MCID: CPM001
MIFTS: 33

Cap Myopathy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Cap Myopathy

MalaCards integrated aliases for Cap Myopathy:

Name: Cap Myopathy 19 42 58 71
Cap Disease 19 42 58
Congenital Myopathy with Caps 19 42

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 32 G71.2
UMLS via Orphanet 72 C3710589
Orphanet 58 ORPHA171881
UMLS 71 C3710589

Summaries for Cap Myopathy

MedlinePlus Genetics: 42 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.Affected individuals may have feeding and swallowing difficulties in infancy. They typically have delayed development of motor skills such as sitting, crawling, standing, and walking. They may fall frequently, tire easily, and have difficulty running, climbing stairs, or jumping. In some cases, the muscles used for breathing are affected, and life-threatening breathing difficulties can occur.People with cap myopathy may have a high arch in the roof of the mouth (high-arched palate), severely drooping eyelids (ptosis), and a long face. Some affected individuals develop an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis).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.

MalaCards based summary: Cap Myopathy, also known as cap disease, is related to myopathy and batten-turner congenital myopathy. An important gene associated with Cap Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include prostate and skeletal muscle, and related phenotypes are high palate and reduced tendon reflexes

GARD: 19 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 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. 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 genetic changes 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 genetic changes in the gene and occur in people with no history of the disorder in their family.

Orphanet: 58 Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

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:

58 30 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000218
2 reduced tendon reflexes 58 30 Frequent (33%) Frequent (79-30%)
HP:0001315
3 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
4 long face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000276
5 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
6 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001763
7 pectus excavatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000767
8 mitral valve prolapse 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001634
9 easy fatigability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003388
10 nasal speech 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001611
11 poor head control 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002421
12 lumbar hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002938
13 gowers sign 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003391
14 generalized amyotrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003700
15 aortic root aneurysm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002616
16 generalized hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001290
17 sinus tachycardia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011703
18 frequent falls 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002359
19 increased variability in muscle fiber diameter 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003557
20 thoracic scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002943
21 fatiguable weakness of proximal limb muscles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030200
22 central hypoventilation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007110
23 difficulty climbing stairs 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003551
24 lower limb muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007340
25 lower limb amyotrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007210
26 pes valgus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008081
27 difficulty running 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009046
28 reduced systolic function 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006673
29 tip-toe gait 30 Occasional (7.5%) HP:0030051
30 toe walking 58 Occasional (29-5%)
31 abnormal muscle fiber morphology 58 Frequent (79-30%)

Drugs & Therapeutics for Cap Myopathy

Search Clinical Trials, NIH Clinical Center for Cap Myopathy

Genetic Tests for Cap Myopathy

Anatomical Context for Cap Myopathy

Organs/tissues related to Cap Myopathy:

MalaCards : Prostate, Skeletal Muscle

Publications for Cap Myopathy

Articles related to Cap Myopathy:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern. 62
35688744 2022
2
Pretreatment visceral metastases in castration resistant metastatic prostate cancer: role in prediction versus actual site of disease progression. 62
35836271 2022
3
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis. 62
35579956 2022
4
The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications. 62
34291143 2021
5
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review. 62
34184449 2021
6
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. 62
33576074 2021
7
Respiratory Failure as the Presenting Symptom in a Sporadic Case of Cap Myopathy. 62
33064836 2020
8
Markov State Modelling of Disease Courses and Mortality Risks of Patients with Community-Acquired Pneumonia. 62
32121038 2020
9
Myopalladin promotes muscle growth through modulation of the serum response factor pathway. 62
31647200 2020
10
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. 62
31133047 2019
11
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. 62
30679003 2019
12
The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies. 62
30544720 2018
13
Relative Clinical and Cost Burden of Community-Acquired Pneumonia Hospitalizations in Older Adults in the United States-A Cross-Sectional Analysis. 62
30200286 2018
14
The reason for the low Ca2+-sensitivity of thin filaments associated with the Glu41Lys mutation in the TPM2 gene is "freezing" of tropomyosin near the outer domain of actin and inhibition of actin monomer switching off during the ATPase cycle. 62
29792862 2018
15
Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene. 62
29196649 2017
16
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. 62
27726070 2017
17
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. 62
28220527 2017
18
Complication of Community-Acquired Pneumonia (Including Cardiac Complications). 62
27960213 2016
19
Improving outcomes in community-acquired pneumonia. 62
26859379 2016
20
Severe congenital actin related myopathy with myofibrillar myopathy features. 62
25913210 2015
21
ROBO1, a tumor suppressor and critical molecular barrier for localized tumor cells to acquire invasive phenotype: study in African-American and Caucasian prostate cancer models. 62
24752651 2014
22
[The three-category classification of severe acute pancreatitis: a single-center pilot study]. 62
25623558 2014
23
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature. 62
25127990 2014
24
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 62
25079567 2014
25
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 62
24692096 2014
26
Corticosteroids in the treatment of severe community-acquired pneumonia. 62
24817026 2014
27
Novel TPM3 mutation in a family with cap myopathy and review of the literature. 62
24239060 2014
28
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 62
24095155 2013
29
Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH. 62
24151880 2013
30
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. 62
23804214 2013
31
Community-acquired pneumonia. 62
23422417 2013
32
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 62
23413262 2013
33
BMI1 polycomb group protein acts as a master switch for growth and death of tumor cells: regulates TCF4-transcriptional factor-induced BCL2 signaling. 62
23671559 2013
34
Myopathies associated with β-tropomyosin mutations. 62
22749895 2012
35
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. 62
22980765 2012
36
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 62
22749829 2012
37
Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. 62
22084935 2012
38
Protein aggregation in congenital myopathies. 62
22172423 2011
39
Ten-year outcomes: the clinical utility of single photon emission computed tomography/computed tomography capromab pendetide (Prostascint) in a cohort diagnosed with localized prostate cancer. 62
20961696 2011
40
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions]. 62
21677359 2011
41
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 62
20554445 2010
42
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 62
20303757 2010
43
Angiogenesis as a strategic target for prostate cancer therapy. 62
19536866 2010
44
A TPM3 mutation causing cap myopathy. 62
19553118 2009
45
RHAMM (CD168) is overexpressed at the protein level and may constitute an immunogenic antigen in advanced prostate cancer disease. 62
19724689 2009
46
TPM3 mutation in one of the original cases of cap disease. 62
19487656 2009
47
Cap disease due to mutation of the beta-tropomyosin gene (TPM2). 62
19345583 2009
48
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. 62
19047562 2008
49
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. 62
18574571 2008
50
The role of extracellular matrix metalloproteinase inducer protein in prostate cancer progression. 62
18273614 2008

Variations for Cap Myopathy

Expression for Cap Myopathy

Search GEO for disease gene expression data for Cap Myopathy.

Pathways for Cap Myopathy

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 actin cytoskeleton GO:0015629 9.46 TPM3 TPM2
2 actin filament GO:0005884 9.26 TPM3 TPM2
3 muscle thin filament tropomyosin GO:0005862 8.92 TPM3 TPM2

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 9.26 TPM3 TPM2
2 muscle contraction GO:0006936 8.92 TPM3 TPM2

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 9.26 TPM3 TPM2
2 actin binding GO:0003779 9.02 TPM3 TPM2 MYPN

Sources for Cap Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....