MCID: NML001
MIFTS: 46

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 11 23 47 24 25 12 13
Nemaline Body Disease 11 47 25 26
Nemaline Rod Myopathy 11 23 47 24
Myopathies, Nemaline 25 38 67
Rod Myopathy 11 47 25
Nemaline Rod Disease 47 25
 
Myopathy, Nemaline 25 26
Rod-Body Myopathy 47 25
Rod Body Disease 47 25
Congenital Rod Disease 47
Myopathies Nemaline 49
Nm 47

Characteristics:

GeneReviews:

23
Penetrance: data are insufficient to draw conclusions about penetrance in dominant (acta1-, tpm3-, tpm2-, and kbtbd13-related) forms of nm...


Classifications:



External Ids:

Disease Ontology11 DOID:3191
ICD1029 G71.2
SNOMED-CT61 75072002
MeSH38 D017696

Summaries for Nemaline Myopathy

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Genetics Home Reference:25 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; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. 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 based summary: Nemaline Myopathy, also known as nemaline body disease, is related to nemaline myopathy 1, autosomal dominant or recessive and nemaline myopathy 3, autosomal dominant or recessive. 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 and heart, and related mouse phenotype muscle.

Disease Ontology:11 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.

Wikipedia:70 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary... more...

GeneReviews 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
Acta1-Related Nemaline Myopathy Cfl2-Related Nemaline Myopathy
Kbtbd13-Related Nemaline Myopathy Klhl40-Related Nemaline Myopathy
Klhl41-Related Nemaline Myopathy Lmod3-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 68)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy 1, autosomal dominant or recessive33.5ACTA1, TPM3
2nemaline myopathy 3, autosomal dominant or recessive12.4
3nemaline myopathy 5, amish type12.4
4nemaline myopathy 7, autosomal recessive12.3
5nemaline myopathy 4, autosomal dominant12.3
6nemaline myopathy 2, autosomal recessive12.3
7nemaline myopathy 912.3
8nemaline myopathy 8, autosomal recessive12.3
9nemaline myopathy 1012.3
10nemaline myopathy 6, autosomal dominant12.2
11childhood-onset nemaline myopathy12.1
12adult-onset nemaline myopathy12.1
13severe congenital nemaline myopathy12.0
14klhl40-related nemaline myopathy12.0
15tnnt1-related nemaline myopathy12.0
16intermediate congenital nemaline myopathy11.9
17typical congenital nemaline myopathy11.9
18acta1-related nemaline myopathy11.9
19cfl2-related nemaline myopathy11.9
20kbtbd13-related nemaline myopathy11.9
21klhl41-related nemaline myopathy11.9
22neb-related nemaline myopathy11.9
23tpm2-related nemaline myopathy11.9
24tpm3-related nemaline myopathy11.9
25lmod3-related nemaline myopathy11.9
26klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism11.6
27intranuclear rod myopathy11.2
28myopathy11.1
29actin-accumulation myopathy11.0
30cardiomyopathy10.4
31respiratory failure10.2
32myopathy, congenital, with fiber-type disproportion10.1ACTA1, TPM3
33dilated cardiomyopathy10.1
34congenital myopathy10.0
35hypothyroidism10.0
36hypotonia10.0
37systemic capillary leak syndrome9.9ACTA1, TPM2, TPM3
38headache9.9ACTA1, NEB
39microcephaly and chorioretinopathy 19.9ACTA1, TPM2, TPM3
40systemic lupus erythematosus9.8
41multiple myeloma9.8
42gastroesophageal reflux9.8
43central core disease9.8
44escobar syndrome9.8
45muscle disorders9.8
46myasthenia gravis9.8
47temporomandibular ankylosis9.8
48cardiac arrest9.8
49pneumothorax9.8
50ankylosis9.8

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 2659

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of TNNT1-Myopathy With L-Tyrosine.Unknown statusNCT02035501Phase 2
2Molecular and Genetic Studies of Congenital MyopathiesRecruitingNCT00272883
3Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

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 Myopathy26 24 TPM3
2 Nemaline Bodies26

Anatomical Context for Nemaline Myopathy

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MalaCards organs/tissues related to Nemaline Myopathy:

35
Skeletal muscle, Heart

Animal Models for Nemaline Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Nemaline Myopathy:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.0ACTA1, CFL2, KLHL40, LMOD3, NEB, TNNT1

Publications for Nemaline Myopathy

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Articles related to Nemaline Myopathy:

(show top 50)    (show all 330)
idTitleAuthorsYear
1
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. (26891371)
2016
2
Biphasic cuirass ventilation for treatment of an air leak after pneumothorax in a patient with nemaline myopathy: a case report. (27644222)
2016
3
Autologous stem cell transplantation in a patient with sporadic late-onset nemaline myopathy and monoclonal gammopathy: First Moroccan experience. (27818064)
2016
4
Identification of a novel nemaline myopathy-Causing mutation in the troponin T1 (TNNT1) gene: A case outside of the old order amish. (25430424)
2015
5
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25654555)
2015
6
LMOD3: the "missing link" in nemaline myopathy? (26337340)
2015
7
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
8
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. (25088345)
2014
9
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25250574)
2014
10
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. (25381859)
2014
11
Sporadic late-onset nemaline myopathy with MGUS: Long-term follow-up after melphalan and SCT. (25378674)
2014
12
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
13
Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy. (23656990)
2013
14
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
15
Nemaline myopathy-related skeletal muscle I+-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. (23029319)
2012
16
Nemaline myopathy and pregnancy: a challenge indeed. (23135035)
2012
17
Decreased fetal movement prompts investigation of prenatal/neonatal nemaline myopathy: the possible merit of fetal movement count. (21395907)
2011
18
Adult nemaline myopathy with trabecular muscle fibers. (19229965)
2009
19
Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. (19208402)
2009
20
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. (18565829)
2008
21
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
22
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
23
Skeletal muscle repair in a mouse model of nemaline myopathy. (16877500)
2006
24
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
25
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. (16945537)
2006
26
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
27
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy. (15665378)
2005
28
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (15198992)
2004
29
Clinical course correlates poorly with muscle pathology in nemaline myopathy. (12601110)
2003
30
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. (12731651)
2003
31
Delayed onset of nemaline myopathy: a case report. (12875706)
2003
32
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
33
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
34
Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy. (11453573)
2001
35
Respiratory failure in nemaline myopathy. (9744641)
1998
36
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
37
Nemaline myopathy in the neonate: two case reports. (8789770)
1996
38
Congenital nemaline myopathy. A clinical follow-up of twelve patients. (2926439)
1989
39
Pathology of congenital nemaline myopathy. A follow-up study. (3356991)
1988
40
Early fatal nemaline myopathy: case report and review. (2826279)
1987
41
Nemaline myopathy in an adult with primary hypothyroidism. (3719466)
1986
42
Nemaline myopathy. Evidence of dipeptidyl peptidase I deficiency. (3942512)
1986
43
Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. (6703949)
1984
44
Nemaline myopathy presenting as cardiomyopathy. (6855830)
1983
45
Nemaline myopathy rod bodies. Structure and composition. (6754876)
1982
46
Nemaline myopathy and a mitochondrial neuromuscular disorder in one family. (6267500)
1981
47
A case of nemaline myopathy with ophthalmoplegia and mitochondrial abnormalities. (6247453)
1980
48
Nemaline myopathy. (506794)
1979
49
Nemaline myopathy. A fatal case. (4378108)
1967
50
Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. (5939042)
1966

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.

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:00017259.9ACTA1, TPM3
3striated muscle thin filamentGO:00058659.8ACTA1, LMOD3
4I bandGO:00316749.7CFL2, KLHL40
5A bandGO:00316729.6KLHL40, LMOD3
6M bandGO:00314309.5KLHL41, LMOD3
7actin cytoskeletonGO:00156299.3ACTA1, CFL2, NEB
8Cul3-RING ubiquitin ligase complexGO:00314639.2KBTBD13, KLHL40, KLHL41

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sarcomere organizationGO:004521410.1CFL2, KLHL41
2myofibril assemblyGO:00302399.8KLHL41, LMOD3
3actin filament organizationGO:00070159.2CFL2, LMOD3
4protein ubiquitinationGO:00165679.2KBTBD13, KLHL40, KLHL41
5skeletal muscle fiber developmentGO:00487419.1ACTA1, KLHL40, KLHL41
6muscle contractionGO:00069368.7ACTA1, LMOD3, TPM2, TPM3
7muscle filament slidingGO:00300498.3ACTA1, NEB, TNNT1, TPM2, TPM3

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

idNameGO IDScoreTop Affiliating Genes
1tropomyosin bindingGO:00055239.6LMOD3, TNNT1
2structural constituent of muscleGO:00083079.4NEB, TPM2
3actin bindingGO:00037799.4NEB, TPM2, TPM3
4ubiquitin-protein transferase activityGO:00048429.2KBTBD13, KLHL40, KLHL41

Sources for Nemaline Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet