MCID: CHL107
MIFTS: 23

Childhood-Onset Nemaline Myopathy

Categories: Rare diseases, Neuronal 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 nemaline myopathy and myopathy. An important gene associated with Childhood-Onset Nemaline Myopathy is TPM2 (Tropomyosin 2), and among its related pathways/superpathways are Cardiac conduction and Cardiac muscle contraction. Related phenotype is muscle.

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

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 9.93 ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
2 cytoplasm GO:0005737 9.91 ACTA1 KBTBD13 KLHL41 MYPN NEB TPM2
3 cytoskeleton GO:0005856 9.72 ACTA1 KLHL41 NEB TPM2 TPM3
4 Z disc GO:0030018 9.48 MYPN NEB
5 Cul3-RING ubiquitin ligase complex GO:0031463 9.43 KBTBD13 KLHL41
6 actin filament GO:0005884 9.43 ACTA1 TPM2 TPM3
7 stress fiber GO:0001725 9.4 ACTA1 TPM3
8 muscle thin filament tropomyosin GO:0005862 9.16 TPM2 TPM3
9 sarcomere GO:0030017 9.13 ACTA1 MYPN NEB
10 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 NEB TPM2 TPM3
2 actin filament binding GO:0051015 9.13 MYPN TPM2 TPM3
3 structural constituent of muscle GO:0008307 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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