MCID: NML001
MIFTS: 50

Nemaline Myopathy malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Nemaline Myopathy

About this section


Fully expand this MalaCard
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 based summary: 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

About this section

Nemaline Myopathy, Aliases & Descriptions:

Name: Nemaline Myopathy 8 9 19 42 20 22 21 10
Nemaline Body Disease 8 42 21 62
Nemaline Rod Disease 42 21 62
Rod Body Disease 42 21 62
Nemaline Rod Myopathy 19 42
Myopathies, Nemaline 21 62
 
Rod-Body Myopathy 42 21
Rod Myopathy 42 21
Congenital Rod Disease 42
Myopathies Nemaline 44
Myopathy, Nemaline 21


Classifications:

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


External Ids:

Disease Ontology8 DOID:3191
SNOMED-CT57 75072002
MeSH34 D017696

Related Diseases for Nemaline Myopathy

About this section

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
1myopathy31.2TNNT1, TPM2, NEB, ACTA1
2adult-onset nemaline myopathy10.7
3nemaline myopathy 510.6
4nemaline myopathy 3, autosomal dominant or recessive10.6
5hypertrophic cardiomyopathy10.6
6respiratory failure10.6
7severe congenital nemaline myopathy10.6
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
17intranuclear rod myopathy10.4
18hypotonia10.4
19nemaline myopathy 1, autosomal dominant or recessive10.4
20nemaline myopathy 910.4
21nemaline myopathy 8, autosomal recessive10.4
22nemaline myopathy 7, autosomal recessive10.4
23nemaline myopathy 5, amish type10.4
24hiv/aids10.3
25hiv-110.3
26acta1-related nemaline myopathy10.3
27neb-related nemaline myopathy10.3
28tnnt1-related nemaline myopathy10.3
29tpm2-related nemaline myopathy10.3
30tpm3-related nemaline myopathy10.3
31cfl2-related nemaline myopathy10.3
32kbtbd13-related nemaline myopathy10.3
33actin-accumulation myopathy10.3
34nemaline myopathy 2, autosomal recessive10.3
35nemaline myopathy 4, autosomal dominant10.3
36nemaline myopathy 6, autosomal dominant10.3
37intermediate nemaline myopathy10.3
38typical nemaline myopathy10.3
39amyotrophic lateral sclerosis10.1
40muscle disorders10.1
41systemic lupus erythematosus10.1
42temporomandibular ankylosis10.1
43ankylosis10.1
44lateral sclerosis10.1
45werdnig-hoffmann disease10.1
46congenital diaphragmatic hernia10.1
47lupus erythematosus10.1
48neuromuscular disease10.1
49rigid spine syndrome10.1
50dysautonomia10.1

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



Diseases related to nemaline myopathy

Symptoms for Nemaline Myopathy

About this section

Drugs & Therapeutics for Nemaline Myopathy

About this section

Drug clinical trials:

Search ClinicalTrials for Nemaline Myopathy

Search NIH Clinical Center for Nemaline Myopathy

Genetic Tests for Nemaline Myopathy

About this section

Genetic tests related to Nemaline Myopathy:

id Genetic test Affiliating Genes
1 Nemaline Myopathy20 22 TPM3

Anatomical Context for Nemaline Myopathy

About this section

MalaCards organs/tissues related to Nemaline Myopathy:

32
Skeletal muscle, Heart

Animal Models for Nemaline Myopathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Nemaline Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9ACTA1, NEB, TPM3

Publications for Nemaline Myopathy

About this section

Articles related to Nemaline Myopathy:

(show top 50)    (show all 295)
idTitleAuthorsYear
1
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree. (24689076)
2014
2
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy. (25088345)
2014
3
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (25250574)
2014
4
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy. (24447884)
2014
5
Sporadic late-onset nemaline myopathy as a rare cause of slowly progressive muscle weakness with young adult onset. (25381859)
2014
6
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
7
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
8
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. (22442437)
2012
9
Nemaline myopathy-related skeletal muscle I+-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. (23029319)
2012
10
Nemaline myopathy and non-fatal hypertrophic cardiomyopathy caused by a novel ACTA1 E239K mutation. (21570694)
2011
11
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. (22067542)
2011
12
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
13
Nemaline myopathy: clinical, histochemical and immunohistochemical features. (19838523)
2009
14
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. (18565829)
2008
15
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
16
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
17
Skeletal muscle repair in a mouse model of nemaline myopathy. (16877500)
2006
18
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
19
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. (16945537)
2006
20
Hypothyroidism and nemaline myopathy in an adult. (16614046)
2006
21
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
22
Magnetic resonance imaging of muscle in nemaline myopathy. (15564032)
2004
23
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. (15198992)
2004
24
Clinical course correlates poorly with muscle pathology in nemaline myopathy. (12601110)
2003
25
109th ENMC International Workshop: 5th workshop on nemaline myopathy, 11th-13th October 2002, Naarden, The Netherlands. (12899878)
2003
26
Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. (12731651)
2003
27
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
28
Nebulin mutations in autosomal recessive nemaline myopathy: an update. (12207938)
2002
29
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
30
Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy. (11453573)
2001
31
Respiratory failure in nemaline myopathy. (9744641)
1998
32
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
33
Nemaline myopathy in the neonate: two case reports. (8789770)
1996
34
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (7663526)
1995
35
Adult-onset of nemaline myopathy, associated with cores and abnormal mitochondria. (7935532)
1994
36
A new case of severe congenital nemaline myopathy. (8155933)
1993
37
Fiber type disproportion in nemaline myopathy. (2804774)
1989
38
Progression in nemaline myopathy. (2683560)
1989
39
Congenital nemaline myopathy. A clinical follow-up of twelve patients. (2926439)
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 long-term clinicopathologic study of affected mother and daughter. (5939042)
1966
50
NEMALINE MYOPATHY; A SECOND CASE. (14147679)
1964

Variations for Nemaline Myopathy

About this section

Expression for genes affiliated with Nemaline Myopathy

About this section
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

About this section

Pathways related to Nemaline Myopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2TPM2, TPM3
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.2TPM2, TPM3
39.2TPM3, TPM2
4
Show member pathways
7.5TNNT1, TPM2, TPM3, NEB, ACTA1

Compounds for genes affiliated with Nemaline Myopathy

About this section
Sources:
44Novoseek, 50PharmGKB, 24HMDB, 11DrugBank
See all sources

Compounds related to Nemaline Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actomyosin449.4NEB, TNNT1
2calcium44 50 24 1110.2ACTA1, NEB, TPM3, TPM2, TNNT1

GO Terms for genes affiliated with Nemaline Myopathy

About this section

Cellular components related to Nemaline Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:0017259.3ACTA1, TPM3
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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Nemaline Myopathy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet