SCA15
MCID: SPN290
MIFTS: 43

Spinocerebellar Ataxia 15 (SCA15) 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 15

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Aliases & Descriptions for Spinocerebellar Ataxia 15:

Name: Spinocerebellar Ataxia 15 52 48 70 12 68
Spinocerebellar Ataxia Type 15 11 23 48 27 13
Sca15 23 48 70 50
 
Spinocerebellar Ataxia Type 16 70
Sca16 70

Characteristics:

HPO:

64
spinocerebellar ataxia 15:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, juvenile onset, slow progression

GeneReviews:

23
Penetrance: the penetrance is unknown. based on the even segregation ratio in older generations of the known sca15 pedigrees, penetrance is likely to be high or complete in these families. the late age of onset in some cases (≤72 years) may confound attempts to establish penetrance. apparently unaffected parents of three affected siblings were reported in one japanese pedigree, although detailed information on the parents was not available [obayashi et al 2012]. based on pedigree analysis, a parent who would have been predicted to have a pathogenic variant in one of the german families died young (age 31) and was asymptomatic at the time of death, potentially concealing disease development [synofzik et al 2011]...


Classifications:



External Ids:

OMIM52 606658
Disease Ontology11 DOID:0050965
MeSH39 D020754

Summaries for Spinocerebellar Ataxia 15

About this section
NIH Rare Diseases:48 Spinocerebellar ataxia 15 (sca15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. the onset of symptoms typically occurs between ages 7 and 66 years. the ability to walk independently is often maintained for many years following onset of symptoms. sca15 is caused by mutations in the itpr1 gene. it is inherited in an autosomal dominant manner. diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. there is no effective treatment known to modify disease progression. patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.  last updated: 1/22/2013

MalaCards based summary: Spinocerebellar Ataxia 15, also known as spinocerebellar ataxia type 15, is related to spinocerebellar ataxia 29, congenital nonprogressive and spinocerebellar ataxia type 16, and has symptoms including cerebellar ataxia, cerebellar ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia 15 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways are Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include eye, testes and spinal cord, and related mouse phenotypes are behavior/neurological and growth/size/body region.

UniProtKB/Swiss-Prot:70 Spinocerebellar ataxia 15: 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. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.

OMIM:52 SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have... (606658) more...

GeneReviews for NBK1362

Related Diseases for Spinocerebellar Ataxia 15

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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
Spinocerebellar Ataxia Type 42 Spinocerebellar Ataxia 43
Spinocerebellar Ataxia, Autosomal Recessive, 24 Spinocerebellar Ataxia, Autosomal Recessive, 22

Diseases related to Spinocerebellar Ataxia 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia 29, congenital nonprogressive30.2ITPR1, KCNC3, PDYN, SPTBN2, SUMF1
2spinocerebellar ataxia type 1612.2
3spinocerebellar ataxia, autosomal recessive 1511.0
4spinocerebellar ataxia type1511.0
5charcot-marie-tooth disease, axonal, type 2l10.0ITPR1, PDYN
6ataxia10.0
7grid2-related spinocerebellar ataxia9.9ITPR1, SUMF1
8hypotrichosis 19.8KCNC3, PDYN
9chromosome 9p deletion syndrome9.7ITPR1, KCNC3, SPTBN2
10dipetalonemiasis9.6ITPR1, KCNC3, SPTBN2
11acute interstitial pneumonia9.5ITPR1, KCNC3, PDYN, SPTBN2
12cephalic disorders9.4ITPR1, KCNC3, PDYN, SPTBN2

Graphical network of diseases related to Spinocerebellar Ataxia 15:



Diseases related to spinocerebellar ataxia 15

Symptoms & Phenotypes for Spinocerebellar Ataxia 15

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Symptoms by clinical synopsis from OMIM:

606658

Clinical features from OMIM:

606658

Human phenotypes related to Spinocerebellar Ataxia 15:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 dysmetric saccades64 HP:0000641
2 dysarthria64 HP:0001260
3 cerebellar atrophy64 HP:0001272
4 hyperreflexia64 HP:0001347
5 gait ataxia64 HP:0002066
6 limb ataxia64 HP:0002070
7 truncal ataxia64 HP:0002078
8 scanning speech64 HP:0002168
9 postural tremor64 HP:0002174
10 impaired smooth pursuit64 HP:0007772
11 gaze-evoked horizontal nystagmus64 HP:0007979

UMLS symptoms related to Spinocerebellar Ataxia 15:


cerebellar ataxia, action tremor, static tremor, scanning speech, ataxia, truncal, gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 15 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3ITPR1, KCNC3, PDYN, SPTBN2, SUMF1
2MP:00053788.3ITPR1, KCNC3, PDYN, SPTBN2, SUMF1
3MP:00036317.5ITPR1, KCNC3, PDYN, SPTBN2, SUMF1

Drugs & Therapeutics for Spinocerebellar Ataxia 15

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Drugs for Spinocerebellar Ataxia 15 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pioglitazoneapproved, investigationalPhase 4, Phase 3441111025-46-84829
Synonyms:
(+-)-5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
(+/-)-5-[[4-[2-(5-Ethyl-2-pyridinyl)-ethoxy]phenyl]methyl]-2,4-thiazolidinedione
(+/-)-5-[p-[2-(ethyl-2-pyridyl)ethoxy]benzyl]-2,4-thiazolidinedione
105355-27-9
111025-46-8
198077-89-3
2,4-Thiazolidinedione, 5-[[4-[2-(5-ethyl-2-pyridinyl)ethoxy]phenyl]methyl]- (9CI)
5-((4-(2-(5-Ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione
5-(4-(2-(5-ethyl-2-pyridyl)ethoxy)benzyl)-2,4-thiazolidinedione
5-[4-[2-(5-Ethyl-2-pyridyl)ethoxy]benzyl]thiazolidine-2,4-dione
5-[[4-[2-(5-Ethyl-2-pyridinyl)ethoxy]phenyl]methyl]-2,4-thiazolidinedione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]-1,3-thiazolidine-2,4-dione
5-[[4-[2-(5-ethylpyridin-2-yl)ethoxy]phenyl]methyl]thiazolidine-2,4-dione
5-[[4-[2-[(5-ethyl-2-pyridyl)]ethoxy]phenyl]methyl]thiazolidine- 2,4-dione
5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione
AB1004597
AC-1021
AC1L1J1Q
AD 4833
AD-4833
Actos
Actos (TN)
Actost
BRD-A48430263-003-02-4
BSPBio_002723
C07675
C19H20N2O3S
CHEBI:8228
CHEMBL595
CID4829
D08378
DB01132
Duetact
Glustin
HMS2089H14
HS-0047
 
HSDB 7322
I06-0089
KBio2_002103
KBio2_004671
KBio2_007239
KBio3_001943
KBioGR_001619
KBioSS_002103
LS-151327
MolPort-002-508-211
NCGC00163128-01
NCGC00163128-02
Pioglitazona
Pioglitazona [INN-Spanish]
Pioglitazone
Pioglitazone HCl
Pioglitazone Hydrochloride
Pioglitazone [BAN:INN]
Pioglitazone [Ban:Inn]
Pioglitazone [INN:BAN]
Pioglitazonum
Pioglitazonum [INN-Latin]
SPBio_001897
Spectrum2_001679
Spectrum3_001002
Spectrum4_001130
Spectrum5_001480
Spectrum5_002067
Spectrum_001623
U 72107
U 72107A
U-72107
U72,107A
UNII-X4OV71U42S
Zactos
nchembio790-comp10
pioglitazone (INN)
pioglitazone HCl
2
MetforminapprovedPhase 41803657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
3Hypoglycemic AgentsPhase 4, Phase 35896
4
MentholapprovedPhase 226062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
5
Resveratrolexperimental, investigationalPhase 1, Phase 2122501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-resveratrol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-trans-stilbene
3,4',5-trihydroxystilbene
 
3,5,4'-trihydroxystilbene
5-[(E)-2-(4-hydroxyphenyl)vinyl]benzene-1,3-diol
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-Resveratrol
trans-resveratrol
6Peripheral Nervous System AgentsPhase 1, Phase 2, Early Phase 123689
7Antirheumatic AgentsPhase 1, Phase 210956
8Platelet Aggregation InhibitorsPhase 1, Phase 22516
9Protective AgentsPhase 1, Phase 2, Early Phase 17443
10Anti-Inflammatory Agents, Non-SteroidalPhase 1, Phase 24443
11AnalgesicsPhase 1, Phase 211733
12Analgesics, Non-NarcoticPhase 1, Phase 26501
13Anti-Inflammatory AgentsPhase 1, Phase 2, Early Phase 110729
14Antineoplastic Agents, PhytogenicPhase 1, Phase 25602
15AntioxidantsPhase 1, Phase 23050
16
EpicatechinNutraceuticalPhase 266490-46-072276
Synonyms:
(-)-Epicatechin
(-)-Epicatechol
(2R,3R)-(-)-Epicatechin
3,3',4',5,7-Pentahydroxyflavane
Epicatechol
 
