MCID: CHL107
MIFTS: 32

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 54 60
Mild Nemaline Myopathy 54 60
Nemaline Myopathy, Childhood Onset 74

Characteristics:

Orphanet epidemiological data:

60
childhood-onset nemaline myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Childhood-Onset Nemaline Myopathy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 171439Disease definitionChildhood 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.EpidemiologyThe annual incidence of NM has been estimated at 1/50,000 live births.Clinical descriptionChildhood 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.EtiologyThis 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 and nemaline myopathy. An important gene associated with Childhood-Onset Nemaline Myopathy is KLHL41 (Kelch Like Family Member 41), 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

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:

60 33 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emg: myopathic abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0003458
2 nemaline bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003798
3 spinal rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0003306
4 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
5 muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0003552
6 type 1 muscle fiber predominance 60 33 frequent (33%) Frequent (79-30%) HP:0003803
7 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
8 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
9 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
10 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
11 increased variability in muscle fiber diameter 60 33 frequent (33%) Frequent (79-30%) HP:0003557
12 neuromuscular dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002068
13 exercise intolerance 60 33 frequent (33%) Frequent (79-30%) HP:0003546
14 limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003690
15 generalized limb muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009055
16 increased muscle lipid content 60 33 frequent (33%) Frequent (79-30%) HP:0009058
17 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
18 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
19 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
20 respiratory insufficiency due to muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0002747
21 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
22 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
23 narrow chest 60 33 occasional (7.5%) Occasional (29-5%) HP:0000774
24 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
25 pes cavus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001761
26 waddling gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002515
27 scapular winging 60 33 occasional (7.5%) Occasional (29-5%) HP:0003691
28 bulbar signs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002483
29 fetal akinesia sequence 60 33 occasional (7.5%) Occasional (29-5%) HP:0001989
30 slender build 60 33 occasional (7.5%) Occasional (29-5%) HP:0001533
31 narrow face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000275
32 fatigable weakness of bulbar muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0030192
33 long face 60 33 occasional (7.5%) Occasional (29-5%) HP:0000276
34 areflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001284
35 breech presentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001623
36 facial diplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001349
37 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
38 reduced vital capacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002792
39 neck muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000467
40 mildly elevated creatine kinase 33 occasional (7.5%) HP:0008180
41 ptosis 60 33 very rare (1%) Very rare (<4-1%) HP:0000508
42 arthrogryposis multiplex congenita 60 33 very rare (1%) Very rare (<4-1%) HP:0002804
43 polyhydramnios 60 33 very rare (1%) Very rare (<4-1%) HP:0001561
44 flexion contracture 60 Occasional (29-5%)
45 myopathy 60 Very frequent (99-80%)
46 poor fine motor coordination 60 Excluded (0%)
47 mildly elevated creatine phosphokinase 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Childhood-Onset Nemaline Myopathy:

47
# 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:

# Title Authors Year
1
Clinical and pathological features of childhood-onset nemaline myopathy: a report of four cases. ( 22899938 )
2012

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 9.88 ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
2 cytoskeleton GO:0005856 9.72 ACTA1 KLHL41 NEB TPM2 TPM3
3 Z disc GO:0030018 9.43 MYPN NEB
4 actin filament GO:0005884 9.43 ACTA1 TPM2 TPM3
5 stress fiber GO:0001725 9.37 ACTA1 TPM3
6 sarcomere GO:0030017 9.33 ACTA1 MYPN NEB
7 muscle thin filament tropomyosin GO:0005862 8.96 TPM2 TPM3
8 actin cytoskeleton GO:0015629 8.92 ACTA1 NEB TPM2 TPM3

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

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.32 TPM2 TPM3
2 sarcomere organization GO:0045214 9.26 KLHL41 MYPN
3 skeletal muscle fiber development GO:0048741 9.16 ACTA1 KLHL41
4 muscle contraction GO:0006936 9.13 ACTA1 TPM2 TPM3
5 muscle filament sliding GO:0030049 8.92 ACTA1 NEB TPM2 TPM3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.33 MYPN TPM2 TPM3
2 structural constituent of muscle GO:0008307 8.96 NEB TPM2
3 actin filament binding GO:0051015 8.8 NEB TPM2 TPM3

Sources for Childhood-Onset Nemaline Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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