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MCID: CNT004
MIFTS: 55

Centronuclear Myopathy malady

Neuronal category
1 symptom, 37 genes, 2 tissues, 66 related diseases, clinical trials, genetic tests.

Summaries for Centronuclear Myopathy

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21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Centronuclear myopathy is a condition that primarily affects skeletal muscles, which are the muscles that are used for movement. Researchers have described two forms of centronuclear myopathy, which are differentiated by their pattern of inheritance: autosomal dominant and autosomal recessive.

MalaCards: Centronuclear Myopathy, also known as myotubular myopathy, is related to centronuclear myopathy 1 and myopathy congenital. An important gene associated with Centronuclear Myopathy is DNM2 (dynamin 2), and among its related pathways are Synthesis of PIPs at the early endosome membrane and PI Metabolism. The compounds alpha-bungarotoxin and ptdins(3)p have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related mouse phenotypes are cardiovascular system and behavior/neurological.

Wikipedia:64 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Description from OMIM:47 160150,614408,255200

Aliases & Classifications for Centronuclear Myopathy

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 9diseasecard, 47OMIM, 22GTR, 49Orphanet, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal
ICD10: 26


Characteristics (Orphanet epidemiological data):

49
autosomal dominant centronuclear myopathy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

centronuclear myopathy 8 43 21 10 45 61
myotubular myopathy 8 43 21
autosomal recessive centronuclear myopathy 21 61
myopathy, centronuclear 9 47
myopathy, myotubular 43 22
myopathy, centronuclear, autosomal recessive 47
autosomal dominant centronuclear myopathy 49
autosomal dominant myotubular myopathy 21
myotubular myopathy 1 21
ad-cnm 49


External Ids:

Disease Ontology8 DOID:14717
MeSH35 D020914
SNOMED-CT57 82077006, 193223007
ICD10 via Orphanet26 G71.2

Related Diseases for Centronuclear Myopathy

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17GeneCards, 18GeneDecks
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Diseases in the Centronuclear Myopathy family:

centronuclear myopathy 2 centronuclear myopathy 1
centronuclear myopathy 3 centronuclear myopathy 4

Diseases related to Centronuclear Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1centronuclear myopathy 130.7MTMR14, DNM2
2myopathy congenital30.4DMD, MTM1, DES, DNM2, RYR1, TTN
3central core myopathy30.2RYR1, DES
4nemaline myopathy30.2RYR1, DES
5x-linked centronuclear myopathy10.6
6centronuclear myopathy, autosomal, modifier of10.5
7centronuclear myopathy 210.5
8centronuclear myopathy 410.5
9myotonia10.5
10peliosis hepatis10.4
11centronuclear myopathy 310.4
12congenital myotonic dystrophy10.3
13casp10-related autoimmune lymphoproliferative syndrome10.3
14intrahepatic cholestasis10.2
15muscular atrophy10.2
16spinal muscular atrophy10.2
17tooth disease10.2
18char syndrome10.2
19nemaline myopathy 510.2
20nemaline myopathy 110.2
21marfan syndrome10.1
22micro syndrome10.1
23congenital fiber-type disproportion10.1
24vacuolar myopathy10.1
25rod myopathy10.1
26mental retardation10.1
27myofibrillar myopathy10.0DES
28dystrophinopathies10.0DMD
29noonan syndrome10.0ACP1
30charcot-marie-tooth neuropathy type 410.0SBF2, MTMR2
31rippling muscle disease10.0CAV3
32rhabdoid tumor10.0DES
33bubonic plague10.0CDKN3, ACP1
34glaucoma10.0SBF2, MTMR2
35thymoma10.0RYR1, TTN
36hypertrophic cardiomyopathy10.0TTN
37sarcoma10.0DES, ACP1
38emery-dreifuss muscular dystrophy10.0NCAM1, DMD
39myasthenia gravis10.0DMD, RYR1, TTN
40limb-girdle muscular dystrophy, type 2g10.0TTN, DMD
41myotonic dystrophy10.0RYR1, MTM1, DMD
42charcot-marie-tooth disease type 4b110.0MTM1, MTMR2, CDKN3, SBF2
43polymyositis10.0TTN, NCAM1, DMD
44limb-girdle muscular dystrophy, type 2b10.0CAV3, DMD, TTN
45limb-girdle muscular dystrophy, type 1a10.0TTN, CAV3
46calpainopathy10.0CAV3, DMD, TTN
47neuroblastoma10.0NCAM1
48limb-girdle muscular dystrophy10.0TTN, DMD, CAV3
49chordoma10.0NCAM1, DES
50limb-girdle muscular dystrophy type 2f10.0TTN, DMD

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



Diseases related to centronuclear myopathy

Clinical Features for Centronuclear Myopathy

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47OMIM
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Clinical features from OMIM:

160150,614408,255200

Clinical synopsis from OMIM:

255200

Drugs & Therapeutics for Centronuclear Myopathy

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Centronuclear Myopathy

Drug clinical trials:

Search ClinicalTrials for Centronuclear Myopathy

Search NIH Clinical Center for Centronuclear Myopathy

Search CenterWatch for Centronuclear Myopathy

Genetic Tests for Centronuclear Myopathy

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22GTR
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Genetic tests related to Centronuclear Myopathy:

id Genetic test Affiliating Genes
1 Myotubular Myopathy22

Anatomical Context for Centronuclear Myopathy

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33MalaCards
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MalaCards organs/tissues related to Centronuclear Myopathy:

33
Heart, Skeletal muscle

Animal Models for Centronuclear Myopathy or affiliated genes

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37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Centronuclear Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
cardiovascular system phenotype
MP:00053859.4DMD, MTM1, MTMR14, DES, RYR1, BIN1
2
behavior/neurological phenotype
MP:00053869.3MTMR14, MTMR2, MTM1, DMD, DES, NCAM1
3
muscle phenotype
MP:00053699.1SRPK3, CAV3, DMD, MTM1, MTMR14, DES
4
homeostasis/metabolism phenotype
MP:00053769.1MTMR14, MTM1, DMD, CAV3, DES, MYF6
5
cellular phenotype
MP:00053849.1NCAM1, MTM1, DMD, CAV3, DNM2, RYR1
6
growth/size phenotype
MP:00053789.0NCAM1, MTMR2, MTM1, DMD, MYF6, DNM2
7
mortality/aging
MP:00107688.8DES, MTMR2, MTM1, DMD, NCAM1, MYF6

Publications for Centronuclear Myopathy

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51PubMed
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Articles related to Centronuclear Myopathy:

(show top 50)    (show all 142)
idTitleAuthorsYear
1
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? (23975873)
2013
2
Muscle-specific function of the centronuclear myopathy and Charcot-Marie-Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves. (23813975)
2013
3
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. (23975875)
2013
4
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. (22924779)
2013
5
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice. (22369075)
2012
6
Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. (23071563)
2012
7
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. (21514436)
2011
8
Dilated cardiomyopathy with centronuclear myopathy in a young male. (21658785)
2011
9
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. (22096584)
2011
10
Mice lacking microRNA 133a develop dynamin 2a89dependent centronuclear myopathy. (21737882)
2011
11
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation. (21247764)
2011
12
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. (21129173)
2010
13
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. (19932619)
2010
14
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. (20817456)
2010
15
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. (20476667)
2009
16
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. (19084976)
2009
17
Genetic testing for all forms of myotubular/centronuclear myopathy. (18402390)
2008
18
Myotubular/centronuclear myopathy and central core disease. (18974559)
2008
19
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (17932957)
2007
20
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (17676042)
2007
21
An atypical presentation of sporadic adult-onset centronuclear myopathy. (17290936)
2007
22
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. (17825552)
2007
23
Mutations in dynamin 2 cause dominant centronuclear myopathy. (16227997)
2005
24
X-linked centronuclear myopathy. (12874727)
2003
25
Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset. (9686113)
1998
26
Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset. (9667782)
1998
27
Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy. (8173354)
1994
28
Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. (1822797)
1991
29
Severe neonatal asphyxia due to X-linked centronuclear myopathy. (2279510)
1990
30
Adult-onset centronuclear myopathy: evidence against a neurogenic pathology. (2816279)
1989
31
X-linked centronuclear myopathy as a cause of floppy baby. (3817270)
1987
32
Centronuclear myopathy in black African children--report of 4 cases. (3696389)
1987
33
Centronuclear myopathy with unusual clinical picture. (3569369)
1987
34
Life-threatening congestive heart failure as the presentation of centronuclear myopathy. (3508053)
1987
35
Familial X-linked centronuclear myopathy. (3804673)
1986
36
Centronuclear myopathy, cataract, and electrical myotonia: a new case. (4079961)
1985
37
Centronuclear myopathy with unusual mitochondrial abnormalities. (2983917)
1985
38
Centronuclear myopathy with special consideration of the adult form. (6542524)
1984
39
Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report. (6851300)
1983
40
Infantile centronuclear myopathy. Evidence suggesting incomplete innervation. (6875615)
1983
41
Myopathy with pathological features of both centronuclear myopathy and multicore disease. (7161626)
1982
42
Type I fiber atrophy and internal nuclei. A form of centronuclear myopathy? (6213218)
1982
43
Centronuclear myopathy with type I fibre hypotrophy and "fingerprint" inclusions associated with Marfan's syndrome. (6244371)
1980
44
Crural hypertrophy associated with centronuclear myopathy. (157387)
1979
45
Histochemical and ultrastructural findings in a case of centronuclear myopathy. (154406)
1978
46
Familial centronuclear myopathy associated with 'cardiomyopathy'. (131568)
1976
47
Centronuclear myopathy: a light and electron microscopic study and a review of the literature. (4741006)
1973
48
Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature. (5037445)
1972
49
Centronuclear myopathy with type I fiber atrophy and "myotubes". (4246348)
1970
50
Centronuclear myopathy. (5711397)
1968

Genetic Variations for Centronuclear Myopathy

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63UniProtKB/Swiss-Prot
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Genetic disease variations for Centronuclear Myopathy:

63
id Symbol AA change Variation SNP ID
1BIN1p.Lys35AsnVAR_037425
2BIN1p.Asp151AsnVAR_037426

Expression for genes affiliated with Centronuclear Myopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Centronuclear Myopathy

Search GEO for disease gene expression data for Centronuclear Myopathy.

Pathways for genes affiliated with Centronuclear Myopathy

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54Reactome, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Centronuclear Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Synthesis of PIPs at the early endosome membrane54
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10.2MTMR2, MTM1
2
PI Metabolism54
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10.1MTMR14, MTMR2, MTM1
3
Hypertrophic cardiomyopathy (HCM)30
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10.0TTN, DES, DMD
4
Striated Muscle Contraction38
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10.0DMD, DES, TTN

Compounds for genes affiliated with Centronuclear Myopathy

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45Novoseek, 60Tocris Bioscience, 11DrugBank, 29IUPHAR, 24HMDB, 50PharmGKB
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Compounds related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin45 6011.4DES, DMD
2ptdins(3)p4510.4PLEK, CDKN3, MTM1
3sodium stibogluconate45 1111.4ACP1, CDKN3
4ryanodine45 29 6012.4DES, RYR1, TTN
5hematoxylin4510.3DMD, DES, NCAM1
6sodium orthovanadate45 6011.3CDKN3, ACP1, PTP4A2
7pip24510.3RYR1, TTN, PLEK
8phenylarsine oxide4510.3CDKN3, ACP1, PTP4A2
9phosphatidylinositol 3-phosphate4510.3MTM1, MTMR2, CDKN3, PLEK
10gold4510.3TTN, NCAM1, DES, DMD
11phosphoserine45 2411.3CDKN3, ACP1, PTP4A2
12isoproterenol45 1111.2CAV3, DMD, RYR1, ACP1
13inositol4510.2CDKN3, RYR1, PLEK, ACP1
14ganciclovir45 1111.2CDKN3, ACP1, PTP4A2
15n-ethylmaleimide45 1111.2CDKN3, RYR1, ACP1
16gaba4510.2ACP1, RYR1, CDKN3, NCAM1
17suramin45 29 1112.1NCAM1, RYR1, ACP1
18vanadate4510.1PTP4A2, ACP1, CDKN3
19glycogen45 2411.1CAV3, DMD, DES, CDKN3, TTN
20nmda45 2911.1NCAM1, CDKN3, RYR1, ACP1, PTP4A2
21proline4510.1DMD, DES, DNM2, RYR1, TTN, PLEK
22phosphotyrosine4510.0MTM1, CDKN3, PLEK, ACP1, PTP4A2
23heparin45 29 11 2413.0DMD, DES, NCAM1, RYR1, ACP1
24norepinephrine45 11 2412.0ACP1, PLEK, RYR1, DES
25p-nitrophenyl phosphate4510.0ACP1, CDKN3
26biotin45 11 2412.0DMD, DES, CDKN3
27phosphoinositide4510.0MTM1, MTMR2, DNM2, CDKN3, PLEK, ACP1
28creatinine459.9CAV3, DMD, DES, NCAM1, MYF6, RYR1
29potassium45 11 2411.9TTN, RYR1, NCAM1, DMD
30nitric oxide45 11 2411.9CAV3, DMD, DES, NCAM1, DNM2, RYR1
31rapamycin459.9ACP1, PLEK, RYR1, CDKN3
32glutamate459.9NCAM1, CDKN3, RYR1, TTN, PLEK, ACP1
33adenylate459.9DMD, DES, CDKN3, PLEK, ACP1
34alanine459.9DMD, NCAM1, CDKN3, RYR1, PLEK, ACP1
35lipid459.8CAV3, DMD, MTM1, NCAM1, DNM2, RYR1
36threonine459.8DES, NCAM1, CDKN3, TTN, PLEK, ACP1
37acetylcholine45 50 29 11 2413.7ACP1, DMD, DES, NCAM1, MYF6, CDKN3
38phosphatidylinositol459.7CAV3, MTM1, MTMR2, NCAM1, DNM2, CDKN3
39serine459.6DMD, DES, NCAM1, CDKN3, RYR1, TTN
40doxorubicin45 50 1111.6DES, NCAM1, RYR1, ACP1
41cysteine459.5DMD, DES, NCAM1, CDKN3, RYR1, TTN
42calcium45 50 11 2412.5CAV3, DMD, DES, NCAM1, CDKN3, RYR1
43tyrosine459.4DMD, MTM1, MTMR2, DES, NCAM1, DNM2

GO Terms for genes affiliated with Centronuclear Myopathy

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16Gene Ontology
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Cellular components related to Centronuclear Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:01601010.2DMD, CAV3
2I bandGO:03167410.2TTN, RYR1, MTM1
3sarcolemmaGO:0423839.9CAV3, DMD, DES
4vacuolar membraneGO:0057749.9SBF2, MTMR2
5Z discGO:0300189.9TTN, DES, DMD, CAV3

Biological processes related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1nucleus localizationGO:05164710.3CAV3, DMD
2regulation of skeletal muscle contractionGO:01481910.3CAV3, DMD
3muscle cell cellular homeostasisGO:04671610.2MTM1, DMD, CAV3
4phosphatidylinositol biosynthetic processGO:00666110.2MTM1, MTMR2, MTMR14
5muscle filament slidingGO:03004910.2TTN, DES, DMD
6endocytosisGO:00689710.1BIN1, DNM2, CAV3
7muscle contractionGO:00693610.1TTN, RYR1, DES
8protein dephosphorylationGO:00647010.0MTM1, MTMR2, SBF1
9phosphatidylinositol dephosphorylationGO:0468569.9MTMR2, MTM1

Molecular functions related to Centronuclear Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase bindingGO:05099810.2DMD, CAV3
2protein tyrosine phosphatase activityGO:00472510.0CDKN3, MTMR14, MTMR2, MTM1
3phosphatidylinositol-3-phosphatase activityGO:0044389.9MTMR14, MTM1
4protein tyrosine/serine/threonine phosphatase activityGO:0081389.9MTMR2, CDKN3, SBF1
5protein bindingGO:0055158.4DNM2, DES, MTMR2, MTM1, DMD, CAV3

Products for genes affiliated with Centronuclear Myopathy

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Sources for Centronuclear Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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