Aliases & Classifications for Central Core Myopathy

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Aliases & Descriptions for Central Core Myopathy:

Name: Central Core Myopathy 11 13 66
Myopathy, Central Core 37
 
Central Core Disease 11

Classifications:



External Ids:

Disease Ontology11 DOID:3529
ICD1028 G71.2
SNOMED-CT60 43152001
MeSH37 D020512
NCIt43 C83010

Summaries for Central Core Myopathy

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MalaCards based summary: Central Core Myopathy, also known as myopathy, central core, is related to central core disease and multiple epiphyseal dysplasia, recessive, and has symptoms including generalized muscle weakness An important gene associated with Central Core Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways are Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics and cGMP-PKG signaling pathway. Affiliated tissues include amygdala and skeletal muscle, and related mouse phenotypes are behavior/neurological and muscle.

Related Diseases for Central Core Myopathy

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Diseases related to Central Core Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1central core disease11.7
2multiple epiphyseal dysplasia, recessive10.4RYR1, SEPN1
3myelodysplastic myeloproliferative cancer10.3RYR1, RYR2
4monocular esotropia10.3CACNA1S, RYR1
5medium-chain acyl-coenzyme a dehydrogenase deficiency10.3CACNA1S, RYR1
6muscular dystrophy, rigid spine, 110.2MYH7, SEPN1
7endometrial stromal sarcoma10.1RYR1, RYR2, SEPN1
8myopathy10.1
9ciliary dyskinesia, primary, 9, with or without situs inversus10.0CACNA1S, TRDN
10herpes gestationis10.0RYR1, RYR3
11cerebral cavernous malformation, familial10.0RYR1, RYR2, TRDN
12myopathy, congenital, with fiber-type disproportion10.0MYH7, RYR1, SEPN1
13dowling-degos disease10.0MYH7, SEPN1
14microcephaly and chorioretinopathy 110.0MYH7, RYR1, SEPN1
15prostate malignant phyllodes tumor9.9RYR2, TRDN
16stormorken syndrome9.9QDPR, RYR1, TRDN
17spinal muscular atrophy9.8
18ptosis9.8
19muscular atrophy9.8
20malignant hyperthermia9.8
21malignant hyperthermia susceptibility9.8
22autoimmune disease of skin and connective tissue9.8MYH7, RYR2, TRDN
23chicken egg allergy9.8MYH7, RYR2, TRDN
24umbilical hernia9.7RYR2, TRDN
25adams-oliver syndrome 29.7MTM1, RYR1
26classic variant of chromophobe renal cell carcinoma9.6MTM1, RYR1, SEPN1
27vallecula cancer9.6CACNA1S, QDPR, RYR1, RYR2
28hypokalemic periodic paralysis, type 19.5CACNA1S, QDPR, RYR1, TRDN
29extraosseous ewing's sarcoma9.1MTM1, MYH7, RYR1, SEPN1
30epilepsy, generalized, with febrile seizures plus, type 18.1CACNA1S, MYH7, QDPR, RYR1, RYR2, RYR3
31unverricht-lundborg syndrome6.9CACNA1S, MTM1, MYH7, QDPR, RYR1, RYR2

Graphical network of the top 20 diseases related to Central Core Myopathy:



Diseases related to central core myopathy

Symptoms for Central Core Myopathy

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UMLS symptoms related to Central Core Myopathy:


generalized muscle weakness

Drugs & Therapeutics for Central Core Myopathy

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Drugs for Central Core Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholinePhase 375251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
ValganciclovirPhase 1, Phase 277175865-60-864147
Synonyms:
175865-60-8
5-Amino-3-[1-(hydroxymethyl)-2-(L-valyloxy)ethoxymethyl]-6,7-dihydro-3H-imidazo[4,5-d]pyrimidin-7-one
AC1L20JF
AC1Q63EV
C14H22N6O5
CID64147
Cymeval
D02495
DB01610
I06-1704
L-Valine, 2-((2-amino-1,6-dihydro-6-oxo-9H-purin-9-yl)methoxy)-3-hydroxypropyl ester
L-Valine, ester with ganciclovir
 
