MCID: NML001
MIFTS: 46

Nemaline Myopathy malady

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

Aliases & Classifications for Nemaline Myopathy

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Aliases & Descriptions for Nemaline Myopathy:

Name: Nemaline Myopathy 11 23 48 24 25 12 13
Nemaline Body Disease 11 48 25 27
Nemaline Rod Myopathy 11 23 48 24
Myopathies, Nemaline 25 39 68
Rod Myopathy 11 48 25
Nemaline Rod Disease 48 25
 
Myopathy, Nemaline 25 27
Rod-Body Myopathy 48 25
Rod Body Disease 48 25
Congenital Rod Disease 48
Myopathies Nemaline 50
Nm 48

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 Ontology11 DOID:3191
ICD1030 G71.2
SNOMED-CT62 75072002
MeSH39 D017696

Summaries for Nemaline Myopathy

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NIH Rare Diseases:48 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 body disease, is related to nemaline myopathy 1, autosomal dominant or recessive and nemaline myopathy 3, autosomal dominant or recessive. An important gene associated with Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways are Cardiac muscle contraction and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle and heart, and related mouse phenotype muscle.

Disease Ontology:11 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:71 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews for NBK1288

Related Diseases for Nemaline Myopathy

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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 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 68)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy 1, autosomal dominant or recessive33.5ACTA1, TPM3
2nemaline myopathy 3, autosomal dominant or recessive12.4
3nemaline myopathy 5, amish type12.4
4nemaline myopathy 7, autosomal recessive12.3
5nemaline myopathy 4, autosomal dominant12.3
6nemaline myopathy 2, autosomal recessive12.3
7nemaline myopathy 912.3
8nemaline myopathy 8, autosomal recessive12.3
9nemaline myopathy 1012.3
10nemaline myopathy 6, autosomal dominant12.2
11childhood-onset nemaline myopathy12.1
12adult-onset nemaline myopathy12.1
13severe congenital nemaline myopathy12.0
14klhl40-related nemaline myopathy12.0
15tnnt1-related nemaline myopathy12.0
16intermediate congenital nemaline myopathy11.9
17typical congenital nemaline myopathy11.9
18acta1-related nemaline myopathy11.9
19cfl2-related nemaline myopathy11.9
20kbtbd13-related nemaline myopathy11.9
21klhl41-related nemaline myopathy11.9
22neb-related nemaline myopathy11.9
23tpm2-related nemaline myopathy11.9
24tpm3-related nemaline myopathy11.9
25lmod3-related nemaline myopathy11.9
26klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism11.6
27intranuclear rod myopathy11.2
28myopathy11.1
29actin-accumulation myopathy11.0
30cardiomyopathy10.4
31respiratory failure10.2
32myopathy, congenital, with fiber-type disproportion10.1ACTA1, TPM3
33dilated cardiomyopathy10.1
34congenital myopathy10.0
35hypothyroidism10.0
36hypotonia10.0
37systemic capillary leak syndrome9.9ACTA1, TPM2, TPM3
38headache9.9ACTA1, NEB
39microcephaly and chorioretinopathy 19.9ACTA1, TPM2, TPM3
40systemic lupus erythematosus9.8
41multiple myeloma9.8
42gastroesophageal reflux9.8
43central core disease9.8
44escobar syndrome9.8
45muscle disorders9.8
46myasthenia gravis9.8
47temporomandibular ankylosis9.8
48cardiac arrest9.8
49pneumothorax9.8
50ankylosis9.8

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



Diseases related to nemaline myopathy

Symptoms & Phenotypes for Nemaline Myopathy

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MGI Mouse Phenotypes related to Nemaline Myopathy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.0ACTA1, CFL2, KLHL40, LMOD3, NEB, TNNT1

Drugs & Therapeutics for Nemaline Myopathy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1tyrosineNutraceuticalPhase 2659

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of TNNT1-Myopathy With L-Tyrosine.Unknown statusNCT02035501Phase 2
2Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Nemaline Myopathy


Cochrane evidence based reviews: myopathies, nemaline

Genetic Tests for Nemaline Myopathy

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Genetic tests related to Nemaline Myopathy:

id Genetic test Affiliating Genes
1 Nemaline Myopathy27 24 TPM3
2 Nemaline Bodies27

