MCID: SPN312
MIFTS: 33

Spinocerebellar Ataxia 14 malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Eye diseases, Ear diseases, Metabolic diseases, Skin diseases categories

Aliases & Classifications for Spinocerebellar Ataxia 14

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

Aliases & Descriptions for Spinocerebellar Ataxia 14:

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


Classifications:



Characteristics (Orphanet epidemiological data):

51
sca14:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM49 605361
Orphanet51 98763
ICD10 via Orphanet28 G11
MESH via Orphanet37 C537196
UMLS via Orphanet66 C1854369
MedGen34 C1854369
MeSH36 D020754

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 sca14, is related to spinocerebellar ataxia and ataxia, and has symptoms including autosomal dominant inheritance, facial myokymia and nystagmus. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C, Gamma). Affiliated tissues include eye, spinal cord and cerebellum.

Description from OMIM:49 605361

GeneReviews summary for sca14

Related Diseases for Spinocerebellar Ataxia 14

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Diseases in the Spinocerebellar Ataxia 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 2
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 19/22 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia Autosomal Recessive 5

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

idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia10.5
2ataxia10.5
3cerebellar ataxia10.4
4neuronitis10.3
5dystonia10.3
6myoclonus10.3
7tremor10.3
8spectrin-associated autosomal recessive cerebellar ataxia10.3
9spinocerebellar ataxia type1410.1

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 18)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 facial myokymia HP:0000317
3 nystagmus HP:0000639
4 depression HP:0000716
5 dysarthria HP:0001260
6 mental deterioration HP:0001268
7 cerebellar atrophy HP:0001272
8 dysmetria HP:0001310
9 hyperreflexia HP:0001347
10 dysphagia HP:0002015
11 gait ataxia HP:0002066
12 progressive cerebellar ataxia HP:0002073
13 memory impairment HP:0002354
14 slow progression HP:0003677
15 incomplete penetrance HP:0003829
16 focal dystonia HP:0004373
17 impaired vibration sensation at ankles HP:0006938
18 attention deficit hyperactivity disorder HP:0007018

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 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GuaifenesinapprovedPhase 249693-14-13516
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
2
Vitamin Eapproved, nutraceuticalPhase 235059-02-914985
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
3Chlorpheniramine, phenylpropanolamine drug combinationPhase 2496
4TocopherylquinonePhase 22
5TocopherolsPhase 2355
6TocotrienolsPhase 2352
7Interferon-gammaPhase 2135
8TocotrienolNutraceuticalPhase 2352
9TocopherolNutraceuticalPhase 2355
10
PrednisoloneapprovedPhase 0103350-24-85755
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
11
MethylprednisoloneapprovedPhase 0103383-43-26741
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
12Prednisolone hemisuccinatePhase 01033
13Prednisolone phosphatePhase 01033
14Methylprednisolone HemisuccinatePhase 01033
15Methylprednisolone acetatePhase 01033
16Prednisolone acetatePhase 01033

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of EGb761 in Patients Suffering From Friedreich AtaxiaCompletedNCT00824512Phase 2
2Safety and Efficacy Study of A0001 in Subjects With Friedreich's AtaxiaCompletedNCT01035671Phase 2
3A Phase IIa Trial to Test Safety and Efficacy Interferon Gamma Treatment in Elevating Frataxin Levels in FRDA PatientsRecruitingNCT02035020Phase 2
4Methylprednisolone Treatment of Friedreich AtaxiaRecruitingNCT02424435Phase 0
5Transcranial 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 1424

Anatomical Context for Spinocerebellar Ataxia 14

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MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

33
Eye, Spinal cord, Cerebellum, Skin

Animal Models for Spinocerebellar Ataxia 14 or affiliated genes

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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
The clinical and genetic spectrum of spinocerebellar ataxia 14. (15824357)
2005
4
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. (15618281)
2005

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_002739.3(PRKCG): c.301C> T (p.His101Tyr)single nucleotide variantPathogenicrs121918511GRCh37Chr 19, 54392907: 54392907
2PRKCGNM_002739.3(PRKCG): c.355T> C (p.Ser119Pro)single nucleotide variantPathogenicrs121918512GRCh37Chr 19, 54392961: 54392961
3PRKCGNM_002739.3(PRKCG): c.383G> A (p.Gly128Asp)single nucleotide variantPathogenicrs121918513GRCh37Chr 19, 54392989: 54392989
4PRKCGNM_002739.3(PRKCG): c.353G> A (p.Gly118Asp)single nucleotide variantPathogenicrs121918514GRCh37Chr 19, 54392959: 54392959
5PRKCGNM_002739.3(PRKCG): c.380A> G (p.Gln127Arg)single nucleotide variantPathogenicrs121918515GRCh37Chr 19, 54392986: 54392986
6PRKCGNM_002739.3(PRKCG): c.1927T> C (p.Phe643Leu)single nucleotide variantPathogenicrs121918516GRCh37Chr 19, 54409982: 54409982
7PRKCGNM_002739.3(PRKCG): c.1081A> G (p.Ser361Gly)single nucleotide variantPathogenicrs121918517GRCh37Chr 19, 54401354: 54401354
8PRKCGNM_002739.3(PRKCG): c.303C> G (p.His101Gln)single nucleotide variantPathogenicrs121918518GRCh37Chr 19, 54392909: 54392909
9PRKCGNM_002739.3(PRKCG): c.2091_*98del102deletionPathogenicGRCh37Chr 19, 54410146: 54410247
10PRKCGNM_002739.3(PRKCG): c.154T> A (p.Cys52Ser)single nucleotide variantLikely pathogenicrs797045900GRCh38Chr 19, 53882648: 53882648
11PRKCGNM_002739.3(PRKCG): c.530_919deldeletionPathogenic
12PRKCGNM_002739.3(PRKCG): c.1438G> T (p.Asp480Tyr)single nucleotide variantPathogenicrs387906679GRCh37Chr 19, 54403866: 54403866
13PRKCGNM_002739.3(PRKCG): c.1078G> A (p.Gly360Ser)single nucleotide variantPathogenicrs386134171GRCh37Chr 19, 54401351: 54401351
14PRKCGNM_002739.3(PRKCG): c.122G> C (p.Arg41Pro)single nucleotide variantPathogenicrs386134158GRCh37Chr 19, 54385870: 54385870
15PRKCGNM_002739.3(PRKCG): c.188G> T (p.Gly63Val)single nucleotide variantPathogenicrs386134159GRCh37Chr 19, 54386434: 54386434
16PRKCGNM_002739.3(PRKCG): c.2075T> G (p.Val692Gly)single nucleotide variantPathogenicrs78437096GRCh37Chr 19, 54410130: 54410130
17PRKCGNM_002739.3(PRKCG): c.229T> A (p.Cys77Ser)single nucleotide variantPathogenicrs386134160GRCh37Chr 19, 54387441: 54387441
18PRKCGNM_002739.3(PRKCG): c.296_301delACAAAC (p.His101_Lys102del)deletionPathogenicrs386134161GRCh37Chr 19, 54392902: 54392907
19PRKCGNM_002739.3(PRKCG): c.341G> A (p.Cys114Tyr)single nucleotide variantPathogenicrs386134162GRCh37Chr 19, 54392947: 54392947
20PRKCGNM_002739.3(PRKCG): c.356C> T (p.Ser119Phe)single nucleotide variantPathogenicrs386134163GRCh37Chr 19, 54392962: 54392962
21PRKCGNM_002739.3(PRKCG): c.367G> A (p.Gly123Arg)single nucleotide variantPathogenicrs386134164GRCh37Chr 19, 54392973: 54392973
22PRKCGNM_002739.3(PRKCG): c.368G> A (p.Gly123Glu)single nucleotide variantPathogenicrs386134165GRCh37Chr 19, 54392974: 54392974
23PRKCGNM_002739.3(PRKCG): c.391T> C (p.Cys131Arg)single nucleotide variantPathogenicrs386134166GRCh37Chr 19, 54392997: 54392997
24PRKCGNM_002739.3(PRKCG): c.392G> A (p.Cys131Tyr)single nucleotide variantPathogenicrs386134167GRCh37Chr 19, 54392998: 54392998
25PRKCGNM_002739.3(PRKCG): c.413T> A (p.Val138Glu)single nucleotide variantPathogenicrs386134168GRCh37Chr 19, 54393155: 54393155
26PRKCGNM_002739.3(PRKCG): c.449_450delGCinsTT (p.Cys150Phe)indelPathogenicrs386134170GRCh37Chr 19, 54393191: 54393192
27PRKCGNM_002739.3(PRKCG): c.417C> A (p.His139Gln)single nucleotide variantPathogenicrs386134169GRCh37Chr 19, 54393159: 54393159
28PRKCGNM_002739.3(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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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