CNMX
MCID: MYP136
MIFTS: 59

Myopathy, Centronuclear, X-Linked (CNMX)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Myopathy, Centronuclear, X-Linked

MalaCards integrated aliases for Myopathy, Centronuclear, X-Linked:

Name: Myopathy, Centronuclear, X-Linked 56 73 39
X-Linked Myotubular Myopathy 12 24 52 25 58 73
Xlmtm 12 24 52 25 58 73
X-Linked Centronuclear Myopathy 24 52 25 58
Xlcnm 12 24 52 58
Cnmx 56 12 73
Mtm1 56 12 73
Centronuclear Myopathy X-Linked 12 15
Myotubular Myopathy, X-Linked 56 13
Myotubular Myopathy 1 56 12
Mtmx 56 25
Myotubular Myopathy, X-Linked; Mtmx; Xlmtm 56
Myotubular Myopathy 1; Mtm1 56
Myotubular Myopathy Type 1 73
Myotubular Myopathy 24
Xmtm 25
Mtm 24
Cnm 25

Characteristics:

Orphanet epidemiological data:

58
x-linked centronuclear myopathy
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (France),1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

56
Miscellaneous:
usually fatal in infancy
some carrier females may manifest mild symptoms

Inheritance:
x-linked recessive


HPO:

31
myopathy, centronuclear, x-linked:
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Penetrance is thought to be 100% in males with a pathogenic variant in mtm1, as all have shown findings of the disease. however, disease severity can range from mild to severe....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Myopathy, Centronuclear, X-Linked

Genetics Home Reference : 25 X-linked myotubular myopathy is a condition that primarily affects muscles used for movement (skeletal muscles) and occurs almost exclusively in males. People with this condition have muscle weakness (myopathy) and decreased muscle tone (hypotonia) that are usually evident at birth. The muscle problems in X-linked myotubular myopathy impair the development of motor skills such as sitting, standing, and walking. Affected infants may also have difficulties with feeding due to muscle weakness. Individuals with this condition often do not have the muscle strength to breathe on their own and must be supported with a machine to help them breathe (mechanical ventilation). Some affected individuals need breathing assistance only periodically, typically during sleep, while others require it continuously. People with X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia). In X-linked myotubular myopathy, muscle weakness often disrupts normal bone development and can lead to fragile bones, an abnormal curvature of the spine (scoliosis), and joint deformities (contractures) of the hips and knees. People with X-linked myotubular myopathy may have a large head with a narrow and elongated face and a high, arched roof of the mouth (palate). They may also have liver disease, recurrent ear and respiratory infections, or seizures. Because of their severe breathing problems, individuals with X-linked myotubular myopathy usually survive only into early childhood; however, some people with this condition have lived into adulthood. X-linked myotubular myopathy is a member of a group of disorders called centronuclear myopathy. In centronuclear myopathy, the nucleus is found at the center of many rod-shaped muscle cells instead of at either end, where it is normally located.

MalaCards based summary : Myopathy, Centronuclear, X-Linked, also known as x-linked myotubular myopathy, is related to ptosis and sensory peripheral neuropathy. An important gene associated with Myopathy, Centronuclear, X-Linked is MTM1 (Myotubularin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and liver, and related phenotypes are muscular hypotonia and scoliosis

Disease Ontology : 12 A centronuclear myopathy that has material basis in X-linked inheritance of mutations in MTM1 on Xq28.

NIH Rare Diseases : 52 X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy , which is a group of rare, inherited conditions that affect the muscles. XLMTM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia ) that can range from mild to severe. The muscle problems impair the development of motor skills such as sitting, standing, and walking, and may disrupt primary functions such as breathing and feeding. XLMTM is caused by changes (mutations ) in the MTM1 gene and is inherited in an X-linked recessive 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.

UniProtKB/Swiss-Prot : 73 Myopathy, centronuclear, X-linked: 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.

More information from OMIM: 310400 PS160150
GeneReviews: NBK1432

Related Diseases for Myopathy, Centronuclear, X-Linked

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

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 ptosis 32.4 RYR1 MTMR14 MTM1 DNM2 BIN1
2 sensory peripheral neuropathy 32.2 SBF2 MTMR2 MTM1
3 peliosis hepatis 32.1 MTM1 DNM2
4 myopathy, centronuclear, 2 32.1 RYR1 MTM1 BIN1
5 central core myopathy 32.1 RYR1 MTM1 DNM2
6 myopathy, centronuclear, 1 32.0 RYR1 MTMR14 MTM1 DNM2 BIN1
7 charcot-marie-tooth disease intermediate type 32.0 SBF2 MTMR2 MTM1 DNM2
8 charcot-marie-tooth disease, dominant intermediate b 32.0 SBF2 MTMR2 MTM1 DNM2
9 charcot-marie-tooth disease, axonal, type 2e 32.0 SBF2 SBF1 MTMR2 MTM1 DNM2
10 early-onset glaucoma 32.0 SBF2 SBF1 MTMR2 MTM1
11 peripheral nervous system disease 31.7 SBF2 RYR1 MTMR2 MTM1 DNM2
12 neuropathy, congenital hypomyelinating, 1, autosomal recessive 31.7 SBF2 SBF1 PIKFYVE MTMR2 MTM1 DNM2
13 charcot-marie-tooth disease, type 4b2 31.6 SBF2 SBF1 PIKFYVE MTMR2 MTMR1 MTM1
14 charcot-marie-tooth disease, type 4b1 31.6 SBF2 SBF1 PIKFYVE MTMR2 MTMR1 MTM1
15 congenital fiber-type disproportion 31.5 RYR1 MTM1 HACD1 DNM2 BIN1
16 charcot-marie-tooth disease, type 4b3 31.5 SBF2 SBF1 PIKFYVE MTMR3 MTMR2 MTM1
17 charcot-marie-tooth disease 31.1 SBF2 SBF1 PIKFYVE MTMR6 MTMR2 MTMR14
18 tooth disease 30.8 SBF2 SBF1 MTMR2 DNM2
19 myopathy, congenital 30.6 RYR1 MTM1 HACD1 DNM2
20 myopathy 30.2 SBF1 RYR1 MTMR2 MTMR14 MTMR1 MTM1
21 neuromuscular disease 30.1 SBF2 SBF1 RYR1 PIKFYVE MTMR2 MTM1
22 centronuclear myopathy 27.5 SBF2 SBF1 RYR1 PIKFYVE PIK3C2B MTMR8
23 polyhydramnios 11.6
24 myotubular myopathy with abnormal genital development 11.4
25 muscular disease 11.4
26 microcephaly 11.2
27 spinal muscular atrophy 11.2
28 dilated cardiomyopathy 11.2
29 respiratory system disease 11.2
30 spinal muscular atrophy, distal, autosomal recessive, 1 11.0
31 nemaline myopathy 5 11.0
32 inflammatory bowel disease 8 11.0
33 inflammatory bowel disease 21 11.0
34 myopathy, centronuclear, 4 11.0
35 myopathy, centronuclear, 6, with fiber-type disproportion 11.0
36 endocardium disease 11.0
37 spinal muscular atrophy type 0 11.0
38 ocular motility disease 11.0
39 congenital myasthenic syndrome 11.0
40 congenital structural myopathy 11.0
41 meningeal melanoma 11.0
42 malignant leptomeningeal tumor 11.0
43 muscle tissue disease 11.0
44 malignant hyperthermia 11.0
45 dental caries 10.6
46 myotonic dystrophy 10.5
47 infective endocarditis 10.5
48 respiratory failure 10.5
49 scoliosis 10.5
50 endocarditis 10.5

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



Diseases related to Myopathy, Centronuclear, X-Linked

Symptoms & Phenotypes for Myopathy, Centronuclear, X-Linked

Human phenotypes related to Myopathy, Centronuclear, X-Linked:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 atrioventricular block 58 31 frequent (33%) Frequent (79-30%) HP:0001678
5 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
6 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
7 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
8 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
9 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
10 cavernous hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0001048
11 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
12 head tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002346
13 respiratory failure requiring assisted ventilation 58 31 frequent (33%) Frequent (79-30%) HP:0004887
14 seizure 31 frequent (33%) HP:0001250
15 macrocephaly 31 HP:0000256
16 seizures 58 Frequent (79-30%)
17 hydrocephalus 31 HP:0000238
18 flexion contracture 31 HP:0001371
19 generalized muscle weakness 31 HP:0003324
20 cryptorchidism 31 HP:0000028
21 high palate 31 HP:0000218
22 neonatal respiratory distress 31 HP:0002643
23 arachnodactyly 31 HP:0001166
24 narrow face 31 HP:0000275
25 polyhydramnios 31 HP:0001561
26 facial palsy 31 HP:0010628
27 long face 31 HP:0000276
28 decreased fetal movement 31 HP:0001558
29 pyloric stenosis 31 HP:0002021
30 severe muscular hypotonia 31 HP:0006829
31 respiratory failure 31 HP:0002878
32 slender toe 31 HP:0011308
33 hypokinesia 31 HP:0002375
34 decreased liver function 31 HP:0001410
35 neck muscle weakness 31 HP:0000467
36 diaphragmatic eventration 31 HP:0009110
37 birth length greater than 97th percentile 31 HP:0003517

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
pyloric stenosis

Abdomen Liver:
decreased liver function
fatal liver hemorrhage

Head And Neck Mouth:
high-arched palate

Skeletal:
joint contractures

Head And Neck Head:
large head circumference

Chest Diaphragm:
eventration of the diaphragm
atrophic, thin diaphragm
elevated hemidiaphragm in symptomatic carrier females

Skeletal Hands:
slender, long digits
unilateral skeletal asymmetry in symptomatic carrier females

Muscle Soft Tissue:
generalized muscle weakness also seen in symptomatic carrier females
muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers
muscle fibers appear as fetal myotubules
muscle fibers are immunoreactive for desmin and vimentin

Respiratory:
neonatal respiratory distress
respiratory failure often resulting in ventilator dependency

Neurologic Central Nervous System:
areflexia
hypotonia, severe
decreased spontaneous movements
'floppy' infants
hydrocephalus (less common)

Head And Neck Eyes:
external ophthalmoplegia

Head And Neck Neck:
neck muscle weakness

Head And Neck Face:
facial muscle weakness
narrow, elongated face

Prenatal Manifestations Movement:
decreased fetal movements

Growth Height:
increased birth length (>90th percentile)

Skeletal Limbs:
unilateral skeletal asymmetry (arm and leg) in symptomatic carrier females

Skeletal Feet:
slender, long digits

Clinical features from OMIM:

310400

GenomeRNAi Phenotypes related to Myopathy, Centronuclear, X-Linked according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.11 MTMR4 PIK3C2B
2 Decreased viability GR00055-A-2 10.11 MTMR4 PIK3C2B
3 Decreased viability GR00173-A 10.11 MTMR12
4 Decreased viability GR00221-A-3 10.11 PIK3C2B
5 Decreased viability GR00221-A-4 10.11 PIK3C2B
6 Decreased viability GR00249-S 10.11 CMTM1 DOLPP1 MTMR8 PIKFYVE RYR1
7 Decreased viability GR00386-A-1 10.11 MTM1 MTMR12
8 Decreased viability GR00402-S-2 10.11 MTMR1 MTMR2 MTMR4 MTMR6
9 Increased Akt phosphorylation after EGF stimulation GR00204-A-2 8.96 MTMR2 MTMR3
10 Increased the percentage of infected cells GR00402-S-1 8.32 BIN1

MGI Mouse Phenotypes related to Myopathy, Centronuclear, X-Linked:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 BIN1 DNM2 HACD1 MTM1 MTMR14 PIKFYVE

Drugs & Therapeutics for Myopathy, Centronuclear, X-Linked

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Early Phase 1 51-84-3 187
2 Cholinergic Agents Early Phase 1
3 Cholinesterase Inhibitors Early Phase 1
4 Pyridostigmine Bromide Early Phase 1 101-26-8
5 Anticonvulsants Early Phase 1
6 Neurotransmitter Agents Early Phase 1
7 Bromides Early Phase 1

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized Comparative Parallel Study of Acellular Porcine Dermal Matrix Wound Dressing in the Management of Diabetic Foot Ulcers Completed NCT01353495 Phase 3
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 Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy Completed NCT01840657
6 The RECENSUS Study: A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Completed NCT02231697
7 INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger Completed NCT02704273
8 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Completed NCT02453152
9 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
10 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
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 Myopathy, Centronuclear, X-Linked

Genetic Tests for Myopathy, Centronuclear, X-Linked

Anatomical Context for Myopathy, Centronuclear, X-Linked

MalaCards organs/tissues related to Myopathy, Centronuclear, X-Linked:

40
Bone, Skeletal Muscle, Liver, Eye, Testes

Publications for Myopathy, Centronuclear, X-Linked

Articles related to Myopathy, Centronuclear, X-Linked:

(show top 50) (show all 170)
# Title Authors PMID Year
1
MTM1 mutations in X-linked myotubular myopathy. 24 6 56 61
10790201 2000
2
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. 24 61 6 56
9305655 1997
3
X-linked myotubular myopathy--a long-term follow-up study. 56 24 6
10726846 1998
4
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. 6 56 24
9285787 1997
5
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. 24 56 6
8640223 1996
6
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. 61 56 6
11552027 2001
7
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. 6 56 61
9450905 1998
8
Genetic linkage heterogeneity in myotubular myopathy. 6 56 61
7611280 1995
9
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. 56 6
12707446 2003
10
Diagnosis of X-linked myotubular myopathy by detection of myotubularin. 24 61 56
11456308 2001
11
Germline mosaicism in X-linked myotubular myopathy. 24 56 61
10466421 1999
12
A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy. 56 6
9199578 1997
13
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. 24 56
24569376 2014
14
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. 24 56
19197364 2009
15
X-linked myotubular myopathy in a family with three adult survivors. 6 24
12859411 2003
16
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. 6 24
12522554 2003
17
Medical complications in long-term survivors with X-linked myotubular myopathy. 24 56
9931531 1999
18
Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. 24 56
9541111 1998
19
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region. 24 56
7726166 1995
20
Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. 56 24
2357647 1990
21
Gene expression analyses in X-linked myotubular myopathy. 61 56
16157907 2005
22
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. 61 56
12391329 2002
23
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. 61 56
10714588 2000
24
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. 56 61
10323249 1999
25
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy. 61 56
10502779 1999
26
X-linked myotubular myopathy: clinical observations in ten additional cases. 56 61
8588581 1995
27
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28. 56 61
7881289 1994
28
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. 56 61
2352256 1990
29
X-linked recessive myotubular myopathy: II. Muscle morphology and human myogenesis. 56 61
6542063 1984
30
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study. 61 24
29149770 2018
31
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues. 24 61
28685322 2017
32
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male. 61 24
28622964 2017
33
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs. 24 61
28237839 2017
34
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. 24 61
28007904 2017
35
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers. 24 61
27017278 2016
36
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons. 61 24
26823526 2016
37
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. 61 24
24452262 2014
38
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. 24 61
23307925 2013
39
Clinical utility gene card for: Centronuclear and myotubular myopathies. 6
22617344 2012
40
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. 61 24
21440438 2011
41
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. 24 61
20434914 2010
42
Centronuclear myopathies: a widening concept. 24 61
20181480 2010
43
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. 61 24
19846786 2009
44
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. 24 61
19084976 2009
45
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. 6
17932957 2007
46
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. 61 24
17537630 2007
47
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. 24 61
17005396 2006
48
X-linked myotubular and centronuclear myopathies. 24 61
16042307 2005
49
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations. 56
15883335 2005
50
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. 56
15690409 2005

Variations for Myopathy, Centronuclear, X-Linked

ClinVar genetic disease variations for Myopathy, Centronuclear, X-Linked:

