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
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. (24095155)
2013
2
Mutations in the nebulin gene in a child with nemaline (rod) myopathy. (22941215)
2013
3
Nemaline myopathy with dilated cardiomyopathy in childhood. (23650303)
2013
4
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. (22442437)
2012
5
Decreased fetal movement prompts investigation of prenatal/neonatal nemaline myopathy: the possible merit of fetal movement count. (21395907)
2011
6
HIV-related neuromuscular diseases: nemaline myopathy, amyotrophic lateral sclerosis and bibrachial amyotrophic diplegia. (21842590)
2011
7
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. (21724397)
2011
8
Clinical heterogeneity in Korean patients with nemaline myopathy. (20191014)
2010
9
Nemaline myopathy: clinical, histochemical and immunohistochemical features. (19838523)
2009
10
Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy. (19418233)
2009
11
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. (19346529)
2009
12
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). (18461503)
2007
13
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
14
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). (16945536)
2006
15
Magnetic resonance imaging of muscle in nemaline myopathy. (15564032)
2004
16
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. (15221447)
2004
17
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha- actin gene mutations. (15236405)
2004
18
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). (15221331)
2004
19
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. (12677001)
2003
20
Quadriceps weakness in a family with nemaline myopathy: influence of knee angle. (12848616)
2003
21
Lack of the C-terminal domain of nebulin in a patient with nemaline myopathy. (11994971)
2002
22
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. (12196661)
2002
23
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. (12207937)
2002
24
Nebulin expression in patients with nemaline myopathy. (11257471)
2001
25
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. (10952871)
2000
26
Nebulin is normally expressed in nemaline myopathy. (10334479)
1999
27
Severe congenital nemaline myopathy: a personal perspective. (9526359)
1998
28
Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association. (7580249)
1995
29
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. (8580725)
1995
30
Two siblings with nemaline myopathy presenting with rigid spine syndrome. (7919974)
1994
31
Neonatal nemaline myopathy with abundant intranuclear rods. (7881297)
1994
32
A new case of severe congenital nemaline myopathy. (8155933)
1993
33
Severe neonatal nemaline myopathy--histological and histochemical studies of respiratory muscles. (1621519)
1992
34
Unusual course of nemaline myopathy. (1300189)
1992
35
Alpha-actinin and myosin light chains in congenital nemaline myopathy. (2360957)
1990
36
Immunochemical analysis of alpha-actinin of nemaline myopathy after two-dimensional electrophoresis. (2592984)
1989
37
Survival from symptomatic nemaline myopathy in the newborn period. (3438219)
1987
38
Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. (3819745)
1987
39
Slow myosin heavy chain isozyme in nemaline myopathy. (4022386)
1985
40
Nemaline myopathy--case report. (6586985)
1984
41
Congenital nemaline myopathy. I. Defective organization of alpha-actinin is restricted to muscle. (6302502)
1983
42
Fetal muscle characteristics in nemaline myopathy. (6682187)
1983
43
Nemaline myopathy in the neonate. (6681881)
1983
44
Familial nemaline myopathy. (6296713)
1982
45
Nemaline myopathy and a mitochondrial neuromuscular disorder in one family. (6267500)
1981
46
Atypical nemaline myopathy with temporomandibular ankylosis. (7191540)
1980
47
Nemaline (rod) myopathy: the need for histochemical evaluation of affected families. (697323)
1978
48
Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease. (570661)
1978
49
Nemaline myopathy. I. Histochemical study. (4179485)
1968
50
NEMALINE MYOPATHY; A SECOND CASE. (14147679)
1964

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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44Novoseek
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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