MCID: NML001
MIFTS: 45

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 10 11 21 45 22 23 12
Nemaline Rod Myopathy 10 21 45 22
Nemaline Body Disease 10 45 23
Myopathies, Nemaline 23 36 65
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
Nm 45

Classifications:



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Disease Ontology10 DOID:3191
ICD1027 G71.2
SNOMED-CT59 75072002
MeSH36 D017696
UMLS65 C0206157

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 nemaline myopathy 5, amish type. 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, breast and brain, and related mouse phenotype muscle.

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 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
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 72)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy 1, autosomal dominant or recessive33.8ACTA1, TPM3
2nemaline myopathy 5, amish type12.4
3nemaline myopathy 3, autosomal dominant or recessive12.3
4nemaline myopathy 7, autosomal recessive12.3
5nemaline myopathy 2, autosomal recessive12.3
6nemaline myopathy 4, autosomal dominant12.3
7nemaline myopathy 6, autosomal dominant12.2
8childhood-onset nemaline myopathy12.2
9nemaline myopathy 912.2
10nemaline myopathy 8, autosomal recessive12.2
11nemaline myopathy 1012.2
12adult-onset nemaline myopathy12.2
13severe congenital nemaline myopathy12.2
14klhl40-related nemaline myopathy12.1
15tnnt1-related nemaline myopathy12.1
16intermediate congenital nemaline myopathy12.1
17typical congenital nemaline myopathy12.1
18acta1-related nemaline myopathy12.1
19cfl2-related nemaline myopathy12.1
20kbtbd13-related nemaline myopathy12.1
21klhl41-related nemaline myopathy12.1
22neb-related nemaline myopathy12.1
23tpm2-related nemaline myopathy12.1
24tpm3-related nemaline myopathy12.1
25intranuclear rod myopathy11.3
26myopathy11.2
27actin-accumulation myopathy11.1
28cardiomyopathy10.5
29respiratory failure10.3
30hypertrophic cardiomyopathy10.3
31myopathy, congenital, with fiber-type disproportion10.2ACTA1, TPM3
32dilated cardiomyopathy10.2
33atelosteogenesis10.2ACTA1, TPM2
34bone angioendothelial sarcoma10.2TPM2, TPM3
35hypothyroidism10.2
36ophthalmoplegia10.2
37hypotonia10.2
38hereditary renal cell carcinoma10.1TPM2, TPM3
39congenital myopathy10.1
40ductal carcinoma in situ10.0TPM2, TPM3
41carbon baby syndrome10.0ACTA1, TPM2, TPM3
42intermediate severe salla disease10.0ACTA1, NEB, TPM3
43cylindrical spirals myopathy10.0ACTA1, TPM2, TPM3
44systemic lupus erythematosus9.9
45multiple myeloma9.9
46gastroesophageal reflux9.9
47central core disease9.9
48escobar syndrome9.9
49muscle disorders9.9
50myasthenia gravis9.9

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 2596

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of TNNT1-Myopathy With L-Tyrosine.Enrolling by invitationNCT02035501Phase 2
2Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402
3Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883

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 TPM3

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

33
Skeletal muscle, Breast, Brain, Heart, Prostate, T cells, Ovary

Animal Models for Nemaline Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Nemaline Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.6ACTA1, CFL2, LMOD3, NEB, TNNT1, TPM3

Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50)    (show all 322)
idTitleAuthorsYear
1
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. (26891371)
2016
2
Sudden cardiac arrest in a child with nemaline myopathy. (25888334)
2015
3
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. (25430424)
2015
4
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy. (26123491)
2015
5
Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state. (25721947)
2015
6
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
7
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. (25088345)
2014
8
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25250574)
2014
9
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. (24447884)
2014
10
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. (25381859)
2014
11
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
12
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
13
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. (22442437)
2012
14
Nemaline myopathy-related skeletal muscle I+-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. (23029319)
2012
15
Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. (21570694)
2011
16
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. (22067542)
2011
17
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
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
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
30
Nebulin mutations in autosomal recessive nemaline myopathy: an update. (12207938)
2002
31
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
32
Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy. (11453573)
2001
33
Respiratory failure in nemaline myopathy. (9744641)
1998
34
Nemaline myopathy in the neonate: two case reports. (8789770)
1996
35
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (7663526)
1995
36
Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria. (7935532)
1994
37
A new case of severe congenital nemaline myopathy. (8155933)
1993
38
Fiber type disproportion in nemaline myopathy. (2804774)
1989
39
Progression in nemaline myopathy. (2683560)
1989
40
Pathology of congenital nemaline myopathy. A follow-up study. (3356991)
1988
41
Early fatal nemaline myopathy: case report and review. (2826279)
1987
42
Nemaline myopathy in an adult with primary hypothyroidism. (3719466)
1986
43
Nemaline myopathy with associated cardiomyopathy. Report of clinical and detailed autopsy findings. (4051839)
1985
44
Nemaline myopathy rod bodies. Structure and composition. (6754876)
1982
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 SECOND CASE. (14147679)
1964
50

Variations for Nemaline Myopathy

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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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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
1stress fiberGO:00017259.9ACTA1, TPM3
2I bandGO:00316749.4CFL2, KLHL40

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.3ACTA1, 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