MCID: NML001
MIFTS: 47

Nemaline Myopathy

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

Aliases & Classifications for Nemaline Myopathy

MalaCards integrated aliases for Nemaline Myopathy:

Name: Nemaline Myopathy 12 72 23 49 24 36 28 13 14
Rod Myopathy 12 72 49 24
Nemaline Body Disease 12 49 24
Nemaline Rod Myopathy 12 23 49
Myopathies, Nemaline 24 41 69
Nemaline Rod Disease 49 24
Rod-Body Myopathy 49 24
Rod Body Disease 49 24
Congenital Rod Disease 49
Myopathies Nemaline 51
Myopathy, Nemaline 24
Nemaline Bodies 28
Nm 49

Characteristics:

GeneReviews:

23
Penetrance Data are insufficient to draw conclusions about penetrance in dominant (acta1-, tpm3-, tpm2-, and kbtbd13-related) forms of nm...

Classifications:



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Disease Ontology 12 DOID:3191
ICD10 32 G71.2
MeSH 41 D017696
SNOMED-CT 64 75072002
KEGG 36 H00698
UMLS 69 C0206157

Summaries for Nemaline Myopathy

NIH Rare Diseases : 49 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. Last updated: 3/10/2014

MalaCards based summary : Nemaline Myopathy, also known as rod myopathy, is related to intermediate congenital nemaline myopathy and severe congenital nemaline myopathy. An important gene associated with Nemaline Myopathy is ACTA1 (Actin, Alpha 1, Skeletal Muscle), 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 and heart, 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 : 24 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 : 72 Nemaline myopathy (also cake 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

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 intermediate congenital nemaline myopathy 32.5 ACTA1 KLHL41 NEB TPM3
2 severe congenital nemaline myopathy 31.9 ACTA1 KLHL40 KLHL41 LMOD3 NEB
3 myopathy, congenital 31.9 ACTA1 NEB TPM3
4 childhood-onset nemaline myopathy 31.8 ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
5 typical congenital nemaline myopathy 31.4 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
6 distal arthrogryposis 29.6 ACTA1 TPM2
7 myopathy 27.6 ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
8 nemaline myopathy 5 12.7
9 nemaline myopathy 3 12.6
10 nemaline myopathy 2 12.6
11 nemaline myopathy 1 12.6
12 nemaline myopathy 7 12.5
13 nemaline myopathy 4 12.5
14 nemaline myopathy 8 12.5
15 nemaline myopathy 11, autosomal recessive 12.4
16 nemaline myopathy 6 12.4
17 nemaline myopathy 9 12.4
18 nemaline myopathy 10 12.4
19 adult-onset nemaline myopathy 12.4
20 klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 12.3
21 actin-accumulation myopathy 11.5
22 intranuclear rod myopathy 11.3
23 polyglucosan body myopathy 1 with or without immunodeficiency 10.3
24 respiratory failure 10.3
25 hypertrophic cardiomyopathy 10.3
26 dilated cardiomyopathy 10.2
27 foot drop 10.1 ACTA1 NEB
28 hypothyroidism 10.1
29 hypotonia 10.1
30 systemic lupus erythematosus 10.0
31 arthrogryposis multiplex congenita, neurogenic, with myelin defect 10.0
32 lupus erythematosus 10.0
33 myopathy, congenital, with fiber-type disproportion 10.0 ACTA1 TPM3
34 cap myopathy 9.9 ACTA1 TPM2 TPM3
35 amyotrophic lateral sclerosis 1 9.9
36 gastroesophageal reflux 9.9
37 blood group, i system 9.9
38 cardiac conduction defect 9.9
39 cataract 32, multiple types 9.9
40 central core disease of muscle 9.9
41 diaphragmatic hernia, congenital 9.9
42 neuropathy, hereditary sensory and autonomic, type iii 9.9
43 spinal muscular atrophy, type i 9.9
44 myasthenia gravis 9.9
45 myeloma, multiple 9.9
46 rigid spine muscular dystrophy 1 9.9
47 muscle disorders 9.9
48 temporomandibular ankylosis 9.9
49 cardiac arrest 9.9
50 chronic progressive external ophthalmoplegia 9.9

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 ACTA1 CFL2 KLHL40 LMOD3 NEB TNNT1

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 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

Genetic Tests for Nemaline Myopathy

Genetic tests related to Nemaline Myopathy:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 28
2 Nemaline Bodies 28

Anatomical Context for Nemaline Myopathy

MalaCards organs/tissues related to Nemaline Myopathy:

38
Skeletal Muscle, Heart

Publications for Nemaline Myopathy

Articles related to Nemaline Myopathy:

(show top 50) (show all 350)
# Title Authors Year
1
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings. ( 29331079 )
2018
2
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessiveA TNNT3A splice variant. ( 29266598 )
2018
3
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort. ( 29356967 )
2018
4
Chemotherapy with stem cell transplantation is more effective than immunotherapy in sporadic late onset nemaline myopathy with monoclonal gammopathy. ( 29367711 )
2018
5
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. ( 29293963 )
2018
6
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). ( 29328520 )
2018
7
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. ( 29178646 )
2017
8
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. ( 27890461 )
2017
9
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ( 28017374 )
2017
10
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28134641 )
2017
11
Sarcomere Dysfunction in Nemaline Myopathy. ( 28436394 )
2017
12
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea. ( 29246625 )
2017
13
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. ( 28490364 )
2017
14
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance. ( 28678037 )
2017
15
Clinical and HistologicA Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. ( 28780987 )
2017
16
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy. ( 28606401 )
2017
17
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. ( 28131200 )
2017
18
Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene. ( 29433794 )
2017
19
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28468212 )
2017
20
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions. ( 28516742 )
2017
21
Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy. ( 28977494 )
2017
22
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. ( 27242277 )
2016
23
Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. ( 27429059 )
2016
24
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
25
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. ( 27215641 )
2016
26
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. ( 26754003 )
2016
27
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). ( 27528495 )
2016
28
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. ( 27105866 )
2016
29
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. ( 27818064 )
2016
30
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. ( 27102768 )
2016
31
The de novo missense mutation N117S in skeletal muscle I+a89actinA 1 causes a mild form of congenital nemaline myopathy. ( 27357517 )
2016
32
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. ( 26891371 )
2016
33
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. ( 27644222 )
2016
34
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ( 26825889 )
2016
35
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. ( 27580764 )
2016
36
Potential causes of sudden cardiac death in nemaline myopathy. ( 26416716 )
2015
37
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. ( 26197980 )
2015
38
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. ( 25654555 )
2015
39
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. ( 25890230 )
2015
40
Nemaline myopathy and heart failure: role of ivabradine; a case report. ( 25597856 )
2015
41
LMOD3: the "missing link" in nemaline myopathy? ( 26337340 )
2015
42
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy. ( 27858751 )
2015
43
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. ( 26123491 )
2015
44
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. ( 25721947 )
2015
45
Review of Cardiac Disease in Nemaline Myopathy. ( 26507755 )
2015
46
Clinical utility gene card for: Nemaline myopathy. ( 25712079 )
2015
47
Two novel nebulin variants in an adult patient with congenital nemaline myopathy. ( 25740301 )
2015
48
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. ( 25949787 )
2015
49
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. ( 26035871 )
2015
50
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. ( 25430424 )
2015

Variations for Nemaline Myopathy

ClinVar genetic disease variations for Nemaline Myopathy:

6
# 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

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

GO Terms for Nemaline Myopathy

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.51 ACTA1 NEB
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 stress fiber GO:0001725 9.49 ACTA1 TPM3
5 M band GO:0031430 9.48 KLHL41 LMOD3
6 I band GO:0031674 9.43 CFL2 KLHL40
7 actin filament GO:0005884 9.43 ACTA1 TPM2 TPM3
8 A band GO:0031672 9.4 KLHL40 LMOD3
9 striated muscle thin filament GO:0005865 9.37 ACTA1 LMOD3
10 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3
11 actin cytoskeleton GO:0015629 9.02 ACTA1 CFL2 NEB TPM2 TPM3
12 cytoplasm GO:0005737 10.11 ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.56 ACTA1 LMOD3 TPM2 TPM3
2 actin filament organization GO:0007015 9.46 CFL2 LMOD3 TPM2 TPM3
3 sarcomere organization GO:0045214 9.43 CFL2 KLHL41
4 striated muscle contraction GO:0006941 9.4 KLHL41 LMOD3
5 myofibril assembly GO:0030239 9.37 KLHL41 LMOD3
6 skeletal muscle thin filament assembly GO:0030240 9.32 ACTA1 LMOD3
7 skeletal muscle fiber development GO:0048741 9.26 ACTA1 KLHL40 KLHL41 LMOD3
8 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 ubiquitin-protein transferase activity GO:0004842 9.5 KBTBD13 KLHL40 KLHL41
2 actin binding GO:0003779 9.43 NEB TPM2 TPM3
3 actin filament binding GO:0051015 9.33 CFL2 TPM2 TPM3
4 tropomyosin binding GO:0005523 8.96 LMOD3 TNNT1
5 structural constituent of muscle GO:0008307 8.8 NEB TPM2 TPM3

Sources for Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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