MCID: CPM001
MIFTS: 30

Cap Myopathy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Cap Myopathy

MalaCards integrated aliases for Cap Myopathy:

Name: Cap Myopathy 49 24 55 36 13 69
Cap Disease 49 24 55
Congenital Myopathy with Caps 49 24

Characteristics:

Orphanet epidemiological data:

55
cap myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA171881
UMLS via Orphanet 70 C3710589
ICD10 via Orphanet 33 G71.2
KEGG 36 H00702
UMLS 69 C3710589

Summaries for Cap Myopathy

NIH Rare Diseases : 49 Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family. Last updated: 9/23/2013

MalaCards based summary : Cap Myopathy, also known as cap disease, is related to myopathy, congenital and myopathy. An important gene associated with Cap Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cardiac muscle contraction and Dilated cardiomyopathy (DCM). The drugs Anti-Bacterial Agents and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotype is muscle.

Genetics Home Reference : 24 Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.

Related Diseases for Cap Myopathy

Graphical network of the top 20 diseases related to Cap Myopathy:



Diseases related to Cap Myopathy

Symptoms & Phenotypes for Cap Myopathy

MGI Mouse Phenotypes related to Cap Myopathy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ACTA1 MYPN TPM3

Drugs & Therapeutics for Cap Myopathy

Drugs for Cap Myopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents
2 Antibiotics, Antitubercular

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IMPROVinG Outcomes in Community Acquired Pneumonia Completed NCT02835040
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Cap Myopathy

Genetic Tests for Cap Myopathy

Anatomical Context for Cap Myopathy

MalaCards organs/tissues related to Cap Myopathy:

38
Skeletal Muscle

Publications for Cap Myopathy

Articles related to Cap Myopathy:

# Title Authors Year
1
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. ( 28220527 )
2017
2
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
3
Novel TPM3 mutation in a family with cap myopathy and review of the literature. ( 24239060 )
2013
4
Abnormal actin binding of aberrant I^-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. ( 22084935 )
2012
5
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ( 20303757 )
2010
6
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )
2010
7
A TPM3 mutation causing cap myopathy. ( 19553118 )
2009

Variations for Cap Myopathy

Expression for Cap Myopathy

Search GEO for disease gene expression data for Cap Myopathy.

Pathways for Cap Myopathy

Pathways related to Cap Myopathy according to KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260

Pathways related to Cap Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 TPM2 TPM3
2 11.05 TPM2 TPM3
3 10.66 ACTA1 TPM2 TPM3
4 10.51 TPM2 TPM3

GO Terms for Cap Myopathy

Cellular components related to Cap Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.54 ACTA1 TPM2 TPM3
2 actin cytoskeleton GO:0015629 9.33 ACTA1 TPM2 TPM3
3 sarcomere GO:0030017 9.32 ACTA1 MYPN
4 stress fiber GO:0001725 9.26 ACTA1 TPM3
5 muscle thin filament tropomyosin GO:0005862 8.96 TPM2 TPM3
6 actin filament GO:0005884 8.8 ACTA1 TPM2 TPM3

Biological processes related to Cap Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.16 TPM2 TPM3
2 muscle contraction GO:0006936 9.13 ACTA1 TPM2 TPM3
3 muscle filament sliding GO:0030049 8.8 ACTA1 TPM2 TPM3

Molecular functions related to Cap Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.16 TPM2 TPM3
2 structural constituent of muscle GO:0008307 8.96 TPM2 TPM3
3 actin filament binding GO:0051015 8.8 MYPN TPM2 TPM3

Sources for Cap Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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