0002354
5 progressive cerebellar ataxia HP:0002073
6 gait ataxia HP:0002066
7 dysphagia HP:0002015
8 hyperreflexia HP:0001347
9 dysmetria HP:0001310
10 cerebellar atrophy HP:0001272
11 mental deterioration HP:0001268
12 dysarthria HP:0001260
13 depression HP:0000716
14 nystagmus HP:0000639
15 facial myokymia HP:0000317

Drugs & Therapeutics for Spinocerebellar Ataxia 14

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Drugs for Spinocerebellar Ataxia 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dexamethasoneapproved, investigationalPhase 3190950-02-25743
Synonyms:
(3H)-Dexamethasone
.delta.(sup 1)-9-.alpha.-Fluoro-16-.alpha.-methylcortisol
.gamma.corten
1-Dehydro-16.alpha.-methyl-9.alpha.-fluorohydrocortisone
1-Dehydro-16alpha -methyl-9alpha -fluorohydrocortisone
1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone
1-Dehydro-16α-methyl-9α-fluorohydrocortisone
137098-19-2
16-alpha-Methyl-9-alpha-fluoro-1-dehydrocortisol
16-alpha-Methyl-9-alpha-fluoro-delta(sup 1)-hydrocortisone
16-alpha-Methyl-9-alpha-fluoro-delta1-hydrocortisone
16-alpha-Methyl-9-alpha-fluoroprednisolone
16.alpha.-Methyl-9.alpha.-fluoro-1-dehydrocortisol
16.alpha.-Methyl-9.alpha.-fluoroprednisolone
16alpha -Methyl-9alpha -fluoro-1-dehydrocortisol
16alpha -Methyl-9alpha -fluoroprednisolone
16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol
16alpha-Methyl-9alpha-fluoro-delta(sup 1)-hydrocortisone
16alpha-Methyl-9alpha-fluoroprednisolone
16α-Methyl-9α-fluoro-1-dehydrocortisol
23495-06-9
31375_FLUKA
46165_FLUKA
46165_RIEDEL
50-02-2
8054-59-9
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11alpha -methylpregna-1,4-diene-3,20-dione
9-Fluoro-16-methylprednisolone
9-alpha-Fluoro-16-alpha-methylprednisolone
9.alpha.-Fluoro-16.alpha.-methylprednisolone
906422-84-2
9A-FLUORO-16BETA-METHYLPREDNISOLONE
9alpha -Fluoro-16alpha -methylprednisolone
9alpha-Fluoro-16alpha-methylprednisolone
9alpha-fluoro-16alpha-methyl-Prednisolone
9α-Fluoro-16α-methylprednisolone
AC-11056
AC1L1L1H
AC1Q29DM
AI3-50934
Adexone
Aeroseb-D
Aeroseb-Dex
Aeroseb-dex
Ak Dex Oph Otic Soln 0.1%
Alcon Brand of Dexamethasone
Anaflogistico
Aphtasolon
Aphthasolone
Apo-dexamethasone
Auxiron
Azimycin (veterinary)
Azium
Azium (Veterinary)
Azium (veterinary)
BIDD:ER0494
BIDD:PXR0060
BRD-K38775274-001-02-3
BRD-K38775274-001-06-4
BSPBio_000995
Baycadron
Bisu DS
Bisu Ds
C15643
C22H29FO5
CCRIS 7067
CHEBI:41879
CHEMBL384467
CID5743
CPD-10549
CPD001227192
Calonat
Corson
Corsone
Cortisumman
D00292
D003907
D1756_SIGMA
D4902_SIGMA
D6645_SIGMA
D8893_SIGMA
D9184_SIGMA
DB01234
DEX
DEXA
DEXONE 0.5
DEXONE 0.75
DEXONE 1.5
DEXONE 4
DXM
DXMS
Decacort
Decacortin
Decaderm
Decadron
Decadron (TN)
Decadron Tablets, Elixir
Decadron, Dexamethasone
Decadron-LA
Decadron-La
Decagel
Decaject
Decaject L.A.
Decaject-L.A.
Decalix
Decameth
Decasone
Decaspray
Dectancyl
Dekacort
Delta1-9alpha-Fluoro-16alpha-methylcortisol
Deltafluorene
Dergramin
Deronil
Desadrene
Desametasone
Desametasone [DCIT]
Desametasone [Dcit]
Desamethasone
Desameton
Deseronil
Dex-Ide
Dex-ide
Dexa
Dexa Mamallet
Dexa mamallet
Dexa-Cortidelt
Dexa-Cortisyl
Dexa-Mamallet
Dexa-Scheroson
Dexa-Sine
Dexa-cortidelt
Dexa-cortisyl
Dexa-scheroson
Dexa-sine
Dexacen-4
Dexacidin
Dexacort
Dexacortal
Dexacortin
Dexadeltone
Dexafarma
Dexair
Dexalona
Dexaltin
Dexametasona
Dexametasona [INN-Spanish]
Dexametasone
Dexameth
Dexamethansone
 
Dexamethasone
Dexamethasone (JP15/USP/INN)
Dexamethasone Acetate
Dexamethasone Alcohol
Dexamethasone Base
Dexamethasone Intensol
Dexamethasone Sodium Phosphate
Dexamethasone [INN:BAN:JAN]
Dexamethasone acetate
Dexamethasone alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone sodium phosphate
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
Dexamethsone
Dexamonozon
Dexapolcort
Dexapos
Dexaprol
Dexason
Dexasone
Dexasone 0.5mg
Dexasone 0.75mg
Dexasone 4mg
Dexasporin
Dexinolon
Dexinoral
Dexone
Dexone 0.5
Dexone 0.75
Dexone 1.5
Dexone 4
Dexonium
Dexpak
Dextelan
Dezone
Dinormon
Dxms
ECR Brand of Dexamethasone
EINECS 200-003-9
FT-0080377
Fluormethylprednisolone
Fluormone
Fluorocort
Fortecortin
Foy Brand of Dexamethasone
Gammacorten
HL-dex
HMS1792A17
HMS1990A17
HMS2089N13
HSDB 3053
Hexadecadrol
Hexadrol
Hexadrol Elixir
Hexadrol Tablets
Hexadrol elixir
Hl-Dex
Hl-dex
I06-1196
ICN Brand of Dexamethasone
IontoDex
Isopto-Dex
Isopto-dex
LS-7300
Lokalison F
Lokalison f
Loverine
Luxazone
MK 125
MLS001055412
MLS001332507
MLS001332508
Maxidex
Maxidex Ont 0.1%
Maxidex Sus 0.1%
Maxitrol
Mediamethasone
Merck Brand of Dexamethasone
Merz Brand 1 of Dexamethasone
Merz Brand 2 of Dexamethasone
Methylfluorprednisolone
Mexidex
Millicorten
MolMap_000018
MolPort-003-846-433
Mymethasone
NCGC00091019-01
NCGC00091019-02
NCGC00091019-03
NCGC00091019-04
NCGC00091019-05
NCI60_003067
NSC 34521
NSC34521
Naquasone (veterinary)
Neomycin and polymyxin b sulfates and dexamethasone
Neomycin and polymyxin b sulphates and dexamethasone
OTO-104
Ocu-Trol
Ocu-trol
Oradexon
Ozurdex
PHL-dexamethasone
PMS-dexamethasone
Pet Derm III
Pet Derm Iii
Pet derm III
Pet-Derm Iii
Pms Dexamethasone Elixir 0.5mg/5ml
Policort
Posurdex
Prednisolon F
Prednisolon f
Prednisolone F
Prednisolone f
Prodex
S1322_Selleck
SAM002548948
SGCUT00126
SK-Dexamethasone
SK-dexamethasone
SMP1_000092
SMR000857119
SMR001227192
ST50307091
Sandoz dexamethasone
Sk-Dexamethasone
Spectrum5_002019
Spoloven
Sunia Sol D
Sunia sol D
Superprednol
TL8003317
Tobradex
Tobramycin and dexamethasone
Tresaderm (veterinary)
Turbinaire
UNII-7S5I7G3JQL
Visumetazone
WLN: L E5 B666 OV KU MUTJ A1 BF CQ E1 FV1Q FQ G1
ZINC03875332
alpha -Fluoro-16-alpha -methylcortisol
delta(Sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta(sup 1)-9-alpha-Fluoro-16-alpha-methylcortisol
delta1-9alpha-Fluoro-16alpha-methylcortisol
dexamethasone
nchembio809-comp2
to_000038
2Hormone AntagonistsPhase 3, Phase 010002
3glucocorticoidsPhase 3, Phase 03896
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 09988
5AntiemeticsPhase 3, Phase 03213
6Peripheral Nervous System AgentsPhase 3, Phase 018510
7Gastrointestinal AgentsPhase 3, Phase 06401
8HormonesPhase 3, Phase 011748
9Antineoplastic Agents, HormonalPhase 3, Phase 04256
10Anti-Inflammatory AgentsPhase 3, Phase 08478
11Pharmaceutical SolutionsPhase 37004
12Dexamethasone acetatePhase 319091177-87-3
13Protease InhibitorsPhase 34558
14Dexamethasone 21-phosphatePhase 31909
15HIV Protease InhibitorsPhase 34558
16BB 1101Phase 31909
17
GuaifenesinapprovedPhase 251293-14-13516
Synonyms:
3-(2-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-propanediol-1,2
3-O-Methoxyphenoxypropane 1:2-diol
7 Select Mucus Relief
Actifed C
Adult Tussin
Adult Tussin chest congestion
Aeronesin
Air Power
Amonidren
Amonidrin
Aresol
Benylin-E
Bidex-400
Bronchol
Broncomar SF
Careone Adult Tussin
Careone Mucus Er
Careone Mucus Relief childrens
Chest Congestion
Chest Congestion Relief
Chest Congestion childrens
Childrens Chest Congestion
Childrens Chest Congestion Relief
Childrens Mucinex Chest Congestion
Childrens Mucinex Mini-Melts Chest Congestion
Childrens Mucus Relief
Childrens Mucus Relief Expectorant Grape
Childrensrelief Expectorant Grape
Cough
Cough Out
Dg Health Mucus Relief Er
Diabetic Siltussin Das-na
Diabetic Tussin Expectorant
Diabetic Tussin Mucus Relief
Equaline Mucus Er
Equaline Tussin chest congestion
Equate Mucus Er
Equate Tussin Adult Chest Congestion
Expectorant
Expectorant 12 Hour
Gadavyt Cough
Geri-tussin Expectorant
Glycerin ether
Glycerin guaiacolate
Glycero-guaiacol ether
Glycerol a-(2-methoxyphenyl) ether
Glycerol a-(O-methoxyphenyl)ether
Glycerol a-guaiacyl ether
Glycerol a-guiacyl ether
Glycerol a-monoguaiacol ether
Glycerol guaiacolate
Glycerol mono(2-methoxyphenyl) ether
Glycerol-a-guajakolether
Glycerol-alpha-guajakolether
Glyceryl guaiacol
Glyceryl guaiacol ether
Glyceryl guaiacolate
Glyceryl guaiacolate ether
Glyceryl guaiacyl ether
Glyceryl guaicolate
Glyceryl guiacolate
Glycerylguaiacol
Good Neighbor Pharmacy Mucus Er
Good Neighbor Pharmacy Mucus Relief
Good Neighbor Pharmacy Tabtussin
Good Neighbor Pharmacy Tussin
Good Sense Mucus Er
Good Sense Mucus Relief
Good Sense Tussin chest congestion
Guaap
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesin Extended Release
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Guiatuss
Health Mart Adult Tussin
Health Mart Mucus Er
Healthmart Chest Congestion Relief
Healthy Accents Childrens Mucus Relief
Healthy Accents Mucus Relief
Healthy Accents Tussin
Healthy Accents Tussin Chest Congestion adult
Hustosil
 
Iophen Nr
Kids-eeze Chest Relief
Leader Adult Tussin Chest Congestion
Leader Adult Tussin Mucus Plus Chest Congestion
Leader Chest Congestion Relief G450
Leader Cough Tabs
Leader Mucus Er
Leader Mucus Relief childrens
Leader Tabtussin 400
Licorice Coughing Liquid
Liqufruta
Liquituss Gg
Little Remedies Little Colds Mucus Relief Expectorant Melt Aways
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
Mucaplex
Mucinex
Mucinex For Kids
Mucinex Maximum Strength
Mucinex for Kids
Mucosa
Mucus Er
Mucus Extended Release
Mucus Releif Expectorant
Mucus Relief
Mucus Relief Chest
Mucus Relief Er
Mucus Relief Expectorant
Mucus Relief Immediate Release
O-Methoxyphenyl glyceryl ether
Organ-i Nr
Organidin NR
Pancold S
Pneumomist
Preferred Plus Chest Congestion Relief
Preferred Plus Mucus Er
Preferred Plus Tabtussin
Premier Value Chest Congestion Relief
Propanosedyl
Q-tussin
Qtussin
Quality Choice Mucus Relief
Reduton
Refenesen
Refenesen Chest Congestion Relief
Respaire-30
Ritussin Expectorant
Robafen Cough Formula
Robitussin
Robitussin Mucus Plus Chest Congestion
Rompe Pecho
Rompe Pecho EX
Rompe Pecho SF
Rugby Mucus Er
Rx Act Tussin Chest Congestion
Scot-tussin Expectorant Sf Cough
Select Brand Coughtab 400
Select Brand Mucus Relief
Select Brand Tab Tussin
Selecthealth Tussin Dm
Shopko Chest Congestion Relief
Shoprite Adult Tussin
Shoprite Mucus Relief
Siltussin Das
Siltussin Sa
Simpex Guaifenesin
Simply Right Mucus Relief
Smart Sense Childrens Mucus Relief
Smart Sense Mucus Er
Smart Sense Tussin adult
Sunmark Mucus Er
Sunmark Tussin
Sunmark Tussin chest congestion
The Medicine Shoppe Chest Congestion Relief
Topcare Mucus Er
Topcare Mucus Relief
Topcare Tussin Chest Congestion
Topcare Tussin mucus plus chest congestion
Tussin
Tussin Adult chest congestion
Tussin Chest
Tussin Chest Congestion Adult Non Drowsy
Tussin Chest Congestion Non Drowsy
Tussin EXPECTORANT
Tussin Non Drowsy
Tussin Original
Tussin adult chest congestion
Tussin adults non drowsy
Tussin expectorant for adults
Tussin mucus plus chest congestion
Ultra Tuss
Wal Tussin adult chest congestion
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
18
Vitamin Eapproved, nutraceuticalPhase 237159-02-914985
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
19TocopherylquinonePhase 22
20TocopherolsPhase 2376
21VitaminsPhase 23857
22TocotrienolsPhase 2372
23Trace ElementsPhase 23900
24MicronutrientsPhase 23901
25Antihypertensive AgentsPhase 23618
26AnticoagulantsPhase 21760
27AntioxidantsPhase 22442
28Chlorpheniramine, phenylpropanolamine drug combinationPhase 2512
29Protective AgentsPhase 2, Phase 05651
30interferonsPhase 21930
31Antiviral AgentsPhase 28071
32Interferon-gammaPhase 2137
33Anti-Infective AgentsPhase 217220
34TocotrienolNutraceuticalPhase 2372
35TocopherolNutraceuticalPhase 2376
36
PrednisoloneapprovedPhase 0108250-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
37
MethylprednisoloneapprovedPhase 0108283-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
38Prednisolone acetatePhase 01082
39Prednisolone hemisuccinatePhase 01082
40Prednisolone phosphatePhase 01082
41Methylprednisolone HemisuccinatePhase 01082
42Methylprednisolone acetatePhase 01082
43Neuroprotective AgentsPhase 01376

Interventional clinical trials:

idNameStatusNCT IDPhase
1EDS in Ataxia Telangiectasia PatientsNot yet recruitingNCT02770807Phase 3
2Efficacy of EGb761 in Patients Suffering From Friedreich AtaxiaCompletedNCT00824512Phase 2
3Safety and Efficacy Study of A0001 in Subjects With Friedreich's AtaxiaCompletedNCT01035671Phase 2
4A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA PatientsRecruitingNCT02035020Phase 2
5Methylprednisolone Treatment of Friedreich AtaxiaRecruitingNCT02424435Phase 0
6Transcranial Magnetic Stimulation in Spino-Cerebellar AtaxiaActive, not recruitingNCT01975909

Search NIH Clinical Center for Spinocerebellar Ataxia 14

Genetic Tests for Spinocerebellar Ataxia 14

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Anatomical Context for Spinocerebellar Ataxia 14

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MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

33
Eye, Cerebellum, Spinal cord, Testes, Skin

Animal Models for Spinocerebellar Ataxia 14 or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Ataxia 14:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8ATG5, CASP3, GJA1, HSPA5, PRKCA, SGCE
2MP:00053867.1ATG5, CASP3, DDIT3, GJA1, HSPA4, PRKCG
3MP:00053846.3APTX, ATG5, CASP3, DDIT3, GJA1, HSPA4
4MP:00036316.2ATG5, CASP3, DDIT3, GJA1, HSPA4, HSPA5

Publications for Spinocerebellar Ataxia 14

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Articles related to Spinocerebellar Ataxia 14:

idTitleAuthorsYear
1
Angiosarcoma. (23248491)
2012
2
Activation or suppression of NFkappaB by HPK1 determines sensitivity to activation-induced cell death. (16341093)
2005
3
Mitochondrial metabolism sets the maximal limit of fuel-stimulated insulin secretion in a model pancreatic beta cell: a survey of four fuel secretagogues. (11821387)
2002
4
The intracellular tyrosine kinase domain of the epidermal growth factor receptor undergoes a conformational change upon autophosphorylation. (8276804)
1994

Variations for Spinocerebellar Ataxia 14

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UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

67
id Symbol AA change Variation ID SNP ID
1PRKCGp.His101TyrVAR_017060
2PRKCGp.Ser119ProVAR_017061
3PRKCGp.Gly128AspVAR_017062

Clinvar genetic disease variations for Spinocerebellar Ataxia 14:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1PRKCGNM_002739.4(PRKCG): c.301C> T (p.His101Tyr)single nucleotide variantPathogenicrs121918511GRCh37Chr 19, 54392907: 54392907
2PRKCGNM_002739.4(PRKCG): c.355T> C (p.Ser119Pro)single nucleotide variantPathogenicrs121918512GRCh37Chr 19, 54392961: 54392961
3PRKCGNM_002739.4(PRKCG): c.383G> A (p.Gly128Asp)single nucleotide variantPathogenicrs121918513GRCh37Chr 19, 54392989: 54392989
4PRKCGNM_002739.4(PRKCG): c.353G> A (p.Gly118Asp)single nucleotide variantPathogenicrs121918514GRCh37Chr 19, 54392959: 54392959
5PRKCGNM_002739.4(PRKCG): c.380A> G (p.Gln127Arg)single nucleotide variantPathogenicrs121918515GRCh37Chr 19, 54392986: 54392986
6PRKCGNM_002739.4(PRKCG): c.1927T> C (p.Phe643Leu)single nucleotide variantPathogenicrs121918516GRCh37Chr 19, 54409982: 54409982
7PRKCGNM_002739.4(PRKCG): c.1081A> G (p.Ser361Gly)single nucleotide variantPathogenicrs121918517GRCh37Chr 19, 54401354: 54401354
8PRKCGNM_002739.4(PRKCG): c.303C> G (p.His101Gln)single nucleotide variantPathogenicrs121918518GRCh37Chr 19, 54392909: 54392909
9PRKCGNM_002739.4(PRKCG): c.2091_*98del102deletionPathogenicGRCh37Chr 19, 54410146: 54410247
10PRKCGNM_002739.4(PRKCG): c.154T> A (p.Cys52Ser)single nucleotide variantLikely pathogenicrs797045900GRCh38Chr 19, 53882648: 53882648
11PRKCGNM_002739.3(PRKCG): c.530_919deldeletionPathogenic
12PRKCGNM_002739.4(PRKCG): c.1438G> T (p.Asp480Tyr)single nucleotide variantPathogenicrs387906679GRCh37Chr 19, 54403866: 54403866
13PRKCGNM_002739.4(PRKCG): c.1078G> A (p.Gly360Ser)single nucleotide variantPathogenicrs386134171GRCh37Chr 19, 54401351: 54401351
14PRKCGNM_002739.4(PRKCG): c.122G> C (p.Arg41Pro)single nucleotide variantPathogenicrs386134158GRCh37Chr 19, 54385870: 54385870
15PRKCGNM_002739.4(PRKCG): c.188G> T (p.Gly63Val)single nucleotide variantPathogenicrs386134159GRCh37Chr 19, 54386434: 54386434
16PRKCGNM_002739.4(PRKCG): c.2075T> G (p.Val692Gly)single nucleotide variantPathogenicrs78437096GRCh37Chr 19, 54410130: 54410130
17PRKCGNM_002739.4(PRKCG): c.229T> A (p.Cys77Ser)single nucleotide variantPathogenicrs386134160GRCh37Chr 19, 54387441: 54387441
18PRKCGNM_002739.4(PRKCG): c.296_301delACAAAC (p.His101_Lys102del)deletionPathogenicrs386134161GRCh37Chr 19, 54392902: 54392907
19PRKCGNM_002739.4(PRKCG): c.341G> A (p.Cys114Tyr)single nucleotide variantPathogenicrs386134162GRCh37Chr 19, 54392947: 54392947
20PRKCGNM_002739.4(PRKCG): c.356C> T (p.Ser119Phe)single nucleotide variantPathogenicrs386134163GRCh37Chr 19, 54392962: 54392962
21PRKCGNM_002739.4(PRKCG): c.367G> A (p.Gly123Arg)single nucleotide variantPathogenicrs386134164GRCh37Chr 19, 54392973: 54392973
22PRKCGNM_002739.4(PRKCG): c.368G> A (p.Gly123Glu)single nucleotide variantPathogenicrs386134165GRCh37Chr 19, 54392974: 54392974
23PRKCGNM_002739.4(PRKCG): c.391T> C (p.Cys131Arg)single nucleotide variantPathogenicrs386134166GRCh37Chr 19, 54392997: 54392997
24PRKCGNM_002739.4(PRKCG): c.392G> A (p.Cys131Tyr)single nucleotide variantPathogenicrs386134167GRCh37Chr 19, 54392998: 54392998
25PRKCGNM_002739.4(PRKCG): c.413T> A (p.Val138Glu)single nucleotide variantPathogenicrs386134168GRCh37Chr 19, 54393155: 54393155
26PRKCGNM_002739.4(PRKCG): c.449_450delGCinsTT (p.Cys150Phe)indelPathogenicrs386134170GRCh37Chr 19, 54393191: 54393192
27PRKCGNM_002739.4(PRKCG): c.417C> A (p.His139Gln)single nucleotide variantPathogenicrs386134169GRCh37Chr 19, 54393159: 54393159
28PRKCGNM_002739.4(PRKCG): c.76A> G (p.Arg26Gly)single nucleotide variantPathogenicrs386134157GRCh37Chr 19, 54385824: 54385824

Expression for genes affiliated with Spinocerebellar Ataxia 14

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 14.

Pathways for genes affiliated with Spinocerebellar Ataxia 14

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GO Terms for genes affiliated with Spinocerebellar Ataxia 14

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Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein ubiquitinationGO:003139710.2ATG5, PRKCG
2cellular response to DNA damage stimulusGO:00069748.9APTX, CASP3, DDIT3

Molecular functions related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase C activityGO:00046979.9PRKCA, PRKCG

Sources for Spinocerebellar Ataxia 14

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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