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 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 severe congenital nemaline myopathy 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 bone.

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 205)
# Related Disease Score Top Affiliating Genes
1 severe congenital nemaline myopathy 35.0 NEB KLHL41 ACTA1
2 intermediate congenital nemaline myopathy 34.9 TPM3 NEB KLHL41 ACTA1
3 childhood-onset nemaline myopathy 34.9 TPM3 TPM2 NEB KLHL41 ACTA1
4 typical congenital nemaline myopathy 34.8 TPM2 NEB KLHL41 CFL2 ACTA1
5 myopathy, congenital 33.6 TPM3 TPM2 NEB ACTA1
6 myopathy 32.5 TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
7 cap myopathy 31.7 TPM3 TPM2 ACTA1
8 distal arthrogryposis 31.1 TPM3 TPM2 TNNT1 NEB CFL2 ACTA1
9 dilated cardiomyopathy 31.1 TPM3 TPM2 TNNT1 MIR214 CFL2 ACTA1
10 multiple pterygium syndrome, escobar variant 31.0 TPM2 NEB KLHL41
11 muscular disease 31.0 TPM3 TPM2 TNNT1 NEB CFL2 ACTA1
12 congenital fiber-type disproportion 31.0 TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
13 central core myopathy 30.7 NEB ACTA1
14 arthrogryposis, distal, type 1a 30.2 TPM2 ACTA1
15 polymyositis 30.1 MIR222 MIR214 MIR155 MIR154 MIR146B MIR132
16 dermatomyositis 29.8 MIR222 MIR214 MIR155 MIR154 MIR148B MIR148A
17 muscular dystrophy, duchenne type 29.6 MIR222 MIR214 MIR181D MIR155 MIR154 MIR148A
18 nemaline myopathy 5 13.0
19 nemaline myopathy 3 13.0
20 nemaline myopathy 2 13.0
21 nemaline myopathy 7 12.9
22 nemaline myopathy 1 12.9
23 nemaline myopathy 4 12.9
24 nemaline myopathy 8 12.9
25 nemaline myopathy 11, autosomal recessive 12.9
26 nemaline myopathy 6 12.9
27 nemaline myopathy 10 12.9
28 nemaline myopathy 9 12.9
29 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.8
30 adult-onset nemaline myopathy 12.7
31 obsolete: acquired rod-body myopathy 12.5
32 congenital nemaline myopathy 12.5
33 intranuclear rod myopathy 11.7
34 actin-accumulation myopathy 11.5
35 hypotonia 10.9
36 respiratory failure 10.8
37 atrial standstill 1 10.6
38 foot drop 10.6 NEB ACTA1
39 snail allergy 10.6 TPM3 TPM2
40 neuromuscular disease 10.6
41 shrimp allergy 10.6 TPM3 TPM2
42 crustacean allergy 10.6 TPM3 TPM2
43 alkuraya-kucinskas syndrome 10.6
44 congenital amyoplasia 10.6
45 fish allergy 10.6 TPM3 TPM2
46 hypertrophic cardiomyopathy 10.5
47 melon allergy 10.5 TPM3 TPM2
48 scoliosis 10.5
49 centronuclear myopathy 10.5 TPM2 NEB ACTA1
50 thyroid gland papillary carcinoma 10.5 MIR222 MIR146B MIR127

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, Bone, Kidney, Thyroid, Testes, Brain

Publications for Nemaline Myopathy

Articles related to Nemaline Myopathy:

(show top 50) (show all 745)
# 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. 54 61
19736309 2009
4
A TPM3 mutation causing cap myopathy. 54 61
19553118 2009
5
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 54 61
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. 54 61
19393268 2009
9
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. 54 61
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]. 54 61
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. 54 61
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). 54 61
18461503 2007
19
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 54 61
17705262 2007
20
Mechanisms underlying intranuclear rod formation. 54 61
17928315 2007
21
Congenital myopathies. 54 61
17885449 2007
22
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). 54 61
17846275 2007
23
The pathogenesis of ACTA1-related congenital fiber type disproportion. 54 61
17387733 2007
24
Distal myopathy caused by homozygous missense mutations in the nebulin gene. 54 61
17525139 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. 54 61
16945537 2006
28
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). 54 61
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. 54 61
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. 54 61
15665378 2005
32
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. 54 61
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. 54 61
15336973 2004
35
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). 54 61
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). 54 61
15336687 2004
38
Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. 54 61
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). 54 61
12921789 2003
43
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 54 61
12899871 2003
44
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy. 54 61
12732643 2003
45
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 54 61
12805120 2003
46
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. 54 61
12565913 2003
47
Clinical course correlates poorly with muscle pathology in nemaline myopathy. 54 61
12601110 2003
48
Skeletal muscle of mice with a mutation in slow alpha-tropomyosin is weaker at lower lengths. 54 61
12467751 2002
49
Nebulin mutations in autosomal recessive nemaline myopathy: an update. 54 61
12207938 2002
50
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. 54 61
12207937 2002

Variations for Nemaline Myopathy

ClinVar genetic disease variations for Nemaline Myopathy:

6 (show top 50) (show all 117) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEB NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs)deletion Pathogenic 265493 rs555445835 2:152350726-152350727 2:151494212-151494213
2 NEB NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter)SNV Pathogenic 496131 rs928945364 2:152473895-152473895 2:151617381-151617381
3 NEB NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile)SNV Pathogenic 496132 rs191579691 2:152417726-152417726 2:151561212-151561212
4 NEB NM_001271208.2(NEB):c.25241T>G (p.Leu8414Ter)SNV Pathogenic 633334 rs760200697 2:152348211-152348211 2:151491697-151491697
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.22275C>G (p.Tyr7425Ter)SNV Pathogenic/Likely pathogenic 578209 rs748922882 2:152381779-152381779 2:151525265-151525265
7 NEB NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs)duplication Pathogenic/Likely pathogenic 465579 rs781667543 2:152354227-152354228 2:151497713-151497714
8 NEB NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs)duplication Pathogenic/Likely pathogenic 633333 rs1344099907 2:152353542-152353543 2:151497028-151497029
9 NEB NM_001271208.2(NEB):c.1849del (p.Asp617fs)deletion Pathogenic/Likely pathogenic 520693 rs755531536 2:152550884-152550884 2:151694370-151694370
10 NEB NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs)deletion Pathogenic/Likely pathogenic 533968 rs934111355 2:152353506-152353509 2:151496992-151496995
11 NEB NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter)SNV Pathogenic/Likely pathogenic 496135 rs763364977 2:152352822-152352822 2:151496308-151496308
12 NEB NM_001271208.2(NEB):c.3987+1G>ASNV Pathogenic/Likely pathogenic 371210 rs780022652 2:152530990-152530990 2:151674476-151674476
13 KLHL41 NM_006063.3(KLHL41):c.641del (p.Asn214fs)deletion Pathogenic/Likely pathogenic 183243 rs730882235 2:170366925-170366925 2:169510415-169510415
14 NEB NM_001271208.2(NEB):c.2784del (p.Asp929fs)deletion Pathogenic/Likely pathogenic 188731 rs786204430 2:152541343-152541343 2:151684829-151684829
15 NEB NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter)SNV Pathogenic/Likely pathogenic 190457 rs769345284 2:152394412-152394412 2:151537898-151537898
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 ACTA1 NM_001100.3(ACTA1):c.549G>A (p.Ala183=)SNV Conflicting interpretations of pathogenicity 296056 rs200094415 1:229568084-229568084 1:229432337-229432337
24 NEB NM_001271208.2(NEB):c.19944G>A (p.Ser6648=)SNV Conflicting interpretations of pathogenicity 235402 rs201553266 2:152408252-152408252 2:151551738-151551738
25 TPM3 NM_152263.4(TPM3):c.243+11GA[2]short repeat Conflicting interpretations of pathogenicity 262623 rs146969764 1:154163646-154163647 1:154191170-154191171
26 TPM3 NM_152263.4(TPM3):c.327T>G (p.Thr109=)SNV Conflicting interpretations of pathogenicity 292698 rs764255899 1:154148641-154148641 1:154176165-154176165
27 TPM3 NM_152263.4(TPM3):c.*5926T>CSNV Uncertain significance 292624 rs886045285 1:154134487-154134487 1:154162011-154162011
28 TPM3 NM_152263.4(TPM3):c.*5549_*5550GT[1]short repeat Uncertain significance 292633 rs886045290 1:154134861-154134862 1:154162385-154162386
29 TPM3 NM_152263.4(TPM3):c.*4940C>GSNV Uncertain significance 292637 rs562373211 1:154135473-154135473 1:154162997-154162997
30 TPM3 NM_152263.4(TPM3):c.*4541T>ASNV Uncertain significance 292640 rs886045294 1:154135872-154135872 1:154163396-154163396
31 TPM3 NM_152263.4(TPM3):c.*4203G>ASNV Uncertain significance 292646 rs886045299 1:154136210-154136210 1:154163734-154163734
32 TPM3 NM_152263.4(TPM3):c.*4194G>ASNV Uncertain significance 292647 rs886045300 1:154136219-154136219 1:154163743-154163743
33 TPM3 NM_152263.4(TPM3):c.*3756C>ASNV Uncertain significance 292652 rs555633635 1:154136657-154136657 1:154164181-154164181
34 TPM3 NM_152263.4(TPM3):c.*3756dupduplication Uncertain significance 292651 rs574252210 1:154136656-154136657 1:154164180-154164181
35 TPM3 NM_152263.4(TPM3):c.*2774G>CSNV Uncertain significance 292656 rs886045303 1:154137639-154137639 1:154165163-154165163
36 TPM3 NM_152263.4(TPM3):c.*2240C>TSNV Uncertain significance 292663 rs561949016 1:154138173-154138173 1:154165697-154165697
37 TPM3 NM_152263.4(TPM3):c.*2220T>CSNV Uncertain significance 292664 rs886045306 1:154138193-154138193 1:154165717-154165717
38 TPM3 NM_152263.4(TPM3):c.*1291A>GSNV Uncertain significance 292676 rs375670563 1:154139122-154139122 1:154166646-154166646
39 TPM3 NM_152263.4(TPM3):c.*1152C>TSNV Uncertain significance 292679 rs535068015 1:154139261-154139261 1:154166785-154166785
40 TPM3 NM_152263.4(TPM3):c.*2138T>CSNV Uncertain significance 292668 rs566002553 1:154138275-154138275 1:154165799-154165799
41 TPM3 NM_152263.4(TPM3):c.*1097C>TSNV Uncertain significance 292680 rs886045310 1:154139316-154139316 1:154166840-154166840
42 TPM3 NM_152263.4(TPM3):c.*1093T>CSNV Uncertain significance 292681 rs886045311 1:154139320-154139320 1:154166844-154166844
43 TPM3 NM_152263.4(TPM3):c.*999G>ASNV Uncertain significance 292683 rs565913061 1:154139414-154139414 1:154166938-154166938
44 TPM3 NM_152263.4(TPM3):c.495+7G>CSNV Uncertain significance 292696 rs749792884 1:154145553-154145553 1:154173077-154173077
45 TPM3 NM_152263.4(TPM3):c.*5701C>TSNV Uncertain significance 292627 rs373631033 1:154134712-154134712 1:154162236-154162236
46 TPM3 NM_152263.4(TPM3):c.*5583C>TSNV Uncertain significance 292629 rs886045286 1:154134830-154134830 1:154162354-154162354
47 TPM3 NM_152263.4(TPM3):c.*5028_*5029dupduplication Uncertain significance 292635 rs886045291 1:154135383-154135384 1:154162907-154162908
48 TPM3 NM_152263.4(TPM3):c.*4574_*4578deldeletion Uncertain significance 292639 rs886045293 1:154135835-154135839 1:154163359-154163363
49 TPM3 NM_152263.4(TPM3):c.*3807G>TSNV Uncertain significance 292650 rs886045301 1:154136606-154136606 1:154164130-154164130
50 TPM3 NM_152263.4(TPM3):c.*2675T>CSNV Uncertain significance 292658 rs886045304 1:154137738-154137738 1:154165262-154165262

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 11.95 MIR222 MIR214 MIR181D MIR155
2 10.88 TPM3 TPM2 TNNT1 NEB ACTA1
3 10.71 MIR222 MIR181D MIR146B
4 10.7 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 actin filament GO:0005884 9.43 TPM3 TPM2 ACTA1
2 extracellular space GO:0005615 9.36 MIR222 MIR181D MIR155 MIR148B MIR148A MIR134
3 actin cytoskeleton GO:0015629 9.35 TPM3 TPM2 NEB CFL2 ACTA1
4 muscle thin filament tropomyosin GO:0005862 9.16 TPM3 TPM2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.72 TPM3 TPM2 CFL2
2 cholesterol homeostasis GO:0042632 9.7 MIR155 MIR148A MIR132
3 miRNA mediated inhibition of translation GO:0035278 9.63 MIR222 MIR181D MIR155 MIR148A MIR134 MIR132
4 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.6 MIR222 MIR155
5 skeletal muscle fiber development GO:0048741 9.59 KLHL41 ACTA1
6 positive regulation of vascular endothelial cell proliferation GO:1905564 9.58 MIR132 MIR130A
7 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.58 MIR222 MIR155
8 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.58 MIR222 MIR214 MIR130A
9 muscle cell cellular homeostasis GO:0046716 9.57 MIR155 CFL2
10 negative regulation of necroptotic process GO:0060546 9.56 MIR214 MIR155
11 muscle contraction GO:0006936 9.56 TPM3 TPM2 TNNT1 ACTA1
12 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.54 MIR155 MIR148A
13 positive regulation of connective tissue replacement GO:1905205 9.51 MIR214 MIR155
14 sarcomere organization GO:0045214 9.5 TNNT1 KLHL41 CFL2
15 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.49 MIR214 MIR155
16 negative regulation by host of viral genome replication GO:0044828 9.48 MIR222 MIR155
17 negative regulation of interleukin-8 production GO:0032717 9.46 MIR155 MIR132
18 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.43 MIR222 MIR155
19 negative regulation of cell adhesion molecule production GO:0060354 9.37 MIR222 MIR155
20 muscle filament sliding GO:0030049 9.35 TPM3 TPM2 TNNT1 NEB ACTA1
21 gene silencing by miRNA GO:0035195 9.32 MIR222 MIR214 MIR181D MIR155 MIR154 MIR148B

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.36 MIR222 MIR214 MIR181D MIR155 MIR154 MIR148B
2 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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