6 (show top 50) (show all 219) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTM1 NM_000252.2(MTM1):c.342+1G>ASNV Pathogenic 435903 rs1557413092 X:149783173-149783173 X:150614700-150614700
2 MTM1 NM_000252.2(MTM1):c.465del (p.Asn155fs)deletion Pathogenic 435901 rs1557413783 X:149807436-149807436 X:150638963-150638963
3 MTM1 NM_000252.2(MTM1):c.1178dup (p.Leu393fs)duplication Pathogenic 435902 rs1557414513 X:149826416-149826417 X:150657943-150657944
4 MTM1 NM_000252.2(MTM1):c.1210G>A (p.Glu404Lys)SNV Pathogenic 530855 rs781933660 X:149826450-149826450 X:150657977-150657977
5 MTM1 NM_000252.2(MTM1):c.1381C>T (p.Gln461Ter)SNV Pathogenic 633470 rs782234944 X:149828871-149828871 X:150660398-150660398
6 MTM1 NM_000252.2(MTM1):c.593A>C (p.Tyr198Ser)SNV Pathogenic 633473 rs1569565497 X:149809806-149809806 X:150641333-150641333
7 MTM1 NM_000252.2(MTM1):c.1053+1G>ASNV Pathogenic 633472 rs587783751 X:149818375-149818375 X:150649902-150649902
8 MTM1 NC_000023.10:g.(?_149831886)_(149840088_?)deldeletion Pathogenic 645882 X:149831886-149840088
9 MTM1 NC_000023.10:g.(?_149761067)_(149840078_?)deldeletion Pathogenic 658991 X:149761067-149840078
10 MTM1 NM_000252.2(MTM1):c.64-2A>GSNV Pathogenic 649278 X:149764960-149764960 X:150596496-150596496
11 MTM1 NM_000252.3(MTM1):c.136+1G>TSNV Pathogenic 804097 X:149765035-149765035 X:150596571-150596571
12 MTM1 NM_000252.3(MTM1):c.482_485TGGA[2] (p.Trp164fs)short repeat Pathogenic 804098 X:149807453-149807456 X:150638980-150638983
13 MTM1 NC_000023.10:g.(?_149831896)_(149832092_?)deldeletion Pathogenic 831990 X:149831896-149832092
14 MTM1 NM_000252.3(MTM1):c.624del (p.Ser209fs)deletion Pathogenic 851646 X:149809836-149809836 X:150641363-150641363
15 DNM2 NM_004945.3(DNM2):c.1844C>G (p.Ser615Trp)SNV Pathogenic 7286 rs121909095 19:10934538-10934538 19:10823862-10823862
16 MTM1 NM_000252.2(MTM1):c.566A>G (p.Asn189Ser)SNV Pathogenic 11053 rs132630302 X:149809779-149809779 X:150641306-150641306
17 MTM1 NM_000252.2(MTM1):c.1190A>G (p.Tyr397Cys)SNV Pathogenic 11054 rs132630303 X:149826430-149826430 X:150657957-150657957
18 MTM1 NM_000252.2(MTM1):c.205C>T (p.Arg69Cys)SNV Pathogenic 11055 rs132630304 X:149767124-149767124 X:150598660-150598660
19 MTM1 NM_000252.2(MTM1):c.141_144del (p.Glu48fs)deletion Pathogenic 11057 rs587783791 X:149767058-149767061 X:150598594-150598597
20 MTM1 NM_000252.2(MTM1):c.1261-10A>GSNV Pathogenic 11058 rs397518445 X:149828127-149828127 X:150659654-150659654
21 MTM1 NM_000252.2(MTM1):c.721C>T (p.Arg241Cys)SNV Pathogenic 11059 rs132630305 X:149814198-149814198 X:150645725-150645725
22 MTM1 NM_000252.2(MTM1):c.670C>T (p.Arg224Ter)SNV Pathogenic 11060 rs132630306 X:149809883-149809883 X:150641410-150641410
23 MTM1 NM_000252.2(MTM1):c.605del (p.Leu202fs)deletion Pathogenic 11061 rs672601325 X:149809815-149809815 X:150641342-150641342
24 MTM1 NM_000252.2(MTM1):c.469G>A (p.Glu157Lys)SNV Pathogenic 11062 rs132630307 X:149807440-149807440 X:150638967-150638967
25 MTM1 NM_000252.2(MTM1):c.145G>A (p.Val49Ile)SNV Pathogenic 158939 rs587783796 X:149767064-149767064 X:150598600-150598600
26 MTM1 NM_000252.2(MTM1):c.145G>T (p.Val49Phe)SNV Pathogenic 158940 rs587783796 X:149767064-149767064 X:150598600-150598600
27 MTM1 NM_000252.2(MTM1):c.153_156del (p.Ile52fs)deletion Pathogenic 158948 rs587783803 X:149767070-149767073 X:150598606-150598609
28 MTM1 NM_000252.2(MTM1):c.154del (p.Ile52fs)deletion Pathogenic 158949 rs587783804 X:149767073-149767073 X:150598609-150598609
29 MTM1 NM_000252.2(MTM1):c.205C>G (p.Arg69Gly)SNV Pathogenic 158954 rs132630304 X:149767124-149767124 X:150598660-150598660
30 MTM1 NM_000252.2(MTM1):c.208C>T (p.Leu70Phe)SNV Pathogenic 158955 rs587783809 X:149767127-149767127 X:150598663-150598663
31 MTM1 NM_000252.2(MTM1):c.231+1G>ASNV Pathogenic 158956 rs587783810 X:149767151-149767151 X:150598687-150598687
32 MTM1 NM_000252.2(MTM1):c.231+2T>GSNV Pathogenic 158957 rs587783811 X:149767152-149767152 X:150598688-150598688
33 MTM1 NM_000252.2(MTM1):c.232-3C>ASNV Pathogenic 158960 rs587783814 X:149783059-149783059 X:150614586-150614586
34 MTM1 NM_000252.2(MTM1):c.232-2A>CSNV Pathogenic 158959 rs587783813 X:149783060-149783060 X:150614587-150614587
35 MTM1 NM_000252.2(MTM1):c.232-1G>ASNV Pathogenic 158958 rs587783812 X:149783061-149783061 X:150614588-150614588
36 MTM1 NM_000252.2(MTM1):c.252del (p.Asp84fs)deletion Pathogenic 158961 rs587783815 X:149783082-149783082 X:150614609-150614609
37 MTM1 NM_000252.2(MTM1):c.260T>C (p.Leu87Pro)SNV Pathogenic 158962 rs587783816 X:149783090-149783090 X:150614617-150614617
38 MTM1 NM_000252.2(MTM1):c.301A>G (p.Ser101Gly)SNV Pathogenic 158964 rs587783818 X:149783131-149783131 X:150614658-150614658
39 MTM1 NM_000252.2(MTM1):c.340A>T (p.Lys114Ter)SNV Pathogenic 158965 rs587783819 X:149783170-149783170 X:150614697-150614697
40 MTM1 NM_000252.2(MTM1):c.70C>T (p.Arg24Ter)SNV Pathogenic 92678 rs398123275 X:149764968-149764968 X:150596504-150596504
41 MTM1 NM_000252.2(MTM1):c.2T>G (p.Met1Arg)SNV Pathogenic 158963 rs587783817 X:149761078-149761078 X:150592616-150592616
42 MTM1 NM_000252.2(MTM1):c.3G>A (p.Met1Ile)SNV Pathogenic 158969 rs587783823 X:149761079-149761079 X:150592617-150592617
43 MTM1 NM_000252.2(MTM1):c.63+1G>ASNV Pathogenic 158989 rs587783843 X:149761140-149761140 X:150592678-150592678
44 MTM1 NM_000252.2(MTM1):c.64-1G>ASNV Pathogenic 158993 rs587783846 X:149764961-149764961 X:150596497-150596497
45 MTM1 NM_000252.2(MTM1):c.85C>T (p.Arg29Ter)SNV Pathogenic 159004 rs587783857 X:149764983-149764983 X:150596519-150596519
46 MTM1 NM_000252.2(MTM1):c.109C>T (p.Arg37Ter)SNV Pathogenic 158895 rs587783753 X:149765007-149765007 X:150596543-150596543
47 MTM1 NM_000252.2(MTM1):c.343-2A>GSNV Pathogenic 158967 rs587783821 X:149787509-149787509 X:150619036-150619036
48 MTM1 NM_000252.2(MTM1):c.395_396AT[1] (p.Met133fs)short repeat Pathogenic 158968 rs587783822 X:149787563-149787564 X:150619090-150619091
49 MTM1 NM_000252.2(MTM1):c.402del (p.Phe134fs)deletion Pathogenic 158970 rs587783824 X:149787568-149787568 X:150619095-150619095
50 MTM1 NM_000252.2(MTM1):c.420C>G (p.Tyr140Ter)SNV Pathogenic 158971 rs587783825 X:149787588-149787588 X:150619115-150619115