L-valine, ester with ganciclovir
LS-173677
NCGC00168779-01
RO1079070/194
RS 79070
UNII-GCU97FKN3R
Valcyt
Valcyte
Valganciclovir
Valganciclovir (INN)
Valganciclovir (Oral)
Valganciclovir [INN:BAN]
[2-[(2-amino-6-oxo-3H-purin-9-yl)methoxy]-3-hydroxypropyl] (2S)-2-amino-3-methylbutanoate
valganciclovir
3
GanciclovirPhase 1, Phase 214682410-32-03454
Synonyms:
106931-35-5
107910-75-8 (mono-hydrochloride salt)
2'-NDG
2'-Nor-2'-deoxyguanosine
2-(6-Amino-purin-9-ylmethoxy)-propane-1,3-diol
2-Amino-1,9-((2-hydroxy-1-(hydroxymethyl)ethoxy)methyl)-6-H-purin-6-one
2-Amino-9-(2-hydroxy-1-hydroxymethyl-ethoxymethyl)-1,9-dihydro-purin-6-one
2-amino-9-((1,3-Dihydroxypropan-2-yloxy)methyl)-1H-purin-6(9H)-one
2-amino-9-((1,3-Dihydroxypropan-2-yloxy)methyl)-3H-purin-6(9H)-one
2-amino-9-((1,3-Dihydroxypropan-2-yloxy)methyl)-9H-purin-6-ol
2-amino-9-((1,3-dihydroxypropan-2-yloxy)methyl)-1H-purin-6(9H)-one
2-amino-9-((1,3-dihydroxypropan-2-yloxy)methyl)-3H-purin-6(9H)-one
2-amino-9-((1,3-dihydroxypropan-2-yloxy)methyl)-9H-purin-6-ol
2-amino-9-(1,3-dihydroxypropan-2-yloxymethyl)-3H-purin-6-one
2-amino-9-(2-Hydroxy-1-hydroxymethylethoxymethyl)-6,9-dihydro-1H-6-purinone
2-amino-9-(2-hydroxy-1-hydroxymethylethoxymethyl)-6,9-dihydro-1H-6-purinone
2-amino-9-{[(1,3-dihydroxypropan-2-yl)oxy]methyl}-1,9-dihydro-6H-purin-6-one
2-amino-9-{[(1,3-dihydroxypropan-2-yl)oxy]methyl}-6,9-dihydro-3H-purin-6-one
82410-32-0
86357-12-2
9-((1,3-Dihydroxy-2-propoxy)methyl)guanine
9-((2-Hydroxy-1-(hydroxymethyl)ethoxy)methyl)guanine
9-(1,3-DIHYDROXY-PROPOXYMETHANE)GUANINE
9-[(1,3-Dihydroxy-2-propoxy)methyl]guanine
9-[(1,3-dihydroxy-2-propoxy)methyl]guanine
96551-29-0
AC-12604
AC1L1FZ2
AC1Q52OB
AKOS004119898
BB_NC-1042
BIDD:GT0783
BIOLF-62
BPBio1_000877
BSPBio_000797
BW 759
BW 759U
BW-759U
BW-795
BW-B 759U
Biolf 62
CAS-82410-32-0
CCRIS 9212
CHEBI:465284
CHEMBL182
CID3454
CPD000058324
Citovirax
Cymevan
Cymeven
Cymevene
Cytovene
Cytovene (TN)
Cytovene-IV
D00333
DB01004
DRG-0018
EU-0100539
 
G 2536
G2536_SIGMA
GA2
GANCICLOVIR SODIUM
GCV & 1110U81
GCV & MSL
Ganciclovir
Ganciclovir & C34-dgA immunotoxin
Ganciclovir & D5-dgA immunotoxin
Ganciclovir (JAN/USP/INN)
Ganciclovir [USAN:INN:BAN:JAN]
Ganciclovirum
Ganciclovirum [Latin]
Gancyclovir
Guanine, 9-((2-hydroxy-1-(hydroxymethyl)ethoxy)methyl)- and MSL, neutralizing monoclonal antibody
HHEMG
HMS1570H19
HMS2090K08
HSDB 6512
Hydroxyacyclovir
I07-0010
IN1478
LS-73939
Lopac-G-2536
Lopac0_000539
MB3795
MLS000028481
MLS001077349
MolPort-000-758-398
MolPort-002-507-301
NCGC00015471-01
NCGC00015471-02
NCGC00015471-03
NCGC00015471-06
NCGC00093928-01
NCGC00093928-02
NCGC00168567-01
PDSP1_000816
PDSP2_000803
Prestwick0_000839
Prestwick1_000839
Prestwick2_000839
Prestwick3_000839
Prestwick_1068
RS-21592
SAM002548936
SMP2_000038
SMR000058324
SPBio_002718
ST-605
STK801910
UNII-P9G3CKZ4P5
Virgan
Vitrasert
Vitrasert (TN)
ZINC00001505
Zirgan
ganciclovir
nchembio.87-comp3
4
Prednisone131853-03-25865
Synonyms:
(1S,2R,10S,11S,14R,15S)-14-hydroxy-14-(2-hydroxyacetyl)-2,15-dimethyltetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-3,6-diene-5,17-dione
(8S,9S,10R,13S,14S,17R)-17-hydroxy-17-(2-hydroxyacetyl)-10,13-dimethyl-6,7,8,9,12,14,15,16-octahydrocyclopenta[a]phenanthrene-3,11-dione
(8xi,9xi,14xi)-17,21-dihydroxypregna-1,4-diene-3,11,20-trione
.delta. E
.delta.(sup1)-Cortisone
.delta.-Cortelan
.delta.-Cortisone
.delta.-Cortone
.delta.-E
.delta.1-Cortisone
.delta.1-Dehydrocortisone
.delta.sone
1,2-Dehydrocortisone
1,4-Pregnadiene-17-alpha,21-diol-3,11,20-trione
1,4-Pregnadiene-17.alpha.,21-diol-3,11,20-trione
1,4-Pregnadiene-17alpha,21-diol-3,11,20-trione
1-Cortisone
1-Dehydrocortisone
17,21-Dihydroxypregna-1,4-diene-3,11,20-trione
17alpha,21-Dihydroxy-1,4-pregnadiene-3,11,20-trione
53-03-2
68-59-7
81552_FLUKA
AC-11112
AC1L1LB2
AC1Q29EZ
ACon0_000082
ACon1_000297
AI3-52939
Adasone
Ancortone
Apo-Prednisone
Apo-prednisone
BPBio1_000323
BRD-K85883481-001-04-2
BSPBio_000293
Betapar
Bicortone
Bio-0649
C07370
C21H26O5
CCRIS 2646
CHEBI:8382
CHEMBL635
CID5865
CPD001227202
Cartancyl
Colisone
Cortan
Cortancyl
Cortidelt
Cotone
DB00635
Dacorten
Dacortin
Decortancyl
Decortin
Decortisyl
Dehydrocortisone
Dekortin
Delcortin
Dellacort
Dellacort A
Delta Cortelan
Delta E
Delta E.
Delta-Cortelan
Delta-Dome
Delta-cortelan
Delta-cortisone
Delta-cortone
Delta-dome
Deltacortene
Deltacortisone
Deltacortone
Deltasone
Deltasone, Liquid Pred, Orasone, Adasone, Deltacortisone,Prednisone
Deltison
Deltisona
Deltisone
Deltra
Di-Adreson
Diadreson
EINECS 200-160-3
Econosone
Encorton
Encortone
Enkortolon
Enkorton
Fernisone
Fiasone
HMS1568O15
HMS2090J13
HSDB 3168
Hostacortin
In-Sone
Incocortyl
 
