MCID: NML001
MIFTS: 44

Nemaline Myopathy malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories

Aliases & Classifications for Nemaline Myopathy

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Aliases & Descriptions for Nemaline Myopathy:

Name: Nemaline Myopathy 10 11 21 45 22 23 12
Nemaline Rod Myopathy 10 21 45 22
Nemaline Body Disease 10 45 23
Myopathies, Nemaline 23 65 36
Rod Myopathy 10 45 23
Nemaline Rod Disease 45 23
 
Myopathies Nemaline 47 24
Rod-Body Myopathy 45 23
Rod Body Disease 45 23
Congenital Rod Disease 45
Myopathy, Nemaline 23


Classifications:



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Disease Ontology10 DOID:3191
MeSH36 D017696
SNOMED-CT59 75072002
ICD9CM29 359.0

Summaries for Nemaline Myopathy

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NIH Rare Diseases:45 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 1, autosomal dominant or recessive and myopathy. An important gene associated with Nemaline Myopathy is TPM3 (Tropomyosin 3), and among its related pathways are Cardiac muscle contraction and Striated Muscle Contraction. Affiliated tissues include skeletal muscle and heart.

Disease Ontology:10 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:23 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). 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:68 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews summary for nem

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
Klhl40-Related Nemaline Myopathy Acta1-Related Nemaline Myopathy
Cfl2-Related Nemaline Myopathy Kbtbd13-Related Nemaline Myopathy
Klhl41-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 73)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy 1, autosomal dominant or recessive31.2ACTA1, TPM3
2myopathy11.4
3nemaline myopathy 5, amish type10.9
4nemaline myopathy 3, autosomal dominant or recessive10.8
5adult-onset nemaline myopathy10.8
6cardiomyopathy10.7
7nemaline myopathy 7, autosomal recessive10.7
8severe congenital nemaline myopathy10.7
9nemaline myopathy 2, autosomal recessive10.7
10nemaline myopathy 4, autosomal dominant10.7
11childhood-onset nemaline myopathy10.7
12nemaline myopathy 8, autosomal recessive10.6
13nemaline myopathy 6, autosomal dominant10.6
14nemaline myopathy 910.6
15nemaline myopathy 1010.6
16intermediate congenital nemaline myopathy10.6
17hypertrophic cardiomyopathy10.6
18typical congenital nemaline myopathy10.6
19respiratory failure10.6
20tnnt1-related nemaline myopathy10.6
21neb-related nemaline myopathy10.5
22tpm2-related nemaline myopathy10.5
23tpm3-related nemaline myopathy10.5
24klhl40-related nemaline myopathy10.5
25acta1-related nemaline myopathy10.5
26cfl2-related nemaline myopathy10.5
27kbtbd13-related nemaline myopathy10.5
28klhl41-related nemaline myopathy10.5
29dilated cardiomyopathy10.4
30hypothyroidism10.4
31ophthalmoplegia10.4
32hypotonia10.4
33actin-accumulation myopathy10.3
34intranuclear rod myopathy10.3
35systemic lupus erythematosus10.2
36multiple myeloma10.2
37gastroesophageal reflux10.2
38central core disease10.2
39escobar syndrome10.2
40muscle disorders10.2
41temporomandibular ankylosis10.2
42congenital diaphragmatic hernia10.2
43lateral sclerosis10.2
44ankylosis10.2
45cardiac arrest10.2
46lupus erythematosus10.2
47myeloma10.2
48neuromuscular disease10.2
49sudden cardiac death10.2
50dysautonomia10.2

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



Diseases related to nemaline myopathy

Symptoms for Nemaline Myopathy

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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 2547

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial to Evaluate the Effectiveness of Acupuncture as a Treatment in Patients Diagnosed With CFS.RecruitingNCT01907711Phase 2, Phase 3
2Treatment of TNNT1-Myopathy With L-Tyrosine.Enrolling by invitationNCT02035501Phase 2
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
4Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
5Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

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 Myopathy22 24 TPM3

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

33
Skeletal muscle, Heart

Animal Models for Nemaline Myopathy or affiliated genes

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Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50)    (show all 310)
idTitleAuthorsYear
1
Sudden cardiac arrest in a child with nemaline myopathy. (25888334)
2015
2
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. (25430424)
2015
3
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. (26123491)
2015
4
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. (25721947)
2015
5
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
6
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. (25088345)
2014
7
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25250574)
2014
8
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. (24447884)
2014
9
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. (25381859)
2014
10
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
11
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
12
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. (22442437)
2012
13
Nemaline myopathy-related skeletal muscle I+-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. (23029319)
2012
14
Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. (21570694)
2011
15
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. (22067542)
2011
16
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
17
Nemaline myopathy: clinical, histochemical and immunohistochemical features. (19838523)
2009
18
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. (18565829)
2008
19
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
20
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
21
Skeletal muscle repair in a mouse model of nemaline myopathy. (16877500)
2006
22
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
23
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. (16945537)
2006
24
Hypothyroidism and nemaline myopathy in an adult. (16614046)
2006
25
Magnetic resonance imaging of muscle in nemaline myopathy. (15564032)
2004
26
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (15198992)
2004
27
Clinical course correlates poorly with muscle pathology in nemaline myopathy. (12601110)
2003
28
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. (12899878)
2003
29
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. (12731651)
2003
30
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
31
Nebulin mutations in autosomal recessive nemaline myopathy: an update. (12207938)
2002
32
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. (12467750)
2002
33
Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy. (11453573)
2001
34
Respiratory failure in nemaline myopathy. (9744641)
1998
35
Nemaline myopathy in the neonate: two case reports. (8789770)
1996
36
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (7663526)
1995
37
Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria. (7935532)
1994
38
A new case of severe congenital nemaline myopathy. (8155933)
1993
39
Fiber type disproportion in nemaline myopathy. (2804774)
1989
40
Progression in nemaline myopathy. (2683560)
1989
41
Pathology of congenital nemaline myopathy. A follow-up study. (3356991)
1988
42
Early fatal nemaline myopathy: case report and review. (2826279)
1987
43
Nemaline myopathy in an adult with primary hypothyroidism. (3719466)
1986
44
Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings. (4051839)
1985
45
A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. (6247453)
1980
46
Nemaline myopathy. (506794)
1979
47
A new concept of childhood nemaline myopathy. (4251331)
1971
48
Nemaline myopathy. I. Histochemical study. (4179485)
1968
49
Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. (5939042)
1966
50
NEMALINE MYOPATHY; A SECOND CASE. (14147679)
1964

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.

Pathways for genes affiliated with Nemaline Myopathy

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Pathways related to Nemaline Myopathy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TPM2, TPM3
2
Show member pathways
8.6ACTA1, NEB, TNNT1, TPM2, TPM3

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:000172510.3ACTA1, TPM3
3striated muscle thin filamentGO:000586510.0ACTA1, LMOD3
4M bandGO:003143010.0KLHL41, LMOD3
5myofibrilGO:00300169.8LMOD3, NEB
6A bandGO:00316729.5KLHL40, LMOD3
7I bandGO:00316749.5CFL2, KLHL40
8actin cytoskeletonGO:00156299.3ACTA1, CFL2, NEB
9Cul3-RING ubiquitin ligase complexGO:00314639.0KBTBD13, KLHL40, KLHL41
10cytoskeletonGO:00058568.9KLHL41, LMOD3, TPM3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1myofibril assemblyGO:003023910.0KLHL41, LMOD3
2sarcomere organizationGO:00452149.9CFL2, KLHL41
3skeletal muscle fiber developmentGO:00487419.3ACTA1, KLHL40, KLHL41
4muscle contractionGO:00069369.1ACTA1, LMOD3, TPM2, TPM3
5actin filament organizationGO:00070159.1CFL2, LMOD3
6protein ubiquitinationGO:00165678.7KBTBD13, KLHL40, KLHL41
7muscle filament slidingGO:00300498.6ACTA1, NEB, TNNT1, TPM2, TPM3

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

idNameGO IDScoreTop Affiliating Genes
1tropomyosin bindingGO:000552310.0LMOD3, TNNT1
2structural constituent of muscleGO:00083079.4NEB, TPM2
3ubiquitin-protein transferase activityGO:00048429.2KBTBD13, KLHL40, KLHL41
4actin bindingGO:00037799.0CFL2, NEB, TPM2, TPM3
5protein bindingGO:00055155.8ACTA1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3

Sources for Nemaline Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet