MCID: NML001
MIFTS: 48

Nemaline Myopathy malady

Summaries for Nemaline Myopathy

Sources:
21Genetics Home Reference, 64Wikipedia, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Nemaline Myopathy, also known as nemaline body disease, is related to myopathy congenital and hypertrophic cardiomyopathy. An important gene associated with Nemaline Myopathy is TPM3 (tropomyosin 3), and among its related pathways are Cell adhesion Integrin-mediated cell adhesion and migration and Development Slit-Robo signaling. The compounds actomyosin and glycogen have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and t cells, and related mouse phenotype muscle.

Wikipedia:64 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews summary for nem

Aliases & Classifications for Nemaline Myopathy

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

nemaline myopathy 8 9 19 20 22 21 10
nemaline body disease 8 21
myopathies, nemaline 21 61
nemaline rod myopathy 19
nemaline rod disease 21
myopathies nemaline 45
myopathy, nemaline 21
rod-body myopathy 21
rod body disease 21
rod myopathy 21


External Ids:

Disease Ontology8 DOID:3191
SNOMED-CT57 75072002
MeSH35 D017696

Related Diseases for Nemaline Myopathy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Nemaline Myopathy family:

nemaline myopathy 5 nemaline myopathy 1
nemaline myopathy 2 nemaline myopathy 3
nemaline myopathy 4 nemaline myopathy 6
severe congenital nemaline myopathy intermediate nemaline myopathy
adult-onset nemaline myopathy

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy congenital31.3ACTA1, NEB
2hypertrophic cardiomyopathy30.8TNNT2, ACTC1, TPM1, TPM3
3central core myopathy30.1MYOT, NEB
4myofibrillar myopathy30.1MYOT, FLNC
5adult-onset nemaline myopathy10.7
6nemaline myopathy 110.6
7nemaline myopathy 510.6
8nemaline myopathy 210.6
9nemaline myopathy 3, autosomal dominant or recessive10.6
10severe congenital nemaline myopathy10.6
11rod myopathy10.5
12nemaline myopathy 410.5
13intranuclear rod myopathy10.5
14nemaline myopathy 310.5
15childhood-onset nemaline myopathy10.5
16nemaline myopathy 610.4
17acta1-related nemaline myopathy10.4
18n syndrome10.3
19neb-related nemaline myopathy10.3
20tnnt1-related nemaline myopathy10.3
21tpm2-related nemaline myopathy10.3
22tpm3-related nemaline myopathy10.3
23cfl2-related nemaline myopathy10.3
24kbtbd13-related nemaline myopathy10.3
25hypotonia10.3
26nemaline myopathy 2, autosomal recessive10.3
27nemaline myopathy 8, autosomal recessive10.3
28nemaline myopathy 7, autosomal recessive10.3
29tooth disease10.3
30actin-accumulation myopathy10.3
31nemaline myopathy 1, autosomal dominant or recessive10.3
32nemaline myopathy 4, autosomal dominant10.3
33nemaline myopathy 6, autosomal dominant10.3
34nemaline myopathy 5, amish type10.3
35intermediate nemaline myopathy10.3
36typical nemaline myopathy10.3
37werdnig-hoffmann disease10.1
38lateral sclerosis10.1
39ankylosis10.1
40systemic lupus erythematosus10.1
41congenital diaphragmatic hernia10.1
42amyotrophic lateral sclerosis10.1
43autosomal dominant disease10.1
44temporomandibular ankylosis10.1
45rigid spine syndrome10.1
46idiopathic myopathy10.1
47trabecular fiber myopathy10.1
48dysautonomia10.1
49dysphagia10.1
50hypertonia10.1

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



Diseases related to nemaline myopathy

Clinical Features for Nemaline Myopathy

Drugs & Therapeutics for Nemaline Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Nemaline Myopathy

Search CenterWatch for Nemaline Myopathy

Genetic Tests for Nemaline Myopathy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Nemaline Myopathy:

id Genetic test Affiliating Genes
1 Nemaline Myopathy20 22 TPM3

Anatomical Context for Nemaline Myopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Nemaline Myopathy:

33
Heart, Skeletal muscle, T cells

Animal Models for Nemaline Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Nemaline Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2ACTA1, ACTC1, CFL2, NEB, FLNC, TNNT2

Publications for Nemaline Myopathy

Sources:
51PubMed
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Articles related to Nemaline Myopathy:

(show top 50)    (show all 304)
idTitleAuthorsYear
1
Nemaline Myopathy Type 2 (NEM2): Two Novel Mutations in the Nebulin (NEB) Gene. (24056153)
2013
2
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy. (23715096)
2013
3
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
4
On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. (23620652)
2012
5
Hypertrophic cardiomyopathy in a neonate associated with nemaline myopathy. (22067214)
2012
6
Abnormal actin binding of aberrant I^-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. (22084935)
2012
7
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. (22367672)
2012
8
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. (21798101)
2011
9
Nemaline myopathy type 6: clinical and myopathological features. (21104864)
2010
10
Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. (19155175)
2009
11
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. (18565829)
2008
12
A "nema" of hope in the treatment of late-onset nemaline myopathy. (18695157)
2008
13
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
14
Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci. (17157023)
2007
15
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). (17846275)
2007
16
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. (16945537)
2006
17
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. (16427282)
2006
18
Muscle slowness in a family with nemaline myopathy. (16793268)
2006
19
Sporadic late onset nemaline myopathy. (16148261)
2005
20
Isolated dropped head due to adult-onset nemaline myopathy treated by posterior fusion. (16275851)
2005
21
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. (12899878)
2003
22
Nemaline myopathy and early respiratory failure. (12655434)
2003
23
Nebulin mutations in autosomal recessive nemaline myopathy: an update. (12207938)
2002
24
Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy. (12564770)
2002
25
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. (11257470)
2001
26
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report. (11748499)
2001
27
Nemaline myopathy: a clinical study of 143 cases. (11558787)
2001
28
Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands. (11525890)
2001
29
'An artefact gone awry': identification of the first case of nemaline myopathy by Dr R.D.K. Reye. (10838259)
2000
30
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (10051637)
1999
31
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. (10619715)
1999
32
Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop. December 12-14, 1997, Naarden, The Netherlands. (10063836)
1999
33
Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. (9484391)
1998
34
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
35
Adult-onset nemaline myopathy: a case report and review of the literature. (9372751)
1997
36
Fetal akinesia sequence caused by nemaline myopathy. (9208412)
1997
37
40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands. (8938704)
1996
38
Progressive nemaline rod myopathy in a woman coinfected with HIV-1 and HTLV-2. (8345853)
1993
39
Familial nemaline myopathy: case reports. (1653926)
1991
40
Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction. (1785661)
1991
41
Respiratory deterioration during growth hormone therapy in a case of congenital nemaline myopathy. (2079082)
1990
42
Nemaline myopathy associated with hypertrophic cardiomyopathy. (3242535)
1988
43
Nemaline myopathy in an adult with primary hypothyroidism. (3719466)
1986
44
Familial dysautonomia manifesting as neonatal nemaline myopathy. (2854735)
1985
45
Congenital nemaline myopathy: two patients with consanguineous parents, one with a progressive course. (6196458)
1983
46
Fast to slow change of myosin in nemaline myopathy: electrophoretic and immunologic evidence. (7198731)
1982
47
Nemaline myopathy associated with consanguinity. (7228590)
1980
48
Nemaline myopathy. (506794)
1979
49
Nemaline myopathy. Report of four cases and review of the literature. (5021460)
1972
50
A new concept of childhood nemaline myopathy. (4251331)
1971

Genetic Variations for Nemaline Myopathy

Expression for genes affiliated with Nemaline Myopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nemaline Myopathy

Search GEO for disease gene expression data for Nemaline Myopathy.

Pathways for genes affiliated with Nemaline Myopathy

Sources:
12EMD Millipore, 30KEGG, 4Cell Signaling Technology, 38NCBI BioSystems Database, 54Reactome
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Compounds for genes affiliated with Nemaline Myopathy

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
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Compounds related to Nemaline Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin459.6TNNT1, NEB, ACTC1
2glycogen45 2410.6AASS, ACTC1, NEB, TNNT2
3calcium45 50 11 249.7TPM3, TNNT2, TNNI2, TNNT1, TNNT3, FLNC

GO Terms for genes affiliated with Nemaline Myopathy

Sources:
16Gene Ontology
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Cellular components related to Nemaline Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin filamentGO:00588410.1ACTA1, ACTC1
2muscle thin filament tropomyosinGO:00586210.1TPM1, TPM2, TPM3
3striated muscle thin filamentGO:00586510.1TNNT2, ACTA1
4stress fiberGO:00172510.0TPM3, TPM1, ACTA1
5filamentous actinGO:0319419.8TPM3, TPM1
6Z discGO:0300189.7MYOT, NEB, FLNC
7troponin complexGO:0058619.7TNNT2, TNNI2, TNNT1, TNNT3
8actin cytoskeletonGO:0156299.6NEB, MYOT, CFL2, ACTA1, TPM1, TPM3
9sarcomereGO:0300179.5TPM1, ACTA1, ACTC1, TNNT2, KLHL40
10cytosolGO:0058298.2TNNT2, TNNI2, TNNT1, TNNT3, FLNC, NEB

Biological processes related to Nemaline Myopathy according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle thin filament assemblyGO:03024010.2ACTA1, ACTC1
2regulation of ATPase activityGO:04346210.1TPM2, TNNT3
3regulation of muscle contractionGO:00693710.0TNNT2, TPM1, TPM3
4positive regulation of ATPase activityGO:03278110.0TNNT2, TPM1
5regulation of heart contractionGO:00801610.0TPM1, TNNT2
6skeletal muscle contractionGO:0030099.9TNNI2, TNNT1, TNNT3
7sarcomere organizationGO:0452149.9TPM1, TNNT2
8muscle contractionGO:0069369.7MYOT, ACTA1, TPM1, TPM2, TPM3
9ventricular cardiac muscle tissue morphogenesisGO:0550109.7TPM1, TNNT2
10muscle filament slidingGO:0300498.6TPM3, TNNT2, TNNI2, TNNT1, TNNT3, NEB

Molecular functions related to Nemaline Myopathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:01702210.1ACTA1, ACTC1
2troponin T bindingGO:03101410.1TNNT1, TNNI2
3troponin C bindingGO:03017210.0TNNT3, TNNT2
4tropomyosin bindingGO:0055239.9TNNT2, TNNT1, TNNT3
5structural constituent of muscleGO:0083079.8TPM2, TPM1, MYOT, NEB
6troponin I bindingGO:0310139.8TNNT2, TNNT3
7structural constituent of cytoskeletonGO:0052009.5TPM1, ACTA1, TNNT2
8actin bindingGO:0037798.5TPM3, TNNT2, TNNI2, TNNT3, FLNC, NEB

Products for genes affiliated with Nemaline Myopathy

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Sources for Nemaline Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet