MCID: NML001
MIFTS: 47

Nemaline Myopathy

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

Aliases & Classifications for Nemaline Myopathy

MalaCards integrated aliases for Nemaline Myopathy:

Name: Nemaline Myopathy 12 23 50 24 25 29 13 14
Nemaline Rod Myopathy 12 23 50 24
Nemaline Body Disease 12 50 25
Myopathies, Nemaline 25 42 69
Rod Myopathy 12 50 25
Nemaline Rod Disease 50 25
Rod-Body Myopathy 50 25
Rod Body Disease 50 25
Congenital Rod Disease 50
Myopathies Nemaline 52
Myopathy, Nemaline 25
Nemaline Bodies 29
Nm 50

Characteristics:

GeneReviews:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:3191
ICD10 33 G71.2
MeSH 42 D017696
SNOMED-CT 64 75072002
UMLS 69 C0206157

Summaries for Nemaline Myopathy

NIH Rare Diseases : 50 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 nemaline rod myopathy, is related to nemaline myopathy 5, amish type and nemaline myopathy 3, autosomal dominant or recessive. An important gene associated with Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cardiac conduction and Cardiac muscle contraction. 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 : 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 : 72 31991... more...

GeneReviews: NBK1288

Related Diseases for Nemaline Myopathy

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 1, Autosomal Dominant or Recessive Nemaline Myopathy 3, Autosomal Dominant or Recessive
Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy 9
Nemaline Myopathy 8, Autosomal Recessive Nemaline Myopathy 10
Nemaline Myopathy 4, Autosomal Dominant Nemaline Myopathy 11, Autosomal Recessive
Nemaline Myopathy 7, Autosomal Recessive Nemaline Myopathy 6, Autosomal Dominant
Adult-Onset Nemaline Myopathy Intermediate Congenital Nemaline Myopathy
Severe Congenital Nemaline Myopathy Acta1-Related Nemaline Myopathy
Cfl2-Related Nemaline Myopathy Kbtbd13-Related Nemaline Myopathy
Klhl40-Related Nemaline Myopathy Klhl41-Related Nemaline Myopathy
Lmod3-Related Nemaline Myopathy Neb-Related Nemaline Myopathy
Tnnt1-Related Nemaline Myopathy Tpm2-Related Nemaline Myopathy
Tpm3-Related Nemaline Myopathy

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 nemaline myopathy 5, amish type 12.4
2 nemaline myopathy 3, autosomal dominant or recessive 12.4
3 nemaline myopathy 7, autosomal recessive 12.3
4 nemaline myopathy 2, autosomal recessive 12.3
5 nemaline myopathy 1, autosomal dominant or recessive 12.3
6 nemaline myopathy 8, autosomal recessive 12.3
7 nemaline myopathy 4, autosomal dominant 12.3
8 nemaline myopathy 11, autosomal recessive 12.3
9 childhood-onset nemaline myopathy 12.3
10 nemaline myopathy 9 12.3
11 nemaline myopathy 10 12.3
12 nemaline myopathy 6, autosomal dominant 12.3
13 adult-onset nemaline myopathy 12.3
14 severe congenital nemaline myopathy 12.2
15 intermediate congenital nemaline myopathy 12.2
16 typical congenital nemaline myopathy 12.2
17 klhl40-related nemaline myopathy 12.0
18 acta1-related nemaline myopathy 12.0
19 tnnt1-related nemaline myopathy 11.9
20 cfl2-related nemaline myopathy 11.9
21 kbtbd13-related nemaline myopathy 11.9
22 klhl41-related nemaline myopathy 11.9
23 neb-related nemaline myopathy 11.9
24 tpm2-related nemaline myopathy 11.9
25 tpm3-related nemaline myopathy 11.9
26 lmod3-related nemaline myopathy 11.8
27 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 11.6
28 congenital myopathy 11.3
29 intranuclear rod myopathy 11.2
30 myopathy 11.1
31 actin-accumulation myopathy 10.9
32 cardiomyopathy 10.4
33 respiratory failure 10.2
34 myopathy, congenital, with fiber-type disproportion 10.2 ACTA1 TPM3
35 dilated cardiomyopathy 10.1
36 hypothyroidism 10.0
37 hypotonia 10.0
38 carcinoid tumor childhood 9.9 ACTA1 TPM2 TPM3
39 hemiplegia alterans 9.9 ACTA1 NEB
40 systemic lupus erythematosus 9.8
41 multiple myeloma 9.8
42 gastroesophageal reflux 9.8
43 central core disease 9.8
44 escobar syndrome 9.8
45 muscle disorders 9.8
46 myasthenia gravis 9.8
47 temporomandibular ankylosis 9.8
48 cardiac arrest 9.8
49 pneumothorax 9.8
50 ankylosis 9.8

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:

44
id 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):


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

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Nemaline Myopathy 29 24 TPM3
2 Nemaline Bodies 29

Anatomical Context for Nemaline Myopathy

MalaCards organs/tissues related to Nemaline Myopathy:

39
Skeletal Muscle, Heart

Publications for Nemaline Myopathy

Articles related to Nemaline Myopathy:

(show top 50) (show all 340)
id Title Authors Year
1
Monoclonal gammopathy with both nemaline myopathy and amyloid myopathy. ( 28606401 )
2017
2
Sarcomere Dysfunction in Nemaline Myopathy. ( 28436394 )
2017
3
Clinical and HistologicA Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. ( 28780987 )
2017
4
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. ( 28490364 )
2017
5
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. ( 28131200 )
2017
6
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28468212 )
2017
7
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28134641 )
2017
8
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance. ( 28678037 )
2017
9
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ( 28017374 )
2017
10
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. ( 27890461 )
2017
11
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions. ( 28516742 )
2017
12
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). ( 27528495 )
2016
13
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. ( 27105866 )
2016
14
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. ( 26891371 )
2016
15
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. ( 26754003 )
2016
16
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. ( 27242277 )
2016
17
A case of congenital myopathy (Nemaline myopathy). ( 27727847 )
2016
18
Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies. ( 27429059 )
2016
19
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. ( 26825889 )
2016
20
The de novo missense mutation N117S in skeletal muscle I+a89actinA 1 causes a mild form of congenital nemaline myopathy. ( 27357517 )
2016
21
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. ( 27102768 )
2016
22
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. ( 27580764 )
2016
23
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. ( 27818064 )
2016
24
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. ( 27215641 )
2016
25
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. ( 27644222 )
2016
26
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. ( 25721947 )
2015
27
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. ( 25949787 )
2015
28
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. ( 25890230 )
2015
29
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy. ( 27858751 )
2015
30
Clinical utility gene card for: Nemaline myopathy. ( 25712079 )
2015
31
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. ( 25931053 )
2015
32
Sudden cardiac arrest in a child with nemaline myopathy. ( 25888334 )
2015
33
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. ( 25654555 )
2015
34
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. ( 26123491 )
2015
35
Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. ( 26348902 )
2015
36
Potential causes of sudden cardiac death in nemaline myopathy. ( 26416716 )
2015
37
LMOD3: the "missing link" in nemaline myopathy? ( 26337340 )
2015
38
Nemaline myopathy and heart failure: role of ivabradine; a case report. ( 25597856 )
2015
39
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. ( 26035871 )
2015
40
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. ( 25430424 )
2015
41
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. ( 26197980 )
2015
42
Two novel nebulin variants in an adult patient with congenital nemaline myopathy. ( 25740301 )
2015
43
Review of Cardiac Disease in Nemaline Myopathy. ( 26507755 )
2015
44
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. ( 24725366 )
2014
45
Sporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT. ( 25378674 )
2014
46
Sexually dimorphic myofilament function in a mouse model of nemaline myopathy. ( 25261348 )
2014
47
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. ( 25088345 )
2014
48
Clinical and pathological features of patients with nemaline myopathy. ( 24788569 )
2014
49
Loss of Tropomodulin4 in the zebrafish mutant trAoge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy. ( 25288681 )
2014
50
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. ( 24689076 )
2014

Variations for Nemaline Myopathy

ClinVar genetic disease variations for Nemaline Myopathy:

6
id 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

GO Terms for Nemaline Myopathy

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

(show all 12)
id 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 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3
10 striated muscle thin filament GO:0005865 9.07 ACTA1
11 actin cytoskeleton GO:0015629 8.92 ACTA1 CFL2 NEB 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:

id Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.43 CFL2 KLHL41
2 muscle contraction GO:0006936 9.43 ACTA1 TPM2 TPM3
3 actin filament organization GO:0007015 9.33 CFL2 TPM2 TPM3
4 skeletal muscle fiber development GO:0048741 9.26 ACTA1 KLHL40 KLHL41 LMOD3
5 striated muscle contraction GO:0006941 9.1 KLHL41
6 myofibril assembly GO:0030239 9.07 KLHL41
7 skeletal muscle thin filament assembly GO:0030240 9.02 ACTA1
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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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