MCID: CNG464
MIFTS: 42

Congenital Myopathy malady

Categories: Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Congenital Myopathy

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Aliases & Descriptions for Congenital Myopathy:

Name: Congenital Myopathy 10 45 22 46 12
Myopathy, Congenital 47 24
Batten Turner Congenital Myopathy 45
 
Myopathy - Congenital 46
Myopathy Congenital 45
Myotonia Congenita 65

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:0080100

Summaries for Congenital Myopathy

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NINDS:46 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, congenital, with fiber-type disproportion and bethlem myopathy 1, and has symptoms including myopathyand abnormality of the nervous system. An important gene associated with Congenital Myopathy is ITGA7 (Integrin Subunit Alpha 7), and among its related pathways are Cytoskeleton remodeling_RalA regulation pathway and Immune response CCR3 signaling in eosinophils. Affiliated tissues include skeletal muscle, testes and lung, and related mouse phenotypes are skeleton and behavior/neurological.

Wikipedia:68 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 Myopathy Due to Calsequestrin and Serca1 Protein Overload

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

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, congenital, with fiber-type disproportion33.1ACTA1, MYH7, RYR1, SEPN1
2bethlem myopathy 131.8COL6A3, SEPN1
3ullrich congenital muscular dystrophy 130.7COL6A3, SEPN1
4muscular dystrophy, rigid spine, 130.3ACTA1, SEPN1
5myasthenia gravis30.0COL6A3, RYR1
6minicore myopathy with external ophthalmoplegia29.5MYH7, NEB, RYR1, SEPN1
7cylindrical spirals myopathy29.5ACTA1, ITGA7, MYH7, RYR1, SEPN1
8congenital fiber-type disproportion29.2ACTA1, CFL2, CNTN1, COL6A3, HRAS, ITGA7
9congenital myopathy, paradas type12.3
10benign samaritan congenital myopathy12.3
11congenital myopathy with internal nuclei and atypical cores12.3
12congenital myopathy with myasthenic-like onset12.3
13costello syndrome11.9
14native american myopathy11.8
15myopathy, congenital, compton-north11.7
16myopathy, centronuclear11.7
17cap myopathy11.6
18actin-accumulation myopathy11.6
19becker muscular dystrophy11.3
20muscular dystrophy, congenital, due to itga7 deficiency11.1
21tpm3-related congenital fiber-type disproportion11.1
22central core disease10.9
23myopathy, areflexia, respiratory distress, and dysphagia, early-onset10.8
24myopathy, tubular aggregate, 110.7
25malignant hyperthermia susceptibility 110.7
26nemaline myopathy 3, autosomal dominant or recessive10.3
27myopathy, myosin storage, autosomal dominant10.3
28intermediate severe salla disease10.2ACTA1, NEB
29childhood-onset schizophrenia10.2ACTA1, NEB
30severe congenital neutropenia autosomal dominant10.2ACTA1, NEB
31endotheliitis10.2
32centronuclear myopathy 510.1
33nemaline myopathy 1010.1
34ullrich congenital muscular dystrophy 210.1
35ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.1
36immunodeficiency 910.1
37myopathy, tubular aggregate, 210.1
38nemaline myopathy 7, autosomal recessive10.1
39muscular dystrophy, congenital, 1b10.1
40muscular dystrophy-dystroglycanopathy , type c, 1410.1
41nemaline myopathy 5, amish type10.1
42muscular dystrophy, congenital, megaconial type10.1
43myopathy, centronuclear, autosomal recessive10.1
44myotubular myopathy, x-linked10.1
45muscular dystrophy-dystroglycanopathy10.1
46reducing body myopathy10.1
47nemaline myopathy10.1
48central core myopathy10.1
49multiminicore disease10.1
50adult-onset nemaline myopathy10.1

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



Diseases related to congenital myopathy

Symptoms for Congenital Myopathy

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HPO human phenotypes related to Congenital Myopathy:

id Description Frequency HPO Source Accession
1 myopathy HP:0003198
2 abnormality of the nervous system HP:0000707

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 73)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 41241859-67-039042
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
2IncobotulinumtoxinAPhase 4, Phase 3, Phase 2599
3OnabotulinumtoxinAPhase 4, Phase 3, Phase 2588
4AbobotulinumtoxinAPhase 4, Phase 3, Phase 2588
5Anticholesteremic AgentsPhase 41732
6Botulinum Toxins, Type APhase 4, Phase 3, Phase 2588
7AntimetabolitesPhase 49454
8Clofibric AcidPhase 419882-09-7
9Hypolipidemic AgentsPhase 42228
10
MexiletineapprovedPhase 3, Phase 21931828-71-44178
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 Hydrochloride
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
11
Lamotrigineapproved, investigationalPhase 317984057-84-13878
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
12
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
13
AcetylcholineexperimentalPhase 3, Phase 268951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
14AnestheticsPhase 37385
15Peripheral Nervous System AgentsPhase 3, Phase 218510
16Carbonic Anhydrase InhibitorsPhase 3153
17Neuromuscular AgentsPhase 3, Phase 2922
18Cholinergic AgentsPhase 3, Phase 23243
19Botulinum ToxinsPhase 3, Phase 2616
20AnticonvulsantsPhase 32249
21Sodium Channel BlockersPhase 3, Phase 21180
22Diuretics, Potassium SparingPhase 3, Phase 21445
23Anti-Arrhythmia AgentsPhase 3, Phase 22371
24calcium channel blockersPhase 31743
25Calcium, DietaryPhase 34678
26Excitatory Amino AcidsPhase 31109
27Excitatory Amino Acid AntagonistsPhase 31095
28Neurotransmitter AgentsPhase 3, Phase 214795
29
Ranolazineapproved, investigationalPhase 276142387-99-356959
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
30
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
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-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
31
chenodeoxycholic acidapprovedPhase 225474-25-910133
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
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
32
Resveratrolexperimental, investigationalPhase 2105501-36-0, 955365-80-724856436, 445154
Synonyms:
(E)-5-(2-(4-hydroxyphenyl)ethenyl)-1,3-benzenediol
(E)-5-(p-Hydroxystyryl)resorcinol
(E)-5-[2-(4-Hydroxyphenyl)ethenyl]-1,3-benzenediol
(E)-5-[2-(4-hydroxyphenyl)ethenyl]-1,3-benzendiol
(E)-resveratrol
 
3,4',5-Stilbenetriol
3,4',5-Trihydroxystilbene
3,4',5-trihydroxy-stilbene
MK-1775
trans-3,4',5 - Trihydroxystilbene
trans-3,4',5-trihydroxystilbene
trans-Resveratrol
33Pharmaceutical SolutionsPhase 27004
34AnalgesicsPhase 29358
35Anti-Infective AgentsPhase 1, Phase 217220
36AntioxidantsPhase 1, Phase 22442
37HemagglutininsPhase 2111
38Antiviral AgentsPhase 1, Phase 28071
39ExpectorantsPhase 1, Phase 2337
40N-monoacetylcystinePhase 1, Phase 2293
41Respiratory System AgentsPhase 1, Phase 23931
42Protective AgentsPhase 1, Phase 25651
43Gastrointestinal AgentsPhase 26401
44LaxativesPhase 2344
45CatharticsPhase 2344
46Platelet Aggregation InhibitorsPhase 21935
47Anti-Inflammatory AgentsPhase 28478
48Analgesics, Non-NarcoticPhase 25184
49Atorvastatin CalciumPhase 2714134523-03-8
50Anti-Inflammatory Agents, Non-SteroidalPhase 23549

Interventional clinical trials:

(show top 50)    (show all 66)
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 Functional Electrical Stimulation on Gait in Children With Cerebral PalsyNot yet recruitingNCT02462018Phase 4
4Mexiletine and Non Dystrophic MyotoniasCompletedNCT02336477Phase 3
5Lamotrigine as Treatment of MyotoniaCompletedNCT01939561Phase 3
6Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel DisordersCompletedNCT00004802Phase 3
7Efficacy Study of Selective Tibial Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic PatientsCompletedNCT00825097Phase 3
8Clinical Trial of a Serious Game for Individuals With SCI/DRecruitingNCT02341950Phase 3
9Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic ParaplegiaNot yet recruitingNCT02604186Phase 2, Phase 3
10Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular DisordersTerminatedNCT00839033Phase 3
11Low Protein Diet in Patients With Collagen VI Related MyopathiesCompletedNCT01438788Phase 2
12Effects of Power Mobility on Young Children With Severe Motor ImpairmentsCompletedNCT01028833Phase 2
13Antioxidant Therapy in RYR1-Related Congenital MyopathyRecruitingNCT02362425Phase 1, Phase 2
14Study of Ranolazine in Myotonia Congenita and Paramyotonia CongenitaRecruitingNCT02251457Phase 2
15Treatment With Xeomin Versus Botox in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral PalsyRecruitingNCT02188277Phase 2
16Pediatric Radio Frequency Coils GenericRecruitingNCT01633866Phase 1, Phase 2
17Mexiletine for Muscle Cramps in Charcot Marie Tooth DiseaseRecruitingNCT02561702Phase 2
18Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5Active, not recruitingNCT02314208Phase 2
19Treatment of TNNT1-Myopathy With L-Tyrosine.Enrolling by invitationNCT02035501Phase 2
20Congenital 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
21Aerobic Training in Patients With Congenital MyopathiesCompletedNCT02020187
22Natural History in CCFDN and IBM SyndromesCompletedNCT01902940
23Characteristics of Nondystrophic MyotoniasCompletedNCT00244413
24Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to TreatmentCompletedNCT00499070
25Relations Between Myotonia and FitnessCompletedNCT02161835
26MRI and Muscle Involvement in Patients With Mutations in GMPPBCompletedNCT02635321
27Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus FootCompletedNCT01265238
28Treatment of Spastic Equinovarus Foot After StrokeCompletedNCT00199589
29A Randomized Exercise Trial for Wheelchair UsersCompletedNCT00866112
30Compare the Medical Conditions of Gulf War Veterans to Non-Deployed VeteransCompletedNCT00032461
31Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral SclerosisCompletedNCT00023075
32Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
33Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
34Myotubular Myopathy Genetic Testing StudyRecruitingNCT01817946
35Myotonic Dystrophy Family RegistryRecruitingNCT02398786
36Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
37European Home Mechanical Ventilation RegistryRecruitingNCT02315339
38Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy RegistryRecruitingNCT00082108
39T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
40Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)RecruitingNCT02453152
41Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)RecruitingNCT02057705
42A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)RecruitingNCT02231697
43Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
44Genetic and Physical Study of Childhood Nerve and Muscle DisordersRecruitingNCT01568658
45Calibration and Validation of the PROMIS and Neuro-QOL Questionnaires in Cerebral Palsy and Congenital Muscular DystrophyRecruitingNCT02153970
46The Savella Pregnancy RegistryRecruitingNCT01026077
47Flu Vaccine Study in Neuromuscular Patients 2011RecruitingNCT01422200
48Clinical Trial Readiness for the DystroglycanopathiesRecruitingNCT00313677
49Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsRecruitingNCT01306994
50Effectiveness of Manual Manipulation With EPAT on Ankle Dorsiflexion and Dynamic Plantar PressureRecruitingNCT02233140

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 Myopathy22

Anatomical Context for Congenital Myopathy

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MalaCards organs/tissues related to Congenital Myopathy:

33
Skeletal muscle, Testes, Lung, Brain, Heart, T cells, Endothelial

Animal Models for Congenital Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Congenital Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053906.7ACTA1, COL6A3, HRAS, ITGA7, MTM1, NEB
2MP:00053866.6ACTA1, CFL2, CNTN1, HRAS, ITGA7, MTM1
3MP:00053696.0ACTA1, CFL2, CNTN1, COL6A3, ITGA7, MTM1
4MP:00053785.7ACTA1, CFL2, CNTN1, COL6A3, HRAS, ITGA7

