CNM
MCID: CNT004
MIFTS: 59

Centronuclear Myopathy (CNM)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Centronuclear Myopathy

MalaCards integrated aliases for Centronuclear Myopathy:

Name: Centronuclear Myopathy 12 74 52 25 58 36 29 54 6 15 71
Myopathy, Centronuclear 74 25 29 6 39
Myotubular Myopathy 12 74
Cnm 25 58
Congenital Structural Myopathy 71
Myopathy, Myotubular 74

Characteristics:

Orphanet epidemiological data:

58
centronuclear myopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:14717
KEGG 36 H00700
MeSH 43 D020914
SNOMED-CT 67 82077006
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C0175709
Orphanet 58 ORPHA595
UMLS 71 C0175709 C0752282

Summaries for Centronuclear Myopathy

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. People with centronuclear myopathy begin experiencing muscle weakness at any time from birth to early adulthood. The muscle weakness slowly worsens over time and can lead to delayed development of motor skills, such as crawling or walking; muscle pain during exercise; and difficulty walking. Some affected individuals may need wheelchair assistance as the muscles atrophy and weakness becomes more severe. In rare instances, the muscle weakness improves over time. Some people with centronuclear myopathy experience mild to severe breathing problems related to the weakness of muscles needed for breathing. People with centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other facial muscles, including the muscles that control eye movement. People with this condition may also have foot abnormalities, a high arch in the roof of the mouth (high-arched palate), and abnormal side-to-side curvature of the spine (scoliosis). Rarely, individuals with centronuclear myopathy have a weakened heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability. A key feature of centronuclear myopathy is the displacement of the nucleus in muscle cells, which can be viewed under a microscope. Normally the nucleus is found at the edges of the rod-shaped muscle cells, but in people with centronuclear myopathy the nucleus is located in the center of these cells. How the change in location of the nucleus affects muscle cell function is unknown.

MalaCards based summary : Centronuclear Myopathy, also known as myopathy, centronuclear, is related to myopathy, centronuclear, 1 and myopathy, centronuclear, 2, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Centronuclear Myopathy is MTM1 (Myotubularin 1), and among its related pathways/superpathways are Inositol phosphate metabolism and Phosphatidylinositol signaling system. The drugs Acetylcysteine and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and eye, and related phenotypes are muscular hypotonia and gait disturbance

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.

NIH Rare Diseases : 52 Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype. For more information, click on the link of interest above. 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.

KEGG : 36 Centronuclear myopathy (CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. CNM exists in the genetic bases of the three main forms: the X-linked recessive form or myotubular myopathy (XLMTM) with severe neonatal phenotype, caused by mutations in the MTM1 gene; the classical autosomal dominant (AD) forms with mild, moderate or severe phenotypes caused by mutations in the DNM2 gene; and an autosomal recessive (AR) form presenting severe and moderate phenotypes caused by mutations in the BIN1 gene. Recently, heterozygous MYF6 mutation is reported to be associated with CNM.

Wikipedia : 74 Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally... more...

Related Diseases for Centronuclear Myopathy

Diseases in the Centronuclear Myopathy family:

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

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

(show top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, 1 34.6 RYR1 MYF6 MTMR14 MTM1 DNM2 BIN1
2 myopathy, centronuclear, 2 34.5 TTN SPEG RYR1 MYF6 MTM1 BIN1
3 myopathy, centronuclear, 5 34.3 SPEG MYF6
4 myopathy, centronuclear, 4 34.2 SPEG MYF6 MTM1
5 myopathy, centronuclear, 6, with fiber-type disproportion 34.1 MYF6 MTM1
6 myopathy, centronuclear, x-linked 33.7 TTN SPEG SBF2 SBF1 RYR1 MTMR2
7 myopathy, congenital 33.5 TTN RYR1 MTM1 HACD1 DNM2 DMD
8 myopathy 31.7 TTN SPEG SBF1 RYR1 MYF6 MTMR2
9 ptosis 31.6 TTN SPEG RYR1 MTMR14 MTM1 DNM2
10 peliosis hepatis 31.5 MTM1 DNM2
11 atrial standstill 1 31.4 TTN DMD CAV3
12 tooth disease 31.3 SBF2 SBF1 MTMR2 DNM2
13 central core myopathy 31.2 RYR1 MTM1 DNM2
14 malignant hyperthermia 31.1 RYR1 MTM1 DMD CAV3
15 miyoshi muscular dystrophy 31.1 TTN DMD CAV3
16 limb-girdle muscular dystrophy 31.0 TTN DMD CAV3
17 charcot-marie-tooth disease, axonal, type 2b 30.9 SBF2 MTMR2 DNM2
18 peripheral nervous system disease 30.9 SBF2 RYR1 MTMR2 MTM1 DNM2 DMD
19 neuromuscular disease 30.9 TTN SBF2 SBF1 RYR1 MTMR2 MTM1
20 congenital fiber-type disproportion 30.8 TTN RYR1 MYF6 MTM1 HACD1 DNM2
21 sensory peripheral neuropathy 30.8 SBF2 MTMR2 MTM1
22 congenital myasthenic syndrome 30.8 TTN RYR1 MTM1 DNM2 CAV3
23 muscular disease 30.7 TTN RYR1 MYF6 MTM1 DMD CAV3
24 charcot-marie-tooth disease 30.7 SBF2 SBF1 PLEK MTMR2 MTMR14 MTM1
25 myotubular myopathy with abnormal genital development 12.6
26 minicore myopathy with external ophthalmoplegia 11.7
27 lethal congenital contracture syndrome 5 11.4
28 hypotonia 10.8
29 cardioneuromyopathy with hyaline masses and nemaline rods 10.6 TTN DMD
30 reducing body myopathy 10.6 TTN DMD
31 neuropathy, hereditary sensory, type id 10.6 DNM3 DNM2
32 muscular dystrophy, limb-girdle, autosomal recessive 7 10.6 TTN DMD
33 congenital structural myopathy 10.6 TTN RYR1 MTM1
34 autosomal recessive limb-girdle muscular dystrophy 10.6 TTN DMD CAV3
35 autosomal recessive limb-girdle muscular dystrophy type 2a 10.6 TTN DMD CAV3
36 autosomal recessive limb-girdle muscular dystrophy type 2d 10.6 TTN DMD CAV3
37 myopathy, myofibrillar, 3 10.5 TTN DMD CAV3
38 rigid spine muscular dystrophy 1 10.5 TTN RYR1 DMD
39 autosomal recessive limb-girdle muscular dystrophy type 2j 10.5 TTN CAV3
40 charcot-marie-tooth disease, dominant intermediate e 10.5 SBF2 MTMR2 DNM2
41 kearns-sayre syndrome 10.5
42 infective endocarditis 10.5
43 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.5 TTN DMD CAV3
44 charcot-marie-tooth disease, type 4a 10.5 SBF2 MTMR2 DNM2
45 isolated elevated serum creatine phosphokinase levels 10.5 TTN RYR1 DMD CAV3
46 autosomal recessive limb-girdle muscular dystrophy type 2c 10.5 DMD CAV3
47 bethlem myopathy 1 10.5 RYR1 DMD CAV3
48 myofibrillar myopathy 10.5 TTN DNM2 DMD CAV3
49 intrinsic cardiomyopathy 10.5 TTN DMD CAV3
50 autosomal recessive limb-girdle muscular dystrophy type 2f 10.5 DMD CAV3

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



Diseases related to Centronuclear Myopathy

Symptoms & Phenotypes for Centronuclear Myopathy

Human phenotypes related to Centronuclear Myopathy:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
3 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
4 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
5 progressive muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003323
6 centrally nucleated skeletal muscle fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003687
7 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
8 heart block 58 31 frequent (33%) Frequent (79-30%) HP:0012722
9 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
10 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
11 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
12 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
13 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
14 seizure 31 frequent (33%) HP:0001250
15 seizures 58 Frequent (79-30%)

UMLS symptoms related to Centronuclear Myopathy:


muscle weakness, myalgia, muscle cramp, muscle rigidity, muscle spasticity

GenomeRNAi Phenotypes related to Centronuclear Myopathy according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10 DNM3
2 Decreased viability GR00055-A-2 10 DNM3
3 Decreased viability GR00107-A-1 10 SPEG
4 Decreased viability GR00173-A 10 MTMR12 SPEG
5 Decreased viability GR00221-A-1 10 SRPK3
6 Decreased viability GR00221-A-2 10 TTN
7 Decreased viability GR00221-A-4 10 SRPK3 TTN
8 Decreased viability GR00249-S 10 RYR1
9 Decreased viability GR00342-S-1 10 CDKN3 TTN
10 Decreased viability GR00342-S-2 10 CDKN3
11 Decreased viability GR00342-S-3 10 TTN
12 Decreased viability GR00381-A-1 10 MYF6
13 Decreased viability GR00386-A-1 10 MTM1 MTMR12 MYF6
14 Decreased viability GR00402-S-2 10 CDKN3 DMD MTMR2 MYF6
15 Increased the percentage of infected cells GR00402-S-1 8.32 BIN1

MGI Mouse Phenotypes related to Centronuclear Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 BIN1 CDKN3 DMD DNM1 DNM3 MTM1
2 cardiovascular system MP:0005385 10 BIN1 CAV3 DMD DNM1 DNM2 MTM1
3 homeostasis/metabolism MP:0005376 10 BIN1 CAV3 DMD DNM1 DNM2 DNM3
4 muscle MP:0005369 9.73 BIN1 CAV3 DMD DNM2 HACD1 MTM1
5 normal MP:0002873 9.23 DMD DNM1 DNM2 DNM3 MTM1 MTMR2

Drugs & Therapeutics for Centronuclear Myopathy

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2 Respiratory System Agents Phase 1, Phase 2
3 Anti-Infective Agents Phase 1, Phase 2
4 Antidotes Phase 1, Phase 2
5 Antioxidants Phase 1, Phase 2
6 Antiviral Agents Phase 1, Phase 2
7 Expectorants Phase 1, Phase 2
8 N-monoacetylcystine Phase 1, Phase 2
9 Protective Agents Phase 1, Phase 2
10
Acetylcholine Approved, Investigational Early Phase 1 51-84-3 187
11 Cholinergic Agents Early Phase 1
12 Cholinesterase Inhibitors Early Phase 1
13 Pyridostigmine Bromide Early Phase 1 101-26-8
14 Anticonvulsants Early Phase 1
15 Neurotransmitter Agents Early Phase 1
16 Bromides Early Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
2 A Phase 1/2 Trial on the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of DYN101 in Patients ≥ 16 Years of Age With Centronuclear Myopathies Caused by Mutations in DNM2 or MTM1. Recruiting NCT04033159 Phase 1, Phase 2 DYN101
3 ASPIRO: A Phase 1/2, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients Active, not recruiting NCT03199469 Phase 1, Phase 2
4 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Unknown status NCT03351270
5 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
6 Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy Completed NCT01840657
7 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
8 The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Completed NCT02231697
9 INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger Completed NCT02704273
10 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Completed NCT02453152
11 Myotubular and Centronuclear Myopathy Patient Registry Recruiting NCT04064307
12 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
13 Evaluation of Respiratory and Skeletal Muscle Functions in Response to Acetylcholinesterase Inhibitors in Pompe Disease Terminated NCT02357225 Early Phase 1 Pyridostigmine Bromide

Search NIH Clinical Center for Centronuclear Myopathy

Genetic Tests for Centronuclear Myopathy

Genetic tests related to Centronuclear Myopathy:

# Genetic test Affiliating Genes
1 Centronuclear Myopathy 29
2 Myopathy, Centronuclear 29

Anatomical Context for Centronuclear Myopathy

MalaCards organs/tissues related to Centronuclear Myopathy:

40
Skeletal Muscle, Heart, Eye, Testes, Testis

Publications for Centronuclear Myopathy

Articles related to Centronuclear Myopathy:

(show top 50) (show all 438)
# Title Authors PMID Year
1
Dynamin 2 and human diseases. 61 54
20127478 2010
2
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 61 54
20227276 2010
3
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation. 54 61
19932620 2010
4
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset. 61 54
19932619 2010
5
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. 61 54
19623537 2009
6
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. 61 54
19084976 2009
7
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. 54 61
18313359 2008
8
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. 54 61
18394888 2008
9
[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male]. 54 61
18358876 2008
10
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. 54 61
17825552 2007
11
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 54 61
17932957 2007
12
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 54 61
17676042 2007
13
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 54 61
17636067 2007
14
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 54 61
17376685 2007
15
MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. 54 61
17134899 2007
16
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. 61 54
17008356 2006
17
[Mutations in dynamin 2 cause dominant centronuclear myopathy]. 54 61
16457739 2006
18
Mutations in dynamin 2 cause dominant centronuclear myopathy. 54 61
16227997 2005
19
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. 61 54
12884002 2003
20
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. 61 54
12522554 2003
21
Diagnosis of X-linked myotubular myopathy by detection of myotubularin. 54 61
11456308 2001
22
Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. 54 61
10417791 1999
23
Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins. 61 54
7608737 1995
24
Neonatal centronuclear myopathy with N-CAM decorated myotubes. 61 54
7969799 1994
25
Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. 61 54
2357647 1990
26
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow- twitch muscles in mice. 61
32499372 2020
27
Targeted Treatments for Inherited Neuromuscular Diseases of Childhood. 61
32294764 2020
28
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients. 61
32514412 2020
29
Scission, a critical step in autophagosome formation. 61
32544363 2020
30
A location, location, location mutation impairs DNM2-mediated release of nascent autophagosomes from recycling endosomes. 61
32453967 2020
31
The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy. 61
32354746 2020
32
A DNM2 Centronuclear Myopathy Mutation Reveals a Link between Recycling Endosome Scission and Autophagy. 61
32315611 2020
33
Novel SPEG variant cause centronuclear myopathy in China. 61
31625632 2020
34
Centronuclear Myopathy with Abundant Nemaline Rods in a Japanese Black and Hereford Crossbred Calf. 61
31955807 2020
35
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy. 61
31628461 2019
36
Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish. 61
31691805 2019
37
Paraspinal amyotrophy in DNM-2-related centronuclear myopathy. 61
31655408 2019
38
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. 61
31044239 2019
39
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. 61
31378432 2019
40
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
41
Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin. 61
31017801 2019
42
EDTP/MTMR14: A novel target for improved survivorship to prolonged anoxia and cellular protein aggregates. 61
31029679 2019
43
Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes. 61
30925452 2019
44
Centronuclear myopathy with cardiomyopathy due to recessive titinopathy. 61
30681174 2019
45
Therapeutic Aspects in Congenital Myopathies. 61
31060727 2019
46
Neuromuscular transmission defects in myopathies: Rare but worth searching for. 61
30536954 2019
47
Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle. 61
30601711 2019
48
Downregulation of EDTP in glial cells suppresses polyglutamine protein aggregates and extends lifespan in Drosophila melanogaster. 61
30528881 2019
49
Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model. 61
30733559 2019
50
The Dog Model in the Spotlight: Legacy of a Trustful Cooperation. 61
31450509 2019

Variations for Centronuclear Myopathy

ClinVar genetic disease variations for Centronuclear Myopathy:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNM2 NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln)SNV Pathogenic 7279 rs121909089 19:10904509-10904509 19:10793833-10793833
2 DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)SNV Pathogenic 7280 rs121909090 19:10904508-10904508 19:10793832-10793832
3 DNM2 NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp)SNV Pathogenic 7281 rs121909091 19:10909219-10909219 19:10798543-10798543
4 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)SNV Pathogenic 7282 rs121909092 19:10904505-10904505 19:10793829-10793829
5 MTM1 NM_000252.2(MTM1):c.1089dup (p.Val364fs)duplication Pathogenic 211525 rs587783752 X:149826326-149826327 X:150657853-150657854
6 DNM2 NM_001005360.2(DNM2):c.1862T>C (p.Leu621Pro)SNV Pathogenic 158519 rs587783597 19:10934544-10934544 19:10823868-10823868
7 DNM2 NM_001005360.2(DNM2):c.1565G>A (p.Arg522His)SNV Pathogenic 158514 rs587783595 19:10922947-10922947 19:10812271-10812271
8 DNM2 NM_001005360.2(DNM2):c.1880C>G (p.Pro627Arg)SNV Pathogenic/Likely pathogenic 158520 rs587783598 19:10934562-10934562 19:10823886-10823886
9 DNM2 NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)SNV Pathogenic/Likely pathogenic 7285 rs121909095 19:10934538-10934538 19:10823862-10823862
10 TTN NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer)indel Pathogenic/Likely pathogenic 202465 rs794729338 2:179438873-179438879 2:178574146-178574152
11 DNM2 NM_001005360.2(DNM2):c.1124T>A (p.Val375Glu)SNV Likely pathogenic 158513 rs587783594 19:10904527-10904527 19:10793851-10793851
12 DNM2 NM_001005360.2(DNM2):c.822G>A (p.Thr274=)SNV Conflicting interpretations of pathogenicity 158528 rs201763720 19:10893769-10893769 19:10783093-10783093
13 DNM2 NM_001005360.2(DNM2):c.235+12C>ASNV Conflicting interpretations of pathogenicity 158524 rs147026993 19:10870499-10870499 19:10759823-10759823
14 DNM2 NM_001005360.2(DNM2):c.1827C>T (p.Ser609=)SNV Conflicting interpretations of pathogenicity 158518 rs371412466 19:10934509-10934509 19:10823833-10823833
15 TTN NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs)insertion Conflicting interpretations of pathogenicity 452205 rs1553742630 2:179498627-179498628 2:178633900-178633901
16 MTM1 NM_000252.2(MTM1):c.1053+5G>ASNV Uncertain significance 492808 rs1557414132 X:149818379-149818379 X:150649906-150649906
17 DNM2 NM_001005360.2(DNM2):c.2106G>C (p.Ser702=)SNV Uncertain significance 158522 rs554971107 19:10939759-10939759 19:10829083-10829083
18 RYR1 NM_000540.2(RYR1):c.3877C>A (p.Pro1293Thr)SNV not provided 440962 rs146407179 19:38964128-38964128 19:38473488-38473488

Copy number variations for Centronuclear Myopathy from CNVD:

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

Expression for Centronuclear Myopathy

Search GEO for disease gene expression data for Centronuclear Myopathy.

Pathways for Centronuclear Myopathy

Pathways related to Centronuclear Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Inositol phosphate metabolism hsa00562
2 Phosphatidylinositol signaling system hsa04070
3 Endocytosis hsa04144
4 Synaptic vesicle cycle hsa04721
5 Endocrine and other factor-regulated calcium reabsorption hsa04961

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 DNM3 DNM2 DNM1 BIN1
2 11.75 DNM3 DNM2 DNM1 CAV3 BIN1
3
Show member pathways
11.72 DNM3 DNM2 DNM1
4
Show member pathways
11.68 DNM3 DNM2 DNM1
5 11.56 DNM3 DNM2 DNM1
6
Show member pathways
11.39 DNM3 DNM2 DNM1
7 11.06 DNM3 DNM2 DNM1
8 10.79 DNM3 DNM2 DNM1 CAV3

GO Terms for Centronuclear Myopathy

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.34 TTN SBF2 SBF1 PLEK MTMR2 MTMR14
2 cytoplasm GO:0005737 10.3 TTN SRPK3 SBF2 SBF1 RYR1 PLEK
3 perinuclear region of cytoplasm GO:0048471 9.86 SBF2 SBF1 MTMR2 MTMR14 DNM3 DNM2
4 postsynaptic membrane GO:0045211 9.83 DNM3 DNM2 DNM1 DMD
5 postsynaptic density GO:0014069 9.83 MTMR2 DNM3 DNM2 DNM1 DMD
6 dendritic spine GO:0043197 9.78 MTMR2 DNM3 DNM2 DNM1
7 Z disc GO:0030018 9.72 TTN RYR1 DMD CAV3 BIN1
8 sarcolemma GO:0042383 9.71 RYR1 DMD CAV3
9 axon GO:0030424 9.7 SBF2 MTMR2 DNM3 DNM2 DNM1 DMD
10 sarcomere GO:0030017 9.69 TTN MTMR12 MTM1
11 photoreceptor inner segment GO:0001917 9.67 DNM3 DNM2 DNM1
12 T-tubule GO:0030315 9.63 RYR1 CAV3 BIN1
13 dendritic spine head GO:0044327 9.58 DNM3 DNM2 DNM1
14 dystrophin-associated glycoprotein complex GO:0016010 9.55 DMD CAV3
15 postsynaptic endocytic zone membrane GO:0098844 9.13 DNM3 DNM2 DNM1
16 I band GO:0031674 8.92 TTN RYR1 MTM1 BIN1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.11 SRPK3 SPEG MYF6 DMD CAV3 BIN1
2 protein dephosphorylation GO:0006470 9.91 SBF1 MTMR2 MTM1 CDKN3
3 endocytosis GO:0006897 9.91 DNM3 DNM2 DNM1 CAV3 BIN1
4 dephosphorylation GO:0016311 9.9 MTMR2 MTMR14 MTM1 CDKN3
5 peptidyl-tyrosine dephosphorylation GO:0035335 9.83 MTMR2 MTMR14 MTM1 CDKN3
6 muscle contraction GO:0006936 9.81 TTN RYR1 CAV3
7 skeletal muscle tissue development GO:0007519 9.78 SRPK3 MYF6 DMD
8 synaptic vesicle endocytosis GO:0048488 9.77 DNM3 DNM2 DNM1
9 receptor internalization GO:0031623 9.76 DNM3 DNM2 DNM1
10 membrane fusion GO:0061025 9.75 DNM3 DNM2 DNM1
11 phosphatidylinositol dephosphorylation GO:0046856 9.71 MTMR2 MTMR12 MTM1
12 muscle cell cellular homeostasis GO:0046716 9.67 MTM1 DMD CAV3
13 mitochondrial fission GO:0000266 9.65 DNM3 DNM2 DNM1
14 G protein-coupled receptor internalization GO:0002031 9.63 DNM2 DNM1
15 muscle cell differentiation GO:0042692 9.63 SPEG DMD BIN1
16 negative regulation of potassium ion transmembrane transport GO:1901380 9.62 CAV3 BIN1
17 T-tubule organization GO:0033292 9.62 CAV3 BIN1
18 regulation of synapse structure or activity GO:0050803 9.61 DNM3 DNM2 DNM1
19 postsynaptic neurotransmitter receptor internalization GO:0098884 9.58 DNM3 DNM2 DNM1
20 detection of muscle stretch GO:0035995 9.57 TTN CAV3
21 regulation of skeletal muscle contraction GO:0014819 9.56 DMD CAV3
22 positive regulation of synaptic vesicle recycling GO:1903423 9.55 DNM3 DNM1
23 nucleus localization GO:0051647 9.54 DMD CAV3 BIN1
24 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.5 DNM3 DNM2 DNM1
25 organelle fission GO:0048285 9.43 DNM3 DNM2 DNM1
26 muscle organ development GO:0007517 9.35 SRPK3 SPEG MYF6 DMD CAV3
27 synaptic vesicle budding from presynaptic endocytic zone membrane GO:0016185 9.33 DNM3 DNM2 DNM1
28 phosphatidylinositol biosynthetic process GO:0006661 9.02 SBF1 MTMR2 MTMR14 MTMR12 MTM1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.41 TTN SRPK3 SPEG SBF2 RYR1 PLEK
2 protease binding GO:0002020 9.63 TTN RYR1 BIN1
3 phosphatase activity GO:0016791 9.62 SBF1 MTMR2 MTM1 CDKN3
4 protein tyrosine phosphatase activity GO:0004725 9.56 MTMR2 MTMR14 MTM1 CDKN3
5 protein tyrosine/serine/threonine phosphatase activity GO:0008138 9.54 SBF1 MTMR2 CDKN3
6 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.43 MTMR2 MTM1
7 D2 dopamine receptor binding GO:0031749 9.4 DNM2 DNM1
8 phosphatase regulator activity GO:0019208 9.33 SBF2 SBF1 MTMR12
9 phosphatidylinositol-3-phosphatase activity GO:0004438 9.26 MTMR2 MTMR14 MTMR12 MTM1
10 nitric-oxide synthase binding GO:0050998 9.02 DNM3 DNM2 DNM1 DMD CAV3

Sources for Centronuclear Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
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45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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