MCID: CHL107
MIFTS: 29

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 53 59
Mild Nemaline Myopathy 53 59
Nemaline Myopathy, Childhood Onset 73

Characteristics:

Orphanet epidemiological data:

59
childhood-onset nemaline myopathy
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA171439
UMLS via Orphanet 74 C0546125
ICD10 via Orphanet 34 G71.2
UMLS 73 C0546125

Summaries for Childhood-Onset Nemaline Myopathy

NIH Rare Diseases : 53 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 hypertelorism and high palate

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:

59 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 Occasional (29-5%)
2 high palate 59 Occasional (29-5%)
3 ptosis 59 Very rare (<4-1%)
4 scoliosis 59 Occasional (29-5%)
5 flexion contracture 59 Occasional (29-5%)
6 myopathy 59 Very frequent (99-80%)
7 respiratory insufficiency due to muscle weakness 59 Occasional (29-5%)
8 micrognathia 59 Occasional (29-5%)
9 feeding difficulties 59 Occasional (29-5%)
10 narrow chest 59 Occasional (29-5%)
11 cardiomyopathy 59 Occasional (29-5%)
12 pes cavus 59 Occasional (29-5%)
13 poor fine motor coordination 59 Excluded (0%)
14 waddling gait 59 Occasional (29-5%)
15 spinal rigidity 59 Frequent (79-30%)
16 emg: myopathic abnormalities 59 Very frequent (99-80%)
17 scapular winging 59 Occasional (29-5%)
18 arthrogryposis multiplex congenita 59 Very rare (<4-1%)
19 motor delay 59 Frequent (79-30%)
20 fetal akinesia sequence 59 Occasional (29-5%)
21 muscle stiffness 59 Frequent (79-30%)
22 nemaline bodies 59 Very frequent (99-80%)
23 type 1 muscle fiber predominance 59 Frequent (79-30%)
24 bulbar signs 59 Occasional (29-5%)
25 slender build 59 Occasional (29-5%)
26 narrow face 59 Occasional (29-5%)
27 fatigable weakness of bulbar muscles 59 Occasional (29-5%)
28 polyhydramnios 59 Very rare (<4-1%)
29 long face 59 Occasional (29-5%)
30 areflexia 59 Occasional (29-5%)
31 clumsiness 59 Frequent (79-30%)
32 difficulty walking 59 Frequent (79-30%)
33 hyporeflexia 59 Frequent (79-30%)
34 mildly elevated creatine phosphokinase 59 Occasional (29-5%)
35 bradykinesia 59 Frequent (79-30%)
36 breech presentation 59 Occasional (29-5%)
37 facial diplegia 59 Occasional (29-5%)
38 increased variability in muscle fiber diameter 59 Frequent (79-30%)
39 generalized hypotonia 59 Occasional (29-5%)
40 reduced vital capacity 59 Occasional (29-5%)
41 neuromuscular dysphagia 59 Frequent (79-30%)
42 exercise intolerance 59 Frequent (79-30%)
43 limb muscle weakness 59 Frequent (79-30%)
44 generalized limb muscle atrophy 59 Frequent (79-30%)
45 increased muscle lipid content 59 Frequent (79-30%)
46 neck muscle weakness 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Childhood-Onset Nemaline Myopathy:

46
# 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 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3
7 sarcomere GO:0030017 9.13 ACTA1 MYPN NEB
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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