MCID: NML001
MIFTS: 49

Nemaline Myopathy malady

Summaries for Nemaline Myopathy

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Nemaline Myopathy, also known as nemaline body disease, is related to myopathy 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 skeletal muscle and heart, and related mouse phenotype muscle.

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.

Wikipedia:63 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews summary for nem

Aliases & Classifications for Nemaline Myopathy

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 60UMLS, 44Novoseek, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

nemaline myopathy 8 9 19 42 20 22 21 10
nemaline body disease 8 42 21
nemaline rod myopathy 19 42
myopathies, nemaline 21 60
nemaline rod disease 42 21
rod body disease 42 21
congenital rod disease 42
myopathies nemaline 44
myopathy, nemaline 21
rod-body myopathy 21
rod myopathy 21


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Disease Ontology8 DOID:3191
SNOMED-CT56 75072002
MeSH34 D017696

Related Diseases for Nemaline Myopathy

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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
Acta1-Related Nemaline Myopathy Neb-Related Nemaline Myopathy
Tnnt1-Related Nemaline Myopathy Tpm2-Related Nemaline Myopathy
Tpm3-Related Nemaline Myopathy Cfl2-Related Nemaline Myopathy
Kbtbd13-Related Nemaline Myopathy 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 65)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.9TPM2, TPM1, ACTA1, MYOT, NEB, FLNC
2hypertrophic cardiomyopathy30.7TNNT2, ACTC1, TPM1, TPM3
3dilated cardiomyopathy30.5TPM1, ACTC1, TNNT2
4central core myopathy30.1MYOT, NEB
5myofibrillar myopathy30.1MYOT, FLNC
6nemaline myopathy 3, autosomal dominant or recessive10.6
7nemaline myopathy 510.5
8respiratory failure10.5
9nemaline myopathy 110.4
10nemaline myopathy 210.4
11nemaline myopathy 310.4
12nemaline myopathy 410.4
13nemaline myopathy 610.4
14childhood-onset nemaline myopathy10.4
15hypothyroidism10.3
16ophthalmoplegia10.3
17acta1-related nemaline myopathy10.3
18neb-related nemaline myopathy10.3
19tnnt1-related nemaline myopathy10.3
20tpm2-related nemaline myopathy10.3
21tpm3-related nemaline myopathy10.3
22cfl2-related nemaline myopathy10.3
23kbtbd13-related nemaline myopathy10.3
24nemaline myopathy 1, autosomal dominant or recessive10.3
25nemaline myopathy 2, autosomal recessive10.3
26nemaline myopathy 8, autosomal recessive10.3
27nemaline myopathy 7, autosomal recessive10.3
28adult-onset nemaline myopathy10.3
29charcot-marie-tooth disease10.3
30tooth disease10.3
31actin-accumulation myopathy10.2
32nemaline myopathy 4, autosomal dominant10.2
33nemaline myopathy 6, autosomal dominant10.2
34nemaline myopathy 5, amish type10.2
35severe congenital nemaline myopathy10.2
36intermediate nemaline myopathy10.2
37typical nemaline myopathy10.2
38werdnig-hoffmann disease10.1
39lateral sclerosis10.1
40ankylosis10.1
41systemic lupus erythematosus10.1
42congenital diaphragmatic hernia10.1
43amyotrophic lateral sclerosis10.1
44autosomal dominant disease10.1
45congenital structural myopathy10.1
46lupus erythematosus10.1
47neuromuscular disease10.1
48mitochondrial disorders10.1
49rod myopathy10.1
50intranuclear rod myopathy10.1

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



Diseases related to nemaline myopathy

Clinical Features for Nemaline Myopathy

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Drugs & Therapeutics for Nemaline Myopathy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Nemaline Myopathy

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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

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32MalaCards
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MalaCards organs/tissues related to Nemaline Myopathy:

32
Skeletal muscle, Heart

Animal Models for Nemaline Myopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Nemaline Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.2ACTA1, ACTC1, CFL2, NEB, FLNC, TNNT2

Publications for Nemaline Myopathy

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50PubMed
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Articles related to Nemaline Myopathy:

(show top 50)    (show all 305)
idTitleAuthorsYear
1
Recent advances in nemaline myopathy. (23995272)
2013
2
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. (23378224)
2013
3
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy. (22367672)
2012
4
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. (22067542)
2011
5
Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy. (21072530)
2011
6
Inspiratory muscle training in a child with nemaline myopathy and organ transplantation. (20407395)
2011
7
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
8
Sporadic late onset nemaline myopathy responsive to IVIg and immunotherapy. (19852026)
2010
9
Chemotherapy is successful in sporadic late onset nemaline myopathy (SLONM) with monoclonal gammopathy. (19918772)
2010
10
Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. (19959667)
2009
11
161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008. (19264483)
2009
12
A "nema" of hope in the treatment of late-onset nemaline myopathy. (18695157)
2008
13
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
14
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. (17160903)
2007
15
Skeletal muscle repair in a mouse model of nemaline myopathy. (16877500)
2006
16
Intranuclear nemaline rod myopathy. (16477620)
2006
17
Hypothyroidism and nemaline myopathy in an adult. (16614046)
2006
18
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (16917880)
2006
19
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. (15562513)
2005
20
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. (15665378)
2005
21
Management of facial dysmorphogenesis in nemaline myopathy: a case report. (15952552)
2005
22
Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism. (15367485)
2004
23
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. (15336686)
2004
24
Nemaline myopathy and cardiomyopathy. (10328285)
1999
25
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. (10587521)
1999
26
Nemaline myopathy with severe neonatal hypotonia and total ophthalmoplegia: a case report. (9627881)
1998
27
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. (9321754)
1997
28
Respiratory failure in nemaline myopathy. (9258972)
1997
29
40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands. (8938704)
1996
30
Progressive nemaline (rod) myopathy as a presentation of human immunodeficiency virus infection. (1316119)
1992
31
Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. (2712935)
1989
32
Pathology of congenital nemaline myopathy. A follow-up study. (3356991)
1988
33
Gastroesophageal reflux associated with nemaline myopathy of infancy. (3336576)
1988
34
Early fatal nemaline myopathy: case report and review. (2826279)
1987
35
Nemaline myopathy of cats. (2945105)
1986
36
Nemaline myopathy as a cause of sleep hypoventilation. (3081871)
1986
37
Fast to slow change of myosin in nemaline rod myopathy. (6684269)
1983
38
Nemaline myopathy presenting as cardiomyopathy. (6855830)
1983
39
Neuromuscular blockade in a patient with nemaline myopathy. (6316815)
1983
40
A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. (6247453)
1980
41
Nemaline myopathy associated with consanguinity. (7228590)
1980
42
Investigations on the inheritance of nemaline myopathy. (623532)
1978
43
Nemaline (neuro) myopathy. Rod-like bodies and type I fibre atrophy in a case of congenital hypotonia with denervation. (4341505)
1972
44
Nemaline myopathy. A fatal case. (4378108)
1967
45
Nemaline myopathy. (4862518)
1967
46
Nemaline myopathy. A histopathologic and histochemical study. (4165764)
1967
47
Pathology of nemaline myopathy. Studies of two adult cases including an autopsy. (6022129)
1967
48
HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY. (14315666)
1965
49
New evidence for excessive accumulation of Z-band material in nemaline myopathy. (5218258)
1965
50
NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY. (14090530)
1963

Genetic Variations for Nemaline Myopathy

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Expression for genes affiliated with Nemaline Myopathy

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

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Pathways for genes affiliated with Nemaline Myopathy

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12EMD Millipore, 29KEGG, 4Cell Signaling Technology, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Nemaline Myopathy

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank
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Compounds related to Nemaline Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin449.6TNNT1, NEB, ACTC1
2glycogen44 2410.6AASS, ACTC1, NEB, TNNT2
3calcium44 49 11 249.7TPM3, TNNT2, TNNI2, TNNT1, TNNT3, FLNC

GO Terms for genes affiliated with Nemaline Myopathy

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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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