Publications for Congenital Myopathy

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Articles related to Congenital Myopathy:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Portal Annular Pancreas With Retroportal Pancreatic Duct Diagnosed With Endoscopic Ultrasound. (25937363)
2015
2
Can apical periodontitis affect serum levels of CRP, IL-2, and IL-6 as well as induce pathological changes in remote organs? (26556576)
2015
3
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. (25709896)
2015
4
Is Intermittent Androgen Deprivation Therapy Beneficial For Advanced Prostate Cancer Patients? (24433259)
2014
5
Effects of regular treatment with combination of salmeterol/fluticasone propionate and salmeterol alone in cough variant asthma. (25329681)
2014
6
Up-regulation of stomatin expression by hypoxia and glucocorticoid stabilizes membrane-associated actin in alveolar epithelial cells. (23672602)
2013
7
Expression of polycomb targets predicts breast cancer prognosis. (23918806)
2013
8
Intellectual disability and space: critical narratives of exclusion. (23360410)
2013
9
Baked egg food challenges - clinical utility of skin test to baked egg and ovomucoid in children with egg allergy. (24074337)
2013
10
Cholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia. (22301700)
2012
11
Letter: Skin cancer treatment fee comparisons inaccurate. (23205547)
2012
12
Dietary fiber intake modulates the association between variants in TCF7L2 and weight loss during a lifestyle intervention. (22355027)
2012
13
Utility of desmoglein ELISA in the clinical correlation and disease monitoring of pemphigus vulgaris. (21981406)
2012
14
Effectiveness of high-dose methotrexate in T-cell lymphoblastic leukemia and advanced-stage lymphoblastic lymphoma: a randomized study by the Children's Oncology Group (POG 9404). (21474675)
2011
15
Isolated pulmonary Langerhans cell histiocytosis in a 3-year-old girl with atypical radiologic findings. (20829715)
2011
16
Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1). (21873672)
2011
17
Angiotensin-converting enzyme gene I/D genotype affected metoprolol-induced reduction in 24-hour average heart rate. (20819590)
2010
18
Correlation between stress, stress-coping and current sleep bruxism. (20205705)
2010
19
Declining sperm counts and increases in testicular cancer: a legacy of the cold war? (19096089)
2009
20
Synergistic action of vitamin D and retinoic acid restricts invasion of macrophages by pathogenic mycobacteria. (18327422)
2008
21
Intrathecal upregulation of IFN-gamma and MIP-1beta in juvenile muscular atrophy of the distal upper extremity. (18723190)
2008
22
Langerhans cell histiocytosis presenting with hypopigmented macules. (19172009)
2008
23
Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer. (17666659)
2007
24
Survival of priceless cells: active and passive protection of embryonic stem cells against immune destruction. (17459325)
2007
25
Prevalence of pseudoneurologic conversion disorder in an urban community in Manisa, Turkey. (17639308)
2007
26
Prevalence of BRCA1 and BRCA2 genomic rearrangements in a cohort of consecutive Italian breast and/or ovarian cancer families. (17333342)
2007
27
Successful treatment of follicular cutaneous T-cell lymphoma without mucinosis with narrow-band UVB irradiation. (17714145)
2007
28
Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. (17244376)
2007
29
Encephalitozoon hellem infection as the cause of a unilateral chronic keratoconjunctivitis in an umbrella cockatoo (Cacatua alba). (16409247)
2006
30
Identification of translational release factor eRF1a binding sites on eRF3 in Euplotes octocarinatus. (16963230)
2006
31
Src phosphorylation of Alix/AIP1 modulates its interaction with binding partners and antagonizes its activities. (15557335)
2005
32
Metals accelerate the formation and direct the structure of amyloid fibrils of NAC. (16087241)
2005
33
Coamplification and coexpression of GRB7 and ERBB2 is found in high grade intraepithelial neoplasia and in invasive Barrett's carcinoma. (15386389)
2004
34
E6AP gene suppression and characterization with in vitro selected hammerhead ribozymes. (12944990)
2003
35
Familial antithrombin-III deficiency during cardiopulmonary bypass: a case report. (11131221)
2000
36
Insulin autoimmune syndrome: a rare cause of hypoglycaemia not to be overlooked. (10592867)
1999
37
Klippel-Trenaunay-Weber syndrome with adrenal pseudocyst: characterization by blood pool and adrenocortical iodocholesterol scintigraphy. (9712387)
1998
38
Cloning, expression, and characterization of a novel phospholipase D complementary DNA from rat brain. (9111050)
1997
39
Calcium-dependent signaling pathways in T cells. Potential role of calpain, protein tyrosine phosphatase 1b, and p130Cas in integrin-mediated signaling events. (9407132)
1997
40
Clomiphene citrate reduces serum insulin-like growth factor I and increases sex hormone-binding globulin levels in women with polycystic ovary syndrome. (7750589)
1995
41
Induction of intercellular adhesion molecule-1 by monocyte adhesion to endothelial cells in human culture system. (7622579)
1995
42
Anti-glutamate decarboxylase and other antibodies at the onset of childhood IDDM: a population-based study. (7867883)
1994
43
Characterization of cAMP-dependent inhibition of LPS-induced TNF alpha production by rolipram, a specific phosphodiesterase IV (PDE IV) inhibitor. (7843852)
1994
44
Serum levels of soluble interleukin-2 receptor in patients with systemic lupus erythematosus and systemic idiopathic vasculitis. (8235490)
1993
45
Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis. (1379698)
1992
46
The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis. (2966450)
1988
47
Lymphomatoid granulomatosis of the lung: report of a case. (3441422)
1987
48
Exencephaly in araucana chickens and silkie bantams. (4026741)
1985
49
Meconium ileus equivalent in an infant, aggravated by soy bean formula. (556982)
1977
50
Klippel-Feil syndrome with multiple cysts of the jawbones. (14929542)
1952

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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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:00316749.8CFL2, RYR1

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

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:00487419.7RYR1, SEPN1

Sources for Congenital Myopathy

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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