MCID: CNG464
MIFTS: 49

Congenital Myopathy malady

Categories: Genetic diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Congenital Myopathy

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Aliases & Descriptions for Congenital Myopathy:

Name: Congenital Myopathy 11 48 24 49 13
Myopathy - Congenital 49 27
Batten Turner Congenital Myopathy 48
 
Myopathy, Congenital 50
Myopathy Congenital 48
Myotonia Congenita 68

Characteristics:


Classifications:



External Ids:

Disease Ontology11 DOID:0080100

Summaries for Congenital Myopathy

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NINDS:49 A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.

MalaCards based summary: Congenital Myopathy, also known as myopathy - congenital, is related to myopathy and muscular dystrophy, rigid spine, 1, and has symptoms including abnormality of the nervous system and myopathy. An important gene associated with Congenital Myopathy is ACTA1 (Actin, Alpha 1, Skeletal Muscle), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Striated Muscle Contraction. Affiliated tissues include skeletal muscle and skin, and related mouse phenotypes are skeleton and behavior/neurological.

Wikipedia:71 Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily... more...

Related Diseases for Congenital Myopathy

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Diseases in the Myopathy family:

congenital myopathy Gne-Related Myopathy
Benign Autosomal Dominant Myopathy Selenon-Related Myopathy

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.7ACTA1, CFL2, NEB, RYR1
2muscular dystrophy, rigid spine, 129.6ACTA1, DMD, MYH7
3multiminicore disease29.6RYR1, SCN4A
4myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related29.2ACTA1, DMD, MYH7
5congenital fiber-type disproportion11.8
6congenital myopathy, paradas type11.8
7benign samaritan congenital myopathy11.8
8congenital myopathy with myasthenic-like onset11.8
9costello syndrome11.6
10myopathy, congenital, compton-north11.5
11native american myopathy11.5
12nemaline myopathy 3, autosomal dominant or recessive11.5
13cap myopathy11.3
14central core disease11.2
15muscular dystrophy, congenital, due to itga7 deficiency11.1
16myopathy, areflexia, respiratory distress, and dysphagia, early-onset11.1
17myopathy, centronuclear11.1
18ullrich congenital muscular dystrophy 111.0
19myopathy, tubular aggregate, 111.0
20malignant hyperthermia susceptibility 111.0
21minicore myopathy with external ophthalmoplegia11.0
22myopathy, centronuclear, 411.0
23bethlem myopathy 110.8
24myopathy, myosin storage, autosomal dominant10.8
25becker muscular dystrophy10.8
26centronuclear myopathy 510.6
27nemaline myopathy 1010.6
28ullrich congenital muscular dystrophy 210.6
29ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.6
30immunodeficiency 910.6
31myopathy, tubular aggregate, 210.6
32nemaline myopathy 7, autosomal recessive10.6
33tpm3-related congenital fiber-type disproportion10.6
34actin-accumulation myopathy10.6
35nemaline myopathy10.3
36iodine antenatal infection10.2ACTA1, NEB
37hypertonia10.2ACTA1, NEB
38short limbs abnormal face congenital heart disease10.2ACTA1, NEB
39chondrodysplasia calcificans metaphysealis10.2ACTA1, NEB
40muscular dystrophy, congenital10.2
41reducing body myopathy10.2
42zebra body myopathy10.2
43premature ovarian failure 510.1RYR1, SCN4A
44raynaud disease10.1RYR1, SCN4A
45b cell deficiency10.1RYR1, SCN4A
46myelofibrosis10.1COL6A3, RYR1
47undifferentiated pleomorphic sarcoma10.1ACTA1, CFL2, NEB
48myopathy, congenital, with fiber-type disproportion10.1ACTA1, MYH7, RYR1
49pediatric angiosarcoma10.1RYR1, SCN4A
50hypoglossal nerve neoplasm10.1ACTA1, CFL2, NEB

Graphical network of the top 20 diseases related to Congenital Myopathy:



Diseases related to congenital myopathy

Symptoms & Phenotypes for Congenital Myopathy

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Human phenotypes related to Congenital Myopathy:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system64 HP:0000707
2 myopathy64 HP:0003198

MGI Mouse Phenotypes related to Congenital Myopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.3ACTA1, COL6A3, DMD, HRAS, ITGA7, NEB
2MP:00053867.9ACTA1, CFL2, CNTN1, DMD, HRAS, ITGA7
3MP:00107687.8ACTA1, CFL2, CNTN1, DMD, HRAS, ITGA7
4MP:00053917.8ACTA1, CNTN1, COL6A3, DMD, MEGF10, NEB
5MP:00053787.0ACTA1, CFL2, CNTN1, COL6A3, DMD, HRAS
6MP:00053696.9ACTA1, CFL2, CNTN1, COL6A3, DMD, ITGA7

Drugs & Therapeutics for Congenital Myopathy

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

(show top 50)    (show all 98)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcholineapprovedPhase 4, Phase 3, Phase 280551-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
2
BezafibrateapprovedPhase 41441859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
3Peripheral Nervous System AgentsPhase 4, Phase 3, Phase 223689
4Neurotransmitter AgentsPhase 4, Phase 3, Phase 218340
5Hypolipidemic AgentsPhase 4, Phase 22785
6onabotulinumtoxinAPhase 4, Phase 3, Phase 2652
7Neuromuscular AgentsPhase 4, Phase 3, Phase 21180
8AntimetabolitesPhase 4, Phase 212054
9Anticholesteremic AgentsPhase 4, Phase 22025
10incobotulinumtoxinAPhase 4, Phase 3, Phase 2662
11Botulinum ToxinsPhase 4, Phase 3, Phase 2697
12abobotulinumtoxinAPhase 4, Phase 3, Phase 2652
13Clofibric AcidPhase 422882-09-7
14Lipid Regulating AgentsPhase 4, Phase 22766
15Botulinum Toxins, Type APhase 4, Phase 3, Phase 2657
16Cholinergic AgentsPhase 4, Phase 3, Phase 23992
17
Lamotrigineapproved, investigationalPhase 318584057-84-13878
Synonyms:
3,5-Diamino-6-(2,3-dichlorophenyl)-1,2,4-triazine
3,5-Diamino-6-(2,3-dichlorophenyl)-as-triazine
3,5-diamino-6-(2,3-dichlorophenyl)- as -triazine
6-(2,3-Dichlorophenyl)-1,2,4-triazine-3,5-diyldiamine
6-(2,3-dichlorophenyl)-1,2,4-triazine-3,5-diamine
84057-84-1
AC-10298
AC1L1GWT
BIDD:GT0794
BW 430C
BW-430C
Bio-0056
C047781
CHEBI:138727
CHEBI:6367
CHEMBL741
CID3878
CPD000058464
Crisomet
D00354
DB00555
Desitin Brand of Lamotrigine
EINECS 281-901-8
EU-0100688
EUR-1048
Faes Brand of Lamotrigine
GI 267119X
GW 273293
Glaxo Wellcome Brand of Lamotrigine
GlaxoSmithKline Brand of Lamotrigine
HMS2051C10
HMS2089M08
HMS2093P21
HSDB 7526
Juste Brand of Lamotrigine
L 3791
L3791_SIGMA
LS-155249
 
Labileno
Lamictal
Lamictal (TN)
Lamictal CD
Lamictal Cd
Lamictal ODT
Lamictal XR
Lamictin
Lamiktal
Lamitor
Lamotrigina
Lamotrigina [Spanish]
Lamotrigine
Lamotrigine (JAN/USAN/INN)
Lamotrigine [USAN:INN:BAN]
Lamotriginum
Lamotriginum [Latin]
Lopac-L-3791
Lopac0_000688
MLS000069685
MLS000759486
MLS001077325
MolPort-003-666-744
NCGC00015605-01
NCGC00015605-02
NCGC00015605-06
NCGC00015605-08
NCGC00022936-02
NCGC00022936-04
NCGC00022936-05
NSC746307
SAM001246697
SMP2_000303
SMR000058464
STK628377
Tocris-1611
UNII-U3H27498KS
ZINC00013156
lamotrigine
18
DichlorphenamideapprovedPhase 32120-97-83038
Synonyms:
1,3-Disulfamoyl-4,5-dichlorobenzene
1,3-Disulfamyl-4,5-dichlorobenzene
1,3-disulfamoyl-4,5-dichlorobenzene
120-97-8
2pou
3,4-Dichloro-5-sulfamylbenzenesulfonamide
4,5-DICHLOROBENZENE-1,3-disulfonamide
4,5-Dichloro-1,3-benzenedisulfonamide
4,5-Dichloro-1,3-disulfamoylbenzene
4,5-Dichloro-benzene-1,3-disulfonic acid diamide
4,5-Dichloro-m-benzenedisulfonamide
4,5-Dicholorobenzene-1,3-disulfonamide
4,5-dichloro-1,3-disulfamoylbenzene
4,5-dichloro-m-benzenedisulfonamide
4,5-dichlorobenzene-1,3-disulfonamide
AC1L1F18
Antidrasi
BPBio1_000745
BRD-K71499074-001-03-8
BRN 2703329
BSPBio_000677
Barastonin
C07459
C6H6Cl2N2O4S2
CAS-120-97-8
CB 8000
CHEBI:101085
CHEMBL17
CID3038
D004005
D00518
DB01144
DB07948
Daranide
Daranide (TN)
Dasanide
Dichlofenamide
Dichlorophenamide
Dichlorophenamide (DCP)
 
Dichlorphenamid
Dichlorphenamide
Dichlorphenamide (USP)
Dichlorphenamide [BAN]
Diclofenamid
Diclofenamida
Diclofenamida [INN-Spanish]
Diclofenamide
Diclofenamide (JP15/INN)
Diclofenamidum
Diclofenamidum [INN-Latin]
EINECS 204-440-6
FT-0084528
Glafco
Glajust
Glaucol
Glauconide
Glaumid
HMS1570B19
HSDB 3267
I7A
LS-30043
Llorens Brand of Dichlorphenamide
MLS002154010
Merck Brand of Dichlorphenamide
MolPort-004-285-635
NCGC00016371-01
NCGC00016371-02
Oratrol
Prestwick0_000809
Prestwick1_000809
Prestwick2_000809
Prestwick3_000809
Prestwick_1071
S2177_Selleck
SBB058142
SMR001233338
SPBio_002598
UNII-VVJ6673MHY
ZINC00896918
dichlorphenamide
19
MexiletineapprovedPhase 3, Phase 22031828-71-44178
Synonyms:
(+-)-1-(2,6-Dimethylphenoxy)propan-2-amine
(+-)-1-(2,6-dimethylphenoxy)propan-2-amine
(2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane
1-(2',6'-Dimethylphenoxy)-2-aminopropane
1-(2,6-Dimethylphenoxy)-2-propanamine
1-(2,6-dimethylphenoxy)propan-2-amine
1-Methyl-2-(2,6-xylyloxy)ethanamine
1-Methyl-2-(2,6-xylyloxy)ethylamine
1-methyl-2-(2,6-xylyloxy)ethanamine
2-(2-Aminopropoxy)-1,3-DiMethyl-Benzene Hydrochloride
2-(2-aminopropoxy)-1,3-dimethylbenzene
31828-71-4
5370-01-4 (hydrochloride)
AB00053683
AC1L1HL7
AC1Q2BC5
AC1Q2BC6
BPBio1_000026
BRD-A64092382-003-04-3
BRN 2092205
BSPBio_000022
BSPBio_002254
C07220
CHEBI:115958
CHEBI:6916
CHEMBL558
CID4178
D08215
DB00379
DivK1c_000834
EINECS 250-825-7
I01-6374
IDI1_000834
KBio1_000834
KBio2_002082
KBio2_004650
 
KBio2_007218
KBio3_001474
KBioGR_001270
KBioSS_002082
KO-1173
KO1173
KOE-1173
LS-68257
Lopac0_000784
Mexiletene
Mexiletina
Mexiletina [INN-Spanish]
Mexiletine
Mexiletine (INN)
Mexiletine HCL
Mexiletine [INN:BAN]
Mexiletinum
Mexiletinum [INN-Latin]
Mexilitine
Mexilétine
Mexitil
Mexityl
MolPort-001-790-944
NCGC00015659-04
NCGC00162253-01
NCGC00162253-02
NINDS_000834
Prestwick0_000241
Prestwick1_000241
Prestwick2_000241
Prestwick3_000241
SBB070242
SPBio_002241
Spectrum3_000727
Spectrum4_000795
Spectrum5_001279
Spectrum_001602
UNII-1U511HHV4Z
20Anti-Arrhythmia AgentsPhase 3, Phase 23093
21Excitatory Amino Acid AntagonistsPhase 31347
22Excitatory Amino AcidsPhase 31362
23AnestheticsPhase 39596
24Calcium, DietaryPhase 3, Phase 25713
25Diuretics, Potassium SparingPhase 3, Phase 21917
26calcium channel blockersPhase 31985
27Carbonic Anhydrase InhibitorsPhase 3186
28Sodium Channel BlockersPhase 3, Phase 21593
29AnticonvulsantsPhase 32695
30
Ranolazineapproved, investigationalPhase 280142387-99-3, 95635-55-556959
Synonyms:
( -)-Ranolazine
(-)-Ranolazine
142387-99-3
95635-55-5
AC-1673
AC1L1M17
AC1Q5LYD
BRD-A97674275-001-01-9
BSPBio_002276
CHEMBL1404
CID56959
CVT-303
D05700
DB00243
HMS1922F16
HMS2090L09
HMS2093D21
I01-2008
I06-0160
KEG-1295
LS-187267
Latixa
Lopac0_001062
 
MLS002154149
MolPort-003-666-653
N-(2,6-dimethylphenyl)-2-[4-[2-hydroxy-3-(2-methoxyphenoxy)propyl]piperazin-1-yl]acetamide
NCGC00015897-05
NCGC00095177-01
NCGC00095177-02
NCGC00095177-03
RAN D
RANOLAZINE
RS-43285
RS-43285-003
Ran4
Ranexa
Ranexa (TN)
Ranexa, Ranolazine
Ranolazine (USAN/INN)
Ranolazine 2HCl
Ranolazine Dihydrochloride
Ranolazine dihydrochloride
S1799_Selleck
SMR000857382
SPECTRUM1505366
UNII-A6IEZ5M406
ranolazine
31
alemtuzumabapproved, investigationalPhase 2310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
32
Celecoxibapproved, investigationalPhase 2444169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
33
ThiotepaapprovedPhase 222652-24-45453
Synonyms:
 
Thioplex
34
rituximabapprovedPhase 21692174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
35
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
36
Busulfanapproved, investigationalPhase 254555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
37
Acetylcysteineapproved, investigationalPhase 1, Phase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
38
chenodeoxycholic acidapprovedPhase 234474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
39
Vitamin Eapproved, nutraceutical, vet_approvedPhase 241459-02-914985
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
40
Resveratrolexperimental, investigationalPhase 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
41AnalgesicsPhase 211733
42HemagglutininsPhase 2121
43Pharmaceutical SolutionsPhase 28192
44TocopherolsPhase 2414
45Alkylating AgentsPhase 24827
46Thioctic AcidPhase 2118
47TocotrienolsPhase 2410
48Protective AgentsPhase 1, Phase 27443
49N-monoacetylcystinePhase 1, Phase 2330
50VitaminsPhase 25282

Interventional clinical trials:

(show top 50)    (show all 84)
idNameStatusNCT IDPhase
1The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)CompletedNCT01527318Phase 4
2Post Marketing Surveillance Study of DysportCompletedNCT00210431Phase 4
3Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus FootRecruitingNCT03044080Phase 4
4Effects of Functional Electrical Stimulation on Gait in Children With Cerebral PalsyNot yet recruitingNCT02462018Phase 4
5Mexiletine and Non Dystrophic MyotoniasCompletedNCT02336477Phase 3
6Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel DisordersCompletedNCT00004802Phase 3
7Lamotrigine as Treatment of MyotoniaCompletedNCT01939561Phase 3
8Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic PatientsCompletedNCT00825097Phase 3
9Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaActive, not recruitingNCT02604186Phase 2, Phase 3
10Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
11Treatment of TNNT1-Myopathy With L-Tyrosine.Unknown statusNCT02035501Phase 2
12Low Protein Diet in Patients With Collagen VI Related MyopathiesCompletedNCT01438788Phase 2
13Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral PalsyCompletedNCT02188277Phase 2
14Mexiletine for Muscle Cramps in Charcot Marie Tooth DiseaseCompletedNCT02561702Phase 2
15Effects of Power Mobility on Young Children With Severe Motor ImpairmentsCompletedNCT01028833Phase 2
16Antioxidant Therapy in RYR1-Related Congenital MyopathyRecruitingNCT02362425Phase 1, Phase 2
17Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1RecruitingNCT02251457Phase 2
18Study of Tideglusib in Adolescent and Adult Patients With Myotonic DystrophyRecruitingNCT02858908Phase 2
19MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
20Pediatric Radio Frequency Coils GenericRecruitingNCT01633866Phase 1, Phase 2
21Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5Active, not recruitingNCT02314208Phase 2
22Efficacy of Sialic Acid GNE Related ThrombocytopeniaEnrolling by invitationNCT02845609Phase 2
23Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)RecruitingNCT01805024Phase 1
24Hematopoietic Stem Cell Therapy for Patients With Refractory Myasthenia GravisTerminatedNCT00424489Phase 1
25T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseUnknown statusNCT02350829
26Flu Vaccine Study in Neuromuscular Patients 2011Unknown statusNCT01422200
27Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsUnknown statusNCT01306994
28WREX Outcome StudyUnknown statusNCT02218593
29Aerobic Training in Patients With Congenital MyopathiesCompletedNCT02020187
30Natural History in CCFDN and IBM SyndromesCompletedNCT01902940
31Myotubular Myopathy Event StudyCompletedNCT01840657
32Characteristics of Nondystrophic MyotoniasCompletedNCT00244413
33MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
34A Study to Test Lung Stretch Therapy (Hyperinsufflation) in Children With Collagen VI Muscular DystrophyCompletedNCT01836627
35Relations Between Myotonia and FitnessCompletedNCT02161835
36Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to TreatmentCompletedNCT00499070
37Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus FootCompletedNCT01265238
38Treatment of Spastic Equinovarus Foot After StrokeCompletedNCT00199589
39A Randomized Exercise Trial for Wheelchair UsersCompletedNCT00866112
40Compare the Medical Conditions of Gulf War Veterans to Non-Deployed VeteransCompletedNCT00032461
41Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral SclerosisCompletedNCT00023075
42Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
43Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
44Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle DiseasesRecruitingNCT03018184
45Muscle Oxygenation in Effort in Neuromuscular DiseasesRecruitingNCT02789059
46Myotubular Myopathy Genetic Testing StudyRecruitingNCT01817946
47Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)RecruitingNCT02057705
48A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)RecruitingNCT02231697
49Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
50Clinical Study on the Safety of CNT-02 for TGCV and NLSD-MRecruitingNCT02830763

Search NIH Clinical Center for Congenital Myopathy

Genetic Tests for Congenital Myopathy

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Genetic tests related to Congenital Myopathy:

id Genetic test Affiliating Genes
1 Congenital Myopathy27 24

Anatomical Context for Congenital Myopathy

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MalaCards organs/tissues related to Congenital Myopathy:

36
Skeletal muscle, Skin

Publications for Congenital Myopathy

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Articles related to Congenital Myopathy:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. (27816943)
2017
2
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. (28003463)
2017
3
Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. (28003497)
2016
4
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. (28012042)
2016
5
Use of guidelines when planning home care of a girl with severe congenital myopathy. (26776543)
2016
6
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. (27726070)
2016
7
Prevalence and phenotypes of congenital myopathy due to I+-actin 1 gene mutations. (26172852)
2016
8
Aerobic Training in Patients with Congenital Myopathy. (26751952)
2016
9
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness. (27177998)
2016
10
Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital myopathy. (27448459)
2016
11
Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. (27484770)
2016
12
A case of congenital myopathy (Nemaline myopathy). (27727847)
2016
13
Aberrant movement of I^-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle. (25978979)
2015
14
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease. (26001911)
2015
15
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years. (27858727)
2015
16
Nocturnal respiratory failure in a child with congenital myopathy - management using average volume-assured pressure support (AVAPS). (26392861)
2015
17
Bilateral foot-drop as predominant symptom in nebulin (NEB) gene related "core-rod" congenital myopathy. (26403434)
2015
18
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. (25987458)
2015
19
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (26700687)
2015
20
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. (26019235)
2015
21
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. (24507666)
2014
22
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy. (24973498)
2014
23
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. (24951453)
2014
24
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. (24692096)
2014
25
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. (25079567)
2014
26
A case of congenital myopathy masquerading as paroxysmal dyskinesia. (25506169)
2014
27
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy. (23800289)
2013
28
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. (23804214)
2013
29
Congenital myopathy with focal loss of cross-striations revisited. (23127960)
2013
30
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle. (23294764)
2013
31
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. (23553787)
2013
32
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale. (24214178)
2013
33
Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy. (23464837)
2013
34
Congenital myopathy is caused by mutation of HACD1. (23933735)
2013
35
Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy. (23005904)
2012
36
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. (22980765)
2012
37
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. (22798622)
2012
38
A fatal case of cor pulmonale with undetected chronic hypoventilation in an infant with a known congenital myopathy. (22754704)
2012
39
Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. (22818856)
2012
40
Did giant mitochondria delay muscle maturation? An uncommon congenital myopathy. (22693000)
2012
41
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. (22749829)
2012
42
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. (22371254)
2012
43
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (22560515)
2012
44
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. (22752422)
2012
45
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (21267004)
2011
46
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. (20937510)
2011
47
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. (21911697)
2011
48
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. (21062345)
2011
49
Prevalence of congenital myopathies in a representative pediatric united states population. (22028225)
2011
50
Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. (21514153)
2011

Variations for Congenital Myopathy

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Expression for genes affiliated with Congenital Myopathy

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Search GEO for disease gene expression data for Congenital Myopathy.

Pathways for genes affiliated with Congenital Myopathy

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Pathways related to Congenital Myopathy according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.8ACTA1, DMD
29.5ACTA1, DMD, NEB
39.4ACTA1, HRAS, ITGA7
4
Show member pathways
9.2DMD, ITGA7, MYH7
5
Show member pathways
9.1ACTA1, HRAS, MYH7
6
Show member pathways
9.0ACTA1, DMD, HRAS, ITGA7
7
Show member pathways
9.0DMD, NEB, RYR1, SCN4A
8
Show member pathways
9.0CFL2, HRAS, MYH7
9
Show member pathways
8.4ACTA1, CFL2, HRAS, ITGA7, MYH7
10
Show member pathways
8.4ACTA1, CFL2, HRAS, ITGA7, MYH7
11
Show member pathways
8.4ACTA1, CFL2, HRAS, ITGA7, MYH7
12
Show member pathways
7.6ACTA1, CFL2, COL6A3, HRAS, ITGA7, MYH7

GO Terms for genes affiliated with Congenital Myopathy

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Cellular components related to Congenital Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1I bandGO:003167410.4CFL2, RYR1
2actin cytoskeletonGO:001562910.1ACTA1, CFL2, NEB
3sarcomereGO:00300179.8ACTA1, MYH7, NEB
4myofibrilGO:00300169.7DMD, MYH7, NEB
5Z discGO:00300188.7CFL2, DMD, MYH7, NEB

Biological processes related to Congenital Myopathy according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1muscle cell cellular homeostasisGO:004671610.3CFL2, DMD
2cardiac muscle contractionGO:006004810.1DMD, MYH7
3skeletal muscle fiber developmentGO:00487419.9ACTA1, RYR1
4regulation of heart rateGO:00020279.8DMD, MYH7
5muscle filament slidingGO:00300499.4ACTA1, DMD, MYH7, NEB
6muscle contractionGO:00069369.4ACTA1, MYH7, RYR1, SCN4A
7cell adhesionGO:00071559.1CNTN1, COL6A3, ITGA7, MEGF10
8muscle organ developmentGO:00075178.8COL6A3, DMD, ITGA7, MEGF10, NEB

Molecular functions related to Congenital Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.2ACTA1, DMD
2structural constituent of muscleGO:00083079.7DMD, NEB

Sources for Congenital Myopathy

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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