Juvason
Kortancyl
LMST02030180
LS-1325
Liquid Pred
Lisacort
Lodotra
MEGxm0_000443
MLS001061265
MLS001304073
MLS001335907
MLS001335908
MLS002154191
MLS002207083
Me-Korti
Metacortandracin
Meticorten
Meticorten (Veterinary)
Metrevet (Veterinary)
MolPort-001-740-041
NCGC00090766-01
NCGC00090766-02
NCGC00090766-03
NCI-C04897
NCI60_000008
NSC 10023
NSC10023
Nisona
Nizon
Novoprednisone
Nurison
Orasone
Origen Prednisone
P1276
P6254_SIGMA
PRD
Panafcort
Panasol
Paracort
Parmenison
Pehacort
Precort
Predeltin
Prednicen-M
Prednicorm
Prednicort
Prednicot
Prednidib
Prednilonga
Prednison
Prednisona
Prednisona [INN-Spanish]
Prednisone
Prednisone Intensol
Prednisone [INN:BAN]
Prednisonum
Prednisonum [INN-Latin]
Prednitone
Prednizon
Prednovister
Presone
Prestwick0_000077
Prestwick1_000077
Prestwick2_000077
Prestwick3_000077
Prestwick_405
Pronison
Pronisone
Rectodelt
Retrocortine
S1622_Selleck
SAM002264641
SK-Prednisone
SMR000718760
SMR001227202
SPBio_002214
Servisone
Sone
Sterapred
Supercortil
U 6020
UNII-VB0R961HZT
Ultracorten
Ultracortene
WLN: L E5 B666 CV OV AHTTT&J A1 E1 FV1Q FQ
Winpred
Wojtab
ZINC03875357
Zenadrid
Zenadrid (veterinary)
Zenadrid [veterinary]
delta cortelan
delta(sup 1)-Cortisone
delta(sup 1)-Dehydrocortisone
delta-1-Cortisone
delta-1-Dehydrocortisone
delta-Cortisone
delta-Cortone
5
Methotrexate14961959-05-2, 59-05-2126941
Synonyms:
4-amino-10-methylfolic acid
4-amino-N(10)-Methylpteroylglutamic acid
Abitrexate
Amethopterin
Amethopterine
Antifolan
Arbitrexate
Emtexate
Folex
HDMTX
L-Amethopterin
Ledertrexate
MTX
Metatrexan
 