Epigallocatechin
L(-)-Epicatechin
L-Acacatechin
L-Epicatechin
L-Epicatechol
alpha-Catechin
17
CatechinNutraceuticalPhase 266154-23-49064
Synonyms:
(+)-Catechin
(+)-Cyanidan-3-ol
(+)-Cyanidanol
(+)-catechin hydrate
(+/-)-Catechin
(+/-)-catechin hydrate
(2R,3S)-(+)-Catechin
(2R,3S)-Catechin
3,3',4',5,7-Flavanpentol
Biocatechin
Catechin
 
Catechinate
Catechinic acid
Catechuate
Catechuic acid
Catergen
Cianidanol
Cianidanolum
Cianidol
Cyanidanol
D-(+)-Catechin
D-Catechin
Trans3,3,4,5,7 pentahydroxyflavane
YK-85 Light Yellow Powder 85
18
Methylprednisoloneapproved, vet_approvedEarly Phase 1119383-43-26741
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
19
Prednisoloneapproved, vet_approvedEarly Phase 1119350-24-85755
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
20Methylprednisolone acetateEarly Phase 11193
21Prednisolone phosphateEarly Phase 11193
22Methylprednisolone HemisuccinateEarly Phase 11193
23Neuroprotective AgentsEarly Phase 11716
24Prednisolone hemisuccinateEarly Phase 11193
25Prednisolone acetateEarly Phase 11193
26Hormones, Hormone Substitutes, and Hormone AntagonistsEarly Phase 113168
27Antineoplastic Agents, HormonalEarly Phase 15592
28AntiemeticsEarly Phase 14022
29Autonomic AgentsEarly Phase 110150
30Gastrointestinal AgentsEarly Phase 18402
31Hormone AntagonistsEarly Phase 113180
32glucocorticoidsEarly Phase 15103
33HormonesEarly Phase 114415

Interventional clinical trials:

idNameStatusNCT IDPhase
1Response of Individuals With Ataxia-Telangiectasia to Metformin and PioglitazoneRecruitingNCT02733679Phase 4
2Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of ConceptCompletedNCT00811681Phase 3
3Study To Assess Safety, Tolerability and Efficacy of Intravenous Cabaletta in Patients With Machado-Joseph DiseaseCompletedNCT02147886Phase 2
4A Study of Resveratrol as Treatment for Friedreich AtaxiaCompletedNCT01339884Phase 1, Phase 2
5(+) Epicatechin to Treat Friedreich's AtaxiaRecruitingNCT02660112Phase 2
6Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3WithdrawnNCT01096095Phase 2
7Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
8Natural History Study of and Genetic Modifiers in Spinocerebellar AtaxiasRecruitingNCT01060371
9Methylprednisolone Treatment of Friedreich AtaxiaRecruitingNCT02424435Early Phase 1
10Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's AtaxiaEnrolling by invitationNCT01776164

Search NIH Clinical Center for Spinocerebellar Ataxia 15

Genetic Tests for Spinocerebellar Ataxia 15

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Genetic tests related to Spinocerebellar Ataxia 15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 1527

Anatomical Context for Spinocerebellar Ataxia 15

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MalaCards organs/tissues related to Spinocerebellar Ataxia 15:

36
Eye, Testes, Spinal cord, Cerebellum, Brain

Publications for Spinocerebellar Ataxia 15

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Articles related to Spinocerebellar Ataxia 15:

idTitleAuthorsYear
1
Spinocerebellar ataxia 15: A phenotypic review and expansion. (27908616)
2016
2
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. (17590087)
2007

Variations for Spinocerebellar Ataxia 15

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UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 15:

70
id Symbol AA change Variation ID SNP ID
1ITPR1p.Pro1059LeuVAR_069568

Clinvar genetic disease variations for Spinocerebellar Ataxia 15:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ITPR1NC_ 000003.12: g.(4480596_ 4480597)_ (4793914_ 4793915)deldeletionPathogenicGRCh38Chr 3, 4480596: 4793915
2ITPR1NM_ 002222.5(ITPR1): c.3176C> T (p.Pro1059Leu)SNVPathogenicrs121912425GRCh37Chr 3, 4725156: 4725156
3ITPR1NM_ 001168272.1(ITPR1): c.7739G> A (p.Gly2580Glu)SNVPathogenicrs869312685GRCh37Chr 3, 4856819: 4856819

Expression for genes affiliated with Spinocerebellar Ataxia 15

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Search GEO for disease gene expression data for Spinocerebellar Ataxia 15.

Pathways for genes affiliated with Spinocerebellar Ataxia 15

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Pathways related to Spinocerebellar Ataxia 15 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5ITPR1, PDYN
29.4ITPR1, KCNC3

GO Terms for genes affiliated with Spinocerebellar Ataxia 15

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Cellular components related to Spinocerebellar Ataxia 15 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell cortexGO:00059389.0KCNC3, SPTBN2

Sources for Spinocerebellar Ataxia 15

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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