MCID: CNT004
MIFTS: 62

Centronuclear Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Centronuclear Myopathy

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 myopathy and centronuclear myopathy 1. An important gene associated with Centronuclear Myopathy is DNM2 (dynamin 2), and among its related pathways are Arf6 trafficking events and PI Metabolism. The compounds phosphatidylinositol 3-phosphate and alpha-bungarotoxin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related mouse phenotypes are skeleton and normal.

Wikipedia:66 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Description from OMIM:48 160150,614408,255200

Aliases & Classifications for Centronuclear Myopathy

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 10diseasecard, 48OMIM, 23GTR, 50Orphanet, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
autosomal dominant centronuclear myopathy:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

centronuclear myopathy 9 44 22 11 46 63
myotubular myopathy 9 44 22
autosomal recessive centronuclear myopathy 22 63
myopathy, centronuclear 10 48
myopathy, myotubular 44 23
myopathy, centronuclear, autosomal recessive 48
autosomal dominant centronuclear myopathy 50
autosomal dominant myotubular myopathy 22
myotubular myopathy 1 22
ad-cnm 50


External Ids:

Disease Ontology9 DOID:14717
MeSH36 D020914
SNOMED-CT59 193223007, 82077006
ICD10 via Orphanet27 G71.2

Related Diseases for Centronuclear Myopathy

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18GeneCards, 19GeneDecks
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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 61)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.4DNM2, DES, DMD, TTN, MTM1, MTMR2
2centronuclear myopathy 130.7DNM2, MTMR14
3nemaline myopathy30.3RYR1, DES
4neuropathy30.3DMD, MTMR2, MTM1, RYR1, SBF2, DNM2
5myotonic dystrophy30.3RYR1, DMD, MTM1
6charcot-marie-tooth disease30.2SBF2, DNM2, MTMR2, MTM1
7dilated cardiomyopathy30.2DES, RYR1, TTN, DMD
8x-linked centronuclear myopathy10.8
9centronuclear myopathy, autosomal, modifier of10.6
10centronuclear myopathy 410.5
11myotonia10.5
12peliosis hepatis10.4
13hepatitis10.4
14centronuclear myopathy 310.4
15congenital myotonic dystrophy10.3
16cataract10.3
17neutropenia10.3
18centronuclear myopathy 210.3
19casp10-related autoimmune lymphoproliferative syndrome10.3
20intrahepatic cholestasis10.2
21muscular atrophy10.2
22cholestasis10.2
23spinal muscular atrophy10.2
24tooth disease10.2
25congestive heart failure10.2
26multiple sclerosis10.2
27peripheral neuropathy10.2
28congenital fiber-type disproportion10.2
29vacuolar myopathy10.2
30mental retardation10.2
31rigid spine syndrome10.1DMD
32dystrophinopathies10.1DMD
33pyloric stenosis10.1NCAM1
34central core myopathy10.1RYR1, DES
35sensory peripheral neuropathy10.0MTM1, MTMR2
36emery-dreifuss muscular dystrophy10.0NCAM1, DMD
37charcot-marie-tooth neuropathy type 410.0MTMR2, SBF2
38becker muscular dystrophy10.0DMD, NCAM1
39embryonal rhabdomyosarcoma10.0DES, NCAM1
40limb-girdle muscular dystrophy, type 2g10.0TTN, DMD
41limb-girdle muscular dystrophy type 2f10.0DMD, TTN
42chordoma10.0NCAM1, DES
43limb-girdle muscular dystrophy, type 2b10.0TTN, DMD
44calpainopathy10.0TTN, DMD
45limb-girdle muscular dystrophy10.0DMD, TTN
46respiratory failure10.0RYR1, TTN
47thymoma10.0RYR1, TTN
48charcot-marie-tooth disease type 4b110.0MTMR2, MTM1, SBF2
49myasthenia gravis10.0TTN, RYR1, DMD
50distal muscular dystrophy10.0DES, TTN, DMD

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



Diseases related to centronuclear myopathy

Symptoms for Centronuclear Myopathy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

255200

Clinical features from OMIM:

160150,614408,255200

Drugs & Therapeutics for Centronuclear Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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23GTR
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Genetic tests related to Centronuclear Myopathy:

id Genetic test Affiliating Genes
1 Myotubular Myopathy23

Anatomical Context for Centronuclear Myopathy

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34MalaCards
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MalaCards organs/tissues related to Centronuclear Myopathy:

34
Skeletal muscle, Heart, Testes

Animal Models for Centronuclear Myopathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Centronuclear Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.1RYR1, MTM1, MYF6, TTN, DMD
2MP:00028738.0MTMR2, MTM1, MYF6, TTN, DMD, DNM2
3MP:00053898.0SBF1, DMD, MTM1, MTMR2, SBF2
4MP:00053857.8DMD, RYR1, MTMR14, MTM1, BIN1, TTN
5MP:00053847.5RYR1, NCAM1, BIN1, DNM2, MTM1, TTN
6MP:00053697.3DES, DMD, TTN, MYF6, MTM1, MTMR14
7MP:00053787.2MTM1, MTMR2, RYR1, NCAM1, DNM2, DMD
8MP:00053767.1BIN1, SBF1, MTMR14, MYF6, TTN, DMD
9MP:00107686.3TTN, DES, DMD, RYR1, NCAM1, BIN1
10MP:00053866.1RYR1, NCAM1, DES, DMD, TTN, MTM1

Publications for Centronuclear Myopathy

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53PubMed
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Articles related to Centronuclear Myopathy:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? (23975873)
2013
2
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. (23338057)
2013
3
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. (23754947)
2013
4
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. (23394783)
2013
5
Centronuclear myopathy in a Border collie dog. (23013377)
2012
6
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. (20927630)
2011
7
Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. (21221624)
2011
8
Expanding the clinical, pathological and MRI phenotype of DNM2- related centronuclear myopathy. (20227276)
2010
9
Surgery for foot deformity in patients with congenital myopathy (multicore disease, congenital fiber-type disproportion, and centronuclear myopathy). (19483656)
2009
10
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. (20476667)
2009
11
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. (19084976)
2009
12
Genetic testing for all forms of myotubular/centronuclear myopathy. (18402390)
2008
13
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. (17932957)
2007
14
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. (17676042)
2007
15
An atypical presentation of sporadic adult-onset centronuclear myopathy. (17290936)
2007
16
Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. (18154705)
2007
17
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. (16585051)
2006
18
Mutations in dynamin 2 cause dominant centronuclear myopathy]. (16457739)
2006
19
X-linked myotubular and centronuclear myopathies. (16042307)
2005
20
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. (12884002)
2003
21
Centronuclear myopathy and cardiomyopathy requiring heart transplant. (12536036)
2003
22
Centronuclear myopathy--morphological relation to developing human skeletal muscle: a clinicopathological evaluation. (10751809)
2000
23
Temporomandibular joint involvement in a patient with centronuclear myopathy. (10884647)
2000
24
Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset. (9686113)
1998
25
Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset. (9667782)
1998
26
Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome. (9270681)
1997
27
Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy? (7546014)
1995
28
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)
1994
29
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. (7931426)
1994
30
Neonatal centronuclear myopathy with N-CAM decorated myotubes. (7969799)
1994
31
Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies. (1517767)
1992
32
Muscular pseudohypertrophy in an adult case with centronuclear myopathy. (2044633)
1991
33
Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. (1822797)
1991
34
Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. (1824643)
1991
35
Muscle histochemistry in myotubular (centronuclear) myopathy. (2466417)
1989
36
Adult-onset centronuclear myopathy: evidence against a neurogenic pathology. (2816279)
1989
37
X-linked centronuclear myopathy as a cause of floppy baby. (3817270)
1987
38
Severe neonatal centronuclear myopathy with autosomal dominant inheritance. (2994607)
1985
39
Centronuclear myopathy. (3832049)
1985
40
Centronuclear myopathy, cataract, and electrical myotonia: a new case. (4079961)
1985
41
Perinatal diagnosis of myotubular (centronuclear) myopathy: a case report. (6851300)
1983
42
Centronuclear myopathy: follow-up study of a case reported as an early onset myopathy (1966): muscle biopsies in parents and sibs. (7468147)
1980
43
Centronuclear myopathy. (469562)
1979
44
Crural hypertrophy associated with centronuclear myopathy. (157387)
1979
45
Familial centronuclear myopathy: a haploid DNA disease? (463498)
1979
46
Centronuclear myopathy in the newborn period causing severe respiratory distress. (840536)
1977
47
Familial centronuclear myopathy associated with 'cardiomyopathy'. (131568)
1976
48
Centronuclear myopathy: a light and electron microscopic study and a review of the literature. (4741006)
1973
49
Centronuclear myopathy with autosomal dominant inheritance. (5016690)
1972
50
Centronuclear myopathy. (5711397)
1968

Variations for Centronuclear Myopathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Centronuclear Myopathy:

65 (show all 21)
id Symbol AA change Variation ID SNP ID
1BIN1p.Lys35AsnVAR_037425
2BIN1p.Asp151AsnVAR_037426
3DNM2p.Glu368LysVAR_031962
4DNM2p.Arg369GlnVAR_031963
5DNM2p.Arg369TrpVAR_031964
6DNM2p.Arg465TrpVAR_031965
7DNM2p.Ala618ThrVAR_039041
8DNM2p.Ser619LeuVAR_039042
9DNM2p.Ser619TrpVAR_039043
10DNM2p.Glu650LysVAR_062576
11DNM2p.Glu368GlnVAR_068365
12DNM2p.Arg522CysVAR_068366
13DNM2p.Arg522HisVAR_068367
14DNM2p.Arg523GlyVAR_068368
15DNM2p.Glu560LysVAR_068369
16DNM2p.Ala618AspVAR_068370
17DNM2p.Leu621ProVAR_068371
18DNM2p.Pro627HisVAR_068372
19DNM2p.Pro627ArgVAR_068373
20MTMR14p.Arg336GlnVAR_033370rs121434509
21MTMR14p.Tyr462CysVAR_033371rs121434510

Clinvar genetic disease variations for Centronuclear Myopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1DNM2NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln)single nucleotide variantPathogenicrs121909089GRCh37Chr 19, 10904509: 10904509
2DNM2NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp)single nucleotide variantPathogenicrs121909090GRCh37Chr 19, 10904508: 10904508
3DNM2NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp)single nucleotide variantPathogenicrs121909091GRCh37Chr 19, 10909219: 10909219
4DNM2NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys)single nucleotide variantPathogenicrs121909092GRCh37Chr 19, 10904505: 10904505
5BIN1NM_139343.2(BIN1): c.105G> T (p.Lys35Asn)single nucleotide variantPathogenicrs121909273GRCh37Chr 2, 127834262: 127834262
6BIN1NM_139343.2(BIN1): c.451G> A (p.Asp151Asn)single nucleotide variantPathogenicrs121909274GRCh37Chr 2, 127826568: 127826568
7BIN1NM_139343.2(BIN1): c.1723A> T (p.Lys575Ter)single nucleotide variantPathogenicrs121909275GRCh37Chr 2, 127806161: 127806161
8BIN1NM_139343.2(BIN1): c.461G> A (p.Arg154Gln)single nucleotide variantPathogenicrs267606681GRCh37Chr 2, 127826558: 127826558

Expression for genes affiliated with Centronuclear Myopathy

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2BioGPS, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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Compounds for genes affiliated with Centronuclear Myopathy

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46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 52PharmGKB, 12DrugBank
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Compounds related to Centronuclear Myopathy according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1phosphatidylinositol 3-phosphate469.9MTM1, MTMR2
2alpha-bungarotoxin46 30 6211.8DMD, DES
3Phosphate259.5DNM2, MTMR14, MTM1
4ryanodine46 30 6211.4RYR1, TTN, DES
5hematoxylin469.3DES, DMD, NCAM1
6bromodeoxyuridine469.2DES, DMD, NCAM1
7phosphatidylinositol469.0MTM1, MTMR2, DNM2, NCAM1
8polyacrylamide469.0TTN, DMD, DES
9doxorubicin46 52 1210.9DES, NCAM1, RYR1
10glycogen46 259.9TTN, DMD, DES
11heparin46 30 25 1211.9RYR1, NCAM1, DMD, DES
12potassium46 25 1210.8DMD, TTN, NCAM1, RYR1
13nitric oxide46 25 1210.7DES, DMD, DNM2, NCAM1, RYR1
14lipid468.7DMD, MTM1, DNM2, NCAM1, RYR1
15gold468.7NCAM1, TTN, DMD, DES
16proline468.6DES, DMD, TTN, DNM2, RYR1
17cysteine468.3RYR1, NCAM1, TTN, DMD, DES
18tyrosine468.2DES, DMD, MTM1, MTMR2, DNM2, NCAM1
19acetylcholine46 52 30 25 1212.1RYR1, NCAM1, MYF6, TTN, DMD, DES
20creatinine468.1DES, DMD, TTN, MYF6, NCAM1, RYR1
21serine468.0DES, DMD, TTN, NCAM1, RYR1

GO Terms for genes affiliated with Centronuclear Myopathy

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17Gene Ontology
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Cellular components related to Centronuclear Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1filopodiumGO:0301759.6MTM1, DMD
2I bandGO:0316749.3RYR1, MTM1, TTN
3vacuolar membraneGO:0057749.1MTMR2, SBF2
4cytosolGO:0058297.6DES, DMD, TTN, MTM1, MTMR14, MTMR2
5cytoplasmGO:0057377.4TTN, MTM1, MTMR2, DNM2, BIN1, NCAM1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol dephosphorylationGO:0468569.8MTM1, MTMR2
2phosphatidylinositol biosynthetic processGO:0066619.6MTM1, MTMR14, MTMR2
3muscle cell differentiationGO:0426929.6MYF6, BIN1
4phospholipid metabolic processGO:0066449.5MTM1, MTMR2, MTMR14
5protein dephosphorylationGO:0064709.5SBF1, MTM1, MTMR2
6cardiac muscle contractionGO:0600489.3TTN, DMD
7regulation of Rab GTPase activityGO:0323139.3SBF2, SBF1
8muscle contractionGO:0069369.3TTN, DES, RYR1
9protein tetramerizationGO:0512629.1MTMR2, SBF2
10muscle filament slidingGO:0300499.1TTN, DES, DMD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphatase activityGO:00443810.0MTMR14, MTM1
2protein tyrosine phosphatase activityGO:0047259.6MTMR2, MTMR14, MTM1
3protein tyrosine/serine/threonine phosphatase activityGO:0081389.4MTMR2, SBF1
4structural constituent of muscleGO:0083079.3TTN, DMD
5Rab guanyl-nucleotide exchange factor activityGO:0171129.2SBF1, SBF2
6identical protein bindingGO:0428028.6TTN, BIN1, NCAM1, DES
7protein bindingGO:0055156.5DES, DMD, TTN, MTM1, MTMR2, DNM2

Products for genes affiliated with Centronuclear Myopathy

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Sources for Centronuclear Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet