MCID: CPM001
MIFTS: 44

Cap Myopathy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cap Myopathy

MalaCards integrated aliases for Cap Myopathy:

Name: Cap Myopathy 20 43 58 36 71
Cap Disease 20 43 58
Congenital Myopathy with Caps 20 43

Characteristics:

Orphanet epidemiological data:

58
cap myopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Cap Myopathy

MedlinePlus Genetics : 43 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, congenital, with fiber-type disproportion and batten-turner congenital myopathy. An important gene associated with Cap Myopathy is TPM3 (Tropomyosin 3), and among its related pathways/superpathways are Cardiac muscle contraction and cGMP-PKG signaling pathway. The drugs Antibiotics, Antitubercular and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include prostate and skeletal muscle, and related phenotypes are high palate and reduced tendon reflexes

GARD : 20 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.

KEGG : 36 Cap myopathy is a rare congenital myopathy morphologically characterized by the presence of cap-like structures which are sharply demarcated structures of disorganized thin filaments in the periphery of muscle fibers. These structures are in fact disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the number of fibers affected. Therefore, patients may present with a neonatal fatal form or have a more stable course of the disease in the infant non-fatal form. Respiratory problems are common. All the currently recognized genes associated with cap myopathy (TPM2, TPM3 and now ACTA1) encode components of the sarcomeric thin filaments.

Related Diseases for Cap Myopathy

Diseases related to Cap Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital, with fiber-type disproportion 29.8 TPM3 ACTA1
2 batten-turner congenital myopathy 29.8 TPM3 TPM2 ACTA1
3 intermediate congenital nemaline myopathy 29.6 TPM3 ACTA1
4 nemaline myopathy 29.6 TPM3 TPM2 ACTA1
5 congenital fiber-type disproportion 29.5 TPM3 TPM2 ACTA1
6 myopathy 29.4 TPM3 TPM2 MYPN ACTA1
7 distal arthrogryposis 29.2 TPM3 TPM2 ACTA1
8 respiratory failure 29.2 MYPN ACTA1
9 childhood-onset nemaline myopathy 28.6 TPM3 TPM2 MYPN ACTA1
10 nemaline myopathy 1 11.7
11 nemaline myopathy 4 11.7
12 crab allergy 9.9 TPM3 TPM2
13 typical congenital nemaline myopathy 9.9 TPM2 ACTA1
14 crustacean allergy 9.9 TPM3 TPM2
15 congenital amyoplasia 9.9
16 snail allergy 9.9 TPM3 TPM2
17 melon allergy 9.9 TPM3 TPM2
18 shrimp allergy 9.9 TPM3 TPM2
19 masticatory muscles, hypertrophy of 9.9
20 muscle hypertrophy 9.9
21 scoliosis 9.9
22 udd distal myopathy - tibial muscular dystrophy 9.9
23 foot drop 9.9
24 hypotonia 9.9
25 myopathy, centronuclear, 2 9.8 TPM3 TPM2
26 myopathy, centronuclear, 1 9.8 TPM3 TPM2
27 arthrogryposis, distal, type 1a 9.7 TPM3 TPM2
28 myofibrillar myopathy 9.7 MYPN ACTA1
29 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.6 TPM3 TPM2 ACTA1
30 restrictive cardiomyopathy 9.6 MYPN ACTA1
31 congenital structural myopathy 9.2 TPM3 TPM2 MYPN ACTA1
32 hypertrophic cardiomyopathy 9.2 TPM3 TPM2 MYPN ACTA1
33 dilated cardiomyopathy 9.1 TPM3 TPM2 MYPN ACTA1

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 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
2 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
3 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
4 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
5 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
6 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
7 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
8 toe walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0040083
9 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
10 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
11 nasal speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001611
12 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
13 aortic root aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002616
14 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
15 sinus tachycardia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011703
16 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
17 increased variability in muscle fiber diameter 58 31 occasional (7.5%) Occasional (29-5%) HP:0003557
18 generalized amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003700
19 thoracic scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002943
20 lumbar hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002938
21 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
22 central hypoventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007110
23 gowers sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003391
24 difficulty climbing stairs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003551
25 lower limb amyotrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007210
26 fatiguable weakness of proximal limb muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030200
27 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
28 difficulty running 58 31 occasional (7.5%) Occasional (29-5%) HP:0009046
29 reduced systolic function 58 31 occasional (7.5%) Occasional (29-5%) HP:0006673
30 abnormality of muscle fibers 58 Frequent (79-30%)

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 Antibiotics, Antitubercular
2 Anti-Bacterial Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluating the Impact of a New Model of Care Designed to Improve Evidence-based Management of Community-acquired Pneumonia Completed NCT02835040

Search NIH Clinical Center for Cap Myopathy

Genetic Tests for Cap Myopathy

Anatomical Context for Cap Myopathy

MalaCards organs/tissues related to Cap Myopathy:

40
Prostate, Skeletal Muscle

Publications for Cap Myopathy

Articles related to Cap Myopathy:

(show top 50) (show all 68)
# Title Authors PMID Year
1
A TPM3 mutation causing cap myopathy. 6 61
19553118 2009
2
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. 6
26418456 2015
3
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. 6
18382475 2008
4
Mutations in TPM3 are a common cause of congenital fiber type disproportion. 6
18300303 2008
5
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 6
17376686 2007
6
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. 6
15562513 2005
7
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. 6
12196661 2002
8
A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production. 6
10587521 1999
9
Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. 6
10619715 1999
10
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. 6
7704029 1995
11
[Congenital myopathy with selective hypotrophy of type I fibers]. 6
1221488 1975
12
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. 61
33576074 2021
13
Respiratory Failure as the Presenting Symptom in a Sporadic Case of Cap Myopathy. 61
33064836 2020
14
Markov State Modelling of Disease Courses and Mortality Risks of Patients with Community-Acquired Pneumonia. 61
32121038 2020
15
Myopalladin promotes muscle growth through modulation of the serum response factor pathway. 61
31647200 2020
16
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. 61
31133047 2019
17
Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. 61
30679003 2019
18
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. 61
30544720 2018
19
Relative Clinical and Cost Burden of Community-Acquired Pneumonia Hospitalizations in Older Adults in the United States-A Cross-Sectional Analysis. 61
30200286 2018
20
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. 61
29792862 2018
21
Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene. 61
29196649 2017
22
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. 61
27726070 2017
23
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods. 61
28220527 2017
24
Complication of Community-Acquired Pneumonia (Including Cardiac Complications). 61
27960213 2016
25
Improving outcomes in community-acquired pneumonia. 61
26859379 2016
26
Severe congenital actin related myopathy with myofibrillar myopathy features. 61
25913210 2015
27
[The three-category classification of severe acute pancreatitis: a single-center pilot study]. 61
25623558 2014
28
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature. 61
25127990 2014
29
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. 61
24752651 2014
30
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. 61
25079567 2014
31
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 61
24692096 2014
32
Corticosteroids in the treatment of severe community-acquired pneumonia. 61
24817026 2014
33
Novel TPM3 mutation in a family with cap myopathy and review of the literature. 61
24239060 2014
34
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene. 61
24095155 2013
35
The role of ultrasound in fetal congenital myopathy detection: a novel case of fetal-onset cap myopathy. 61
23804214 2013
36
Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH. 61
24151880 2013
37
Community-acquired pneumonia. 61
23422417 2013
38
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 61
23413262 2013
39
BMI1 polycomb group protein acts as a master switch for growth and death of tumor cells: regulates TCF4-transcriptional factor-induced BCL2 signaling. 61
23671559 2013
40
Myopathies associated with β-tropomyosin mutations. 61
22749895 2012
41
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 61
22749829 2012
42
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. 61
22980765 2012
43
Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. 61
22084935 2012
44
Protein aggregation in congenital myopathies. 61
22172423 2011
45
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. 61
20961696 2011
46
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions]. 61
21677359 2011
47
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 61
20554445 2010
48
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 61
20303757 2010
49
Angiogenesis as a strategic target for prostate cancer therapy. 61
19536866 2010
50
RHAMM (CD168) is overexpressed at the protein level and may constitute an immunogenic antigen in advanced prostate cancer disease. 61
19724689 2009

Variations for Cap Myopathy

ClinVar genetic disease variations for Cap Myopathy:

6 (show top 50) (show all 164)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TPM3 NM_152263.4(TPM3):c.26T>G (p.Met9Arg) SNV Pathogenic 12446 rs80358247 1:154164469-154164469 1:154191993-154191993
2 TPM3 NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) SNV Pathogenic 12447 rs199474720 1:154140414-154140414 1:154167938-154167938
3 TPM3 NM_152263.4(TPM3):c.855-1G>A SNV Pathogenic 12448 rs113605263 1:154140417-154140417 1:154167941-154167941
4 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 1:154145447-154145447 1:154172971-154172971
5 TPM3 NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) Deletion Pathogenic 12451 rs199474719 1:154140416-154140416 1:154167940-154167940
6 TPM3 NM_152263.4(TPM3):c.670_672GAA[1] (p.Glu225del) Microsatellite Pathogenic 235143 rs876661406 1:154143155-154143157 1:154170679-154170681
7 TPM3 NM_152263.4(TPM3):c.654_656AGA[1] (p.Glu219del) Microsatellite Pathogenic 235144 rs876661407 1:154143171-154143173 1:154170695-154170697
8 TPM3 NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) SNV Pathogenic 462142 rs1553248515 1:154142893-154142893 1:154170417-154170417
9 TPM3 NM_152263.4(TPM3):c.503G>A (p.Arg168His) SNV Pathogenic 12450 rs121964852 1:154145447-154145447 1:154172971-154172971
10 TPM3 NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) SNV Pathogenic 12454 rs121964854 1:154145448-154145448 1:154172972-154172972
11 TPM3 NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) SNV Pathogenic 12449 rs80358248 1:154164401-154164401 1:154191925-154191925
12 TPM3 NM_152263.4(TPM3):c.298C>G (p.Leu100Val) SNV Likely pathogenic 531180 rs121964853 1:154148670-154148670 1:154176194-154176194
13 TPM3 NM_152263.4(TPM3):c.377+863_775+422del Deletion Likely pathogenic 974884 1:154142454-154147728 1:154169978-154175252
14 TPM3 NM_152263.4(TPM3):c.43G>C (p.Asp15His) SNV Likely pathogenic 437430 rs1553251644 1:154164452-154164452 1:154191976-154191976
15 TPM3 NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) SNV Likely pathogenic 652762 rs1571418855 1:154148697-154148697 1:154176221-154176221
16 TPM3 NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) SNV Likely pathogenic 801549 rs1553251644 1:154164452-154164452 1:154191976-154191976
17 TPM3 NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) SNV Likely pathogenic 801550 rs1571456678 1:154164488-154164488 1:154192012-154192012
18 TPM3 NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) SNV Likely pathogenic 12453 rs121964854 1:154145448-154145448 1:154172972-154172972
19 TPM3 NM_152263.4(TPM3):c.*283G>C SNV Uncertain significance 292691 rs886045316 1:154140130-154140130 1:154167654-154167654
20 TPM3 NM_152263.4(TPM3):c.*5755A>G SNV Uncertain significance 292626 rs777522493 1:154134658-154134658 1:154162182-154162182
21 TPM3 NM_152263.4(TPM3):c.*1152C>T SNV Uncertain significance 292679 rs535068015 1:154139261-154139261 1:154166785-154166785
22 TPM3 NM_152263.4(TPM3):c.*2675T>C SNV Uncertain significance 292658 rs886045304 1:154137738-154137738 1:154165262-154165262
23 TPM3 NM_152263.4(TPM3):c.*3860C>T SNV Uncertain significance 292648 rs763202740 1:154136553-154136553 1:154164077-154164077
24 TPM3 NM_152263.4(TPM3):c.*1661C>T SNV Uncertain significance 292675 rs575927755 1:154138752-154138752 1:154166276-154166276
25 TPM3 NM_152263.4(TPM3):c.*4513G>A SNV Uncertain significance 292642 rs886045296 1:154135900-154135900 1:154163424-154163424
26 TPM3 NM_152263.4(TPM3):c.*2220T>C SNV Uncertain significance 292664 rs886045306 1:154138193-154138193 1:154165717-154165717
27 TPM3 NM_152263.4(TPM3):c.804C>T (p.Tyr268=) SNV Uncertain significance 292695 rs762511246 1:154141831-154141831 1:154169355-154169355
28 TPM3 NM_152263.4(TPM3):c.*4525G>T SNV Uncertain significance 292641 rs886045295 1:154135888-154135888 1:154163412-154163412
29 TPM3 NM_152263.4(TPM3):c.*903C>T SNV Uncertain significance 292685 rs545353984 1:154139510-154139510 1:154167034-154167034
30 TPM3 NM_152263.4(TPM3):c.*2298T>C SNV Uncertain significance 292662 rs201157203 1:154138115-154138115 1:154165639-154165639
31 TPM3 NM_152263.4(TPM3):c.*3756C>A SNV Uncertain significance 292652 rs555633635 1:154136657-154136657 1:154164181-154164181
32 TPM3 NM_152263.4(TPM3):c.*325G>A SNV Uncertain significance 292690 rs886045315 1:154140088-154140088 1:154167612-154167612
33 TPM3 NM_152263.4(TPM3):c.*4302A>G SNV Uncertain significance 292645 rs886045298 1:154136111-154136111 1:154163635-154163635
34 TPM3 NM_152263.4(TPM3):c.*5594G>T SNV Uncertain significance 292628 rs550606876 1:154134819-154134819 1:154162343-154162343
35 TPM3 NM_152263.4(TPM3):c.*1093T>C SNV Uncertain significance 292681 rs886045311 1:154139320-154139320 1:154166844-154166844
36 TPM3 NM_152263.4(TPM3):c.*3807G>T SNV Uncertain significance 292650 rs886045301 1:154136606-154136606 1:154164130-154164130
37 TPM3 NM_152263.4(TPM3):c.*1964A>G SNV Uncertain significance 292673 rs886045309 1:154138449-154138449 1:154165973-154165973
38 TPM3 NM_152263.4(TPM3):c.*4541T>A SNV Uncertain significance 292640 rs886045294 1:154135872-154135872 1:154163396-154163396
39 TPM3 NM_152263.4(TPM3):c.*2116T>C SNV Uncertain significance 292670 rs886045307 1:154138297-154138297 1:154165821-154165821
40 TPM3 NM_152263.4(TPM3):c.*4636G>A SNV Uncertain significance 292638 rs886045292 1:154135777-154135777 1:154163301-154163301
41 TPM3 NM_152263.4(TPM3):c.*46C>T SNV Uncertain significance 292693 rs777118586 1:154140367-154140367 1:154167891-154167891
42 TPM3 NM_152263.4(TPM3):c.378-13C>T SNV Uncertain significance 292697 rs367548433 1:154145690-154145690 1:154173214-154173214
43 TPM3 NM_152263.4(TPM3):c.*4389G>T SNV Uncertain significance 292643 rs886045297 1:154136024-154136024 1:154163548-154163548
44 TPM3 NM_152263.4(TPM3):c.*5440A>C SNV Uncertain significance 292634 rs12064494 1:154134973-154134973 1:154162497-154162497
45 TPM3 NM_152263.4(TPM3):c.495+7G>C SNV Uncertain significance 292696 rs749792884 1:154145553-154145553 1:154173077-154173077
46 TPM3 NM_152263.4(TPM3):c.*5926T>C SNV Uncertain significance 292624 rs886045285 1:154134487-154134487 1:154162011-154162011
47 TPM3 NM_152263.4(TPM3):c.*489T>G SNV Uncertain significance 292686 rs886045312 1:154139924-154139924 1:154167448-154167448
48 TPM3 NM_152263.4(TPM3):c.*41C>G SNV Uncertain significance 292694 rs886045318 1:154140372-154140372 1:154167896-154167896
49 TPM3 NM_152263.4(TPM3):c.*2240C>T SNV Uncertain significance 292663 rs561949016 1:154138173-154138173 1:154165697-154165697
50 TPM3 NM_152263.4(TPM3):c.*3558G>A SNV Uncertain significance 292653 rs886045302 1:154136855-154136855 1:154164379-154164379

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
11.82 TPM3 TPM2
2
Show member pathways
11.53 TPM3 TPM2
3 11.1 TPM3 TPM2
4 10.66 TPM3 TPM2 ACTA1
5 10.51 TPM3 TPM2

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 TPM3 TPM2 ACTA1
2 actin cytoskeleton GO:0015629 9.33 TPM3 TPM2 ACTA1
3 stress fiber GO:0001725 9.32 TPM3 ACTA1
4 sarcomere GO:0030017 9.26 MYPN ACTA1
5 actin filament GO:0005884 9.13 TPM3 TPM2 ACTA1
6 muscle thin filament tropomyosin GO:0005862 8.62 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 9.16 TPM3 TPM2
2 muscle contraction GO:0006936 9.13 TPM3 TPM2 ACTA1
3 muscle filament sliding GO:0030049 8.8 TPM3 TPM2 ACTA1

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 TPM3 TPM2
2 actin binding GO:0003779 8.8 TPM3 TPM2 MYPN

Sources for Cap Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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