CNM1
MCID: MYP101
MIFTS: 54

Myopathy, Centronuclear (CNM1) malady

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

Aliases & Classifications for Myopathy, Centronuclear

Aliases & Descriptions for Myopathy, Centronuclear:

Name: Myopathy, Centronuclear 54 25 13
Centronuclear Myopathy 12 50 25 29 52 14 69
Autosomal Dominant Centronuclear Myopathy 50 56
Myotubular Myopathy, Autosomal Dominant 50 24
Autosomal Dominant Myotubular Myopathy 66 69
Myopathy, Centronuclear, 1 50 66
Centronuclear Myopathy 1 24 29
Myotubular Myopathy 12 29
Ad-Cnm 50 56
Cnm1 24 66
Centronuclear Myopathy, Autosomal, Modifier of 54
Myopathy, Centronuclear, Autosomal Dominant 69
Centronuclear Myopathy, Autosomal Dominant 24
Centronuclear Myopathy Autosomal Dominant 66
Dnm2-Related Centronuclear Myopathy 50
Myopathies, Structural, Congenital 42
Congenital Structural Myopathy 69
Cnm 25

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant centronuclear myopathy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy;

HPO:

32
myopathy, centronuclear:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 160150
Disease Ontology 12 DOID:14717
MeSH 42 D020914
NCIt 47 C84648
SNOMED-CT 64 193223007 82077006
Orphanet 56 ORPHA169189
ICD10 via Orphanet 34 G71.2
MedGen 40 C1834558
UMLS 69 C0175709

Summaries for Myopathy, Centronuclear

OMIM : 54 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 seizures, ptosis and muscular hypotonia. An important gene associated with Myopathy, Centronuclear is DNM2 (Dynamin 2), and among its related pathways/superpathways are Fc gamma R-mediated phagocytosis and PI Metabolism. The drugs tyrosine and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and heart, and related phenotypes are behavior/neurological and cardiovascular system

NIH Rare Diseases : 50 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 : 66 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.

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.

Disease Ontology : 12 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.

Wikipedia : 71 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Related Diseases for Myopathy, Centronuclear

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 34)
id Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, autosomal recessive 12.3
2 myopathy, centronuclear, 3 12.2
3 myopathy, centronuclear, 4 12.2
4 centronuclear myopathy 5 11.7
5 myotubular myopathy, x-linked 11.6
6 myopathy 10.4
7 child syndrome 10.3 DNM2 MTM1
8 dravet syndrome 10.3 BIN1 SPEG TTN
9 autoimmune hepatitis 10.2 MTM1 MTMR14 TTN
10 carboxypeptidase n deficiency 10.2 DNM2 PLEK
11 facio digito genital syndrome recessive form 10.2 DES DMD
12 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.2 DES DMD
13 charcot-marie-tooth disease, dominant intermediate c 10.2 DNM2 PLEK
14 yunis-varon syndrome 10.2 MTMR2 SBF2
15 nonsyndromic hearing loss and deafness, mitochondrial 10.2 DES DMD TTN
16 congenital myopathy 10.2 DMD TTN
17 cerebral angioma 10.2 DMD DNM2 MTM1 RYR1
18 lethal congenital contracture syndrome 5 10.2 DNM2 MTM1 PLEK RYR1
19 lyme disease 10.1 DES DMD TTN
20 short stature, idiopathic familial 10.1 MTM1 MTMR2 SBF1 SBF2
21 gnathodiaphyseal dysplasia 10.1 MTM1 MTMR2 SBF1 SBF2
22 hereditary xanthinuria 10.1 MTM1 MTMR2 SBF1 SBF2
23 breast rhabdomyosarcoma 10.1 DES MYF6
24 charcot-marie-tooth disease, type 2j 10.1 MTM1 MTMR2 SBF1 SBF2
25 wernicke-korsakoff syndrome 10.1 DNM2 MTMR2 SBF1 SBF2
26 primary cutaneous gamma/delta-positive t-cell lymphoma 10.1 DES DMD TTN
27 familial partial lipodystrophy 10.1 DES DMD RYR1 TTN
28 microcephaly and chorioretinopathy 2 10.1 DMD HACD1 RYR1
29 charcot-marie-tooth disease, axonal, type 2k 10.0 MTMR2 SBF2
30 phototoxic dermatitis 10.0 DES DMD MTM1 RYR1 TTN
31 chromophobe renal cell carcinoma 10.0 DNM2 MTM1 MTMR2 SBF1 SBF2
32 deafness, autosomal dominant 8/12 10.0 CDKN3 MTM1 MTMR2 SBF1 SBF2
33 spindle cell sarcoma 10.0 DES MTM1 MTMR14 MYF6 RYR1 TTN
34 adams-oliver syndrome 2 8.2 ACP1 AMPH BIN1 CDKN3 DES DMD

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



Diseases related to Myopathy, Centronuclear

Symptoms & Phenotypes for Myopathy, Centronuclear

Symptoms by clinical synopsis from OMIM:

160150

Clinical features from OMIM:

160150

Human phenotypes related to Myopathy, Centronuclear:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ptosis 32 HP:0000508
3 muscular hypotonia 32 HP:0001252
4 gait disturbance 32 HP:0001288
5 scoliosis 32 HP:0002650
6 facial palsy 32 HP:0010628
7 flexion contracture 32 HP:0001371
8 emg abnormality 32 HP:0003457
9 skeletal muscle atrophy 32 HP:0003202
10 reduced tendon reflexes 32 HP:0001315
11 mask-like facies 32 HP:0000298
12 heart block 32 HP:0012722
13 respiratory failure 32 HP:0002878
14 areflexia 32 HP:0001284
15 skeletal muscle hypertrophy 32 HP:0003712
16 motor delay 32 HP:0001270
17 external ophthalmoplegia 32 HP:0000544
18 proximal muscle weakness 32 HP:0003701
19 progressive muscle weakness 32 HP:0003323
20 sleepy facial expression 32 HP:0005335
21 easy fatigability 32 HP:0003388
22 centrally nucleated skeletal muscle fibers 32 HP:0003687

UMLS symptoms related to Myopathy, Centronuclear:


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

MGI Mouse Phenotypes related to Myopathy, Centronuclear:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 AMPH BIN1 DES DMD MTM1 MTMR14
2 cardiovascular system MP:0005385 10.07 ACP1 BIN1 DES DMD DNM2 MTM1
3 homeostasis/metabolism MP:0005376 10.03 ACP1 BIN1 DES DMD DNM2 MTM1
4 cellular MP:0005384 10.02 DNM2 MTM1 PTP4A2 RYR1 SBF1 TTN
5 mortality/aging MP:0010768 9.93 MYF6 RYR1 SBF1 SPEG TTN AMPH
6 muscle MP:0005369 9.7 ACP1 BIN1 DES DMD DNM2 MTM1
7 reproductive system MP:0005389 9.23 BIN1 DMD MTM1 MTMR2 PTP4A2 SBF1

Drugs & Therapeutics for Myopathy, Centronuclear

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

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 tyrosine Nutraceutical Phase 2
2
Adenosine Approved, Investigational 58-61-7 60961
3
Menthol Approved 2216-51-5 16666
4 Analgesics
5 Neurotransmitter Agents
6 Peripheral Nervous System Agents
7 Vasodilator Agents
8 Anti-Arrhythmia Agents

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Treatment of TNNT1-Myopathy With L-Tyrosine. Unknown status NCT02035501 Phase 2
2 Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions Unknown status NCT01306994
3 Myotubular Myopathy Event Study Completed NCT01840657
4 Myotubular Myopathy Genetic Testing Study Recruiting NCT01817946
5 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Recruiting NCT02057705
6 A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02231697
7 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
8 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
9 Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases Recruiting NCT03018184
10 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Active, not recruiting NCT02453152
11 A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects Active, not recruiting NCT02704273
12 Cohort Description of Younger With AV-block Not yet recruiting NCT03024047
13 LAMA2-related Muscular Dystrophy Brain Study Withdrawn NCT01952028

Search NIH Clinical Center for Myopathy, Centronuclear

Cochrane evidence based reviews: myopathies, structural, congenital

Genetic Tests for Myopathy, Centronuclear

Genetic tests related to Myopathy, Centronuclear:

id Genetic test Affiliating Genes
1 Myotubular Myopathy 29
2 Myopathy, Centronuclear, 1 29
3 Myopathy, Centronuclear 29
4 Centronuclear Myopathy 1 24 DNM2

Anatomical Context for Myopathy, Centronuclear

MalaCards organs/tissues related to Myopathy, Centronuclear:

39
Skeletal Muscle, Eye, Heart

Publications for Myopathy, Centronuclear

Articles related to Myopathy, Centronuclear:

id Title Authors Year
1
Pathological cases of the month. Myotubular myopathy (centronuclear myopathy). ( 8352228 )
1993

Variations for Myopathy, Centronuclear

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

66 (show all 19)
id Symbol AA change Variation ID SNP ID
1 DNM2 p.Glu368Lys VAR_031962 rs121909092
2 DNM2 p.Arg369Gln VAR_031963 rs121909089
3 DNM2 p.Arg369Trp VAR_031964 rs121909090
4 DNM2 p.Arg465Trp VAR_031965 rs121909091
5 DNM2 p.Ala618Thr VAR_039041
6 DNM2 p.Ser619Leu VAR_039042 rs121909095
7 DNM2 p.Ser619Trp VAR_039043 rs121909095
8 DNM2 p.Glu650Lys VAR_062576
9 DNM2 p.Glu368Gln VAR_068365
10 DNM2 p.Arg522Cys VAR_068366
11 DNM2 p.Arg522His VAR_068367 rs587783595
12 DNM2 p.Arg523Gly VAR_068368 rs587783596
13 DNM2 p.Glu560Lys VAR_068369
14 DNM2 p.Ala618Asp VAR_068370
15 DNM2 p.Leu621Pro VAR_068371 rs587783597
16 DNM2 p.Pro627His VAR_068372
17 DNM2 p.Pro627Arg VAR_068373 rs587783598
18 MTMR14 p.Arg336Gln VAR_033370 rs121434509
19 MTMR14 p.Tyr462Cys VAR_033371 rs121434510

ClinVar genetic disease variations for Myopathy, Centronuclear:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh37 Chromosome 19, 10904509: 10904509
2 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
3 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
4 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
5 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
6 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh37 Chromosome 19, 10922947: 10922947
7 DNM2 NM_001005360.2(DNM2): c.1862T> C (p.Leu621Pro) single nucleotide variant Pathogenic rs587783597 GRCh37 Chromosome 19, 10934544: 10934544
8 DNM2 NM_001005360.2(DNM2): c.1880C> G (p.Pro627Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587783598 GRCh37 Chromosome 19, 10934562: 10934562

Copy number variations for Myopathy, Centronuclear from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 41408 10 17671963 17699379 Insertion PTPLA Centronuclear myopathy

Expression for Myopathy, Centronuclear

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

Pathways for Myopathy, Centronuclear

GO Terms for Myopathy, Centronuclear

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

id Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.83 AMPH BIN1 CDKN3 DES DMD DNM2
2 Z disc GO:0030018 9.56 BIN1 DES DMD TTN
3 vacuolar membrane GO:0005774 9.32 MTMR2 SBF2
4 I band GO:0031674 8.92 BIN1 MTM1 RYR1 TTN
5 cytoplasm GO:0005737 10.06 ACP1 AMPH BIN1 CDKN3 DES DMD

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.8 AMPH BIN1 DNM2 SBF1 SBF2
2 dephosphorylation GO:0016311 9.73 CDKN3 MTM1 MTMR1 MTMR14 MTMR2 PTP4A2
3 muscle contraction GO:0006936 9.67 DES RYR1 TTN
4 muscle organ development GO:0007517 9.65 DMD MYF6 SPEG
5 muscle filament sliding GO:0030049 9.61 DES DMD TTN
6 phosphatidylinositol metabolic process GO:0046488 9.55 MTMR2 PLEK
7 phosphatidylinositol biosynthetic process GO:0006661 9.55 MTM1 MTMR1 MTMR14 MTMR2 SBF1
8 skeletal muscle tissue regeneration GO:0043403 9.54 DMD MYF6
9 phosphatidylinositol dephosphorylation GO:0046856 9.54 MTM1 MTMR1 MTMR2
10 muscle cell cellular homeostasis GO:0046716 9.52 DMD MTM1
11 intermediate filament organization GO:0045109 9.51 DES MTM1
12 muscle cell differentiation GO:0042692 9.5 BIN1 DMD SPEG
13 protein dephosphorylation GO:0006470 9.5 ACP1 CDKN3 MTM1 MTMR14 MTMR2 PTP4A2
14 nucleus localization GO:0051647 9.46 BIN1 DMD
15 peptidyl-tyrosine dephosphorylation GO:0035335 9.17 ACP1 CDKN3 MTM1 MTMR1 MTMR14 MTMR2

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

id Name GO ID Score Top Affiliating Genes
1 phosphoprotein phosphatase activity GO:0004721 9.63 ACP1 CDKN3 MTM1
2 phosphatidylinositol-3-phosphatase activity GO:0004438 9.56 MTM1 MTMR1 MTMR14 MTMR2
3 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.5 CDKN3 MTMR2 SBF1
4 phosphatase activity GO:0016791 9.5 ACP1 CDKN3 MTM1 MTMR1 MTMR14 MTMR2
5 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.46 MTM1 MTMR1 MTMR14 MTMR2
6 nitric-oxide synthase binding GO:0050998 9.43 DMD DNM2
7 phosphatase regulator activity GO:0019208 9.37 SBF1 SBF2
8 protein tyrosine phosphatase activity GO:0004725 9.17 ACP1 CDKN3 MTM1 MTMR1 MTMR14 MTMR2
9 hydrolase activity GO:0016787 10.01 ACP1 CDKN3 DNM2 MTM1 MTMR1 MTMR14

Sources for Myopathy, Centronuclear

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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