NM
MCID: NML001
MIFTS: 51

Nemaline Myopathy (NM)

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

Aliases & Classifications for Nemaline Myopathy

MalaCards integrated aliases for Nemaline Myopathy:

Name: Nemaline Myopathy 12 75 24 53 25 59 37 29 6 15
Nemaline Rod Myopathy 12 24 53 59
Rod Myopathy 12 75 53 25
Nemaline Body Disease 12 53 25
Myopathies, Nemaline 25 44 72
Nemaline Rod Disease 53 25
Myopathy, Nemaline 25 40
Rod-Body Myopathy 53 25
Rod Body Disease 53 25
Nm 53 59
Congenital Rod Disease 53
Myopathies Nemaline 55
Nemaline Bodies 29
Nem 59

Characteristics:

Orphanet epidemiological data:

59
nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

GeneReviews:

24
Penetrance Data are insufficient to draw conclusions about penetrance in dominant (acta1-, tpm3-, tpm2-, and kbtbd13-related) forms of nm.

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3191
KEGG 37 H00698
MeSH 44 D017696
SNOMED-CT 68 75072002
ICD10 33 G71.2
MESH via Orphanet 45 D017696
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 73 C0206157
Orphanet 59 ORPHA607
UMLS 72 C0206157

Summaries for Nemaline Myopathy

Genetics Home Reference : 25 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset. The types are distinguished by the age when symptoms first appear and the severity of symptoms; however, there is overlap among the various types. The severe congenital type is the most life-threatening. Most individuals with this type do not survive past early childhood due to respiratory failure. The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted. People with the childhood-onset type usually develop muscle weakness in adolescence. The adult-onset type is the mildest of all the various types. People with this type usually develop muscle weakness between ages 20 and 50.

MalaCards based summary : Nemaline Myopathy, also known as nemaline rod myopathy, is related to nemaline myopathy 2 and intermediate congenital nemaline myopathy. An important gene associated with Nemaline Myopathy is NEB (Nebulin), and among its related pathways/superpathways are Cardiac muscle contraction and Axon guidance. The drug Tyrosine has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotype is muscle.

Disease Ontology : 12 A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.

NIH Rare Diseases : 53 Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.

KEGG : 37
Nemaline myopathy (NM) is the most common congenital myopathy inherited in an autosomal dominant or autosomal recessive manner. It is characterized by the presence of rods or nemaline bodies, which are red-purple inclusions in myofibers detected by modified Gomori trichrome technique. The hallmark symptoms are generalized muscle weakness with facial involvement or predominant involvement of proximal limb and respiratory muscles. Currently, NM is classified into six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital form; childhood-onset form; and adult-onset (late-onset) form. Mutations in several genes, encoding components of the sarcomeric thin filaments, have been identified. Mutations in ACTA1 and NEB nebulin are the most common.

Wikipedia : 75 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews: NBK1288

Related Diseases for Nemaline Myopathy

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3 Nemaline Myopathy 2
Nemaline Myopathy 5 Nemaline Myopathy 6
Nemaline Myopathy 1 Nemaline Myopathy 4
Nemaline Myopathy 7 Nemaline Myopathy 8
Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 2 35.1 TPM3 NEB
2 intermediate congenital nemaline myopathy 34.5 TPM3 NEB KLHL41 ACTA1
3 severe congenital nemaline myopathy 34.1 NEB LMOD3 KLHL41 KLHL40 ACTA1
4 childhood-onset nemaline myopathy 34.0 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
5 typical congenital nemaline myopathy 33.8 TPM2 NEB LMOD3 KLHL41 CFL2 ACTA1
6 myopathy, congenital 33.2 TPM3 TNNT1 NEB ACTA1
7 cap myopathy 31.4 TPM3 TPM2 ACTA1
8 myopathy 30.9 TPM3 TPM2 TNNT1 NEB LMOD3 KLHL40
9 congenital fiber-type disproportion 30.7 TPM3 TPM2 CFL2 ACTA1
10 myopathy, congenital, with fiber-type disproportion 30.5 TPM3 ACTA1
11 muscular disease 30.5 TPM3 TPM2 NEB KBTBD13 ACTA1
12 polymyositis 28.5 MIR155 MIR146B MIR132 MIR130A MIR127
13 muscular dystrophy, duchenne type 28.1 MIR154 MIR148A MIR146B MIR134 MIR130A MIR127
14 dermatomyositis 27.2 MIR155 MIR154 MIR148B MIR146B MIR132 MIR130A
15 nemaline myopathy 5 13.0
16 nemaline myopathy 3 13.0
17 nemaline myopathy 1 12.9
18 nemaline myopathy 4 12.9
19 nemaline myopathy 7 12.9
20 nemaline myopathy 8 12.9
21 nemaline myopathy 6 12.9
22 nemaline myopathy 11, autosomal recessive 12.9
23 nemaline myopathy 10 12.9
24 nemaline myopathy 9 12.9
25 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.8
26 adult-onset nemaline myopathy 12.7
27 obsolete: acquired rod-body myopathy 12.5
28 congenital nemaline myopathy 12.5
29 intranuclear rod myopathy 11.7
30 actin-accumulation myopathy 11.5
31 hypotonia 10.9
32 respiratory failure 10.8
33 atrial standstill 1 10.6
34 neuromuscular disease 10.6
35 foot drop 10.6 NEB ACTA1
36 alkuraya-kucinskas syndrome 10.6
37 congenital amyoplasia 10.6
38 hypertrophic cardiomyopathy 10.5
39 scoliosis 10.5
40 dilated cardiomyopathy 10.5
41 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.4 TPM3 TPM2
42 central core disease of muscle 10.4
43 monoclonal gammopathy of uncertain significance 10.4
44 dysphagia 10.4
45 kearns-sayre syndrome 10.4
46 distal arthrogryposis 10.4
47 muscular dystrophy 10.4
48 tremor 10.4
49 hypothyroidism 10.3
50 47,xyy 10.3

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



Diseases related to Nemaline Myopathy

Symptoms & Phenotypes for Nemaline Myopathy

MGI Mouse Phenotypes related to Nemaline Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB

Drugs & Therapeutics for Nemaline Myopathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of TNNT1-Myopathy With L-Tyrosine. A Double-blind, Placebo-controlled Crossover Trial. Unknown status NCT02035501 Phase 2 L-Tyrosine;Placebo
2 Inspiratory Muscle Training in Patients With Nemaline Myopathy Recruiting NCT03728803
3 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
4 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Recruiting NCT01403402
5 Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies Compared to Healthy Controls Active, not recruiting NCT03018184
6 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Enrolling by invitation NCT03211923

Search NIH Clinical Center for Nemaline Myopathy

Cochrane evidence based reviews: myopathies, nemaline

Genetic Tests for Nemaline Myopathy

Genetic tests related to Nemaline Myopathy:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 29
2 Nemaline Bodies 29

Anatomical Context for Nemaline Myopathy

MalaCards organs/tissues related to Nemaline Myopathy:

41
Skeletal Muscle, Heart, Testes, Brain, Eye

Publications for Nemaline Myopathy

Articles related to Nemaline Myopathy:

(show top 50) (show all 733)
# Title Authors PMID Year
1
Novel RYR1 missense mutation causes core rod myopathy. 9 38 4
18312400 2008
2
Nebulin--a giant chameleon. 9 38 4
19181091 2008
3
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). 9 38 4
17846275 2007
4
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. 9 38 4
16427282 2006
5
Magnetic resonance imaging of muscle in nemaline myopathy. 9 38 4
15564032 2004
6
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 9 38 4
15336686 2004
7
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. 9 38 4
15198992 2004
8
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 9 38 4
15236405 2004
9
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 9 38 4
12921789 2003
10
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. 9 38 4
12732643 2003
11
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 9 38 4
12805120 2003
12
Clinical course correlates poorly with muscle pathology in nemaline myopathy. 9 38 4
12601110 2003
13
Nebulin mutations in autosomal recessive nemaline myopathy: an update. 9 38 4
12207938 2002
14
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 9 38 4
11333380 2001
15
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. 9 38 4
11166164 2001
16
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 9 38 4
10619715 1999
17
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 9 38 4
10508519 1999
18
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. 38 4
25182138 2015
19
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 38 4
25654555 2015
20
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy. 38 4
24610938 2014
21
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 38 4
24692096 2014
22
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. 38 4
24689076 2014
23
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. 38 4
24268659 2013
24
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. 38 4
23746549 2013
25
Nemaline myopathy with dilated cardiomyopathy in childhood. 38 4
23650303 2013
26
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 38 4
23394784 2013
27
Myopathies associated with β-tropomyosin mutations. 38 4
22749895 2012
28
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. 38 4
22980765 2012
29
Congenital myopathy caused by a novel missense mutation in the CFL2 gene. 38 4
22560515 2012
30
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. 38 4
22067542 2011
31
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. 38 4
21109227 2010
32
Dietary L-tyrosine supplementation in nemaline myopathy. 38 4
18079309 2008
33
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 38 4
18300303 2008
34
Distinctive patterns of microRNA expression in primary muscular disorders. 38 88
17942673 2007
35
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. 38 4
17160903 2007
36
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 38 4
16917880 2006
37
Muscle slowness in a family with nemaline myopathy. 38 4
16793268 2006
38
Sporadic late onset nemaline myopathy. 38 4
16148261 2005
39
Myofiber adaptational response to exercise in a mouse model of nemaline myopathy. 38 4
15372535 2004
40
Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive. 38 4
15534765 2004
41
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. 38 4
15221447 2004
42
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. 38 4
12899878 2003
43
Nemaline myopathy: a possible late complication of Hodgkin's disease therapy. 38 4
14506646 2003
44
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. 38 4
12731651 2003
45
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. 38 4
12196661 2002
46
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. 38 4
11738357 2002
47
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. 38 4
12006676 2002
48
Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands. 38 4
11525890 2001
49
Nemaline myopathy: a clinical study of 143 cases. 38 4
11558787 2001
50
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle. 38 4
11422377 2001

