MCID: CHL107
MIFTS: 33

Childhood-Onset Nemaline Myopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Childhood-Onset Nemaline Myopathy

MalaCards integrated aliases for Childhood-Onset Nemaline Myopathy:

Name: Childhood-Onset Nemaline Myopathy 52 58
Mild Nemaline Myopathy 52 58
Nemaline Myopathy, Childhood Onset 71

Characteristics:

Orphanet epidemiological data:

58
childhood-onset nemaline myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Childhood-Onset Nemaline Myopathy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 171439 Definition Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. Epidemiology The annual incidence of NM has been estimated at 1/50,000 live births. Clinical description Childhood onset NM might represent 10-15% of total cases. Onset is around 10 years of age, with initial presentation of symmetric weakness of ankle dorsiflexion and foot drop, or a general slowness of muscle contraction. All movements at the ankle and more proximal limb muscles may be disturbed. Weakness is slowly progressive. Facial, respiratory and cardiac muscles are generally normal, but patients are unable to jump or run because of muscle weakness or slowness. Etiology This form of NM is caused by mutations in the ACTA1 (1q42.13), NEB (2q22), TPM2 (9p13.3) or TPM3 (1q21.2) genes , and its transmission follows an autosomal dominant pattern. Visit the Orphanet disease page for more resources.

MalaCards based summary : Childhood-Onset Nemaline Myopathy, also known as mild nemaline myopathy, is related to myopathy, congenital and nemaline myopathy. An important gene associated with Childhood-Onset Nemaline Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways are Cardiac conduction and Cardiac muscle contraction. Related phenotypes are emg: myopathic abnormalities and nemaline bodies

Related Diseases for Childhood-Onset Nemaline Myopathy

Diseases related to Childhood-Onset Nemaline Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 29.7 TPM3 NEB ACTA1
2 nemaline myopathy 28.7 TPM3 TPM2 NEB KLHL41 ACTA1
3 myopathy 27.6 TPM3 TPM2 NEB MYPN KLHL41 KBTBD13
4 autoimmune disease 10.2
5 hypotonia 10.2
6 nemaline myopathy 1 10.1 TPM3 KBTBD13
7 nemaline myopathy 9 10.0 KLHL41 KBTBD13
8 nemaline myopathy 11, autosomal recessive 10.0 MYPN KBTBD13
9 foot drop 10.0 NEB ACTA1
10 myopathy, congenital, with fiber-type disproportion 9.9 TPM3 ACTA1
11 myopathy, myofibrillar, 4 9.8 NEB MYPN
12 myopathy, spheroid body 9.8 NEB MYPN
13 endocardial fibroelastosis 9.7 NEB MYPN
14 myopathy, myofibrillar, 1 9.7 NEB MYPN
15 restrictive cardiomyopathy 9.7 MYPN ACTA1
16 snail allergy 9.7 TPM3 TPM2
17 crab allergy 9.7 TPM3 TPM2
18 nemaline myopathy 10 9.7 MYPN KLHL41 KBTBD13
19 crustacean allergy 9.7 TPM3 TPM2
20 central core myopathy 9.7 NEB KBTBD13 ACTA1
21 shrimp allergy 9.7 TPM3 TPM2
22 severe congenital nemaline myopathy 9.7 NEB KLHL41 ACTA1
23 melon allergy 9.6 TPM3 TPM2
24 hyaline body myopathy 9.6 TPM3 NEB ACTA1
25 myofibrillar myopathy 9.6 NEB MYPN ACTA1
26 nemaline myopathy 4 9.5 TPM2 KLHL41 KBTBD13
27 myopathy, centronuclear, 2 9.5 TPM3 TPM2
28 arthrogryposis, distal, type 1a 9.4 TPM3 TPM2 ACTA1
29 multiple pterygium syndrome, escobar variant 9.3 TPM2 NEB KLHL41
30 intermediate congenital nemaline myopathy 9.3 TPM3 NEB KLHL41 ACTA1
31 nemaline myopathy 2 9.3 NEB MYPN KLHL41 KBTBD13
32 distal arthrogryposis 9.3 TPM2 NEB ACTA1
33 myopathy, centronuclear, 1 9.2 TPM3 TPM2
34 cap myopathy 9.1 TPM3 TPM2 MYPN ACTA1
35 centronuclear myopathy 9.1 TPM2 NEB KBTBD13 ACTA1
36 typical congenital nemaline myopathy 9.1 TPM2 NEB KLHL41 ACTA1
37 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.0 TPM3 TPM2 NEB ACTA1
38 nemaline myopathy 3 9.0 NEB MYPN KLHL41 KBTBD13 ACTA1
39 hypertrophic cardiomyopathy 9.0 TPM3 TPM2 MYPN ACTA1
40 dilated cardiomyopathy 8.8 TPM3 TPM2 MYPN ACTA1
41 congenital fiber-type disproportion 8.4 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
42 congenital structural myopathy 8.0 TPM3 TPM2 NEB MYPN KLHL41 KBTBD13

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



Diseases related to Childhood-Onset Nemaline Myopathy

Symptoms & Phenotypes for Childhood-Onset Nemaline Myopathy

Human phenotypes related to Childhood-Onset Nemaline Myopathy:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0003458
2 nemaline bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003798
3 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
4 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
5 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
6 type 1 muscle fiber predominance 58 31 frequent (33%) Frequent (79-30%) HP:0003803
7 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
8 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
9 increased muscle lipid content 58 31 frequent (33%) Frequent (79-30%) HP:0009058
10 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
11 generalized limb muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009055
12 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
13 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
14 limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003690
15 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
16 neuromuscular dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002068
17 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
18 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 respiratory insufficiency due to muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002747
20 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
21 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
22 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
23 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
24 scapular winging 58 31 occasional (7.5%) Occasional (29-5%) HP:0003691
25 bulbar signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002483
26 fetal akinesia sequence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001989
27 slender build 58 31 occasional (7.5%) Occasional (29-5%) HP:0001533
28 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
29 long face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000276
30 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
31 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
32 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
33 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
34 reduced vital capacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002792
35 fatigable weakness of bulbar muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030192
36 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
37 neck muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000467
38 breech presentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001623
39 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
40 mildly elevated creatine kinase 31 occasional (7.5%) HP:0008180
41 ptosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000508
42 polyhydramnios 58 31 very rare (1%) Very rare (<4-1%) HP:0001561
43 arthrogryposis multiplex congenita 58 31 very rare (1%) Very rare (<4-1%) HP:0002804
44 flexion contracture 58 Occasional (29-5%)
45 myopathy 58 Very frequent (99-80%)
46 mildly elevated creatine phosphokinase 58 Occasional (29-5%)
47 poor fine motor coordination 58 Excluded (0%)

MGI Mouse Phenotypes related to Childhood-Onset Nemaline Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ACTA1 KLHL41 MYPN NEB TPM3

Drugs & Therapeutics for Childhood-Onset Nemaline Myopathy

Search Clinical Trials , NIH Clinical Center for Childhood-Onset Nemaline Myopathy

Genetic Tests for Childhood-Onset Nemaline Myopathy

Anatomical Context for Childhood-Onset Nemaline Myopathy

Publications for Childhood-Onset Nemaline Myopathy

Articles related to Childhood-Onset Nemaline Myopathy:

(show all 23)
# Title Authors PMID Year
1
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. 6
26418456 2015
2
Clinical utility gene card for: nemaline myopathy. 6
22510848 2012
3
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. 6
21109227 2010
4
Nemaline myopathy type 6: clinical and myopathological features. 6
21104864 2010
5
A TPM3 mutation causing cap myopathy. 6
19553118 2009
6
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. 6
18382475 2008
7
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 6
18300303 2008
8
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6
17376686 2007
9
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. 6
15562513 2005
10
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. 6
12805120 2003
11
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. 6
12196661 2002
12
Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301465 2002
13
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 6
10619715 1999
14
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. 6
10587521 1999
15
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. 6
7704029 1995
16
[Congenital myopathy with selective hypotrophy of type I fibers]. 6
1221488 1975
17
A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review. 61
31696431 2019
18
[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy]. 61
30369353 2018
19
Nemaline myopathy with dilated cardiomyopathy in childhood. 61
23650303 2013
20
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. 61
23378224 2013
21
Clinical and pathological features of childhood-onset nemaline myopathy: a report of four cases. 61
22899938 2012
22
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 61
14733965 2004
23
[Congenital mild nemaline myopathy]. 61
11555969 2001

Variations for Childhood-Onset Nemaline Myopathy

Expression for Childhood-Onset Nemaline Myopathy

Search GEO for disease gene expression data for Childhood-Onset Nemaline Myopathy.

Pathways for Childhood-Onset Nemaline Myopathy

GO Terms for Childhood-Onset Nemaline Myopathy

Cellular components related to Childhood-Onset Nemaline Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.91 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
2 cytoplasm GO:0005737 9.91 TPM3 TPM2 NEB MYPN KLHL41 KBTBD13
3 cytoskeleton GO:0005856 9.72 TPM3 TPM2 NEB KLHL41 ACTA1
4 Z disc GO:0030018 9.46 NEB MYPN
5 actin filament GO:0005884 9.43 TPM3 TPM2 ACTA1
6 stress fiber GO:0001725 9.4 TPM3 ACTA1
7 sarcomere GO:0030017 9.33 NEB MYPN ACTA1
8 muscle thin filament tropomyosin GO:0005862 8.96 TPM3 TPM2
9 actin cytoskeleton GO:0015629 8.92 TPM3 TPM2 NEB ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.26 MYPN KLHL41
2 skeletal muscle fiber development GO:0048741 9.16 KLHL41 ACTA1
3 muscle contraction GO:0006936 9.13 TPM3 TPM2 ACTA1
4 muscle filament sliding GO:0030049 8.92 TPM3 TPM2 NEB ACTA1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of muscle GO:0008307 9.16 TPM2 NEB
2 actin filament binding GO:0051015 9.13 TPM3 TPM2 NEB
3 actin binding GO:0003779 8.92 TPM3 TPM2 NEB MYPN

Sources for Childhood-Onset Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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