MCID: CPM001
MIFTS: 38

Cap Myopathy

Categories: Bone diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cap Myopathy

MalaCards integrated aliases for Cap Myopathy:

Name: Cap Myopathy 54 26 60 38 13 74
Cap Disease 54 26 60
Congenital Myopathy with Caps 54 26

Characteristics:

Orphanet epidemiological data:

60
cap myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Cap Myopathy

NIH Rare Diseases : 54 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 and myopathy, congenital. 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 phenotypes are high palate and reduced tendon reflexes

Genetics Home Reference : 26 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

Human phenotypes related to Cap Myopathy:

60 33 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
2 reduced tendon reflexes 60 33 frequent (33%) Frequent (79-30%) HP:0001315
3 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
4 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
5 pectus excavatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000767
6 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
7 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
8 toe walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0040083
9 mitral valve prolapse 60 33 occasional (7.5%) Occasional (29-5%) HP:0001634
10 easy fatigability 60 33 occasional (7.5%) Occasional (29-5%) HP:0003388
11 nasal speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0001611
12 increased variability in muscle fiber diameter 60 33 occasional (7.5%) Occasional (29-5%) HP:0003557
13 fatiguable weakness of proximal limb muscles 60 33 occasional (7.5%) Occasional (29-5%) HP:0030200
14 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
15 lower limb muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0007340
16 frequent falls 60 33 occasional (7.5%) Occasional (29-5%) HP:0002359
17 gowers sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003391
18 difficulty climbing stairs 60 33 occasional (7.5%) Occasional (29-5%) HP:0003551
19 generalized amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003700
20 difficulty running 60 33 occasional (7.5%) Occasional (29-5%) HP:0009046
21 thoracic scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002943
22 sinus tachycardia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011703
23 central hypoventilation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007110
24 lower limb amyotrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007210
25 lumbar hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002938
26 poor head control 60 33 occasional (7.5%) Occasional (29-5%) HP:0002421
27 reduced systolic function 60 33 occasional (7.5%) Occasional (29-5%) HP:0006673
28 pes valgus 60 33 occasional (7.5%) Occasional (29-5%) HP:0008081
29 aortic root aneurysm 33 occasional (7.5%) HP:0002616
30 abnormality of muscle fibers 60 Frequent (79-30%)
31 aortic root dilatation 60 Occasional (29-5%)

MGI Mouse Phenotypes related to Cap Myopathy:

47
# 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:

42
Skeletal Muscle

Publications for Cap Myopathy

Articles related to Cap Myopathy:

# Title Authors Year
1
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. ( 30679003 )
2018
2
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. ( 28220527 )
2017
3
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. ( 23804214 )
2013
4
Novel TPM3 mutation in a family with cap myopathy and review of the literature. ( 24239060 )
2013
5
Abnormal actin binding of aberrant I^-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. ( 22084935 )
2012
6
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. ( 20554445 )
2010
7
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ( 20303757 )
2010
8
A TPM3 mutation causing cap myopathy. ( 19553118 )
2009
9
Cap disease uncapped. ( 17434306 )
2007
10
"Cap disease"--a failure in the correct muscle fibre formation. ( 12163190 )
2002

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:

38
# 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
11.5 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 filament binding GO:0051015 8.96 TPM2 TPM3
2 actin binding GO:0003779 8.8 MYPN TPM2 TPM3

Sources for Cap 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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