MCID: CPM001
MIFTS: 29

Cap Myopathy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Cap Myopathy

MalaCards integrated aliases for Cap Myopathy:

Name: Cap Myopathy 53 25 59 37 13 73
Cap Disease 53 25 59
Congenital Myopathy with Caps 53 25

Characteristics:

Orphanet epidemiological data:

59
cap myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA171881
UMLS via Orphanet 74 C3710589
ICD10 via Orphanet 34 G71.2
KEGG 37 H00702
UMLS 73 C3710589

Summaries for Cap Myopathy

NIH Rare Diseases : 53 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.

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 : 25 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:

46
# 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 Not Applicable
2 Antibiotics, Antitubercular Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 IMPROVinG Outcomes in Community Acquired Pneumonia Completed NCT02835040 Not Applicable
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:

41
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
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )
2010
6
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ( 20303757 )
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:

37
# 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 stress fiber GO:0001725 9.32 ACTA1 TPM3
4 sarcomere GO:0030017 9.26 ACTA1 MYPN
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
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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