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

36
Skeletal muscle, Heart

Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50)    (show all 330)
idTitleAuthorsYear
1
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. (28017374)
2017
2
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. (27890461)
2017
3
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. (26891371)
2016
4
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. (27644222)
2016
5
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. (27818064)
2016
6
Adult-onset Nemaline Myopathy Coexisting With Myasthenia Gravis: A Case Report. (26825889)
2016
7
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy. (27580764)
2016
8
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors. (26754003)
2016
9
The de novo missense mutation N117S in skeletal muscle I+a89actinA 1 causes a mild form of congenital nemaline myopathy. (27357517)
2016
10
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. (27242277)
2016
11
Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy. (27215641)
2016
12
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. (27102768)
2016
13
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. (27105866)
2016
14
A case of congenital myopathy (Nemaline myopathy). (27727847)
2016
15
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8). (27528495)
2016
16
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. (25430424)
2015
17
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25654555)
2015
18
LMOD3: the "missing link" in nemaline myopathy? (26337340)
2015
19
Two novel nebulin variants in an adult patient with congenital nemaline myopathy. (25740301)
2015
20
Potential causes of sudden cardiac death in nemaline myopathy. (26416716)
2015
21
Nemaline myopathy and heart failure: role of ivabradine; a case report. (25597856)
2015
22
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. (25931053)
2015
23
Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle. (26348902)
2015
24
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. (26197980)
2015
25
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature. (25890230)
2015
26
Sudden cardiac arrest in a child with nemaline myopathy. (25888334)
2015
27
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. (26123491)
2015
28
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. (25721947)
2015
29
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy. (27858751)
2015
30
Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene. (25949787)
2015
31
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. (26035871)
2015
32
Review of Cardiac Disease in Nemaline Myopathy. (26507755)
2015
33
Clinical utility gene card for: Nemaline myopathy. (25712079)
2015
34
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
35
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. (25088345)
2014
36
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25250574)
2014
37
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. (25381859)
2014
38
Sporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT. (25378674)
2014
39
Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy. (24610938)
2014
40
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy. (24852243)
2014
41
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. (24725366)
2014
42
Loss of Tropomodulin4 in the zebrafish mutant trAoge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy. (25288681)
2014
43
Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone. (25524603)
2014
44
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. (24447884)
2014
45
Clinical and pathological features of patients with nemaline myopathy. (24788569)
2014
46
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. (24960163)
2014
47
Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy. (25268244)
2014
48
Sexually dimorphic myofilament function in a mouse model of nemaline myopathy. (25261348)
2014
49
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
50
Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy. (23656990)
2013

Variations for Nemaline Myopathy

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Clinvar genetic disease variations for Nemaline Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KLHL41NM_006063.2(KLHL41): c.641delA (p.Asn214Thrfs)deletionLikely pathogenic, Pathogenicrs730882235GRCh37Chr 2, 170366929: 170366929

Expression for genes affiliated with Nemaline Myopathy

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Search GEO for disease gene expression data for Nemaline Myopathy.

GO Terms for genes affiliated with Nemaline Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1muscle thin filament tropomyosinGO:000586210.3TPM2, TPM3
2stress fiberGO:000172510.1ACTA1, TPM3
3I bandGO:00316749.9CFL2, KLHL40
4actin cytoskeletonGO:00156299.9ACTA1, CFL2, NEB
5M bandGO:00314309.8KLHL41, LMOD3
6A bandGO:00316729.7KLHL40, LMOD3
7Cul3-RING ubiquitin ligase complexGO:00314639.5KBTBD13, KLHL40, KLHL41
8striated muscle thin filamentGO:00058659.3ACTA1, LMOD3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sarcomere organizationGO:004521410.0CFL2, KLHL41
2myofibril assemblyGO:00302399.9KLHL41, LMOD3
3actin filament organizationGO:00070159.9CFL2, LMOD3
4protein ubiquitinationGO:00165679.4KBTBD13, KLHL40, KLHL41
5muscle contractionGO:00069369.4ACTA1, LMOD3, TPM2, TPM3
6muscle filament slidingGO:00300499.2ACTA1, NEB, TNNT1, TPM2, TPM3
7skeletal muscle fiber developmentGO:00487419.2ACTA1, KLHL40, KLHL41

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:000830710.4NEB, TPM2
2actin bindingGO:000377910.1NEB, TPM2, TPM3
3tropomyosin bindingGO:00055239.8LMOD3, TNNT1
4ubiquitin-protein transferase activityGO:00048429.0KBTBD13, KLHL40, KLHL41

Sources for Nemaline Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet