MCID: SKL002
MIFTS: 33

Skeletal Muscle Neoplasm

Categories: Bone diseases, Cancer diseases, Muscle diseases

Aliases & Classifications for Skeletal Muscle Neoplasm

MalaCards integrated aliases for Skeletal Muscle Neoplasm:

Name: Skeletal Muscle Neoplasm 12 15
Tumor of Skeletal Muscle 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4044
NCIt 51 C6514
UMLS 74 C1335971

Summaries for Skeletal Muscle Neoplasm

MalaCards based summary : Skeletal Muscle Neoplasm, also known as tumor of skeletal muscle, is related to skeletal muscle cancer and rhabdomyosarcoma. An important gene associated with Skeletal Muscle Neoplasm is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and TNFR1 Pathway. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Related Diseases for Skeletal Muscle Neoplasm

Diseases related to Skeletal Muscle Neoplasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 skeletal muscle cancer 28.0 CDK4 CDKN1A FOXO1 IGF1R IGF2 JDP2
2 rhabdomyosarcoma 27.7 CDK4 FOXO1 IGF1R IGF2 MB MYF5
3 mesenchymoma 10.4 MB MYOD1
4 hemophagocytic lymphohistiocytosis, familial, 1 10.3 MYF6 MYOD1
5 malignant triton tumor 10.3 MB MYOD1
6 botryoid rhabdomyosarcoma 10.3 MB MYOD1 PAX3
7 alveolar soft part sarcoma 10.2 MB MYF6 MYOD1
8 meninges sarcoma 10.2 IGF2 MB
9 orbit rhabdomyosarcoma 10.2 MB MYOG
10 rhabdoid tumor predisposition syndrome 1 10.2 IGF1R IGF2 MYOD1
11 spindle cell rhabdomyosarcoma 10.1 MB MYOD1
12 central nervous system mesenchymal non-meningothelial tumor 10.1 FOXO1 MYF6 MYOD1 PAX3
13 gallbladder sarcoma 10.1 MYOD1 MYOG
14 pleomorphic rhabdomyosarcoma 10.1 FOXO1 MB MYOD1 PAX3
15 malignant fibrous histiocytoma of bone 10.1 CDK4 MYOD1
16 adult fibrosarcoma 10.1 MB MYOD1 MYOG
17 medullomyoblastoma 10.1 MB MYOD1 MYOG
18 spindle cell lipoma 10.1 CDK4 FOXO1
19 undifferentiated embryonal sarcoma of the liver 10.0 CDK4 MYOD1 MYOG
20 embryonal sarcoma 10.0 CDK4 MYOD1 MYOG
21 spindle cell liposarcoma 10.0 CDK4 MYOD1 MYOG
22 breast rhabdomyosarcoma 10.0 FOXO1 MB MYOD1 MYOG
23 leiomyosarcoma 9.9 CDK4 IGF2 MB MYOG
24 retinal cancer 9.9 CDK2 CDK4 CDKN1A CDKN1B
25 ocular cancer 9.9 CDK2 CDK4 CDKN1A CDKN1B
26 myoma 9.8
27 rapidly involuting congenital hemangioma 9.8
28 nervous system cancer 9.8 CDK2 CDK4 CDKN1A CDKN1B
29 papilloma 9.8 CDKN1A CDKN1B IGF2
30 glioblastoma multiforme 9.7 CDK2 CDK4 CDKN1A IGF1R
31 malignant mesenchymoma 9.7 CDK4 CDKN1A MB MYOD1 MYOG
32 embryonal rhabdomyosarcoma 9.7 FOXO1 IGF2 MB MYOD1 MYOG PAX3
33 inflammatory leiomyosarcoma 9.7 MYF5 MYF6 MYOD1 MYOG
34 conventional leiomyosarcoma 9.7 MYF5 MYF6 MYOD1 MYOG
35 extraosseous ewing's sarcoma 9.7 MYF5 MYF6 MYOD1 MYOG
36 large intestine cancer 9.6 CDK2 CDK4 CDKN1A IGF1R IGF2
37 glioblastoma 9.6 CDK2 CDK4 CDKN1A CDKN1B IGF1R
38 endometrial cancer 9.4 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
39 rhabdomyosarcoma 2 9.3 CDK4 FOXO1 IGF1R MB MYOD1 MYOG
40 prostate cancer 9.2 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
41 muscle cancer 9.1 FOXO1 IGF2 MB MYF5 MYOD1 MYOG
42 muscular disease 9.0 FOXO1 IGF2 MB MYF5 MYF6 MYOD1
43 ewing sarcoma 9.0 CDK2 CDK4 CDKN1A FOXO1 IGF1R IGF2

Graphical network of the top 20 diseases related to Skeletal Muscle Neoplasm:



Diseases related to Skeletal Muscle Neoplasm

Symptoms & Phenotypes for Skeletal Muscle Neoplasm

GenomeRNAi Phenotypes related to Skeletal Muscle Neoplasm according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.81 CDK2 IGF1R
2 Decreased substrate adherent cell growth GR00193-A-2 9.81 CDK2 CDK4
3 Decreased substrate adherent cell growth GR00193-A-3 9.81 CDK2 CDK4
4 Decreased substrate adherent cell growth GR00193-A-4 9.81 CDK2 CDK4 IGF1R
5 Decreased viability in esophageal squamous lineage GR00235-A 9.65 ACHE CDK2 CDKN1B IGF1R MB MYF6
6 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 9.43 CDK2 CDK4 CDKN1B
7 Reduced mammosphere formation GR00396-S 9.17 CDK4 FOXO1 IGF1R IGF2 MYF5 NACA

MGI Mouse Phenotypes related to Skeletal Muscle Neoplasm:

47 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.53 ACHE CDK2 CDK4 CDKN1A CDKN1B FOXO1
2 homeostasis/metabolism MP:0005376 10.51 ACHE CDK2 CDK4 CDKN1A CDKN1B FOXO1
3 cellular MP:0005384 10.45 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
4 mortality/aging MP:0010768 10.45 ACHE CDK2 CDK4 CDKN1A CDKN1B FOXO1
5 behavior/neurological MP:0005386 10.43 ACHE CDK4 CDKN1A CDKN1B FOXO1 IGF1R
6 embryo MP:0005380 10.43 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
7 cardiovascular system MP:0005385 10.42 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
8 muscle MP:0005369 10.41 ACHE CDK2 CDK4 CDKN1A CDKN1B FOXO1
9 hematopoietic system MP:0005397 10.38 ACHE CDK2 CDK4 CDKN1A CDKN1B FOXO1
10 adipose tissue MP:0005375 10.32 ACHE CDKN1A CDKN1B FOXO1 IGF1R JDP2
11 craniofacial MP:0005382 10.3 ACHE CDKN1A CDKN1B FOXO1 IGF1R IGF2
12 immune system MP:0005387 10.29 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
13 integument MP:0010771 10.28 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
14 nervous system MP:0003631 10.17 ACHE CDK4 CDKN1A CDKN1B IGF1R IGF2
15 neoplasm MP:0002006 10.16 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
16 digestive/alimentary MP:0005381 10.14 CDK4 CDKN1A CDKN1B FOXO1 IGF1R IGF2
17 limbs/digits/tail MP:0005371 10.13 CDKN1A FOXO1 IGF1R IGF2 JDP2 MEF2C
18 liver/biliary system MP:0005370 10.11 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
19 no phenotypic analysis MP:0003012 10.1 ACHE CDKN1A CDKN1B FOXO1 IGF2 MYF5
20 normal MP:0002873 10.07 CDK4 FOXO1 JDP2 MEF2C MYF5 MYF6
21 respiratory system MP:0005388 9.97 ACHE CDKN1A CDKN1B IGF1R IGF2 MB
22 reproductive system MP:0005389 9.96 ACHE CDK2 CDK4 CDKN1A CDKN1B FOXO1
23 renal/urinary system MP:0005367 9.87 CDK4 CDKN1A CDKN1B IGF2 MEF2C PAX3
24 skeleton MP:0005390 9.8 CDKN1A CDKN1B FOXO1 IGF1R IGF2 JDP2
25 vision/eye MP:0005391 9.32 ACHE CDK2 CDK4 CDKN1A CDKN1B IGF2

Drugs & Therapeutics for Skeletal Muscle Neoplasm

Search Clinical Trials , NIH Clinical Center for Skeletal Muscle Neoplasm

Genetic Tests for Skeletal Muscle Neoplasm

Anatomical Context for Skeletal Muscle Neoplasm

MalaCards organs/tissues related to Skeletal Muscle Neoplasm:

42
Skeletal Muscle

Publications for Skeletal Muscle Neoplasm

Articles related to Skeletal Muscle Neoplasm:

# Title Authors Year
1
Infiltrating hybrid mesenchymal tumor of skeletal muscle showing lipomatous, hemangiomatous, leiomyomatous and osseous features - An unusual soft tissue tumor providing insight into the pathogenesis of lipoma variants. ( 25817304 )
2015

Variations for Skeletal Muscle Neoplasm

Expression for Skeletal Muscle Neoplasm

Search GEO for disease gene expression data for Skeletal Muscle Neoplasm.

Pathways for Skeletal Muscle Neoplasm

Pathways related to Skeletal Muscle Neoplasm according to GeneCards Suite gene sharing:

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
2
Show member pathways
12.91 CDKN1A IGF1R IGF2 MEF2C MYF6 MYOD1
3
Show member pathways
12.82 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
4 12.76 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
5
Show member pathways
12.71 CDK2 CDK4 CDKN1A CDKN1B IGF1R IGF2
6
Show member pathways
12.65 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
7 12.46 CDK2 CDK4 CDKN1A CDKN1B
8
Show member pathways
12.35 CDKN1A CDKN1B IGF1R IGF2
9
Show member pathways
12.34 CDK2 CDK4 CDKN1A CDKN1B
10 12.32 CDK2 CDK4 CDKN1A CDKN1B
11
Show member pathways
12.31 CDK2 CDK4 CDKN1A CDKN1B
12 12.25 CDK2 CDK4 CDKN1A CDKN1B
13
Show member pathways
12.18 CDK2 CDK4 CDKN1A CDKN1B
14 12.15 CDKN1A CDKN1B FOXO1 IGF1R MEF2C PAX3
15 12.13 CDK2 CDK4 CDKN1A FOXO1
16
Show member pathways
12.09 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
17
Show member pathways
12.01 CDK2 CDKN1A CDKN1B FOXO1 IGF1R
18 12 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
19
Show member pathways
11.95 CDKN1A IGF1R IGF2 MEF2C MYF6 MYOD1
20 11.9 CDKN1A MEF2C NACA
21 11.89 CDKN1A CDKN1B IGF1R
22
Show member pathways
11.87 CDK2 CDKN1A CDKN1B
23 11.86 CDKN1A CDKN1B IGF1R
24 11.85 CDK4 CDKN1B FOXO1
25 11.83 FOXO1 MEF2C MYOD1
26 11.83 CDK2 CDK4 CDKN1A CDKN1B
27 11.79 CDK2 CDK4 CDKN1A CDKN1B
28
Show member pathways
11.78 CDKN1A CDKN1B FOXO1
29 11.72 CDKN1A CDKN1B MYF6 MYOD1
30 11.7 CDK2 CDKN1A CDKN1B
31 11.64 IGF1R IGF2 MEF2C
32 11.64 CDK2 CDK4 CDKN1B IGF1R
33 11.56 ACHE CDK4 JDP2
34 11.52 CDK2 CDK4 CDKN1A FOXO1 MEF2C MYOD1
35 11.49 CDK2 CDKN1A CDKN1B
36 11.49 CDK2 CDKN1B FOXO1
37
Show member pathways
11.48 MEF2C MYF5 MYF6 MYOD1 MYOG
38 11.44 CDK2 CDK4 CDKN1A
39 11.42 CDK2 CDK4 CDKN1A CDKN1B
40 11.38 CDKN1A FOXO1 MYOD1
41 11.34 MEF2C MYF5 MYOD1
42 11.27 CDK2 CDK4 CDKN1A
43 11.21 CDK2 CDK4 CDKN1A CDKN1B FOXO1 IGF1R
44 11.18 CDK2 CDKN1A CDKN1B MEF2C MYOD1 PAX3
45 10.89 CDK2 MYOD1

GO Terms for Skeletal Muscle Neoplasm

Cellular components related to Skeletal Muscle Neoplasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 CDK2 CDK4 CDKN1A CDKN1B FOXO1 MEF2C
2 transcription factor complex GO:0005667 9.56 CDK2 CDK4 MYOD1 MYOG
3 nucleus GO:0005634 9.53 ACHE CDK2 CDK4 CDKN1A CDKN1B FOXO1
4 cyclin-dependent protein kinase holoenzyme complex GO:0000307 9.33 CDK2 CDK4 CDKN1A

Biological processes related to Skeletal Muscle Neoplasm according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 CDK4 CDKN1A CDKN1B TFAP2B
2 glucose homeostasis GO:0042593 9.84 FOXO1 IGF1R TFAP2B
3 G1/S transition of mitotic cell cycle GO:0000082 9.84 CDK2 CDK4 CDKN1A CDKN1B
4 transcription by RNA polymerase II GO:0006366 9.83 MEF2C NFIC PAX3 TFAP2B
5 ossification GO:0001503 9.81 IGF2 MYF5 MYOG
6 insulin receptor signaling pathway GO:0008286 9.8 FOXO1 IGF1R IGF2
7 skeletal muscle tissue development GO:0007519 9.8 MEF2C MYF5 MYF6 MYOD1 MYOG
8 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.78 CDK2 CDKN1A CDKN1B
9 skeletal muscle cell differentiation GO:0035914 9.77 MEF2C MYF5 MYF6 MYOD1 MYOG
10 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.75 CDKN1A CDKN1B MEF2C
11 positive regulation of myoblast fusion GO:1901741 9.73 MYF5 MYF6 MYOD1 MYOG
12 skeletal muscle tissue regeneration GO:0043403 9.72 MYF6 MYOG NACA
13 myotube differentiation GO:0014902 9.69 MEF2C MYOD1 MYOG
14 cellular response to nitric oxide GO:0071732 9.66 CDK2 FOXO1
15 negative regulation of phosphorylation GO:0042326 9.65 CDKN1A CDKN1B
16 striated muscle cell differentiation GO:0051146 9.65 IGF2 MYOD1
17 positive regulation of muscle cell differentiation GO:0051149 9.65 MEF2C MYF5 MYF6 MYOD1 MYOG
18 response to hyperoxia GO:0055093 9.64 CDK4 CDKN1A
19 cellular response to lithium ion GO:0071285 9.63 CDKN1B MYOG
20 positive regulation of skeletal muscle fiber development GO:0048743 9.62 MYF5 MYF6 MYOD1 MYOG
21 muscle tissue morphogenesis GO:0060415 9.6 MYF5 MYF6
22 negative regulation of cyclin-dependent protein kinase activity GO:1904030 9.58 CDKN1A CDKN1B
23 muscle cell fate commitment GO:0042693 9.46 MYF5 MYF6 MYOD1 MYOG
24 positive regulation of myoblast differentiation GO:0045663 9.35 MEF2C MYF5 MYF6 MYOD1 MYOG
25 muscle organ development GO:0007517 9.17 ACHE MEF2C MYF5 MYF6 MYOD1 MYOG
26 regulation of transcription, DNA-templated GO:0006355 10.22 FOXO1 IGF2 JDP2 MEF2C MYF5 MYF6
27 regulation of transcription by RNA polymerase II GO:0006357 10.16 CDKN1A FOXO1 JDP2 MYF5 MYF6 MYOD1
28 multicellular organism development GO:0007275 10.16 IGF2 MEF2C MYF5 MYF6 MYOD1 MYOG
29 positive regulation of transcription by RNA polymerase II GO:0045944 10.16 FOXO1 IGF2 MEF2C MYF5 MYF6 MYOD1
30 negative regulation of transcription by RNA polymerase II GO:0000122 10.1 CDK2 FOXO1 IGF2 JDP2 MEF2C NFIC
31 positive regulation of transcription, DNA-templated GO:0045893 10.1 CDK2 FOXO1 MEF2C MYF6 MYOD1 MYOG
32 cell differentiation GO:0030154 10.07 FOXO1 MEF2C MYF5 MYF6 MYOD1 MYOG
33 negative regulation of apoptotic process GO:0043066 10.05 CDKN1A CDKN1B FOXO1 IGF1R TFAP2B
34 negative regulation of transcription, DNA-templated GO:0045892 10.04 CDKN1B FOXO1 MYF6 NFIC TFAP2B
35 positive regulation of cell proliferation GO:0008284 10.04 CDK2 CDK4 CDKN1B IGF1R IGF2 TFAP2B

Molecular functions related to Skeletal Muscle Neoplasm according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.95 JDP2 MEF2C MYF5 MYF6 MYOD1 MYOG
2 chromatin binding GO:0003682 9.92 FOXO1 JDP2 MEF2C MYOD1 TFAP2B
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.85 MEF2C MYOD1 MYOG TFAP2B
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.81 MYF5 MYF6 MYOD1 MYOG
5 proximal promoter sequence-specific DNA binding GO:0000987 9.67 MEF2C MYOG NFIC
6 cyclin binding GO:0030332 9.65 CDK2 CDK4 CDKN1B
7 protein dimerization activity GO:0046983 9.63 MEF2C MYF5 MYF6 MYOD1 MYOG TFAP2B
8 E-box binding GO:0070888 9.62 MYF5 MYF6 MYOD1 MYOG
9 DNA-binding transcription factor activity GO:0003700 9.61 FOXO1 JDP2 MEF2C MYF6 MYOD1 MYOG
10 HMG box domain binding GO:0071837 9.56 MEF2C PAX3
11 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.56 CDK2 CDK4 CDKN1A CDKN1B
12 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.54 CDKN1A CDKN1B
13 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.23 JDP2 MEF2C MYF5 MYF6 MYOD1 MYOG
14 DNA binding GO:0003677 10.17 FOXO1 JDP2 MEF2C MYF5 MYF6 MYOD1
15 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.07 FOXO1 JDP2 MEF2C MYF5 MYF6 MYOD1
16 sequence-specific DNA binding GO:0043565 10 FOXO1 MEF2C MYF5 MYOD1 MYOG PAX3

Sources for Skeletal Muscle Neoplasm

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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