Variations for Nemaline Myopathy

ClinVar genetic disease variations for Nemaline Myopathy:

6 (show top 50) (show all 117)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NEB NM_001271208.2(NEB): c.11164C> T (p.Arg3722Ter) single nucleotide variant Pathogenic rs928945364 2:152473895-152473895 2:151617381-151617381
2 NEB NM_001271208.2(NEB): c.19097G> T (p.Ser6366Ile) single nucleotide variant Pathogenic rs191579691 2:152417726-152417726 2:151561212-151561212
3 NEB NM_001271208.2(NEB): c.78+1G> A single nucleotide variant Pathogenic rs778593702 2:152586128-152586128 2:151729614-151729614
4 NEB NM_001271208.2(NEB): c.24632_24633del (p.Pro8211fs) deletion Pathogenic rs555445835 2:152350726-152350727 2:151494212-151494213
5 NEB NM_001271208.2(NEB): c.25241T> G (p.Leu8414Ter) single nucleotide variant Pathogenic 2:152348211-152348211 2:151491697-151491697
6 NEB NM_001271208.2(NEB): c.24407_24410dup (p.Leu8137fs) duplication Pathogenic/Likely pathogenic 2:152353543-152353546 2:151497029-151497032
7 NEB NM_001271208.2(NEB): c.22275C> G (p.Tyr7425Ter) single nucleotide variant Pathogenic/Likely pathogenic 2:152381779-152381779 2:151525265-151525265
8 NEB NM_001271208.2(NEB): c.24314_24317dup (p.Leu8106fs) duplication Pathogenic/Likely pathogenic rs781667543 2:152354228-152354231 2:151497714-151497717
9 NEB NM_001271208.2(NEB): c.3987+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs780022652 2:152530990-152530990 2:151674476-151674476
10 NEB NM_001271208.2(NEB): c.1849del (p.Asp617fs) deletion Pathogenic/Likely pathogenic rs755531536 2:152550884-152550884 2:151694370-151694370
11 NEB NM_001271208.2(NEB): c.24444_24447del (p.Pro8149fs) deletion Pathogenic/Likely pathogenic rs934111355 2:152353506-152353509 2:151496992-151496995
12 NEB NM_001271208.2(NEB): c.24559C> T (p.Arg8187Ter) single nucleotide variant Pathogenic/Likely pathogenic rs763364977 2:152352822-152352822 2:151496308-151496308
13 NEB NM_001271208.2(NEB): c.24218C> A (p.Ser8073Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1458048713 2:152355813-152355813 2:151499299-151499299
14 KLHL41 NM_006063.3(KLHL41): c.641del (p.Asn214fs) deletion Pathogenic/Likely pathogenic rs730882235 2:170366929-170366929 2:169510419-169510419
15 NEB NM_001271208.2(NEB): c.2784del (p.Asp929fs) deletion Pathogenic/Likely pathogenic rs786204430 2:152541343-152541343 2:151684829-151684829
16 NEB NM_001271208.2(NEB): c.21076C> T (p.Arg7026Ter) single nucleotide variant Pathogenic/Likely pathogenic rs769345284 2:152394412-152394412 2:151537898-151537898
17 NEB NM_001271208.2(NEB): c.22594C> T (p.Arg7532Ter) single nucleotide variant Likely pathogenic rs760935667 2:152376273-152376273 2:151519759-151519759
18 NEB NM_001271208.2(NEB): c.24458_24461dup (p.Met8154fs) duplication Likely pathogenic rs1257495033 2:152353491-152353491 2:151496978-151496981
19 NEB NM_001271208.2(NEB): c.21898C> T (p.Arg7300Ter) single nucleotide variant Likely pathogenic 2:152384042-152384042 2:151527528-151527528
20 NEB NM_001271208.2(NEB): c.20554G> T (p.Glu6852Ter) single nucleotide variant Likely pathogenic 2:152402425-152402425 2:151545911-151545911
21 NEB NM_001271208.2(NEB): c.734del (p.Gly245fs) deletion Likely pathogenic 2:152574018-152574018 2:151717505-151717505
22 NEB NM_001271208.2(NEB): c.3252_3255+3del deletion Likely pathogenic 2:152536232-152536238 2:151679718-151679724
23 NEB NM_001271208.2(NEB): c.19944G> A (p.Ser6648=) single nucleotide variant Conflicting interpretations of pathogenicity rs201553266 2:152408252-152408252 2:151551738-151551738
24 TPM3 NM_152263.3(TPM3): c.243+15_243+16delGA deletion Conflicting interpretations of pathogenicity rs146969764 1:154163646-154163647 1:154191170-154191171
25 TPM3 NM_153649.4(TPM3): c.664+3560C> T single nucleotide variant Uncertain significance rs886045310 1:154139316-154139316 1:154166840-154166840
26 TPM3 NM_153649.4(TPM3): c.664+3556T> C single nucleotide variant Uncertain significance rs886045311 1:154139320-154139320 1:154166844-154166844
27 TPM3 NM_153649.4(TPM3): c.664+3462G> A single nucleotide variant Uncertain significance rs565913061 1:154139414-154139414 1:154166938-154166938
28 TPM3 NM_152263.4(TPM3): c.495+7G> C single nucleotide variant Uncertain significance rs749792884 1:154145553-154145553 1:154173077-154173077
29 TPM3 NM_153649.4(TPM3): c.664+2788G> A single nucleotide variant Uncertain significance rs886045315 1:154140088-154140088 1:154167612-154167612
30 TPM3 NM_153649.4(TPM3): c.664+2746G> C single nucleotide variant Uncertain significance rs886045316 1:154140130-154140130 1:154167654-154167654
31 TPM3 NM_153649.4(TPM3): c.664+2509C> T single nucleotide variant Uncertain significance rs777118586 1:154140367-154140367 1:154167891-154167891
32 TPM3 NM_153649.4(TPM3): c.665-4461A> G single nucleotide variant Uncertain significance rs777522493 1:154134658-154134658 1:154162182-154162182
33 TPM3 NM_153649.4(TPM3): c.665-4622G> T single nucleotide variant Uncertain significance rs550606876 1:154134819-154134819 1:154162343-154162343
34 TPM3 NM_153649.4(TPM3): c.665-4641_665-4640del short repeat Uncertain significance rs886045288 1:154134837-154134838 1:154162361-154162362
35 TPM3 NM_153649.4(TPM3): c.665-4664dup duplication Uncertain significance rs58289686 1:154134841-154134841 1:154162365-154162365
36 TPM3 NM_153649.4(TPM3): c.665-4776A> C single nucleotide variant Uncertain significance rs12064494 1:154134973-154134973 1:154162497-154162497
37 TPM3 NM_153649.4(TPM3): c.665-5580G> A single nucleotide variant Uncertain significance rs886045292 1:154135777-154135777 1:154163301-154163301
38 TPM3 NM_153649.4(TPM3): c.665-5691G> T single nucleotide variant Uncertain significance rs886045295 1:154135888-154135888 1:154163412-154163412
39 TPM3 NM_153649.4(TPM3): c.665-5827G> T single nucleotide variant Uncertain significance rs886045297 1:154136024-154136024 1:154163548-154163548
40 TPM3 NM_153649.4(TPM3): c.664+6021G> A single nucleotide variant Uncertain significance rs886045302 1:154136855-154136855 1:154164379-154164379
41 TPM3 NM_153649.4(TPM3): c.664+4761T> C single nucleotide variant Uncertain significance rs201157203 1:154138115-154138115 1:154165639-154165639
42 TPM3 NM_153649.4(TPM3): c.664+4579T> C single nucleotide variant Uncertain significance rs886045307 1:154138297-154138297 1:154165821-154165821
43 TPM3 NM_153649.4(TPM3): c.664+6323C> T single nucleotide variant Uncertain significance rs763202740 1:154136553-154136553 1:154164077-154164077
44 TPM3 NM_153649.4(TPM3): c.665-5914A> G single nucleotide variant Uncertain significance rs886045298 1:154136111-154136111 1:154163635-154163635
45 TPM3 NM_153649.4(TPM3): c.665-5703G> A single nucleotide variant Uncertain significance rs886045296 1:154135900-154135900 1:154163424-154163424
46 TPM3 NM_153649.4(TPM3): c.664+4593del deletion Uncertain significance rs370257288 1:154138283-154138283 1:154165807-154165807
47 TPM3 NM_153649.4(TPM3): c.664+3421C> T single nucleotide variant Uncertain significance rs577888532 1:154139455-154139455 1:154166979-154166979
48 TPM3 NM_153649.4(TPM3): c.664+2945C> T single nucleotide variant Uncertain significance rs886045313 1:154139931-154139931 1:154167455-154167455
49 TPM3 NM_153649.4(TPM3): c.664+2524C> A single nucleotide variant Uncertain significance rs886045317 1:154140352-154140352 1:154167876-154167876
50 TPM3 NM_153649.4(TPM3): c.664+2504C> G single nucleotide variant Uncertain significance rs886045318 1:154140372-154140372 1:154167896-154167896

Expression for Nemaline Myopathy

Search GEO for disease gene expression data for Nemaline Myopathy.

Pathways for Nemaline Myopathy

Pathways related to Nemaline Myopathy according to KEGG:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Axon guidance hsa04360
3 Fc gamma R-mediated phagocytosis hsa04666
4 Regulation of actin cytoskeleton hsa04810

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

# Super pathways Score Top Affiliating Genes
1 10.88 TPM3 TPM2 TNNT1 NEB ACTA1
2 10.4 MIR148B MIR148A

GO Terms for Nemaline Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.87 TPM3 TPM2 NEB LMOD3 KLHL41 CFL2
2 M band GO:0031430 9.46 LMOD3 KLHL41
3 I band GO:0031674 9.43 KLHL40 CFL2
4 actin filament GO:0005884 9.43 TPM3 TPM2 ACTA1
5 striated muscle thin filament GO:0005865 9.4 LMOD3 ACTA1
6 A band GO:0031672 9.37 LMOD3 KLHL40
7 actin cytoskeleton GO:0015629 9.35 TPM3 TPM2 NEB CFL2 ACTA1
8 extracellular space GO:0005615 9.28 MIR155 MIR148B MIR148A MIR134 MIR132 MIR130A
9 muscle thin filament tropomyosin GO:0005862 9.16 TPM3 TPM2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.69 TPM3 TPM2 CFL2
2 muscle contraction GO:0006936 9.65 TPM3 TPM2 TNNT1 LMOD3 ACTA1
3 miRNA mediated inhibition of translation GO:0035278 9.62 MIR155 MIR148A MIR134 MIR132
4 cholesterol homeostasis GO:0042632 9.61 MIR155 MIR148A MIR132
5 gene silencing by miRNA GO:0035195 9.61 MIR155 MIR154 MIR148B MIR148A MIR146B MIR134
6 sarcomere organization GO:0045214 9.54 TNNT1 KLHL41 CFL2
7 positive regulation of vascular endothelial cell proliferation GO:1905564 9.52 MIR132 MIR130A
8 striated muscle contraction GO:0006941 9.49 LMOD3 KLHL41
9 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.48 MIR155 MIR148A
10 skeletal muscle thin filament assembly GO:0030240 9.46 LMOD3 ACTA1
11 skeletal muscle fiber development GO:0048741 9.46 LMOD3 KLHL41 KLHL40 ACTA1
12 myofibril assembly GO:0030239 9.4 LMOD3 KLHL41
13 muscle filament sliding GO:0030049 9.02 TPM3 TPM2 TNNT1 NEB ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.26 TPM3 TPM2 NEB CFL2
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIR155 MIR148B MIR148A MIR146B MIR134 MIR132
3 tropomyosin binding GO:0005523 9.16 TNNT1 LMOD3

Sources for Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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