CNM2
MCID: MYP131
MIFTS: 51

Myopathy, Centronuclear, 2 (CNM2)

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

Aliases & Classifications for Myopathy, Centronuclear, 2

MalaCards integrated aliases for Myopathy, Centronuclear, 2:

Name: Myopathy, Centronuclear, 2 57 20 72 29 6
Myopathy, Centronuclear, Autosomal Recessive 57 20 13 44 70
Autosomal Recessive Centronuclear Myopathy 12 20 58 15 70
Centronuclear Myopathy 2 57 12 15
Ar-Cnm 12 20 58
Cnm2 57 12 72
Centronuclear Myopathy Autosomal Recessive 72
Myotubular Myopathy, Autosomal Recessive 57
Autosomal Recessive Myotubular Myopathy 72
Myopathy, Centronuclear, Type 2 39

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive centronuclear myopathy
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range infancy to 30 years)
see also x-linked and autosomal dominant forms


HPO:

31
myopathy, centronuclear, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Myopathy, Centronuclear, 2

GARD : 20 Autosomal recessive centronuclear myopathy (AR-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AR-CNM, specifically, affected people generally begin showing signs and symptoms during infancy or early childhood. The features of the condition can vary but may include progressive muscle weakness, foot abnormalities, high-arched palate, scoliosis, ptosis, mild to severe breathing problems, delayed motor milestones and cardiomyopathy (less commonly). Most cases of AR-CNM are caused by changes ( mutations ) in the BIN1 gene ; however, some affected families are reported to have mutations in the SPEG, TTN, or RYR1 genes. The condition is inherited in an autosomal 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.

MalaCards based summary : Myopathy, Centronuclear, 2, also known as myopathy, centronuclear, autosomal recessive, is related to myopathy, centronuclear, 5 and centronuclear myopathy, and has symptoms including waddling gait, ophthalmoplegia and facial paresis. An important gene associated with Myopathy, Centronuclear, 2 is BIN1 (Bridging Integrator 1), and among its related pathways/superpathways are Vesicle-mediated transport and Signaling by Rho GTPases. Affiliated tissues include skeletal muscle and heart, and related phenotypes are high palate and respiratory insufficiency

Disease Ontology : 12 A centronuclear myopathy that has material basis in autosomal recessive inheritance.

UniProtKB/Swiss-Prot : 72 Myopathy, centronuclear, 2: 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: 255200 PS160150

Related Diseases for Myopathy, Centronuclear, 2

Diseases in the Centronuclear Myopathy family:

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

Diseases related to Myopathy, Centronuclear, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 myopathy, centronuclear, 5 32.2 SPEG ASIC4-AS1
2 centronuclear myopathy 32.0 WASL TTN SPEG RYR1 DYSF BIN1
3 myopathy 30.9 TTN TPM2 SYNE2 SPEG RYR1 DYSF
4 batten-turner congenital myopathy 30.6 TTN TPM2 RYR1 DYSF
5 foot drop 10.4 TTN DYSF
6 limb-girdle muscular dystrophy type 1a 10.4 TTN DYSF
7 muscular dystrophy, limb-girdle, autosomal recessive 7 10.4 TTN DYSF
8 multiminicore disease 10.4 TTN RYR1
9 autosomal recessive limb-girdle muscular dystrophy type 2j 10.4 TTN DYSF
10 muscular dystrophy, limb-girdle, autosomal recessive 4 10.4 TTN DYSF
11 congenital structural myopathy 10.4 TTN TPM2 RYR1
12 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.3 TTN SYNE2 DYSF
13 emery-dreifuss muscular dystrophy 10.3 TTN SYNE2 DYSF
14 isolated elevated serum creatine phosphokinase levels 10.3 TTN RYR1 DYSF
15 rigid spine muscular dystrophy 1 10.3 TTN RYR1 DYSF
16 muscular dystrophy, limb-girdle, autosomal recessive 6 10.3 TTN DYSF
17 myopathy, centronuclear, x-linked 10.3 TTN RYR1 BIN1 AMPH
18 primary cutaneous amyloidosis 10.3 TTN RYR1 MYL10
19 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 TTN DYSF
20 muscular disease 10.3 TTN RYR1 DYSF
21 muscular dystrophy, limb-girdle, autosomal recessive 8 10.3 TTN DYSF
22 muscle tissue disease 10.3 TTN RYR1 DYSF
23 muscular dystrophy, congenital, lmna-related 10.3 TTN SYNE2 RYR1 DYSF
24 autosomal recessive limb-girdle muscular dystrophy type 2a 10.3 TTN DYSF
25 thymoma 10.3 TTN RYR1 AMPH
26 neuromuscular disease 10.3 TTN RYR1 DYSF AMPH
27 wiskott-aldrich syndrome 10.2 WASL TRIP10 ACTR3 ACTR2
28 congenital fiber-type disproportion 10.2 TTN TPM2 RYR1 DYSF BIN1
29 cardiomyopathy, familial hypertrophic, 1 10.2 TTN TPM2 RHOU MYL10
30 myopathy, myofibrillar, 3 10.2 TTN DYSF
31 myositis 10.2 TTN RYR1 DYSF
32 cardiac arrhythmia 10.1
33 respiratory failure 10.1
34 hypotonia 10.1
35 specific learning disability 10.1 SYNE2 RYR1
36 myopathy, centronuclear, 1 9.7 WASL TRIP10 TPM2 SNAP91 RYR1 GCN1

Graphical network of the top 20 diseases related to Myopathy, Centronuclear, 2:



Diseases related to Myopathy, Centronuclear, 2

Symptoms & Phenotypes for Myopathy, Centronuclear, 2

Human phenotypes related to Myopathy, Centronuclear, 2:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 occasional (7.5%) Frequent (79-30%) HP:0000218
2 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
3 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
4 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
5 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
6 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
7 generalized amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003700
8 progressive muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003323
9 gowers sign 58 31 frequent (33%) Frequent (79-30%) HP:0003391
10 difficulty climbing stairs 58 31 frequent (33%) Frequent (79-30%) HP:0003551
11 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
12 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
13 dysphonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001618
14 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
15 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
16 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
17 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
18 scapular winging 58 31 occasional (7.5%) Occasional (29-5%) HP:0003691
19 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
20 type 1 muscle fiber predominance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003803
21 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
22 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
23 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
24 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
25 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
26 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
27 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
28 hip contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0003273
29 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
30 long fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0100807
31 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
32 centrally nucleated skeletal muscle fibers 58 31 occasional (7.5%) Occasional (29-5%) HP:0003687
33 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003403
34 respiratory insufficiency due to muscle weakness 31 occasional (7.5%) HP:0002747
35 facial palsy 58 31 Frequent (79-30%) HP:0010628
36 scoliosis 31 HP:0002650
37 ptosis 31 HP:0000508
38 kyphosis 31 HP:0002808
39 abnormal facial shape 58 Occasional (29-5%)
40 neonatal hypotonia 31 HP:0001319
41 flexion contracture 31 HP:0001371
42 feeding difficulties in infancy 31 HP:0008872
43 emg: myopathic abnormalities 31 HP:0003458
44 ophthalmoparesis 58 Occasional (29-5%)
45 distal muscle weakness 31 HP:0002460
46 proximal muscle weakness 31 HP:0003701
47 axial muscle weakness 31 HP:0003327

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
scoliosis
kyphosis
hyperlordosis

Neurologic Central Nervous System:
dysarthria
dysphonia
waddling gait
delayed motor development
mental retardation, mild (1 patient)

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Face:
facial muscle weakness
long face (1 patient)

Head And Neck Mouth:
high-arched palate (1 patient)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging (1 patient)

Skeletal Feet:
pes cavus (1 patient)
pes equinovarus (1 patient)

Head And Neck Eyes:
ptosis
ophthalmoplegia

Muscle Soft Tissue:
neonatal hypotonia
axial muscle weakness
gowers sign
myopathic changes seen on emg
distal muscle weakness may occur
more
Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
joint contractures

Respiratory:
respiratory insufficiency due to muscle weakness (1 patient)

Skeletal Hands:
thin hands with long fingers (1 patient)

Clinical features from OMIM®:

255200 (Updated 20-May-2021)

UMLS symptoms related to Myopathy, Centronuclear, 2:


waddling gait; ophthalmoplegia; facial paresis

MGI Mouse Phenotypes related to Myopathy, Centronuclear, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 ACTR2 ACTR3 AMPH BIN1 CDC14A FES
2 muscle MP:0005369 9.17 BIN1 DYSF FES RYR1 SPEG SYNE2

Drugs & Therapeutics for Myopathy, Centronuclear, 2

Search Clinical Trials , NIH Clinical Center for Myopathy, Centronuclear, 2

Cochrane evidence based reviews: myopathy, centronuclear, autosomal recessive

Genetic Tests for Myopathy, Centronuclear, 2

Genetic tests related to Myopathy, Centronuclear, 2:

# Genetic test Affiliating Genes
1 Myopathy, Centronuclear, 2 29 BIN1

Anatomical Context for Myopathy, Centronuclear, 2

MalaCards organs/tissues related to Myopathy, Centronuclear, 2:

40
Skeletal Muscle, Heart

Publications for Myopathy, Centronuclear, 2

Articles related to Myopathy, Centronuclear, 2:

(show all 20)
# Title Authors PMID Year
1
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. 61 57 6
17676042 2007
2
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. 57 6
29950440 2018
3
Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. 6 57
20142620 2010
4
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy. 61 6
24549043 2014
5
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. 6
25087613 2014
6
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization. 6
24755653 2014
7
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. 57
8544184 1995
8
Familial centronuclear myopathy. 57
7211157 1980
9
Familial centronuclear myopathy. 57
5478951 1970
10
Skeletal muscle. Basic and clinical aspects and illustrative new diseases. 57
5342815 1967
11
Familial centronuclear myopathy: a clinical and pathological study. 57
15088533 1967
12
Neuromuscular blocking effects of cisatracurium and its antagonism with neostigmine in a canine model of autosomal-recessive centronuclear myopathy. 61
26582854 2015
13
Neuromuscular blocking effects of vecuronium in dogs with autosomal-recessive centronuclear myopathy. 61
25815571 2015
14
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. 61
25260562 2014
15
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. 61
23754947 2013
16
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. 61
21129173 2010
17
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. 61
20476667 2009
18
[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. 61
18154705 2007
19
X-linked myotubular and centronuclear myopathies. 61
16042307 2005
20
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. 61
15829503 2005

Variations for Myopathy, Centronuclear, 2

ClinVar genetic disease variations for Myopathy, Centronuclear, 2:

6 (show top 50) (show all 262)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BIN1 NM_139343.3(BIN1):c.105G>T (p.Lys35Asn) SNV Pathogenic 8297 rs121909273 GRCh37: 2:127834262-127834262
GRCh38: 2:127076686-127076686
2 BIN1 NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) SNV Pathogenic 8298 rs121909274 GRCh37: 2:127826568-127826568
GRCh38: 2:127068992-127068992
3 ASIC4-AS1 , SPEG NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) SNV Pathogenic 144077 rs587777672 GRCh37: 2:220348882-220348882
GRCh38: 2:219484160-219484160
4 SPEG NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter) SNV Pathogenic 144078 rs587777673 GRCh37: 2:220338454-220338454
GRCh38: 2:219473732-219473732
5 SPEG NM_005876.5(SPEG):c.3709_3715+29del Deletion Pathogenic 144079 rs587777674 GRCh37: 2:220334093-220334128
GRCh38: 2:219469371-219469406
6 SPEG NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs) Indel Pathogenic 144080 rs587777675 GRCh37: 2:220331929-220331930
GRCh38: 2:219467207-219467208
7 ASIC4-AS1 , SPEG NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val) SNV Pathogenic 144081 rs587777676 GRCh37: 2:220353896-220353896
GRCh38: 2:219489174-219489174
8 BIN1 NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) SNV Pathogenic 158013 rs587783343 GRCh37: 2:127806171-127806171
GRCh38: 2:127048595-127048595
9 SPEG NM_005876.5(SPEG):c.331C>T (p.Gln111Ter) SNV Pathogenic 1028949 GRCh37: 2:220300030-220300030
GRCh38: 2:219435308-219435308
10 BIN1 NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) SNV Likely pathogenic 617681 rs777176261 GRCh37: 2:127821221-127821221
GRCh38: 2:127063645-127063645
11 BIN1 NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) SNV Likely pathogenic 617682 rs1249621033 GRCh37: 2:127826586-127826586
GRCh38: 2:127069010-127069010
12 BIN1 NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) SNV Likely pathogenic 8299 rs121909275 GRCh37: 2:127806161-127806161
GRCh38: 2:127048585-127048585
13 BIN1 NM_139343.3(BIN1):c.1132-2A>G SNV Likely pathogenic 566386 rs1295546366 GRCh37: 2:127811590-127811590
GRCh38: 2:127054014-127054014
14 ASIC4-AS1 , SPEG NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) Duplication Likely pathogenic 813888 rs1575201712 GRCh37: 2:220355171-220355172
GRCh38: 2:219490449-219490450
15 SPEG NM_005876.5(SPEG):c.2183del (p.Leu728fs) Deletion Likely pathogenic 813889 rs1575065895 GRCh37: 2:220315927-220315927
GRCh38: 2:219451205-219451205
16 BIN1 NM_139343.3(BIN1):c.906C>T (p.Gly302=) SNV Conflicting interpretations of pathogenicity 262480 rs371258305 GRCh37: 2:127816683-127816683
GRCh38: 2:127059107-127059107
17 BIN1 NM_139343.3(BIN1):c.1629T>G (p.Ala543=) SNV Conflicting interpretations of pathogenicity 530869 rs143258043 GRCh37: 2:127808042-127808042
GRCh38: 2:127050466-127050466
18 BIN1 NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) SNV Conflicting interpretations of pathogenicity 8300 rs267606681 GRCh37: 2:127826558-127826558
GRCh38: 2:127068982-127068982
19 BIN1 NM_139343.3(BIN1):c.30G>A (p.Thr10=) SNV Conflicting interpretations of pathogenicity 158014 rs35535012 GRCh37: 2:127864490-127864490
GRCh38: 2:127106914-127106914
20 BIN1 NM_139343.3(BIN1):c.888C>T (p.Ser296=) SNV Conflicting interpretations of pathogenicity 158021 rs114833236 GRCh37: 2:127816701-127816701
GRCh38: 2:127059125-127059125
21 BIN1 NM_139343.3(BIN1):c.1047G>A (p.Pro349=) SNV Conflicting interpretations of pathogenicity 331051 rs148945502 GRCh37: 2:127815133-127815133
GRCh38: 2:127057557-127057557
22 BIN1 NM_139343.3(BIN1):c.1143G>A (p.Pro381=) SNV Conflicting interpretations of pathogenicity 331048 rs372360787 GRCh37: 2:127811577-127811577
GRCh38: 2:127054001-127054001
23 BIN1 NM_139343.3(BIN1):c.681G>A (p.Leu227=) SNV Conflicting interpretations of pathogenicity 331053 rs199658397 GRCh37: 2:127821526-127821526
GRCh38: 2:127063950-127063950
24 BIN1 NM_139343.3(BIN1):c.1473T>C (p.Pro491=) SNV Conflicting interpretations of pathogenicity 331045 rs779756862 GRCh37: 2:127808477-127808477
GRCh38: 2:127050901-127050901
25 BIN1 NM_139343.3(BIN1):c.384G>A (p.Thr128=) SNV Conflicting interpretations of pathogenicity 331055 rs61748158 GRCh37: 2:127827598-127827598
GRCh38: 2:127070022-127070022
26 BIN1 NM_139343.3(BIN1):c.1132-7T>C SNV Conflicting interpretations of pathogenicity 158007 rs115938552 GRCh37: 2:127811595-127811595
GRCh38: 2:127054019-127054019
27 BIN1 NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) SNV Conflicting interpretations of pathogenicity 158011 rs138047593 GRCh37: 2:127808046-127808046
GRCh38: 2:127050470-127050470
28 BIN1 NM_139343.3(BIN1):c.675G>A (p.Glu225=) SNV Conflicting interpretations of pathogenicity 766827 rs148179522 GRCh37: 2:127821532-127821532
GRCh38: 2:127063956-127063956
29 BIN1 NM_139343.3(BIN1):c.942C>T (p.His314=) SNV Conflicting interpretations of pathogenicity 193876 rs370911793 GRCh37: 2:127816647-127816647
GRCh38: 2:127059071-127059071
30 BIN1 and overlap with 1 gene(s) NC_000002.11:g.(?_127821127)_(127834302_?)dup Duplication Uncertain significance 530874 GRCh37: 2:127821127-127834302
GRCh38: 2:127063551-127076726
31 BIN1 NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) SNV Uncertain significance 288375 rs886043878 GRCh37: 2:127808094-127808094
GRCh38: 2:127050518-127050518
32 CYP1B1 NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) SNV Uncertain significance 7739 rs79204362 GRCh37: 2:38298394-38298394
GRCh38: 2:38071251-38071251
33 ASIC4-AS1 , SPEG NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) Deletion Uncertain significance 800805 rs1575202038 GRCh37: 2:220355235-220355237
GRCh38: 2:219490513-219490515
34 SPEG NM_005876.5(SPEG):c.3998C>T (p.Thr1333Met) SNV Uncertain significance 1028950 GRCh37: 2:220337669-220337669
GRCh38: 2:219472947-219472947
35 SPEG NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) SNV Uncertain significance 1028951 GRCh37: 2:220309404-220309404
GRCh38: 2:219444682-219444682
36 SPEG NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) SNV Uncertain significance 1028952 GRCh37: 2:220342440-220342440
GRCh38: 2:219477718-219477718
37 ASIC4-AS1 , SPEG NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg) SNV Uncertain significance 1028953 GRCh37: 2:220347928-220347928
GRCh38: 2:219483206-219483206
38 ASIC4-AS1 , SPEG NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) SNV Uncertain significance 1028954 GRCh37: 2:220348082-220348082
GRCh38: 2:219483360-219483360
39 SPEG NM_005876.5(SPEG):c.1301G>A (p.Arg434His) SNV Uncertain significance 1032368 GRCh37: 2:220313181-220313181
GRCh38: 2:219448459-219448459
40 SPEG NM_005876.5(SPEG):c.4129G>A (p.Val1377Met) SNV Uncertain significance 1032369 GRCh37: 2:220337800-220337800
GRCh38: 2:219473078-219473078
41 SPEG NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) SNV Uncertain significance 1032370 GRCh37: 2:220338476-220338476
GRCh38: 2:219473754-219473754
42 SPEG NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) SNV Uncertain significance 1032371 GRCh37: 2:220342727-220342727
GRCh38: 2:219478005-219478005
43 BIN1 NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) SNV Uncertain significance 1037947 GRCh37: 2:127808036-127808036
GRCh38: 2:127050460-127050460
44 BIN1 NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) SNV Uncertain significance 1038931 GRCh37: 2:127825807-127825807
GRCh38: 2:127068231-127068231
45 BIN1 NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) SNV Uncertain significance 1040853 GRCh37: 2:127816669-127816669
GRCh38: 2:127059093-127059093
46 BIN1 NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) SNV Uncertain significance 1041563 GRCh37: 2:127806188-127806188
GRCh38: 2:127048612-127048612
47 BIN1 NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) SNV Uncertain significance 1042004 GRCh37: 2:127811573-127811573
GRCh38: 2:127053997-127053997
48 BIN1 NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) SNV Uncertain significance 1043903 GRCh37: 2:127864436-127864436
GRCh38: 2:127106860-127106860
49 BIN1 NM_139343.3(BIN1):c.224T>C (p.Met75Thr) SNV Uncertain significance 1045743 GRCh37: 2:127828220-127828220
GRCh38: 2:127070644-127070644
50 BIN1 NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) SNV Uncertain significance 1047350 GRCh37: 2:127816643-127816643
GRCh38: 2:127059067-127059067

UniProtKB/Swiss-Prot genetic disease variations for Myopathy, Centronuclear, 2:

72
# Symbol AA change Variation ID SNP ID
1 BIN1 p.Lys35Asn VAR_037425 rs121909273
2 BIN1 p.Asp151Asn VAR_037426 rs121909274
3 BIN1 p.Arg145Cys VAR_081082 rs124962103
4 BIN1 p.Arg154Gln VAR_081083 rs267606681
5 BIN1 p.Arg234Cys VAR_081084 rs777176261

Expression for Myopathy, Centronuclear, 2

Search GEO for disease gene expression data for Myopathy, Centronuclear, 2.

Pathways for Myopathy, Centronuclear, 2

Pathways related to Myopathy, Centronuclear, 2 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 WASL TRIP10 SNAP91 BIN1 AMPH ACTR3
2
Show member pathways
12.82 WASL TRIP10 RHOU ACTR3 ACTR2
3
Show member pathways
12.64 TTN TPM2 RYR1 MYL10 DYSF
4 12.42 WASL MYL10 ACTR3 ACTR2
5
Show member pathways
12.2 WASL FES ACTR3 ACTR2
6 12.17 WASL MYL10 ACTR3 ACTR2
7 11.96 WASL BIN1 AMPH ACTR3 ACTR2
8 11.85 WASL ACTR3 ACTR2
9 11.71 WASL ACTR3 ACTR2
10 11.63 WASL FES ACTR3 ACTR2
11
Show member pathways
11.54 WASL TRIP10 SNAP91 BIN1 AMPH ACTR3
12 11.52 WASL ACTR3 ACTR2
13 11.26 WASL ACTR3 ACTR2
14 11.24 BIN1 AMPH ACTR3 ACTR2
15 11.15 WASL ACTR3 ACTR2
16 11.05 TPM2 MYL10 DYSF

GO Terms for Myopathy, Centronuclear, 2

Cellular components related to Myopathy, Centronuclear, 2 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.3 WDFY3 WASL TTN TRIP10 TPM2 SYNE2
2 plasma membrane GO:0005886 10.26 WDFY3 WASL TTN TRIP10 SYNE2 SNAP91
3 extracellular exosome GO:0070062 10.1 WASL TTN TRIP10 SYNE2 RYR1 DYSF
4 cytosol GO:0005829 10.1 WDFY3 WASL TTN TRIP10 TPM2 RHOU
5 cell projection GO:0042995 9.99 WDFY3 TRIP10 RHOU CDC14A ACTR3 ACTR2
6 focal adhesion GO:0005925 9.8 SYNE2 RHOU FES ACTR3 ACTR2
7 Z disc GO:0030018 9.62 TTN SYNE2 RYR1 BIN1
8 Arp2/3 protein complex GO:0005885 9.43 ACTR3 ACTR2
9 actin cytoskeleton GO:0015629 9.43 WASL TPM2 BIN1 AMPH ACTR3 ACTR2
10 actin cap GO:0030478 9.37 WASL ACTR2
11 I band GO:0031674 9.33 TTN RYR1 BIN1
12 cytoskeleton GO:0005856 9.32 WASL TRIP10 TPM2 SYNE2 FES CDC14A

Biological processes related to Myopathy, Centronuclear, 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.76 TRIP10 RHOU BIN1 AMPH
2 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.71 WASL ACTR3 ACTR2
3 actin filament organization GO:0007015 9.67 WASL TPM2 ACTR3 ACTR2
4 ephrin receptor signaling pathway GO:0048013 9.65 WASL ACTR3 ACTR2
5 muscle contraction GO:0006936 9.55 TTN TPM2 RYR1 MYL10 DYSF
6 Arp2/3 complex-mediated actin nucleation GO:0034314 9.52 ACTR3 ACTR2
7 muscle cell differentiation GO:0042692 9.51 SPEG BIN1
8 vesicle budding from membrane GO:0006900 9.49 WASL SNAP91
9 T-tubule organization GO:0033292 9.43 DYSF BIN1
10 asymmetric cell division GO:0008356 9.4 ACTR3 ACTR2
11 meiotic cytokinesis GO:0033206 9.32 ACTR3 ACTR2
12 meiotic chromosome movement towards spindle pole GO:0016344 9.26 ACTR3 ACTR2
13 spindle localization GO:0051653 9.13 WASL ACTR3 ACTR2
14 membrane organization GO:0061024 9.1 WASL TRIP10 BIN1 AMPH ACTR3 ACTR2

Molecular functions related to Myopathy, Centronuclear, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.62 WDFY3 TRIP10 FES DYSF
2 actin binding GO:0003779 9.55 WASL TPM2 SYNE2 ACTR3 ACTR2
3 1-phosphatidylinositol binding GO:0005545 9.26 WDFY3 SNAP91
4 phospholipid binding GO:0005543 9.26 SNAP91 DYSF BIN1 AMPH
5 actin filament binding GO:0051015 9.1 TTN TPM2 SYNE2 BIN1 ACTR3 ACTR2

Sources for Myopathy, Centronuclear, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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