MCID: MYP123
MIFTS: 39

Myopathy, Centronuclear, 1

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

Aliases & Classifications for Myopathy, Centronuclear, 1

MalaCards integrated aliases for Myopathy, Centronuclear, 1:

Name: Myopathy, Centronuclear, 1 57 53 75 29 6
Myopathy, Centronuclear, Autosomal Dominant 57 73
Autosomal Dominant Centronuclear Myopathy 53 59
Myotubular Myopathy, Autosomal Dominant 57 53
Autosomal Dominant Myotubular Myopathy 75 73
Ad-Cnm 53 59
Cnm1 57 75
Centronuclear Myopathy, Autosomal, Modifier of 57
Centronuclear Myopathy Autosomal Dominant 75
Dnm2-Related Centronuclear Myopathy 53
Myopathy, Centronuclear, Type 1 40
Centronuclear Myopathy 1 57

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant centronuclear myopathy
Inheritance: Autosomal dominant; Age of onset: Adolescent,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
variable age of onset (range early childhood to adult)


HPO:

32
myopathy, centronuclear, 1:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 160150
Orphanet 59 ORPHA169189
UMLS via Orphanet 74 C1834558
ICD10 via Orphanet 34 G71.2
MedGen 42 C1834558
MeSH 44 D020914

Summaries for Myopathy, Centronuclear, 1

NIH Rare Diseases : 53 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.

MalaCards based summary : Myopathy, Centronuclear, 1, also known as myopathy, centronuclear, autosomal dominant, is related to centronuclear myopathy and myopathy, and has symptoms including facial paresis and ophthalmoparesis. An important gene associated with Myopathy, Centronuclear, 1 is DNM2 (Dynamin 2), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Fc gamma R-mediated phagocytosis. Affiliated tissues include eye and skeletal muscle, and related phenotypes are ptosis and external ophthalmoplegia

OMIM : 57 Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting (Bitoun et al., 2005). The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. (160150)

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Myopathy, Centronuclear, 1

Diseases in the Centronuclear Myopathy family:

Myopathy, Centronuclear, 1 Myopathy, Centronuclear, 2
Myopathy, Centronuclear, 3 Myopathy, Centronuclear, 4
Myopathy, Centronuclear, 5

Diseases related to Myopathy, Centronuclear, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 centronuclear myopathy 28.1 BIN1 DNM2 MTMR14 MYF6 RYR1
2 myopathy 26.4 BIN1 DNM2 MTMR14 MYF6 RYR1
3 myopathy, centronuclear, 5 10.9
4 myopathy, centronuclear, 6, with fiber-type disproportion 10.9
5 charcot-marie-tooth disease, dominant intermediate b 9.4 DNM2 RYR1
6 myopathy, congenital 9.3 DNM2 RYR1
7 ptosis 9.1 DNM2 RYR1

Graphical network of the top 20 diseases related to Myopathy, Centronuclear, 1:



Diseases related to Myopathy, Centronuclear, 1

Symptoms & Phenotypes for Myopathy, Centronuclear, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
ophthalmoparesis

Muscle Soft Tissue:
delayed motor development
muscle weakness, primarily proximal
distal muscle weakness may occur
muscle hypertrophy may occur
muscle biopsy shows centralized nuclei
more
Skeletal:
contractures

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Face:
facial muscle weakness

Neurologic Central Nervous System:
walking difficulties


Clinical features from OMIM:

160150

Human phenotypes related to Myopathy, Centronuclear, 1:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 external ophthalmoplegia 32 HP:0000544
3 motor delay 32 HP:0001270
4 areflexia 32 HP:0001284
5 flexion contracture 32 HP:0001371
6 easy fatigability 32 HP:0003388
7 centrally nucleated skeletal muscle fibers 32 HP:0003687
8 proximal muscle weakness 32 HP:0003701
9 skeletal muscle hypertrophy 32 occasional (7.5%) HP:0003712
10 sleepy facial expression 32 HP:0005335
11 facial palsy 32 HP:0010628

UMLS symptoms related to Myopathy, Centronuclear, 1:


facial paresis, ophthalmoparesis

MGI Mouse Phenotypes related to Myopathy, Centronuclear, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.46 BIN1 DNM2 MTMR14 RYR1
2 homeostasis/metabolism MP:0005376 9.35 DNM2 MTMR14 MYF6 RYR1 BIN1
3 muscle MP:0005369 9.02 BIN1 DNM2 MTMR14 MYF6 RYR1

Drugs & Therapeutics for Myopathy, Centronuclear, 1

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 1

Genetic Tests for Myopathy, Centronuclear, 1

Genetic tests related to Myopathy, Centronuclear, 1:

# Genetic test Affiliating Genes
1 Myopathy, Centronuclear, 1 29 DNM2 MTMR14

Anatomical Context for Myopathy, Centronuclear, 1

MalaCards organs/tissues related to Myopathy, Centronuclear, 1:

41
Eye, Skeletal Muscle

Publications for Myopathy, Centronuclear, 1

Articles related to Myopathy, Centronuclear, 1:

# Title Authors Year
1
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. ( 25260562 )
2014
2
Mutation spectrum in the large GTPase dynamin 2, and genotype- phenotype correlation in autosomal dominant centronuclear myopathy. ( 22396310 )
2012
3
Autosomal dominant centronuclear myopathy with unique clinical presentations. ( 18162732 )
2007
4
Autosomal dominant centronuclear myopathy: report of a new family with clinical features simulating facioscapulohumeral syndrome. ( 9270681 )
1997

Variations for Myopathy, Centronuclear, 1

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear, 1:

75 (show all 19)
# 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 rs879254086
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, 1:

6
# 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.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh38 Chromosome 19, 10793833: 10793833
3 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
4 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh38 Chromosome 19, 10793832: 10793832
5 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
6 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh38 Chromosome 19, 10798543: 10798543
7 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
8 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh38 Chromosome 19, 10793829: 10793829

Expression for Myopathy, Centronuclear, 1

Search GEO for disease gene expression data for Myopathy, Centronuclear, 1.

Pathways for Myopathy, Centronuclear, 1

Pathways related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.26 MTMR14 RYR1
2 10.91 BIN1 DNM2
3 10.27 BIN1 DNM2

GO Terms for Myopathy, Centronuclear, 1

Cellular components related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.16 BIN1 RYR1
2 T-tubule GO:0030315 8.96 BIN1 RYR1
3 I band GO:0031674 8.62 BIN1 RYR1

Biological processes related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 8.96 BIN1 DNM2
2 membrane organization GO:0061024 8.62 BIN1 DNM2

Molecular functions related to Myopathy, Centronuclear, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 BIN1 RYR1

Sources for Myopathy, Centronuclear, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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