MCID: ORB002
MIFTS: 30

Orbit Embryonal Rhabdomyosarcoma

Categories: Bone diseases, Cancer diseases, Fetal diseases

Aliases & Classifications for Orbit Embryonal Rhabdomyosarcoma

MalaCards integrated aliases for Orbit Embryonal Rhabdomyosarcoma:

Name: Orbit Embryonal Rhabdomyosarcoma 12 15
Embryonal Rhabdomyosarcoma of the Orbit 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3258
NCIt 49 C6246
UMLS 71 C1335127

Summaries for Orbit Embryonal Rhabdomyosarcoma

MalaCards based summary : Orbit Embryonal Rhabdomyosarcoma, also known as embryonal rhabdomyosarcoma of the orbit, is related to orbit rhabdomyosarcoma and embryonal rhabdomyosarcoma. An important gene associated with Orbit Embryonal Rhabdomyosarcoma is MB (Myoglobin), and among its related pathways/superpathways are Development VEGF signaling via VEGFR2 - generic cascades and Transcriptional misregulation in cancer. Affiliated tissues include liver, breast and bone, and related phenotypes are Increased Nanog expression and Increased Nanog expression

Related Diseases for Orbit Embryonal Rhabdomyosarcoma

Diseases related to Orbit Embryonal Rhabdomyosarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 orbit rhabdomyosarcoma 29.7 TFAP2B PAX3 NF1 MYOG MB
2 embryonal rhabdomyosarcoma 29.5 PAX7 PAX3 MYOG MB FOXO1
3 rhabdomyosarcoma 29.1 PAX7 PAX3 MYOG MB FOXO1 FGFR4
4 exophthalmos 10.2
5 rare tumor 10.2
6 skeletal muscle neoplasm 10.1 MYOG MB
7 soft tissue sarcoma 10.1
8 medullomyoblastoma 10.1 MYOG MB
9 malignant mesenchymoma 10.1 MYOG MB
10 conventional leiomyosarcoma 10.1 PAX7 MYOG
11 adult malignant schwannoma 10.1 NF1 MYOG
12 cranial nerve neoplasm 10.0 NF1 MYOG
13 skin lipoma 10.0 NF1 HMGA2
14 horner's syndrome 10.0 NF1 MYOG
15 bilateral retinoblastoma 10.0 MYOG MB
16 reticulum cell sarcoma 10.0
17 sarcoma 10.0
18 spindle cell sarcoma 10.0
19 embryoma 10.0
20 reticulosarcoma 10.0
21 embryonal sarcoma 10.0
22 acute liver failure 10.0
23 neurofibromatosis, type iv, of riccardi 10.0
24 neurilemmoma 10.0
25 orbital cancer 10.0
26 conjunctivitis 10.0
27 cataract 10.0
28 keratoconjunctivitis 10.0
29 exposure keratitis 10.0
30 tetraploidy 10.0
31 frontal convexity meningioma 10.0 PIK3CA FGFR4
32 myopathy of extraocular muscle 10.0 PAX7 MYOG
33 conventional fibrosarcoma 10.0 PAX7 PAX3 MB
34 infantile myofibromatosis 10.0 MYOG MB
35 malignant triton tumor 10.0 NF1 MYOG MB
36 basal cell nevus syndrome 9.9 PAX7 PAX3 NF1
37 gas gangrene 9.9 PAX7 MYOG MB
38 cardiovascular cancer 9.9 NF1 MYOG
39 chondroma 9.9 NF1 HMGA2
40 muscle tissue disease 9.9 PAX7 MYOG MB
41 botryoid rhabdomyosarcoma 9.8 PAX3 MYOG MB
42 dedifferentiated liposarcoma 9.8 MYOG HMGA2
43 central nervous system mesenchymal non-meningothelial tumor 9.8 PAX7 PAX3 MYOG
44 central nervous system rhabdomyosarcoma 9.8 PAX3 FOXO1
45 clear cell basal cell carcinoma 9.8 PAX7 PAX3 MYOG
46 facioscapulohumeral muscular dystrophy 1 9.7 PAX7 PAX3 MYOG
47 mesenchymoma 9.7 MYOG MB HMGA2
48 mesenchymal cell neoplasm 9.7 NF1 MYOG HMGA2
49 proteus syndrome 9.6 PIK3CA NF1
50 mixed cell type cancer 9.6 PIK3CA MYOG

Graphical network of the top 20 diseases related to Orbit Embryonal Rhabdomyosarcoma:



Diseases related to Orbit Embryonal Rhabdomyosarcoma

Symptoms & Phenotypes for Orbit Embryonal Rhabdomyosarcoma

GenomeRNAi Phenotypes related to Orbit Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.02 TFAP2B
2 Increased Nanog expression GR00371-A-3 9.02 FANCD2 PAX3 TFAP2B
3 Increased Nanog expression GR00371-A-5 9.02 TFAP2B

MGI Mouse Phenotypes related to Orbit Embryonal Rhabdomyosarcoma:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 FANCD2 FGFR4 FOXO1 MB MYOG NF1
2 behavior/neurological MP:0005386 10.19 FANCD2 FGFR4 FOXO1 MYOG NF1 PAX3
3 growth/size/body region MP:0005378 10.19 FANCD2 FGFR4 FOXO1 MB MYOG NF1
4 homeostasis/metabolism MP:0005376 10.18 FANCD2 FGFR4 FOXO1 MB MYOG NF1
5 mortality/aging MP:0010768 10.1 FANCD2 FGFR4 FOXO1 MB MYOG NF1
6 embryo MP:0005380 10.05 FOXO1 MB MYOG NF1 PAX3 PAX7
7 integument MP:0010771 10 FOXO1 MYOG NF1 PAX3 PAX7 PIK3CA
8 muscle MP:0005369 9.97 FOXO1 MB MYOG NF1 PAX3 PAX7
9 neoplasm MP:0002006 9.87 FANCD2 FGFR4 FOXO1 NF1 PAX3 PAX7
10 limbs/digits/tail MP:0005371 9.83 FANCD2 FOXO1 NF1 PAX3 TFAP2B
11 respiratory system MP:0005388 9.7 FGFR4 MB MYOG NF1 PAX3 PAX7
12 no phenotypic analysis MP:0003012 9.65 FOXO1 MYOG PAX3 PAX7 PIK3CA
13 skeleton MP:0005390 9.5 FGFR4 FOXO1 MYOG NF1 PAX3 PAX7
14 vision/eye MP:0005391 9.1 FANCD2 NF1 PAX3 PAX7 PIK3CA TFAP2B

Drugs & Therapeutics for Orbit Embryonal Rhabdomyosarcoma

Search Clinical Trials , NIH Clinical Center for Orbit Embryonal Rhabdomyosarcoma

Genetic Tests for Orbit Embryonal Rhabdomyosarcoma

Anatomical Context for Orbit Embryonal Rhabdomyosarcoma

MalaCards organs/tissues related to Orbit Embryonal Rhabdomyosarcoma:

40
Liver, Breast, Bone, Skeletal Muscle, Skin, Prostate

Publications for Orbit Embryonal Rhabdomyosarcoma

Articles related to Orbit Embryonal Rhabdomyosarcoma:

(show all 24)
# Title Authors PMID Year
1
Embryonal rhabdomyosarcoma of the orbit in a liver transplant recipient. 61
12819877 2003
2
Microsatellite instability in three cases of embryonal rhabdomyosarcoma of the orbit. 61
12116063 2002
3
Letter to the editor: neurofibromatosis type 1 (NF 1) associated with embryonal rhabdomyosarcoma of the orbit. 61
11984810 2002
4
Embryonal rhabdomyosarcoma of the orbit in a 38-year-old woman. 61
11338467 2001
5
Findings of magnetic resonance and colour-flow Doppler imaging of orbital embryonal rhabdomyosarcoma. 61
8193970 1994
6
Embryonal rhabdomyosarcoma of the orbit in a 35-year-old man. 61
8058268 1994
7
[Embryonal rhabdomyosarcoma of the orbit]. 61
8186204 1994
8
[Leiomyosarcoma of the breast 16 years following successful treatment of a rhabdomyosarcoma of the orbit in childhood]. 61
1411391 1992
9
[Immunocytochemical diagnosis of embryonal rhabdomyosarcoma of the orbit]. 61
2681959 1989
10
Cell necrosis and endocytosis (apoptosis) in an embryonal rhabdomyosarcoma of the orbit. 61
6654047 1983
11
[Treatment of orbital rhabdomyosarcoma (author's transl)]. 61
7099686 1982
12
[An embryonal rhabdomyosarcoma of the orbit in a young adult]. 61
7184550 1982
13
[Embryonal rhabdomyosarcoma of the orbit -- a totally extirpated case with long-term survival (author's transl)]. 61
6163098 1980
14
Orbital embryonal rhabdomyosarcoma and intracranial schwannoma. 61
314794 1979
15
[Embryonal rhabdomyosarcoma of the orbit. Apropos of 24 cases]. 61
140644 1976
16
Electron microscopic and electron histochemical studies on embryonal rhabdomyosarcoma of the orbit. 61
169642 1975
17
[A case of embryonal rhabdomyosarcoma of the orbit]. 61
5317157 1971
18
Intracranial extension of a non-striated embryonal rhabdomyosarcoma of the orbit. 61
5777351 1969
19
[Embryonal rhabdomyosarcoma of the orbit. Anatomoclinical study]. 61
5736377 1968
20
[Embryonal rhabdomyosarcoma of the orbit]. 61
5606000 1967
21
Embryonal rhabdomyosarcoma of the orbit. 61
6079091 1967
22
[Case of embryonal rhabdomyosarcoma of the orbit]. 61
6010376 1966
23
Embryonal sarcoma and embryonal rhabdomyosarcoma of the orbit. 61
4284785 1965
24
Embryonal rhabdomyosarcoma of the orbit in children and young adults. 61
13669797 1959

Variations for Orbit Embryonal Rhabdomyosarcoma

Cosmic variations for Orbit Embryonal Rhabdomyosarcoma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM145172218 soft tissue,orbit,rhabdomyosarcoma,embryonal c.2542G>A p.D848N 2:29214054-29214054 0

Expression for Orbit Embryonal Rhabdomyosarcoma

Search GEO for disease gene expression data for Orbit Embryonal Rhabdomyosarcoma.

Pathways for Orbit Embryonal Rhabdomyosarcoma

Pathways related to Orbit Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 PIK3CA NF1 FOXO1
2 11.19 PAX7 PAX3 HMGA2 FOXO1
3 11.14 TFAP2B PAX7 PAX3
4 10.63 PIK3CA FOXO1

GO Terms for Orbit Embryonal Rhabdomyosarcoma

Cellular components related to Orbit Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.02 TFAP2B PAX7 PAX3 MYOG FOXO1

Biological processes related to Orbit Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1
2 negative regulation of apoptotic process GO:0043066 9.81 TFAP2B PAX7 HMGA2 FOXO1
3 regulation of gene expression GO:0010468 9.73 PIK3CA PAX7 NF1
4 positive regulation of transcription, DNA-templated GO:0045893 9.72 TFAP2B PAX3 MYOG HMGA2 FOXO1
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1
6 glucose homeostasis GO:0042593 9.58 TFAP2B FOXO1 FGFR4
7 energy homeostasis GO:0097009 9.55 PIK3CA FOXO1
8 phosphatidylinositol 3-kinase signaling GO:0014065 9.54 PIK3CA NF1
9 muscle organ development GO:0007517 9.54 PAX7 PAX3 MYOG
10 positive regulation of cell cycle arrest GO:0071158 9.52 MYOG HMGA2
11 skeletal muscle tissue regeneration GO:0043403 9.49 PAX7 MYOG
12 neuronal stem cell population maintenance GO:0097150 9.48 FOXO1 FANCD2
13 sympathetic nervous system development GO:0048485 9.46 TFAP2B NF1
14 fat cell differentiation GO:0045444 9.43 TFAP2B HMGA2 FOXO1
15 phosphate ion homeostasis GO:0055062 8.96 TFAP2B FGFR4
16 skeletal muscle tissue development GO:0007519 8.8 PAX7 NF1 MYOG

Molecular functions related to Orbit Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.73 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 TFAP2B PAX7 PAX3 MYOG FOXO1
3 DNA-binding transcription factor activity GO:0003700 9.35 TFAP2B PAX7 PAX3 MYOG FOXO1
4 sequence-specific DNA binding GO:0043565 9.02 TFAP2B PAX7 PAX3 MYOG FOXO1

Sources for Orbit Embryonal Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....