MCID: MYP101
MIFTS: 53

Myopathy, Centronuclear malady

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

Aliases & Classifications for Myopathy, Centronuclear

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Aliases & Descriptions for Myopathy, Centronuclear:

Name: Myopathy, Centronuclear 51 25 12
Centronuclear Myopathy 11 47 25 26 49 13 67
Autosomal Dominant Centronuclear Myopathy 47 53
Myotubular Myopathy, Autosomal Dominant 47 24
Autosomal Dominant Myotubular Myopathy 69 67
Myopathy, Centronuclear, 1 47 69
Centronuclear Myopathy 1 24 26
Myotubular Myopathy 11 26
Ad-Cnm 47 53
 
Cnm1 24 69
Centronuclear Myopathy, Autosomal, Modifier of 51
Myopathy, Centronuclear, Autosomal Dominant 67
Centronuclear Myopathy, Autosomal Dominant 24
Centronuclear Myopathy Autosomal Dominant 69
Dnm2-Related Centronuclear Myopathy 47
Myopathies, Structural, Congenital 38
Congenital Structural Myopathy 67
Cnm 25

Characteristics:

Orphanet epidemiological data:

53
autosomal dominant centronuclear myopathy:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy

HPO:

63
myopathy, centronuclear:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM51 160150
Disease Ontology11 DOID:14717
MeSH38 D020914
NCIt44 C84648
SNOMED-CT61 193223007, 82077006
Orphanet53 ORPHA169189
ICD10 via Orphanet30 G71.2
MedGen36 C1834558

Summaries for Myopathy, Centronuclear

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OMIM:51 Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular... (160150) more...

MalaCards based summary: Myopathy, Centronuclear, also known as centronuclear myopathy, is related to myopathy, centronuclear, autosomal recessive and myopathy, centronuclear, 3, and has symptoms including muscular hypotonia, gait disturbance and skeletal muscle atrophy. An important gene associated with Myopathy, Centronuclear is DNM2 (Dynamin 2), and among its related pathways are Striated Muscle Contraction and Inositol phosphate metabolism (KEGG). Affiliated tissues include skeletal muscle, eye and testes, and related mouse phenotypes are cardiovascular system and muscle.

Disease Ontology:11 A myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.

Genetics Home Reference:25 Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.

NIH Rare Diseases:47 Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. Although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. In more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. These children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. Most cases of AD-CNM are caused by changes (mutations) in the DNM2 gene; however, some affected families are reported to have mutations in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing. Last updated: 8/5/2015

UniProtKB/Swiss-Prot:69 Myopathy, centronuclear, 1: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.

Wikipedia:70 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Related Diseases for Myopathy, Centronuclear

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Diseases in the Myopathy, Centronuclear family:

Centronuclear Myopathy 5 Myopathy, Centronuclear, 3
Myopathy, Centronuclear, 4 Myopathy, Centronuclear, Autosomal Recessive

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy, centronuclear, autosomal recessive12.3
2myopathy, centronuclear, 312.3
3myopathy, centronuclear, 412.3
4centronuclear myopathy 511.6
5myotubular myopathy, x-linked11.6
6child syndrome10.6DNM2, MTM1
7hermansky-pudlak syndrome 510.6MTM1, SBF2
8brachial plexus neuropathy10.5DNM2, MTM1
9d ercole syndrome10.5DES, DMD
10autistic disorder10.5MTM1, MTMR14, TTN
11dravet syndrome10.4BIN1, SPEG, TTN
12myopathy10.4
13gallbladder sarcoma10.4DES, MYF6
14muscular dystrophy, rigid spine, 110.4DMD, TTN
15charcot-marie-tooth neuropathy x type 110.4MTMR2, SBF1, SBF2
16charcot-marie-tooth neuropathy dominant intermediate f10.3DNM2, SBF1, SBF2
17myostatin-related muscle hypertrophy10.3DES, DMD
18classic variant of chromophobe renal cell carcinoma10.3DMD, DNM2, MTM1, RYR1
19unverricht-lundborg syndrome10.3MTM1, RYR1
20epilepsy, generalized, with febrile seizures plus, type 110.3DES, DMD, RYR1
21familial hyperaldosteronism10.3MTM1, MTMR2, SBF1, SBF2
22longitudinal vaginal septum10.2DES, DMD, TTN
23myopathy, lactic acidosis, and sideroblastic anemia10.2DMD, TTN
24amnestic disorder10.2DNM2, MTMR2, SBF1, SBF2
25microcephaly and chorioretinopathy 110.2DMD, HACD1, RYR1
26usher syndrome10.1DES, DMD, TTN
27myopathy, congenital, with fiber-type disproportion10.1HACD1, RYR1
28myelodysplastic myeloproliferative cancer10.0RYR1, TTN
29ectodermal dysplasia10.0DES, DMD, SPEG, TTN
30occupational dermatitis9.9DES, DMD, MTMR2, RYR1, TTN
31childhood-onset cerebral x-linked adrenoleukodystrophy9.7DNM2, MTM1, MTMR1, MTMR2, SBF1, SBF2
32extraosseous ewing's sarcoma9.5DES, DNM2, MTM1, MTMR14, MYF6, RYR1
33adams-oliver syndrome 26.2ACP1, BIN1, CCDC78, CDKN3, DES, DMD

Graphical network of the top 20 diseases related to Myopathy, Centronuclear:



Diseases related to myopathy, centronuclear

Symptoms for Myopathy, Centronuclear

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Symptoms by clinical synopsis from OMIM:

160150

Clinical features from OMIM:

160150

Human phenotypes related to Myopathy, Centronuclear:

 63 (show all 22)
id Description HPO Frequency HPO Source Accession
1 muscular hypotonia63 hallmark (90%) HP:0001252
2 gait disturbance63 hallmark (90%) HP:0001288
3 skeletal muscle atrophy63 hallmark (90%) HP:0003202
4 emg abnormality63 hallmark (90%) HP:0003457
5 mask-like facies63 typical (50%) HP:0000298
6 ptosis63 typical (50%) HP:0000508
7 ophthalmoparesis63 typical (50%) HP:0000597
8 seizures63 typical (50%) HP:0001250
9 reduced tendon reflexes63 typical (50%) HP:0001315
10 respiratory insufficiency63 typical (50%) HP:0002093
11 scoliosis63 typical (50%) HP:0002650
12 arrhythmia63 typical (50%) HP:0011675
13 skeletal muscle hypertrophy63 rare (5%) HP:0003712
14 external ophthalmoplegia63 HP:0000544
15 motor delay63 HP:0001270
16 areflexia63 HP:0001284
17 flexion contracture63 HP:0001371
18 easy fatigability63 HP:0003388
19 centrally nucleated skeletal muscle fibers63 HP:0003687
20 proximal muscle weakness63 HP:0003701
21 sleepy facial expression63 HP:0005335
22 facial palsy63 HP:0010628

UMLS symptoms related to Myopathy, Centronuclear:


muscle cramp, muscle rigidity, muscle spasticity, muscle weakness, myalgia, facial paresis, ophthalmoparesis

Drugs & Therapeutics for Myopathy, Centronuclear

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1tyrosineNutraceuticalPhase 2659
2
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
3
Adenosineapproved, investigational39758-61-760961
Synonyms:
(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-D-Ribofuranose
1-(6-Amino-9H-purin-9-yl)-1-deoxy-beta-delta-Ribofuranose
1odi
2fqy
2gl0
30143-02-3
4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside
46946-45-6
46969-16-8
58-61-7
6-Amino-9-.beta.-ribofuranosyl-9H-purine
6-Amino-9-beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-D-ribofuranosyl-9H-purine
6-Amino-9beta-delta-ribofuranosyl-9H-purine
9-(beta-D-Arabinofuranosyl)adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-Ribofuranosidoadenine
9-beta-D-Ribofuranosyl-9H-purin-6-amine
9-beta-D-Ribofuranosyladenine
9-beta-delta-Arabinofuranosyladenine
9-beta-delta-Ribofuranosidoadenine
9-beta-delta-Ribofuranosyl-9H-purin-6-amine
9-beta-delta-Ribofuranosyladenine
9beta-D-Ribofuranosyladenine
9beta-D-ribofuranosyl-9H-Purin-6-amine
9beta-delta-Ribofuranosyladenine
9beta-delta-ribofuranosyl-9H-Purin-6-amine
A0152
A4036_SIGMA
A9251_SIGMA
AC1L1U8O
AC1Q1ID3
AC1Q52XU
ADN
AI3-52413
Ade-Rib
Ade-rib
Adenin riboside
Adenine 9-beta-D-arabinofuranoside
Adenine deoxyribonucleoside
Adenine nucleoside
Adenine riboside
Adenine-9-beta-D-ribofuranoside
Adenine-9beta-D-Ribofuranoside
Adenine-9beta-delta-Ribofuranoside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosina
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine, homopolymer
Adenosinum
Adensoine
Adenyldeoxyriboside
Ado
Adénosine
BB_NC-0565
BSPBio_001796
Bio1_000437
 
