Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: NML001
MIFTS: 47

Nemaline Myopathy

Categories: Rare diseases, Muscle diseases, Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Nemaline Myopathy

About this section

MalaCards integrated aliases for Nemaline Myopathy:

Name: Nemaline Myopathy 12 76 24 53 25 37 29 13 6 15
Rod Myopathy 12 76 53 25
Nemaline Body Disease 12 53 25
Nemaline Rod Myopathy 12 24 53
Myopathies, Nemaline 25 44 73
Nemaline Rod Disease 53 25
Myopathy, Nemaline 25 40
Rod-Body Myopathy 53 25
Rod Body Disease 53 25
Congenital Rod Disease 53
Myopathies Nemaline 55
Nemaline Bodies 29
Nm 53

Characteristics:

GeneReviews:

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

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Muscle diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:3191
ICD10 33 G71.2
MeSH 44 D017696
SNOMED-CT 68 75072002
KEGG 37 H00698
UMLS 73 C0206157
Sources

Summaries for Nemaline Myopathy

About this section
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.

MalaCards based summary : Nemaline Myopathy, also known as rod myopathy, is related to intermediate congenital nemaline myopathy and myopathy, congenital. 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.

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.

Wikipedia : 76 Nemaline Myopathy Welcome... more...

GeneReviews: NBK1288
Sources

Related Diseases for Nemaline Myopathy

About this section

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

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 intermediate congenital nemaline myopathy 32.6 ACTA1 KLHL41 NEB TPM3
2 myopathy, congenital 32.1 ACTA1 NEB TPM3
3 childhood-onset nemaline myopathy 31.7 ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
4 severe congenital nemaline myopathy 31.6 ACTA1 KLHL40 KLHL41 LMOD3 NEB
5 typical congenital nemaline myopathy 31.0 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
6 myopathy 26.5 ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
7 nemaline myopathy 5 12.7
8 nemaline myopathy 3 12.6
9 nemaline myopathy 2 12.6
10 nemaline myopathy 7 12.5
11 nemaline myopathy 1 12.5
12 nemaline myopathy 4 12.5
13 nemaline myopathy 8 12.5
14 nemaline myopathy 11, autosomal recessive 12.5
15 adult-onset nemaline myopathy 12.4
16 nemaline myopathy 6 12.4
17 nemaline myopathy 9 12.4
18 nemaline myopathy 10 12.4
19 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.4
20 actin-accumulation myopathy 11.5
21 intranuclear rod myopathy 11.3
22 polyglucosan body myopathy 1 with or without immunodeficiency 10.3
23 respiratory failure 10.3
24 hypertrophic cardiomyopathy 10.3
25 foot drop 10.3 ACTA1 NEB
26 dilated cardiomyopathy 10.2
27 myopathy, congenital, with fiber-type disproportion 10.1 ACTA1 TPM3
28 hypothyroidism 10.1
29 hypotonia 10.1
30 systemic lupus erythematosus 10.0
31 monoclonal gammopathy of uncertain significance 10.0
32 lupus erythematosus 10.0
33 cap myopathy 9.9 ACTA1 TPM2 TPM3
34 amyotrophic lateral sclerosis 1 9.9
35 gastroesophageal reflux 9.9
36 cardiac conduction defect 9.9
37 central core disease of muscle 9.9
38 diaphragmatic hernia, congenital 9.9
39 neuropathy, hereditary sensory and autonomic, type iii 9.9
40 spinal muscular atrophy, type i 9.9
41 myasthenia gravis 9.9
42 myeloma, multiple 9.9
43 rigid spine muscular dystrophy 1 9.9
44 muscle disorders 9.9
45 temporomandibular ankylosis 9.9
46 distal arthrogryposis 9.9
47 cardiac arrest 9.9
48 distal muscular dystrophy 9.9
49 chronic progressive external ophthalmoplegia 9.9
50 pneumothorax 9.9

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



Diseases related to Nemaline Myopathy
Sources

Symptoms & Phenotypes for Nemaline Myopathy

About this section

MGI Mouse Phenotypes related to Nemaline Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 TPM3 ACTA1 CFL2 KLHL40 KLHL41 LMOD3
Sources

Drugs & Therapeutics for Nemaline Myopathy

About this section

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 tyrosine Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of TNNT1-Myopathy With L-Tyrosine. Unknown status NCT02035501 Phase 2 L-Tyrosine;Placebo
2 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
3 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
4 Muscle Relaxation in Myopathies With Positive Muscle Phenomena Enrolling by invitation NCT03211923

Search NIH Clinical Center for Nemaline Myopathy

Cochrane evidence based reviews: myopathies, nemaline

Sources

Genetic Tests for Nemaline Myopathy

About this section

Genetic tests related to Nemaline Myopathy:

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

Anatomical Context for Nemaline Myopathy

About this section

MalaCards organs/tissues related to Nemaline Myopathy:

41
Skeletal Muscle, Heart, Testes
Sources

Publications for Nemaline Myopathy

About this section

Articles related to Nemaline Myopathy:

(show top 50) (show all 354)
# Title Authors Year
1
Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy. ( 29367711 )
2018
2
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy. ( 29848386 )
2018
3
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
4
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. ( 29293963 )
2018
5
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. ( 29356967 )
2018
6
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen. ( 29910095 )
2018
7
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
8
TNNT1 nemaline myopathy: Natural history and therapeutic frontier. ( 29931346 )
2018
9
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. ( 29331079 )
2018
10
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. ( 29246625 )
2017
11
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. ( 27890461 )
2017
12
Sarcomere Dysfunction in Nemaline Myopathy. ( 28436394 )
2017
13
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions. ( 28516742 )
2017
14
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. ( 28490364 )
2017
15
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy. ( 28606401 )
2017
16
Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy. ( 28977494 )
2017
17
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28468212 )
2017
18
Clinical and HistologicA Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. ( 28780987 )
2017
19
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. ( 29433794 )
2017
20
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance. ( 28678037 )
2017
21
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. ( 28131200 )
2017
22
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28134641 )
2017
23
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ( 28017374 )
2017
24
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. ( 29178646 )
2017
25
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. ( 27242277 )
2016
26
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. ( 27215641 )
2016
27
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ( 26825889 )
2016
28
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). ( 27528495 )
2016
29
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. ( 27105866 )
2016
30
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. ( 26891371 )
2016
31
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
32
The de novo missense mutation N117S in skeletal muscle I+a89actinA 1 causes a mild form of congenital nemaline myopathy. ( 27357517 )
2016
33
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. ( 27102768 )
2016
34
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. ( 27580764 )
2016
35
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. ( 27818064 )
2016
36
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. ( 27644222 )
2016
37
Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. ( 27429059 )
2016
38
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. ( 26754003 )
2016
39
LMOD3: the "missing link" in nemaline myopathy? ( 26337340 )
2015
40
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. ( 26197980 )
2015
41
Two novel nebulin variants in an adult patient with congenital nemaline myopathy. ( 25740301 )
2015
42
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. ( 25949787 )
2015
43
Nemaline myopathy and heart failure: role of ivabradine; a case report. ( 25597856 )
2015
44
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy. ( 27858751 )
2015
45
Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. ( 26348902 )
2015
46
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. ( 26123491 )
2015
47
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. ( 25430424 )
2015
48
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. ( 25721947 )
2015
49
Clinical utility gene card for: Nemaline myopathy. ( 25712079 )
2015
50
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. ( 25654555 )
2015
Sources

Variations for Nemaline Myopathy

About this section

ClinVar genetic disease variations for Nemaline Myopathy:

6
(show top 50) (show all 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 KLHL41 NM_006063.2(KLHL41): c.641delA (p.Asn214Thrfs) deletion Pathogenic/Likely pathogenic rs730882235 GRCh37 Chromosome 2, 170366929: 170366929
2 KLHL41 NM_006063.2(KLHL41): c.641delA (p.Asn214Thrfs) deletion Pathogenic/Likely pathogenic rs730882235 GRCh38 Chromosome 2, 169510419: 169510419
3 NEB NM_004543.4(NEB): c.2784delT (p.Asp929Ilefs) deletion Pathogenic/Likely pathogenic rs786204430 GRCh37 Chromosome 2, 152541343: 152541343
4 NEB NM_004543.4(NEB): c.2784delT (p.Asp929Ilefs) deletion Pathogenic/Likely pathogenic rs786204430 GRCh38 Chromosome 2, 151684829: 151684829
5 TPM3 NM_152263.3(TPM3): c.243+15_243+16delGA deletion Conflicting interpretations of pathogenicity rs146969764 GRCh38 Chromosome 1, 154191170: 154191171
6 TPM3 NM_152263.3(TPM3): c.243+15_243+16delGA deletion Conflicting interpretations of pathogenicity rs146969764 GRCh37 Chromosome 1, 154163646: 154163647
7 ACTA1 NM_001100.3(ACTA1): c.453C> A (p.Thr151=) single nucleotide variant Benign/Likely benign rs76030344 GRCh37 Chromosome 1, 229568304: 229568304
8 ACTA1 NM_001100.3(ACTA1): c.453C> A (p.Thr151=) single nucleotide variant Benign/Likely benign rs76030344 GRCh38 Chromosome 1, 229432557: 229432557
9 NEB NM_001271208.1(NEB): c.24632_24633delCT (p.Pro8211Argfs) deletion Pathogenic rs555445835 GRCh37 Chromosome 2, 152350726: 152350727
10 NEB NM_001271208.1(NEB): c.24632_24633delCT (p.Pro8211Argfs) deletion Pathogenic rs555445835 GRCh38 Chromosome 2, 151494212: 151494213
11 TPM3 NM_152263.3(TPM3): c.*5577C> T single nucleotide variant Uncertain significance rs886045287 GRCh37 Chromosome 1, 154134836: 154134836
12 TPM3 NM_152263.3(TPM3): c.*5577C> T single nucleotide variant Uncertain significance rs886045287 GRCh38 Chromosome 1, 154162360: 154162360
13 TPM3 NM_152263.3(TPM3): c.*4968A> G single nucleotide variant Benign rs4446955 GRCh37 Chromosome 1, 154135445: 154135445
14 TPM3 NM_152263.3(TPM3): c.*4968A> G single nucleotide variant Benign rs4446955 GRCh38 Chromosome 1, 154162969: 154162969
15 TPM3 NM_152263.3(TPM3): c.*4513G> A single nucleotide variant Uncertain significance rs886045296 GRCh37 Chromosome 1, 154135900: 154135900
16 TPM3 NM_152263.3(TPM3): c.*4513G> A single nucleotide variant Uncertain significance rs886045296 GRCh38 Chromosome 1, 154163424: 154163424
17 TPM3 NM_152263.3(TPM3): c.*4302A> G single nucleotide variant Uncertain significance rs886045298 GRCh38 Chromosome 1, 154163635: 154163635
18 TPM3 NM_152263.3(TPM3): c.*4302A> G single nucleotide variant Uncertain significance rs886045298 GRCh37 Chromosome 1, 154136111: 154136111
19 TPM3 NM_152263.3(TPM3): c.*3860C> T single nucleotide variant Uncertain significance rs763202740 GRCh38 Chromosome 1, 154164077: 154164077
20 TPM3 NM_152263.3(TPM3): c.*3860C> T single nucleotide variant Uncertain significance rs763202740 GRCh37 Chromosome 1, 154136553: 154136553
21 TPM3 NM_152263.3(TPM3): c.*3822G> T single nucleotide variant Benign rs12063890 GRCh38 Chromosome 1, 154164115: 154164115
22 TPM3 NM_152263.3(TPM3): c.*3822G> T single nucleotide variant Benign rs12063890 GRCh37 Chromosome 1, 154136591: 154136591
23 TPM3 NM_152263.3(TPM3): c.*2719G> A single nucleotide variant Benign rs11265201 GRCh38 Chromosome 1, 154165218: 154165218
24 TPM3 NM_152263.3(TPM3): c.*2719G> A single nucleotide variant Benign rs11265201 GRCh37 Chromosome 1, 154137694: 154137694
25 TPM3 NM_152263.3(TPM3): c.*2565G> A single nucleotide variant Benign rs6661996 GRCh38 Chromosome 1, 154165372: 154165372
26 TPM3 NM_152263.3(TPM3): c.*2565G> A single nucleotide variant Benign rs6661996 GRCh37 Chromosome 1, 154137848: 154137848
27 TPM3 NM_152263.3(TPM3): c.*2409G> C single nucleotide variant Likely benign rs142369480 GRCh38 Chromosome 1, 154165528: 154165528
28 TPM3 NM_152263.3(TPM3): c.*2409G> C single nucleotide variant Likely benign rs142369480 GRCh37 Chromosome 1, 154138004: 154138004
29 TPM3 NM_152263.3(TPM3): c.*2147delT deletion Likely benign rs68185418 GRCh37 Chromosome 1, 154138266: 154138266
30 TPM3 NM_152263.3(TPM3): c.*2147delT deletion Likely benign rs68185418 GRCh38 Chromosome 1, 154165790: 154165790
31 TPM3 NM_152263.3(TPM3): c.*2130delC deletion Uncertain significance rs370257288 GRCh37 Chromosome 1, 154138283: 154138283
32 TPM3 NM_152263.3(TPM3): c.*2130delC deletion Uncertain significance rs370257288 GRCh38 Chromosome 1, 154165807: 154165807
33 TPM3 NM_152263.3(TPM3): c.*1791G> A single nucleotide variant Likely benign rs114799756 GRCh37 Chromosome 1, 154138622: 154138622
34 TPM3 NM_152263.3(TPM3): c.*1791G> A single nucleotide variant Likely benign rs114799756 GRCh38 Chromosome 1, 154166146: 154166146
35 TPM3 NM_152263.3(TPM3): c.*1291A> G single nucleotide variant Uncertain significance rs375670563 GRCh37 Chromosome 1, 154139122: 154139122
36 TPM3 NM_152263.3(TPM3): c.*1291A> G single nucleotide variant Uncertain significance rs375670563 GRCh38 Chromosome 1, 154166646: 154166646
37 TPM3 NM_152263.3(TPM3): c.*1152C> T single nucleotide variant Uncertain significance rs535068015 GRCh37 Chromosome 1, 154139261: 154139261
38 TPM3 NM_152263.3(TPM3): c.*1152C> T single nucleotide variant Uncertain significance rs535068015 GRCh38 Chromosome 1, 154166785: 154166785
39 TPM3 NM_152263.3(TPM3): c.*1032T> G single nucleotide variant Benign rs6673171 GRCh37 Chromosome 1, 154139381: 154139381
40 TPM3 NM_152263.3(TPM3): c.*1032T> G single nucleotide variant Benign rs6673171 GRCh38 Chromosome 1, 154166905: 154166905
41 TPM3 NM_152263.3(TPM3): c.*903C> T single nucleotide variant Uncertain significance rs545353984 GRCh37 Chromosome 1, 154139510: 154139510
42 TPM3 NM_152263.3(TPM3): c.*903C> T single nucleotide variant Uncertain significance rs545353984 GRCh38 Chromosome 1, 154167034: 154167034
43 TPM3 NM_152263.3(TPM3): c.*489T> G single nucleotide variant Uncertain significance rs886045312 GRCh37 Chromosome 1, 154139924: 154139924
44 TPM3 NM_152263.3(TPM3): c.*489T> G single nucleotide variant Uncertain significance rs886045312 GRCh38 Chromosome 1, 154167448: 154167448
45 TPM3 NM_152263.3(TPM3): c.*406T> C single nucleotide variant Uncertain significance rs886045314 GRCh37 Chromosome 1, 154140007: 154140007
46 TPM3 NM_152263.3(TPM3): c.*406T> C single nucleotide variant Uncertain significance rs886045314 GRCh38 Chromosome 1, 154167531: 154167531
47 TPM3 NM_152263.3(TPM3): c.*325G> A single nucleotide variant Uncertain significance rs886045315 GRCh38 Chromosome 1, 154167612: 154167612
48 TPM3 NM_152263.3(TPM3): c.*325G> A single nucleotide variant Uncertain significance rs886045315 GRCh37 Chromosome 1, 154140088: 154140088
49 TPM3 NM_152263.3(TPM3): c.*283G> C single nucleotide variant Uncertain significance rs886045316 GRCh38 Chromosome 1, 154167654: 154167654
50 TPM3 NM_152263.3(TPM3): c.*283G> C single nucleotide variant Uncertain significance rs886045316 GRCh37 Chromosome 1, 154140130: 154140130
Sources

Expression for Nemaline Myopathy

About this section
Search GEO for disease gene expression data for Nemaline Myopathy.
Sources

Pathways for Nemaline Myopathy

About this section

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
Cardiac conduction 66
Show member pathways
 11.98 NEB TNNT1 TPM2 TPM3
2
Striated Muscle Contraction 1 66
10.88 ACTA1 NEB TNNT1 TPM2 TPM3
3
Smooth Muscle Contraction 66
10.71 TPM2 TPM3
Sources

GO Terms for Nemaline Myopathy

About this section

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.51 ACTA1 TPM3
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.5 KBTBD13 KLHL40 KLHL41
3 cytoskeleton GO:0005856 9.5 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
4 sarcomere GO:0030017 9.49 ACTA1 NEB
5 myofibril GO:0030016 9.48 LMOD3 NEB
6 M band GO:0031430 9.46 KLHL41 LMOD3
7 I band GO:0031674 9.43 CFL2 KLHL40
8 actin filament GO:0005884 9.43 ACTA1 TPM2 TPM3
9 striated muscle thin filament GO:0005865 9.4 ACTA1 LMOD3
10 A band GO:0031672 9.37 KLHL40 LMOD3
11 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3
12 actin cytoskeleton GO:0015629 9.02 ACTA1 CFL2 NEB TPM2 TPM3

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 9.56 CFL2 LMOD3 TPM2 TPM3
2 muscle contraction GO:0006936 9.55 ACTA1 LMOD3 TNNT1 TPM2 TPM3
3 sarcomere organization GO:0045214 9.5 CFL2 KLHL41 TNNT1
4 striated muscle contraction GO:0006941 9.46 KLHL41 LMOD3
5 negative regulation of vascular endothelial cell proliferation GO:1905563 9.43 MIR29C MIR30B
6 myofibril assembly GO:0030239 9.4 KLHL41 LMOD3
7 skeletal muscle thin filament assembly GO:0030240 9.37 ACTA1 LMOD3
8 skeletal muscle fiber development GO:0048741 9.26 ACTA1 KLHL40 KLHL41 LMOD3
9 muscle filament sliding GO:0030049 9.02 ACTA1 NEB TNNT1 TPM2 TPM3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.43 NEB TPM2 TPM3
2 actin filament binding GO:0051015 9.33 CFL2 TPM2 TPM3
3 tropomyosin binding GO:0005523 8.96 LMOD3 TNNT1
4 structural constituent of muscle GO:0008307 8.8 NEB TPM2 TPM3
Sources

Sources for Nemaline Myopathy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....