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

73 (show top 50) (show all 57)
# Symbol AA change Variation ID SNP ID
1 MTM1 p.Arg69Cys VAR_006387 rs132630304
2 MTM1 p.Leu70Phe VAR_006388 rs587783809
3 MTM1 p.Leu87Pro VAR_006389 rs587783816
4 MTM1 p.Arg184Gly VAR_006390 rs587783835
5 MTM1 p.Asn189Ser VAR_006391 rs132630302
6 MTM1 p.Tyr198Asn VAR_006392
7 MTM1 p.Pro205Leu VAR_006393 rs587783841
8 MTM1 p.Ser229Pro VAR_006394
9 MTM1 p.Arg241Cys VAR_006395 rs132630305
10 MTM1 p.Arg241Leu VAR_006396
11 MTM1 p.Met317Arg VAR_006397
12 MTM1 p.Ser376Asn VAR_006398
13 MTM1 p.Gly378Arg VAR_006399 rs587783755
14 MTM1 p.Tyr397Cys VAR_006400 rs132630303
15 MTM1 p.Gly402Ala VAR_006401 rs587783762
16 MTM1 p.Glu404Lys VAR_006402 rs781933660
17 MTM1 p.Leu406Pro VAR_006403
18 MTM1 p.Arg421Gln VAR_006404 rs587783772
19 MTM1 p.Asp431Asn VAR_006406 rs886044782
20 MTM1 p.Asp433Asn VAR_006407 rs886044783
21 MTM1 p.His469Pro VAR_006408
22 MTM1 p.Trp499Arg VAR_006409 rs587783801
23 MTM1 p.Pro179Ser VAR_009217 rs587783832
24 MTM1 p.Ile225Thr VAR_009218
25 MTM1 p.Ile264Ser VAR_009219 rs587783856
26 MTM1 p.Lys510Asn VAR_009222
27 MTM1 p.Val49Phe VAR_018227 rs587783796
28 MTM1 p.Tyr68Asp VAR_018228
29 MTM1 p.Arg69Pro VAR_018229
30 MTM1 p.Arg69Ser VAR_018230
31 MTM1 p.Glu157Lys VAR_018231 rs132630307
32 MTM1 p.Asn180Lys VAR_018232
33 MTM1 p.Arg184Leu VAR_018233
34 MTM1 p.Thr186Ile VAR_018234 rs587783836
35 MTM1 p.Thr197Ile VAR_018235
36 MTM1 p.Pro199Ser VAR_018236
37 MTM1 p.Leu202Ser VAR_018237
38 MTM1 p.Pro226Thr VAR_018238 rs587783848
39 MTM1 p.Val227Met VAR_018239 rs587783850
40 MTM1 p.Leu228Pro VAR_018240 rs587783851
41 MTM1 p.Trp230Cys VAR_018241
42 MTM1 p.His232Arg VAR_018242
43 MTM1 p.Ala279Gly VAR_018243
44 MTM1 p.Trp346Cys VAR_018244
45 MTM1 p.Trp346Ser VAR_018245
46 MTM1 p.Val364Gly VAR_018246
47 MTM1 p.His374Asp VAR_018247 rs587783754
48 MTM1 p.Gly378Glu VAR_018248
49 MTM1 p.Ala389Asp VAR_018249
50 MTM1 p.Leu391Pro VAR_018250

Expression for Myopathy, Centronuclear, X-Linked

Search GEO for disease gene expression data for Myopathy, Centronuclear, X-Linked.

Pathways for Myopathy, Centronuclear, X-Linked

Pathways related to Myopathy, Centronuclear, X-Linked according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 PIKFYVE PIK3C2B MTMR8 MTMR6 MTMR4 MTMR3
2
Show member pathways
12.54 PIKFYVE PIK3C2B MTMR6 MTMR4 MTMR3 MTMR2
3
Show member pathways
12.22 PIKFYVE PIK3C2B MTMR8 MTMR6 MTMR4 MTMR3
4 11.68 MTMR4 MTMR3 MTMR14
5
Show member pathways
11.54 PIKFYVE PIK3C2B MTMR6 MTMR4 MTMR3 MTMR2
6 10.62 MTMR3 MTMR14

GO Terms for Myopathy, Centronuclear, X-Linked

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 SBF2 SBF1 RYR1 PIK3C2B MTMR9 MTMR8
2 cell projection GO:0042995 9.91 SBF2 MTMR9 MTMR6 MTMR2 MTM1 DNM2
3 cytosol GO:0005829 9.86 SBF2 SBF1 PIKFYVE PIK3C2B MTMR9 MTMR8
4 endosome GO:0005768 9.8 SBF2 PIKFYVE MTMR4 MTMR2 MTM1 DNM2
5 perinuclear region of cytoplasm GO:0048471 9.76 SBF2 SBF1 PIKFYVE MTMR9 MTMR6 MTMR2
6 membrane GO:0016020 9.6 SBF2 SBF1 RYR1 PIKFYVE PIK3C2B MTMR9
7 ruffle membrane GO:0032587 9.58 MTMR9 MTMR6 DNM2
8 I band GO:0031674 9.5 RYR1 MTM1 BIN1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 dephosphorylation GO:0016311 9.92 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
2 lipid metabolic process GO:0006629 9.91 MTMR6 MTMR3 MTMR2 MTMR1 MTM1 HACD1
3 protein dephosphorylation GO:0006470 9.85 SBF1 MTMR6 MTMR4 MTMR3 MTMR2 MTM1
4 endocytosis GO:0006897 9.8 MTMR9 MTMR6 DNM2 BIN1
5 peptidyl-tyrosine dephosphorylation GO:0035335 9.76 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
6 macroautophagy GO:0016236 9.69 PIK3C2B MTMR3 MTMR14
7 regulation of autophagy GO:0010506 9.65 MTMR8 MTMR4 MTMR3
8 regulation of phosphatidylinositol dephosphorylation GO:0060304 9.65 MTMR9 MTMR4 MTMR3 MTMR2 MTMR1
9 phosphatidylinositol dephosphorylation GO:0046856 9.61 MTMR9 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2
10 phosphatidylinositol metabolic process GO:0046488 9.55 PIKFYVE MTMR2
11 regulation of autophagosome assembly GO:2000785 9.54 PIKFYVE MTMR3
12 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.52 PIKFYVE PIK3C2B
13 myelin assembly GO:0032288 9.46 PIKFYVE MTMR2
14 phosphatidylinositol biosynthetic process GO:0006661 9.44 SBF1 PIKFYVE PIK3C2B MTMR9 MTMR8 MTMR6
15 phosphatidylinositol 5-phosphate metabolic process GO:1904562 9.4 PIKFYVE MTMR3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10.1 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
2 phosphatase activity GO:0016791 9.77 SBF1 MTMR4 MTMR2 MTMR1 MTM1
3 protein tyrosine phosphatase activity GO:0004725 9.76 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2 MTMR14
4 phosphoprotein phosphatase activity GO:0004721 9.69 MTMR4 MTMR3 MTM1
5 phosphatidylinositol binding GO:0035091 9.67 SBF2 PIK3C2B MTM1
6 protein phosphatase binding GO:0019903 9.65 MTMR9 MTMR4 MTMR3
7 protein serine/threonine phosphatase activity GO:0004722 9.63 MTMR6 MTMR4 MTMR3
8 phosphatase regulator activity GO:0019208 9.5 SBF2 SBF1 MTMR12
9 phosphatidylinositol-3,5-bisphosphate phosphatase activity GO:0106018 9.43 MTMR8 MTMR6
10 phosphatidylinositol phosphate phosphatase activity GO:0052866 9.43 MTMR6 MTMR2 MTMR1
11 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 9.43 MTMR8 MTMR4 MTMR3 MTMR2 MTMR1 MTM1
12 phosphatidylinositol-3-phosphatase activity GO:0004438 9.32 MTMR9 MTMR8 MTMR6 MTMR4 MTMR3 MTMR2

Sources for Myopathy, Centronuclear, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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