Bio1_000926
Bio1_001415
Boniton
C00212
CCRIS 2557
CHEBI:16335
CHEMBL477
CID60961
Caswell No. 010B
D000241
D00045
DB00640
Deoxyadenosine
Desoxyadenosine
EA6C60C2-6AFB-4264-A2F0-541373DB950E
EINECS 200-389-9
FT-0082881
HMS1920A13
HMS2091G13
KBio3_001296
LS-15085
MEDR-640
MLS000069638
MLS002153227
MolPort-001-838-229
Myocol
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NSC 627048
NSC 7652
NSC627048
NSC7652
Nucleocardyl
Pallacor
Polyadenosine
Polyriboadenosine
S1647_Selleck
SDCCGMLS-0003108.P003
SMR000058216
SPBio_001194
SPECTRUM1500107
SR 96225
SR-96225
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum3_000288
TL8003749
UNII-K72T3FS567
USAF CB-10
V0098
Vidarabine
ZINC02169830
adenine-D-ribose
adenosine
b-D-Adenosine
beta-Adenosine
beta-D-Adenosine
beta-D-Ribofuranoside, adenine-9
beta-delta-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.2007.56-comp13
nchembio.64-comp4
nchembio706-5
4Vasodilator Agents3438
5Peripheral Nervous System Agents22776
6Anti-Arrhythmia Agents2969
7Analgesics11287
8Neurotransmitter Agents17734

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Treatment of TNNT1-Myopathy With L-Tyrosine.Unknown statusNCT02035501Phase 2
2Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related ConditionsUnknown statusNCT01306994
3Myotubular Myopathy Genetic Testing StudyRecruitingNCT01817946
4Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)RecruitingNCT02057705
5A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) SubjectsRecruitingNCT02704273
6A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)RecruitingNCT02231697
7Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
8Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
9Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle DiseasesRecruitingNCT03018184
10Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)Active, not recruitingNCT02453152
11Myotubular Myopathy Event StudyActive, not recruitingNCT01840657
12Cohort Description of Younger With AV-blockNot yet recruitingNCT03024047
13LAMA2-related Muscular Dystrophy Brain StudyWithdrawnNCT01952028

Search NIH Clinical Center for Myopathy, Centronuclear


Cochrane evidence based reviews: myopathies, structural, congenital

Genetic Tests for Myopathy, Centronuclear

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Genetic tests related to Myopathy, Centronuclear:

id Genetic test Affiliating Genes
1 Myotubular Myopathy26
2 Myopathy, Centronuclear, 126
3 Myopathy, Centronuclear26
4 Centronuclear Myopathy 124 DNM2

Anatomical Context for Myopathy, Centronuclear

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MalaCards organs/tissues related to Myopathy, Centronuclear:

35
Skeletal muscle, Eye, Testes, Brain

Animal Models for Myopathy, Centronuclear or affiliated genes

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MGI Mouse Phenotypes related to Myopathy, Centronuclear:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.3BIN1, DES, DMD, DNM2, MTM1, MTMR14
2MP:00053698.3BIN1, DES, DMD, DNM2, MTM1, MTMR14

Publications for Myopathy, Centronuclear

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Articles related to Myopathy, Centronuclear:

idTitleAuthorsYear
1
Pathological cases of the month. Myotubular myopathy (centronuclear myopathy). (8352228)
1993

Variations for Myopathy, Centronuclear

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UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear:

69 (show all 19)
id Symbol AA change Variation ID SNP ID
1DNM2p.Glu368LysVAR_031962rs121909092
2DNM2p.Arg369GlnVAR_031963rs121909089
3DNM2p.Arg369TrpVAR_031964rs121909090
4DNM2p.Arg465TrpVAR_031965rs121909091
5DNM2p.Ala618ThrVAR_039041
6DNM2p.Ser619LeuVAR_039042rs121909095
7DNM2p.Ser619TrpVAR_039043rs121909095
8DNM2p.Glu650LysVAR_062576
9DNM2p.Glu368GlnVAR_068365
10DNM2p.Arg522CysVAR_068366
11DNM2p.Arg522HisVAR_068367rs587783595
12DNM2p.Arg523GlyVAR_068368rs587783596
13DNM2p.Glu560LysVAR_068369
14DNM2p.Ala618AspVAR_068370
15DNM2p.Leu621ProVAR_068371rs587783597
16DNM2p.Pro627HisVAR_068372
17DNM2p.Pro627ArgVAR_068373rs587783598
18MTMR14p.Arg336GlnVAR_033370rs121434509
19MTMR14p.Tyr462CysVAR_033371rs121434510

Clinvar genetic disease variations for Myopathy, Centronuclear:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DNM2NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln)SNVPathogenicrs121909089GRCh37Chr 19, 10904509: 10904509
2DNM2NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp)SNVPathogenicrs121909090GRCh37Chr 19, 10904508: 10904508
3DNM2NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp)SNVPathogenicrs121909091GRCh37Chr 19, 10909219: 10909219
4DNM2NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys)SNVPathogenicrs121909092GRCh37Chr 19, 10904505: 10904505
5DNM2NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu)SNVPathogenicrs121909095GRCh37Chr 19, 10934538: 10934538

Copy number variations for Myopathy, Centronuclear from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
141408101767196317699379InsertionPTPLACentronuclear myopathy

Expression for genes affiliated with Myopathy, Centronuclear

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Search GEO for disease gene expression data for Myopathy, Centronuclear.

Pathways for genes affiliated with Myopathy, Centronuclear

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GO Terms for genes affiliated with Myopathy, Centronuclear

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Cellular components related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vacuolar membraneGO:000577410.4MTMR2, SBF2
2I bandGO:00316749.9BIN1, MTM1, RYR1, TTN
3sarcolemmaGO:00423839.5CCDC78, DES, DMD
4Z discGO:00300189.5BIN1, DES, DMD, TTN

Biological processes related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nucleus localizationGO:005164710.2BIN1, DMD
2phosphatidylinositol dephosphorylationGO:004685610.2MTM1, MTMR1, MTMR2
3muscle cell cellular homeostasisGO:004671610.1DMD, MTM1
4protein dephosphorylationGO:000647010.0MTM1, MTMR2, SBF1
5phosphatidylinositol metabolic processGO:00464889.9MTMR2, PLEK
6phosphatidylinositol biosynthetic processGO:00066619.9MTM1, MTMR1, MTMR14, MTMR2
7intermediate filament organizationGO:00451099.9DES, MTM1
8muscle cell differentiationGO:00426929.8BIN1, DMD, SPEG
9muscle filament slidingGO:00300499.7DES, DMD, TTN
10muscle contractionGO:00069369.4DES, RYR1, TTN
11peptidyl-tyrosine dephosphorylationGO:00353358.5ACP1, CDKN3, MTM1, MTMR1, MTMR14, MTMR2

Molecular functions related to Myopathy, Centronuclear according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatase regulator activityGO:001920810.4SBF1, SBF2
2nitric-oxide synthase bindingGO:005099810.1DMD, DNM2
3phosphatidylinositol-3,5-bisphosphate 3-phosphatase activityGO:00526299.9MTM1, MTMR1, MTMR14, MTMR2
4phosphatidylinositol-3-phosphatase activityGO:00044389.9MTM1, MTMR1, MTMR14, MTMR2
5protein tyrosine/serine/threonine phosphatase activityGO:00081389.8CDKN3, MTMR2, SBF1
6protein tyrosine phosphatase activityGO:00047259.1CDKN3, MTM1, MTMR1, MTMR14, MTMR2

Sources for Myopathy, Centronuclear

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
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26GTR
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