Methopterin
Methotextrate
Methotrate
Methotrexat
Methotrexate Sodium
Methotrexatum
Methylaminopterin
Methylaminopterinum
Metotrexato
Mexate
Méthotrexate
N-Bismethylpteroylglutamic Acid
N-[4-[[(2,4-Diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid
Rheumatrex
Trexall
6
Azathioprine158446-86-62265
Synonyms:
446-86-6
55774-33-9 (hydrochloride salt)
6-((1-Methyl-4-nitro-1H-imidazol-5-yl)thio)-1H-purine
6-((1-Methyl-4-nitroimidazol-5-yl)thio)purine
6-(1'-Methyl-4'-nitro-5'-imidazolyl)-mercaptopurine
6-(1'-Methyl-4'-nitro-5'-imidazolyl)mercaptopurine
6-(1-Methyl-4-nitroimidazol-5-yl)thiopurine
6-(1-Methyl-4-nitroimidazol-5-ylthio)purin
6-(1-Methyl-4-nitroimidazol-5-ylthio)purin [Czech]
6-(1-Methyl-p-nitro-5-imidazolyl)-thiopurine
6-(1-Methyl-p-nitro-5-imidazolyl)thiopurine
6-(3-Methyl-5-nitro-3H-imidazol-4-ylsulfanyl)-7H-purine
6-(3-methyl-5-nitroimidazol-4-yl)sulfanyl-7H-purine
6-(Methyl-p-nitro-5-imidazolyl)-thiopurine
6-(Methyl-p-nitro-5-imidazolyl)thiopurine
6-({4-nitro-1-methyl-1H-imidazol-5-yl}sulfanyl)-7H-purine
6-1'-Methyl,4'-nitro,5'-imidazolyl mercaptopurine
6-[(1-Methyl-4-nitroimidazol-5-yl)- thio] purine
6-[(1-Methyl-4-nitroimidazol-5-yl)thio]purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)sulfanyl]-7H-purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-1H-Purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-7H-purine
6-[(1-methyl-4-nitro-1H-imidazol-5-yl)thio]-9H-purine
A 4638
A2593_SIAL
A4638_SIAL
A4638_SIGMA
AB00443544
AB00443544-03
AC-4230
AC1L1DAL
AC1Q3Z1F
AI-981/34845012
AI3-50290
Azamun
Azamun [Czech]
Azanin
Azasan
Azasan (TN)
Azasan, Imuran, Azamun, BW-57-322, NSC-39084, Azathioprine
Azathioprin
Azathioprine (JP15/USP/INN)
Azathioprine Sodium
Azathioprine [USAN:INN:BAN:JAN]
Azathioprine sodium
Azathioprinum
Azathioprinum [INN-Latin]
Azathiopurine
Azatioprin
Azatioprina
Azatioprina [INN-Spanish]
Azothioprine
B. W. 57-322
BPBio1_000054
BRD-K32821942-001-05-6
BRD-K60324116-001-01-5
BSPBio_000048
BSPBio_001876
BW 57-322
BW 57322
BW-57-322
C06837
C9H7N7O2S
CAS-446-86-6
CBDivE_013132
CCRIS 62
CHEBI:2948
CHEMBL1542
CID2265
CPD000427366
Ccucol
ChemDiv1_002659
Cytostatics
D00238
DB00993
DivK1c_000586
EINECS 207-175-4
EU-0100027
FT-0083532
HMS1568C10
HMS1920E17
 
HMS2091K19
HMS501N08
HMS594I19
HSDB 7084
IDI1_000586
Immuran
Imuran
Imuran (TN)
Imuran (tn)
Imurek
Imurel
KBio1_000586
KBio2_000464
KBio2_002427
KBio2_003032
KBio2_004995
KBio2_005600
KBio2_007563
KBio3_001376
KBio3_002906
KBioGR_000646
KBioGR_002427
KBioSS_000464
KBioSS_002433
LS-123
Lopac-A-4638
Lopac0_000027
MLS001049307
Methylnitroimidazolylmercaptopurine
MolPort-000-745-914
MolPort-000-764-262
MolPort-003-665-485
Muran
NCGC00015060-01
NCGC00015060-02
NCGC00015060-04
NCGC00015060-12
NCGC00090836-01
NCGC00090836-02
NCGC00090836-03
NCGC00090836-04
NCGC00090836-05
NCGC00090836-06
NCGC00094593-01
NCGC00094593-02
NCGC00094593-03
NCI-C03474
NINDS_000586
NSC 39084
NSC-39084
NSC39084
Oprea1_375441
Oprea1_533384
Oprea1_633462
Prestwick0_000094
Prestwick1_000094
Prestwick2_000094
Prestwick3_000094
Prestwick_41
S1721_Selleck
SAM002589938
SDCCGMLS-0065415.P001
SMR000427366
SPBio_000255
SPBio_001987
SPECTRUM1500133
STK831906
STOCK1S-20293
STOCK1S-27186
Spectrum2_000068
Spectrum3_000308
Spectrum4_000243
Spectrum5_000848
Spectrum_000064
Thiopurine 6-(1-methyl-4-nitroimidazol-5-yl)
UNII-MRK240IY2L
WLN: T56 BM DN FN HNJ IS- ET5N CNJ A1 DNW
ZINC04258316
[Methyl(nitroimidazolyl)mercaptopurine]
azathioprine
azatiopr in
cMAP_000046
7FolateNutraceutical4143
8
Folic AcidNutraceutical414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal SpasticityRecruitingNCT01786005Phase 4
2A Study to Evaluate the Botulinum Toxin Type A for Injection(HengLi®) in Subjects With Post-stroke Upper Limb SpasticityCompletedNCT02280083Phase 3
3Safety and Efficacy of Two Concurrent Injections of AA4500 in Adult Subjects With Multiple Dupuytren's ContracturesCompletedNCT01674634Phase 3
4Phase 2a Dose-Ranging Study to Evaluate Safety and Effectiveness of AA4500 in Treatment of Dupuytren's Disease NodulesCompletedNCT02193828Phase 2
5Valganciclovir (Valcyte) for Chronic Fatigue Syndrome Patients Who Have Elevated Antibody Titers Against Human Herpes Virus 6 (HHV-6)and Epstein-Barr Virus (EBV)Active, not recruitingNCT00478465Phase 1, Phase 2
6Efficacy and Tolerability of BAF312 in Patients With Polymyositis and DermatomyositisTerminatedNCT01148810Phase 2
7Exercise for Stable Myasthenia GravisRecruitingNCT01047761Phase 1
8Ultrasound in Muscle BiopsyCompletedNCT01790178
9Randomized Controlled Trial Comparing Traditional Pelvic Floor Rehabilitation to Pilates in Increasing Pelvic Muscles Strength.CompletedNCT00549458
10Outcome in Patients With Recent Onset Polymyositis and DermatomyositisCompletedNCT01813617
11CORRECT: COmmunity RegistRy Study Evaluating Dupuytren's Contracture TreatmentCompletedNCT01715467
12A Pilot Study of Amygdala Retraining Program in Patients With Chronic Fatigue Syndrome, Chronic Fatigue and FibromyalgiaCompletedNCT01046370
13Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
14Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
15Physical Function in Critical Care (PaciFIC)RecruitingNCT02911896
16A Stepped-care Model of Tailored Behavioural Medicine Pain Intervention in Primary CareNot yet recruitingNCT01992770
17Whole Body Hyperthermia Registry StudyTerminatedNCT02174003

Search NIH Clinical Center for Central Core Myopathy


Cochrane evidence based reviews: myopathy, central core

Genetic Tests for Central Core Myopathy

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Anatomical Context for Central Core Myopathy

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MalaCards organs/tissues related to Central Core Myopathy:

34
Amygdala, Skeletal muscle

Animal Models for Central Core Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Central Core Myopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.1CACNA1S, MTM1, RYR1, RYR2, RYR3, SEPN1
2MP:00053696.7CACNA1S, MTM1, MYH7, RYR1, RYR2, RYR3

Publications for Central Core Myopathy

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Articles related to Central Core Myopathy:

idTitleAuthorsYear
1
First branchial arch syndrome with central core myopathy presenting with bilateral congenital ptosis. (23738416)
2012
2
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. (22030266)
2012
3
RYR1-related central core myopathy in a Chinese adolescent boy. (21282829)
2011
4
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy. (20452790)
2011

Variations for Central Core Myopathy

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Clinvar genetic disease variations for Central Core Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenic, risk factorrs118192161GRCh37Chr 19, 38934851: 38934851
2RYR1NM_000540.2(RYR1): c.7373G> A (p.Arg2458His)single nucleotide variantPathogenic, risk factorrs121918594GRCh37Chr 19, 38991295: 38991295
3RYR1NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys)single nucleotide variantPathogenic, risk factorrs118192175GRCh37Chr 19, 38985204: 38985204
4RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenic, risk factorrs118192163GRCh37Chr 19, 38985205: 38985205
5RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenic, risk factorrs118192170GRCh37Chr 19, 39075629: 39075629
6RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenic, risk factorrs118192167GRCh37Chr 19, 39070644: 39070644
7RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenic, risk factorrs118192162GRCh37Chr 19, 38945999: 38945999
8RYR1NM_000540.2(RYR1): c.1841G> T (p.Arg614Leu)single nucleotide variantPathogenicrs193922772GRCh38Chr 19, 38457546: 38457546
9RYR1NM_000540.2(RYR1): c.7522C> T (p.Arg2508Cys)single nucleotide variantLikely pathogenic, Pathogenicrs118192178GRCh37Chr 19, 38991538: 38991538

Expression for genes affiliated with Central Core Myopathy

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Search GEO for disease gene expression data for Central Core Myopathy.

Pathways for genes affiliated with Central Core Myopathy

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Pathways related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.7CACNA1S, RYR1
2
Show member pathways
9.2CACNA1S, MYH7, RYR2
3
Show member pathways
9.2CACNA1S, MYH7, RYR2
49.2CACNA1S, MYH7, RYR2
5
Show member pathways
8.7CACNA1S, RYR1, RYR2, RYR3
6
Show member pathways
8.7CACNA1S, RYR1, RYR2, RYR3
7
Show member pathways
8.7CACNA1S, RYR1, RYR2, RYR3
88.7CACNA1S, RYR1, RYR2, RYR3
98.7CACNA1S, RYR1, RYR2, RYR3
108.7CACNA1S, RYR1, RYR2, RYR3
11
Show member pathways
8.7CACNA1S, RYR1, RYR2, RYR3
12
Show member pathways
8.7CACNA1S, RYR1, RYR2, RYR3
13
Show member pathways
8.7RYR1, RYR2, RYR3, TRDN
14
Show member pathways
8.3CACNA1S, RYR1, RYR2, RYR3, TRDN
15
Show member pathways
8.2CACNA1S, QDPR, RYR1, RYR2, RYR3

GO Terms for genes affiliated with Central Core Myopathy

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Cellular components related to Central Core Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1junctional membrane complexGO:003031410.0RYR1, TRDN
2T-tubuleGO:00303159.9CACNA1S, RYR1
3voltage-gated calcium channel complexGO:00058919.9CACNA1S, TRDN
4sarcomereGO:00300179.8MYH7, RYR2
5junctional sarcoplasmic reticulum membraneGO:00147019.6RYR1, RYR2, TRDN
6smooth endoplasmic reticulumGO:00057909.5RYR1, RYR2
7I bandGO:00316748.9CACNA1S, MTM1, RYR1
8sarcoplasmic reticulumGO:00165298.8RYR1, RYR2, RYR3, TRDN
9sarcoplasmic reticulum membraneGO:00330178.7RYR1, RYR2, RYR3, TRDN

Biological processes related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1regulation of cytosolic calcium ion concentrationGO:005148010.2RYR1, RYR2
2skeletal muscle fiber developmentGO:004874110.0RYR1, SEPN1
3release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.8RYR1, RYR2, TRDN
4response to caffeineGO:00310009.8RYR1, RYR2
5cardiac muscle contractionGO:00600489.8MYH7, RYR2
6regulation of heart rateGO:00020279.6MYH7, RYR2
7calcium ion transmembrane transportGO:00705889.4CACNA1S, RYR2, RYR3
8cellular response to caffeineGO:00713139.3RYR1, RYR2, RYR3, SEPN1
9calcium ion transportGO:00068169.0CACNA1S, RYR1, RYR2, RYR3
10ion transmembrane transportGO:00342208.9RYR1, RYR2, RYR3, TRDN
11release of sequestered calcium ion into cytosolGO:00512098.9RYR1, RYR2, RYR3
12regulation of cardiac conductionGO:19037798.8RYR1, RYR2, RYR3, TRDN
13muscle contractionGO:00069368.7CACNA1S, MYH7, RYR1, TRDN

Molecular functions related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel activityGO:000524510.3CACNA1S, RYR1
2calcium channel activityGO:000526210.1RYR1, RYR2
3calcium-induced calcium release activityGO:004876310.1RYR2, RYR3
4ryanodine-sensitive calcium-release channel activityGO:00052199.8RYR1, RYR2, RYR3
5calcium-release channel activityGO:00152789.8RYR1, RYR2, RYR3
6calmodulin bindingGO:00055169.0MYH7, RYR1, RYR2, RYR3
7calcium ion bindingGO:00055098.8RYR1, RYR2, RYR3, SEPN1

Sources for Central Core Myopathy

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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