NM
MCID: NML001
MIFTS: 49

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 74 52 25 58 36 29 6 15
Rod Myopathy 12 74 52 25
Nemaline Body Disease 12 52 25
Nemaline Rod Myopathy 12 52 58
Myopathies, Nemaline 25 43 71
Nemaline Rod Disease 52 25
Myopathy, Nemaline 25 39
Rod-Body Myopathy 52 25
Rod Body Disease 52 25
Nm 52 58
Congenital Rod Disease 52
Myopathies Nemaline 54
Nemaline Bodies 29
Nem 58

Characteristics:

Orphanet epidemiological data:

58
nemaline myopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3191
KEGG 36 H00698
MeSH 43 D017696
SNOMED-CT 67 75072002
ICD10 32 G71.2
MESH via Orphanet 44 D017696
ICD10 via Orphanet 33 G71.2
UMLS via Orphanet 72 C0206157
Orphanet 58 ORPHA607
UMLS 71 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 rod myopathy, is related to nemaline myopathy 3 and nemaline myopathy 2. 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.

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 : 52 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 : 36 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 : 74 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

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 197)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 3 35.3 NEB KLHL41 ACTA1
2 nemaline myopathy 2 35.3 NEB KLHL41 CFL2
3 nemaline myopathy 4 35.2 TPM2 KLHL41
4 severe congenital nemaline myopathy 35.0 NEB KLHL41 ACTA1
5 nemaline myopathy 10 35.0 KLHL41 CFL2
6 intermediate congenital nemaline myopathy 35.0 TPM3 NEB KLHL41 ACTA1
7 childhood-onset nemaline myopathy 35.0 TPM3 TPM2 NEB KLHL41 ACTA1
8 typical congenital nemaline myopathy 34.9 TPM2 NEB KLHL41 CFL2 ACTA1
9 myopathy, congenital 33.6 TPM3 NEB ACTA1
10 myopathy 32.6 TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
11 cap myopathy 31.7 TPM3 TPM2 ACTA1
12 dilated cardiomyopathy 31.1 TPM3 TPM2 TNNT1 MIR214 CFL2 ACTA1
13 multiple pterygium syndrome, escobar variant 31.0 TPM2 NEB KLHL41
14 congenital fiber-type disproportion 31.0 TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
15 arthrogryposis, distal, type 1a 30.5 TPM3 TPM2 ACTA1
16 central core myopathy 30.5 NEB ACTA1
17 polymyositis 30.3 MIR222 MIR214 MIR154 MIR146B MIR132 MIR130A
18 dermatomyositis 29.9 MIR369 MIR222 MIR214 MIR154 MIR148B MIR148A
19 muscular dystrophy, duchenne type 29.8 MIR376A1 MIR369 MIR222 MIR214 MIR154 MIR148A
20 nemaline myopathy 5 13.0
21 nemaline myopathy 7 12.9
22 nemaline myopathy 1 12.9
23 nemaline myopathy 8 12.9
24 nemaline myopathy 11, autosomal recessive 12.9
25 nemaline myopathy 6 12.9
26 nemaline myopathy 9 12.9
27 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.8
28 adult-onset nemaline myopathy 12.7
29 congenital nemaline myopathy 12.5
30 intranuclear rod myopathy 11.7
31 actin-accumulation myopathy 11.5
32 hypotonia 10.9
33 respiratory failure 10.8
34 atrial standstill 1 10.6
35 foot drop 10.6 NEB ACTA1
36 snail allergy 10.6 TPM3 TPM2
37 crab allergy 10.6 TPM3 TPM2
38 neuromuscular disease 10.6
39 hyaline body myopathy 10.6 TPM3 NEB ACTA1
40 alkuraya-kucinskas syndrome 10.6
41 congenital amyoplasia 10.6
42 crustacean allergy 10.6 TPM3 TPM2
43 shrimp allergy 10.6 TPM3 TPM2
44 hypertrophic cardiomyopathy 10.5
45 scoliosis 10.5
46 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.5 TPM3 TPM2 NEB CFL2 ACTA1
47 reducing body myopathy 1a 10.5 NEB CFL2
48 inclusion body myositis 10.5 MIR222 MIR214 MIR146B
49 centronuclear myopathy 10.5 TPM2 NEB ACTA1
50 dysphagia 10.5

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



Diseases related to Nemaline Myopathy

Symptoms & Phenotypes for Nemaline Myopathy

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 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
3 Inspiratory Muscle Training in Patients With Nemaline Myopathy Recruiting NCT03728803
4 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883
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:

40
Skeletal Muscle, Heart, Testes, Brain, Eye

Publications for Nemaline Myopathy

Articles related to Nemaline Myopathy:

(show top 50) (show all 756)
# Title Authors PMID Year
1
Distinctive patterns of microRNA expression in primary muscular disorders. 61 46
17942673 2007
2
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 54 61
19953533 2010
3
Nebulin alters cross-bridge cycling kinetics and increases thin filament activation: a novel mechanism for increasing tension and reducing tension cost. 61 54
19736309 2009
4
A TPM3 mutation causing cap myopathy. 61 54
19553118 2009
5
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 61 54
19562689 2009
6
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. 54 61
19346529 2009
7
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 54 61
19553116 2009
8
alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells. 61 54
19393268 2009
9
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. 61 54
19155175 2009
10
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. 54 61
18976909 2009
11
[Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected]. 61 54
19648653 2009
12
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. 54 61
19047562 2008
13
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. 54 61
18382475 2008
14
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy. 54 61
18716557 2008
15
Histopathologic progression and a novel mutation in a child with nemaline myopathy. 54 61
18487519 2008
16
Novel RYR1 missense mutation causes core rod myopathy. 61 54
18312400 2008
17
Nebulin--a giant chameleon. 54 61
19181091 2008
18
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). 61 54
18461503 2007
19
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 61 54
17705262 2007
20
Mechanisms underlying intranuclear rod formation. 54 61
17928315 2007
21
Congenital myopathies. 61 54
17885449 2007
22
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). 61 54
17846275 2007
23
Distal myopathy caused by homozygous missense mutations in the nebulin gene. 54 61
17525139 2007
24
The pathogenesis of ACTA1-related congenital fiber type disproportion. 61 54
17387733 2007
25
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. 54 61
17187373 2007
26
Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci. 54 61
17157023 2007
27
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. 61 54
16945537 2006
28
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). 61 54
16945536 2006
29
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. 61 54
16427282 2006
30
Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. 54 61
16288873 2005
31
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. 61 54
15665378 2005
32
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. 61 54
15562513 2005
33
Magnetic resonance imaging of muscle in nemaline myopathy. 54 61
15564032 2004
34
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease. 61 54
15336973 2004
35
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). 61 54
15221331 2004
36
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 54 61
15336686 2004
37
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). 61 54
15336687 2004
38
Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. 61 54
15266303 2004
39
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. 54 61
15198992 2004
40
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 54 61
15236405 2004
41
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 54 61
14733965 2004
42
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 61 54
12921789 2003
43
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 54 61
12899871 2003
44
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 61 54
12805120 2003
45
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. 54 61
12732643 2003
46
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. 61 54
12565913 2003
47
Clinical course correlates poorly with muscle pathology in nemaline myopathy. 61 54
12601110 2003
48
Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths. 61 54
12467751 2002
49
Nebulin mutations in autosomal recessive nemaline myopathy: an update. 61 54
12207938 2002
50
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 61 54
12207937 2002

Variations for Nemaline Myopathy

ClinVar genetic disease variations for Nemaline Myopathy:

6 (show top 50) (show all 54) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEB NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter)SNV Pathogenic 496131 rs928945364 2:152473895-152473895 2:151617381-151617381
2 NEB NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile)SNV Pathogenic 496132 rs191579691 2:152417726-152417726 2:151561212-151561212
3 NEB NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter)SNV Pathogenic 633334 rs760200697 2:152348211-152348211 2:151491697-151491697
4 NEB NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs)deletion Pathogenic 265493 rs555445835 2:152350726-152350727 2:151494212-151494213
5 NEB NM_001271208.2(NEB):c.78+1G>ASNV Pathogenic 552018 rs778593702 2:152586128-152586128 2:151729614-151729614
6 NEB NM_001271208.2(NEB):c.3987+1G>ASNV Pathogenic/Likely pathogenic 371210 rs780022652 2:152530990-152530990 2:151674476-151674476
7 NEB NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)SNV Pathogenic/Likely pathogenic 578209 rs748922882 2:152381779-152381779 2:151525265-151525265
8 NEB NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs)duplication Pathogenic/Likely pathogenic 633333 rs1344099907 2:152353542-152353543 2:151497028-151497029
9 KLHL41 NM_006063.3(KLHL41):c.641del (p.Asn214fs)deletion Pathogenic/Likely pathogenic 183243 rs730882235 2:170366925-170366925 2:169510415-169510415
10 NEB NM_001271208.2(NEB):c.2784del (p.Asp929fs)deletion Pathogenic/Likely pathogenic 188731 rs786204430 2:152541343-152541343 2:151684829-151684829
11 NEB NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter)SNV Pathogenic/Likely pathogenic 190457 rs769345284 2:152394412-152394412 2:151537898-151537898
12 NEB NM_001271208.2(NEB):c.1849del (p.Asp617fs)deletion Pathogenic/Likely pathogenic 520693 rs755531536 2:152550884-152550884 2:151694370-151694370
13 NEB NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs)deletion Pathogenic/Likely pathogenic 533968 rs934111355 2:152353506-152353509 2:151496992-151496995
14 NEB NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter)SNV Pathogenic/Likely pathogenic 496135 rs763364977 2:152352822-152352822 2:151496308-151496308
15 NEB NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs)duplication Pathogenic/Likely pathogenic 465579 rs781667543 2:152354227-152354228 2:151497713-151497714
16 NEB NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter)SNV Likely pathogenic 496134 rs1458048713 2:152355813-152355813 2:151499299-151499299
17 NEB NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs)duplication Likely pathogenic 551882 rs1257495033 2:152353491-152353492 2:151496977-151496978
18 NEB NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter)SNV Likely pathogenic 556650 rs760935667 2:152376273-152376273 2:151519759-151519759
19 NEB NM_001271208.2(NEB):c.21898C>T (p.Arg7300Ter)SNV Likely pathogenic 632921 rs750900690 2:152384042-152384042 2:151527528-151527528
20 NEB NM_001271208.2(NEB):c.20554G>T (p.Glu6852Ter)SNV Likely pathogenic 632920 rs777819332 2:152402425-152402425 2:151545911-151545911
21 NEB NM_001271208.2(NEB):c.734del (p.Gly245fs)deletion Likely pathogenic 632924 rs1559573882 2:152574018-152574018 2:151717504-151717504
22 NEB NM_001271208.2(NEB):c.3252_3255+3deldeletion Likely pathogenic 632922 rs1559168230 2:152536232-152536238 2:151679718-151679724
23 NEB NM_001271208.2(NEB):c.19944G>A (p.Ser6648=)SNV Conflicting interpretations of pathogenicity 235402 rs201553266 2:152408252-152408252 2:151551738-151551738
24 TPM3 NM_152263.4(TPM3):c.243+11GA[2]short repeat Conflicting interpretations of pathogenicity 262623 rs146969764 1:154163646-154163647 1:154191170-154191171
25 TPM3 NM_152263.4(TPM3):c.*2130deldeletion Uncertain significance 292669 rs370257288 1:154138283-154138283 1:154165807-154165807
26 TPM3 NM_152263.4(TPM3):c.*5577C>TSNV Uncertain significance 292630 rs886045287 1:154134836-154134836 1:154162360-154162360
27 TPM3 NM_152263.4(TPM3):c.*5573_*5574GA[1]short repeat Uncertain significance 292631 rs886045288 1:154134837-154134838 1:154162361-154162362
28 TPM3 NM_152263.4(TPM3):c.*5572dupduplication Uncertain significance 292632 rs58289686 1:154134840-154134841 1:154162364-154162365
29 TPM3 NM_152263.4(TPM3):c.*5028_*5029dupduplication Uncertain significance 292635 rs886045291 1:154135383-154135384 1:154162907-154162908
30 TPM3 NM_152263.4(TPM3):c.*4574_*4578deldeletion Uncertain significance 292639 rs886045293 1:154135835-154135839 1:154163359-154163363
31 TPM3 NM_152263.4(TPM3):c.*5549_*5550GT[1]short repeat Uncertain significance 292633 rs886045290 1:154134861-154134862 1:154162385-154162386
32 TPM3 NM_152263.4(TPM3):c.*4203G>ASNV Uncertain significance 292646 rs886045299 1:154136210-154136210 1:154163734-154163734
33 TPM3 NM_152263.4(TPM3):c.*3756dupduplication Uncertain significance 292651 rs574252210 1:154136656-154136657 1:154164180-154164181
34 ACTA1 NM_001100.3(ACTA1):c.809-16_809-15insGinsertion Uncertain significance 296055 rs746125735 1:229567664-229567665 1:229431917-229431918
35 ACTA1 NM_001100.3(ACTA1):c.809-13_809-12dupduplication Uncertain significance 296053 rs201427429 1:229567660-229567661 1:229431913-229431914
36 ACTA1 NM_001100.3(ACTA1):c.-66_-65delinsTCindel Uncertain significance 296061 rs386640096 1:229569803-229569804 1:229434056-229434057
37 ACTA1 NM_001100.3(ACTA1):c.809-14_809-13insAinsertion Uncertain significance 296054 rs749384329 1:229567662-229567663 1:229431915-229431916
38 TPM3 NM_152263.4(TPM3):c.*4333A>GSNV Likely benign 292644 rs34629044 1:154136080-154136080 1:154163604-154163604
39 TPM3 NM_152263.4(TPM3):c.*389G>ASNV Likely benign 292689 rs74731791 1:154140024-154140024 1:154167548-154167548
40 TPM3 NM_152263.4(TPM3):c.*3248G>ASNV Likely benign 292654 rs12026177 1:154137165-154137165 1:154164689-154164689
41 TPM3 NM_152263.4(TPM3):c.*1246_*1247dupduplication Likely benign 292678 rs72189266 1:154139165-154139166 1:154166689-154166690
42 TPM3 NM_152263.4(TPM3):c.*2147deldeletion Likely benign 292667 rs68185418 1:154138266-154138266 1:154165790-154165790
43 ACTA1 NM_001100.4(ACTA1):c.809-13dupduplication Benign/Likely benign 93551 rs201427429 1:229567660-229567661 1:229431913-229431914
44 TPM3 NM_152263.4(TPM3):c.*1032T>GSNV Benign 292682 rs6673171 1:154139381-154139381 1:154166905-154166905
45 TPM3 NM_152263.4(TPM3):c.*4968A>GSNV Benign 292636 rs4446955 1:154135445-154135445 1:154162969-154162969
46 TPM3 NM_152263.4(TPM3):c.*3822G>TSNV Benign 292649 rs12063890 1:154136591-154136591 1:154164115-154164115
47 TPM3 NM_152263.4(TPM3):c.*2719G>ASNV Benign 292657 rs11265201 1:154137694-154137694 1:154165218-154165218
48 TPM3 NM_152263.4(TPM3):c.*2565G>ASNV Benign 292660 rs6661996 1:154137848-154137848 1:154165372-154165372
49 TPM3 NM_152263.4(TPM3):c.*5856T>GSNV Benign 292625 rs3196889 1:154134557-154134557 1:154162081-154162081
50 TPM3 NM_152263.4(TPM3):c.*1247dupduplication Benign 292677 rs72189266 1:154139165-154139166 1:154166689-154166690

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:

36
# 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 11.31 MIR134 MIR132 MIR127
2 10.88 TPM3 TPM2 TNNT1 NEB ACTA1
3 10.6 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 extracellular vesicle GO:1903561 9.56 MIR222 MIR214 MIR148A MIR130A
2 actin filament GO:0005884 9.5 TPM3 TPM2 ACTA1
3 actin cytoskeleton GO:0015629 9.35 TPM3 TPM2 NEB CFL2 ACTA1
4 extracellular space GO:0005615 9.32 MIR222 MIR148B MIR148A MIR146B MIR134 MIR132
5 muscle thin filament tropomyosin GO:0005862 9.16 TPM3 TPM2

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

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.61 TPM3 TPM2 CFL2
2 muscle contraction GO:0006936 9.56 TPM3 TPM2 TNNT1 ACTA1
3 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.54 MIR222 MIR214 MIR130A
4 sarcomere organization GO:0045214 9.5 TNNT1 KLHL41 CFL2
5 skeletal muscle fiber development GO:0048741 9.46 KLHL41 ACTA1
6 miRNA mediated inhibition of translation GO:0035278 9.46 MIR222 MIR148A MIR134 MIR132
7 positive regulation of vascular endothelial cell proliferation GO:1905564 9.4 MIR132 MIR130A
8 gene silencing by miRNA GO:0035195 9.36 MIR369 MIR222 MIR214 MIR154 MIR148B MIR148A
9 muscle filament sliding GO:0030049 9.35 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 binding GO:0003779 9.46 TPM3 TPM2 NEB CFL2
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.28 MIR222 MIR214 MIR154 MIR148B MIR148A MIR146B
3 actin filament binding GO:0051015 9.26 TPM3 TPM2 NEB CFL2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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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