MCID: NML001
MIFTS: 49

Nemaline Myopathy malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories
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Summaries for Nemaline Myopathy

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 adult-onset nemaline myopathy. An important gene associated with Nemaline Myopathy is TPM3 (tropomyosin 3), and among its related pathways are Adrenergic signaling in cardiomyocytes and Hypertrophic cardiomyopathy (HCM). The compounds actomyosin and calcium 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:65 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, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 62UMLS, 45Novoseek, 35MeSH, 58SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases, Neuronal diseases


Aliases & Descriptions:

nemaline myopathy 8 9 19 43 20 22 21 10
nemaline body disease 8 43 21
nemaline rod myopathy 19 43
myopathies, nemaline 21 62
nemaline rod disease 43 21
rod-body myopathy 43 21
rod body disease 43 21
rod myopathy 43 21
congenital rod disease 43
myopathies nemaline 45
myopathy, nemaline 21


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Disease Ontology8 DOID:3191
SNOMED-CT58 75072002
MeSH35 D017696

Related Diseases for Nemaline Myopathy

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

Nemaline Myopathy 1 Nemaline Myopathy 2
Nemaline Myopathy 3 Nemaline Myopathy 4
Nemaline Myopathy 5 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 Nemaline Myopathy 9
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 57)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy31.8TNNT1, TPM2, NEB, ACTA1
2adult-onset nemaline myopathy10.7
3nemaline myopathy 3, autosomal dominant or recessive10.6
4nemaline myopathy 510.6
5hypertrophic cardiomyopathy10.5
6respiratory failure10.5
7severe congenital nemaline myopathy10.5
8nemaline myopathy 110.5
9nemaline myopathy 210.5
10nemaline myopathy 310.5
11nemaline myopathy 410.5
12childhood-onset nemaline myopathy10.5
13dilated cardiomyopathy10.4
14nemaline myopathy 610.4
15hypothyroidism10.4
16ophthalmoplegia10.4
17acta1-related nemaline myopathy10.4
18neb-related nemaline myopathy10.4
19tnnt1-related nemaline myopathy10.4
20tpm2-related nemaline myopathy10.4
21tpm3-related nemaline myopathy10.4
22cfl2-related nemaline myopathy10.4
23hypotonia10.4
24nemaline myopathy 1, autosomal dominant or recessive10.4
25nemaline myopathy 2, autosomal recessive10.4
26nemaline myopathy 910.4
27nemaline myopathy 8, autosomal recessive10.4
28nemaline myopathy 7, autosomal recessive10.4
29charcot-marie-tooth disease10.3
30tooth disease10.3
31hiv-110.3
32hiv/aids10.3
33actin-accumulation myopathy10.3
34intranuclear rod myopathy10.3
35nemaline myopathy 4, autosomal dominant10.3
36nemaline myopathy 6, autosomal dominant10.3
37nemaline myopathy 5, amish type10.3
38intermediate nemaline myopathy10.3
39typical nemaline myopathy10.3
40ankylosis10.1
41lateral sclerosis10.1
42systemic lupus erythematosus10.1
43congenital diaphragmatic hernia10.1
44werdnig-hoffmann disease10.1
45amyotrophic lateral sclerosis10.1
46lupus erythematosus10.1
47neuromuscular disease10.1
48rigid spine syndrome10.1
49temporomandibular ankylosis10.1
50dysautonomia10.1

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Nemaline Myopathy

Search NIH Clinical Center for Nemaline Myopathy

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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33MalaCards
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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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37MGI
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MGI Mouse Phenotypes related to Nemaline Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9ACTA1, NEB, TPM3

Publications for Nemaline Myopathy

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52PubMed
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Articles related to Nemaline Myopathy:

(show top 50)    (show all 281)
idTitleAuthorsYear
1
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
2
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
3
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. (22442437)
2012
4
Nemaline myopathy-related skeletal muscle I+-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. (23029319)
2012
5
Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. (21570694)
2011
6
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. (22067542)
2011
7
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
8
Nemaline myopathy: clinical, histochemical and immunohistochemical features. (19838523)
2009
9
Adult nemaline myopathy with trabecular muscle fibers. (19229965)
2009
10
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. (18565829)
2008
11
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
12
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
13
Skeletal muscle repair in a mouse model of nemaline myopathy. (16877500)
2006
14
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
15
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. (16945537)
2006
16
Hypothyroidism and nemaline myopathy in an adult. (16614046)
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
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. (15562513)
2005
19
Magnetic resonance imaging of muscle in nemaline myopathy. (15564032)
2004
20
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (15198992)
2004
21
Clinical course correlates poorly with muscle pathology in nemaline myopathy. (12601110)
2003
22
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. (12899878)
2003
23
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. (12731651)
2003
24
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
25
Nebulin mutations in autosomal recessive nemaline myopathy: an update. (12207938)
2002
26
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
27
Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy. (11453573)
2001
28
Respiratory failure in nemaline myopathy. (9744641)
1998
29
Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy. (9484391)
1998
30
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
31
Nemaline myopathy in the neonate: two case reports. (8789770)
1996
32
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (7663526)
1995
33
Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria. (7935532)
1994
34
A new case of severe congenital nemaline myopathy. (8155933)
1993
35
Fiber type disproportion in nemaline myopathy. (2804774)
1989
36
Progression in nemaline myopathy. (2683560)
1989
37
Congenital nemaline myopathy. A clinical follow-up of twelve patients. (2926439)
1989
38
Pathology of congenital nemaline myopathy. A follow-up study. (3356991)
1988
39
Early fatal nemaline myopathy: case report and review. (2826279)
1987
40
Nemaline myopathy in an adult with primary hypothyroidism. (3719466)
1986
41
Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings. (4051839)
1985
42
Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. (6703949)
1984
43
Nemaline myopathy rod bodies. Structure and composition. (6754876)
1982
44
A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. (6247453)
1980
45
Nemaline myopathy. (506794)
1979
46
A new concept of childhood nemaline myopathy. (4251331)
1971
47
Nemaline myopathy. I. Histochemical study. (4179485)
1968
48
Nemaline myopathy. A fatal case. (4378108)
1967
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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Expression for genes affiliated with Nemaline Myopathy

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2BioGPS, 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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome
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Pathways related to Nemaline Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2TPM3, TPM2
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.2TPM3, TPM2
39.2TPM2, TPM3
4
Show member pathways
7.5ACTA1, NEB, TPM3, TPM2, TNNT1

Compounds for genes affiliated with Nemaline Myopathy

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45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Nemaline Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin459.4NEB, TNNT1
2calcium45 51 24 1110.2ACTA1, NEB, TPM3, TPM2, TNNT1

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
1stress fiberGO:0017259.3TPM3, ACTA1
2muscle thin filament tropomyosinGO:0058629.3TPM3, TPM2
3actin cytoskeletonGO:0156299.0ACTA1, NEB
4extracellular vesicular exosomeGO:0700628.9ACTA1, NEB, TPM3
5cytosolGO:0058297.5ACTA1, NEB, TPM3, TPM2, TNNT1

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069368.6ACTA1, TPM3, TPM2
2muscle filament slidingGO:0300497.2ACTA1, NEB, TPM3, TPM2, TNNT1

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.1NEB, TPM2
2actin bindingGO:0037798.4NEB, TPM3, TPM2

Products for genes affiliated with Nemaline Myopathy

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Sources for Nemaline Myopathy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet