MCID: SPN312
MIFTS: 46

Spinocerebellar Ataxia 14 malady

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

Aliases & Classifications for Spinocerebellar Ataxia 14

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 68UniProtKB/Swiss-Prot, 12diseasecard, 66UMLS, 11Disease Ontology, 22GeneReviews, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 38MESH via Orphanet, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 50 46 68 12 66
Spinocerebellar Ataxia Type 14 11 22 46 13 52 25
 
Sca14 22 46 52 68 48

Characteristics:

Orphanet epidemiological data:

52
spinocerebellar ataxia type 14:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)

HPO:

62
spinocerebellar ataxia 14:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression, incomplete penetrance


Classifications:



External Ids:

OMIM50 605361
Disease Ontology11 DOID:0050964
Orphanet52 ORPHA98763
MESH via Orphanet38 C537196
ICD10 via Orphanet29 G11.2
UMLS via Orphanet67 C1854369
MedGen35 C1854369
MeSH37 D020754

Summaries for Spinocerebellar Ataxia 14

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UniProtKB/Swiss-Prot:68 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 spinocerebellar ataxia, autosomal recessive 14 and spinocerebellar ataxia type14, and has symptoms including memory loss, memory loss and gait ataxia. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways are Development_Glucocorticoid receptor signaling and Proteolysis_Putative ubiquitin pathway. Affiliated tissues include spinal cord, cerebellum and eye, and related mouse phenotypes are behavior/neurological and cellular.

Description from OMIM:50 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 Type 42

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

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia, autosomal recessive 1411.1
2spinocerebellar ataxia type1411.1
3necatoriasis10.3APTX, PRKCG
4ataxia10.2
5pontocerebellar hypoplasia type 2c5.2APTX, ATG5, CASP3, DDIT3, EEA1, GJA1

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

UMLS symptoms related to Spinocerebellar Ataxia 14:


memory loss, gait ataxia

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 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1glucocorticoidsPhase 3, Phase 04756
2
DexamethasonePhase 3200150-02-25743
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
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 alcohol
Dexamethasone base
Dexamethasone intensol
Dexamethasone-omega
Dexamethasonum
Dexamethasonum [INN-Latin]
Dexamethazone
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
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
3
protease inhibitorsPhase 35157
Synonyms:
 
protease inhibitors
4Dexamethasone acetatePhase 320011177-87-3
5
PhenylpropanolaminePhase 260314838-15-426934
Synonyms:
(+)-Norephedrine
(+-)-Norephedrin
(+-)-Norephedrine
(+/-)-Norephedrin
(-)-Norephedrin
(-)-Norephedrine
(.+-.)-Norephedrine
(1R,2S)-Norephedrine
.psi.-Norephedrine
134-60-1
14838-15-4
16960-27-3
1926-74-5
2-amino-1-phenylpropan-1-ol
27818-48-0
282553_ALDRICH
317500_ALDRICH
36393-56-3
36393-57-4
37577-07-4
37577-28-9
48115-38-4
492-39-7
492-41-1
6891-23-2
700-65-2
74530_FLUKA
AB00375975
AB1001936
AC1L1C6K
AC1L1IYB
AC1L1UWH
AC1L4QZI
AC1Q59PM
AR-1J0987
AR-1J0988
Acutrim
Ami-Tex
BIDD:GT0376
BPBio1_000361
BRN 2802895
BRN 3196918
BSPBio_000327
BSPBio_003292
C02343
C07911
C16719
C9H13NO
CHEBI:327494
CHEMBL136560
CID10297
CID162265
CID26934
CID4786
Cathina
Cathine
Cathine [INN]
Cathinum
Cathinum [INN-Latin]
Codimal
Conex
Contuss
D-(+)-Norephedrine
D08368
DB00397
DEA No. 1230
DL-Norephedrine
DL-Phenylpropanolamine
Despec
Dexatrim
DivK1c_000795
DivK1c_007030
Dura-Vent
EINECS 207-754-1
EINECS 207-755-7
EINECS 211-850-9
EINECS 238-900-2
EINECS 253-014-6
Exponcit
Fansia
Fansia (TN)
Fenilpropanolamina
Fugoa
Fugoa Depot
Gentab
Guaipax
HMS2090P12
HSDB 6485
Hydriatine
I01-8913
I01-8924
IDI1_000795
KBio1_000795
KBio1_001974
KBio2_001583
KBio2_004151
 
KBio2_006719
KBio3_001778
KBio3_002512
KBioGR_001385
KBioGR_001950
KBioSS_001583
Katine
L-(-)-Norephedrine
L-NOREPHEDRINE
L-Phenyl Propanolamine
L001077
LS-176795
LS-97284
LS-97285
LS-97461
LS-97462
Minusine
MolPort-001-769-340
MolPort-001-788-006
MolPort-001-794-194
MolPort-001-794-233
Mucorama
Mucron
Mydriatin
Myminic
NCGC00178157-01
NCGC00178157-02
NINDS_000795
NSC 17704
NSC 9920
NSC120735
NSC17704
NSC9920
Nobese
Nolex
Norephedrin
Norephedrine
Norpseudoephedrine
Obestat
PDSP1_001348
PDSP1_001349
PDSP1_001354
PDSP2_001332
PDSP2_001333
PDSP2_001338
PPA
Partuss
Phenoxine
Phenyldrine
Phenylfenesin
Phenylpropanolamin
Phenylpropanolamina
Phenylpropanolamine
Phenylpropanolaminum
Phénylpropanolamine
Prestwick0_000324
Prestwick1_000324
Prestwick2_000324
Prestwick3_000324
Prestwick_388
Propadrine
Propagest
Pseudonorephedrine
Rhindecon
Rhymed
SPBio_000051
SPBio_000471
SPBio_002248
SPECTRUM2300253
Snaplets
SpecPlus_000934
Spectrum2_000016
Spectrum2_000516
Spectrum3_000889
Spectrum3_001706
Spectrum4_000983
Spectrum4_001685
Spectrum5_000330
Spectrum5_001156
Spectrum_001103
Super Odrinex
TAVIST-D
ULR
UNII-33RU150WUN
UNII-E1L4ZW2F8O
USAF CS-6
Vanex
WLN: ZY1&YQR
WLN: ZY1&YQR -L
d-Nor-psi-ephedrine
d-Norpseudoephedrine
dl-Norephedrine
l-Nor-psi-ephedrin
l-Nor-psi-ephedrine
l-Norephedrine
phenylpropanolamine
psi-Norephedrine
β-hydroxyamphetamine
6
GuaifenesinPhase 260393-14-13516
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
Actifed C
Aeronesin
Amonidren
Amonidrin
Aresol
Benylin-E
Bronchol
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
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Hustosil
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
O-Methoxyphenyl glyceryl ether
Organidin NR
Pneumomist
Propanosedyl
Reduton
Robitussin
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
7interferonsPhase 22112
8
vitamin eNutraceuticalPhase 239259-02-914985
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
9TocopherolNutraceuticalPhase 2395
10TocotrienolNutraceuticalPhase 2391
11PREDNISOLONE ACETATEPhase 01118
12
MethylprednisolonePhase 0111883-43-26741
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
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)
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
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
13
PrednisolonePhase 0111850-24-85755
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
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
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
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 (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

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
5Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
6Methylprednisolone Treatment of Friedreich AtaxiaRecruitingNCT02424435Phase 0
7Transcranial 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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Genetic tests related to Spinocerebellar Ataxia 14:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1425

Anatomical Context for Spinocerebellar Ataxia 14

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MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

34
Spinal cord, Cerebellum, Eye, Testes

Animal Models for Spinocerebellar Ataxia 14 or affiliated genes

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MGI Mouse Phenotypes related to Spinocerebellar Ataxia 14:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.0ATG5, CASP3, DDIT3, GJA1, HSPA4, PRKCG
2MP:00053847.0APTX, ATG5, CASP3, DDIT3, GJA1, HSPA4
3MP:00053856.9ATG5, CASP3, DDIT3, GJA1, GJA8, HSPA5
4MP:00036316.4ATG5, CASP3, DDIT3, GJA1, HSPA4, HSPA5

Publications for Spinocerebellar Ataxia 14

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Articles related to Spinocerebellar Ataxia 14:

idTitleAuthorsYear
1
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14. (24937631)
2014
2
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. (17149711)
2007
3
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. (15618281)
2005
4
The clinical and genetic spectrum of spinocerebellar ataxia 14. (15824357)
2005

Variations for Spinocerebellar Ataxia 14

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

68
id Symbol AA change Variation ID SNP ID
1PRKCGp.His101TyrVAR_017060rs121918511
2PRKCGp.Ser119ProVAR_017061rs121918512
3PRKCGp.Gly128AspVAR_017062rs121918513

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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Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4HSPA4, HSPA5
29.4HSPA4, HSPA5
38.5CASP3, DDIT3, HSPA5, PRKCG

GO Terms for genes affiliated with Spinocerebellar Ataxia 14

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Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexin complexGO:000592210.4GJA1, GJA8
2cytosolGO:00058296.7ATG5, CASP3, DDIT3, EEA1, GJA1, HSPA4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of protein ubiquitinationGO:003139710.1ATG5, PRKCG
2lens development in camera-type eyeGO:00020889.9GJA1, GJA8
3PERK-mediated unfolded protein responseGO:00364999.5DDIT3, HSPA5
4positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stressGO:19904409.5DDIT3, HSPA5
5ATF6-mediated unfolded protein responseGO:00365009.5DDIT3, HSPA5
6ER overload responseGO:00069839.5DDIT3, HSPA5
7response to hydrogen peroxideGO:00425429.3APTX, CASP3, DDIT3
8cellular response to DNA damage stimulusGO:00069749.2APTX, CASP3, DDIT3
9response to unfolded proteinGO:00069869.2DDIT3, HSPA4
10apoptotic processGO:00069158.4ATG5, CASP3, DDIT3, GJA1

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:000524310.5GJA1, GJA8
2protein bindingGO:00055155.0APTX, ATG5, CASP3, DDIT3, EEA1, GJA1

Sources for Spinocerebellar Ataxia 14

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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