MCID: ORB002
MIFTS: 30

Orbit Embryonal Rhabdomyosarcoma

Categories: Bone diseases, Cancer diseases, Fetal diseases
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Aliases & Classifications for Orbit Embryonal Rhabdomyosarcoma

MalaCards integrated aliases for Orbit Embryonal Rhabdomyosarcoma:

Name: Orbit Embryonal Rhabdomyosarcoma 11 14
Embryonal Rhabdomyosarcoma of the Orbit 11

Classifications:



External Ids:

Disease Ontology 11 DOID:3258
NCIt 49 C6246
UMLS 71 C1335127

Summaries for Orbit Embryonal Rhabdomyosarcoma

Disease Ontology: 11 An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei.

MalaCards based summary: Orbit Embryonal Rhabdomyosarcoma, also known as embryonal rhabdomyosarcoma of the orbit, is related to mesenchymal cell neoplasm 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 MAPK Signaling: Mitogens. Affiliated tissues include skeletal muscle, bone and breast, and related phenotypes are Increased cell migration 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 82)
# Related Disease Score Top Affiliating Genes
1 mesenchymal cell neoplasm 29.9 NF1 MYOG HMGA2
2 embryonal rhabdomyosarcoma 29.6 PAX7 PAX3 NF1 MYOG MB FOXO1
3 sarcoma 29.4 PIK3CA MYOG MB FOXO1
4 rhabdomyosarcoma 28.8 PIK3CA PAX7 PAX3 NF1 MYOG MB
5 orbit rhabdomyosarcoma 28.7 TFAP2B PAX7 PAX3 NF1 MYOG MB
6 rare tumor 10.3
7 neurofibromatosis, type i 10.2
8 neurofibromatosis-noonan syndrome 10.2
9 blastoma 10.2
10 reticulosarcoma 10.2
11 neurofibromatosis 10.2
12 embryonal sarcoma 10.2
13 acute liver failure 10.2
14 skeletal muscle neoplasm 10.1 MYOG MB
15 medullomyoblastoma 10.1 MYOG MB
16 malignant glandular tumor of peripheral nerve sheath 10.1 NF1 MYOG
17 malignant mesenchymoma 10.1 MYOG MB
18 conventional leiomyosarcoma 10.1 PAX7 MYOG
19 epithelioid malignant peripheral nerve sheath tumor 10.1 NF1 MYOG
20 thymus lipoma 10.1 MB HMGA2
21 adult malignant schwannoma 10.1 NF1 MYOG
22 immune system organ benign neoplasm 10.1 MB HMGA2
23 mediastinal lipomatosis 10.0 MB HMGA2
24 chest wall lipoma 10.0 NF1 HMGA2
25 skin lipoma 10.0 NF1 HMGA2
26 carey-fineman-ziter syndrome 1 10.0 PAX7 MYOG
27 oral rhabdomyosarcoma 10.0 PAX3 MYOG
28 sturge-weber syndrome 10.0 PIK3CA NF1
29 adult fibrosarcoma 10.0 PAX3 MYOG
30 proteus syndrome 10.0 PIK3CA NF1
31 chondroma 10.0 NF1 HMGA2
32 malignant triton tumor 10.0 NF1 MYOG MB
33 gas gangrene 10.0 PAX7 MYOG MB
34 basal cell nevus syndrome 10.0 PAX7 PAX3 NF1
35 lipomatosis 10.0 PIK3CA HMGA2
36 emery-dreifuss muscular dystrophy 2, autosomal dominant 10.0 PAX7 MYOG
37 inflammatory leiomyosarcoma 9.9 PAX7 NF1 MYOG
38 schimmelpenning-feuerstein-mims syndrome 9.9 PIK3CA NF1
39 muscle tissue disease 9.9 PAX7 MYOG MB
40 botryoid rhabdomyosarcoma 9.9 PAX3 MYOG MB
41 prostate embryonal rhabdomyosarcoma 9.9 PAX3 MYOG MB
42 retroperitoneal sarcoma 9.9 MYOG HMGA2
43 mixed cell type cancer 9.9 PIK3CA MYOG
44 pleomorphic liposarcoma 9.9 MYOG HMGA2
45 alveolar soft part sarcoma 9.9 PAX3 MYOG MB
46 central nervous system rhabdomyosarcoma 9.9 PAX3 FOXO1
47 branchiooculofacial syndrome 9.9 TFAP2B PAX3
48 spindle cell sarcoma 9.9 PAX3 NF1 MYOG
49 central nervous system mesenchymal non-meningothelial tumor 9.9 PAX7 PAX3 MYOG
50 ectomesenchymoma 9.9 PAX7 PAX3 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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell migration GR00055-A-1 9.26 FGFR4 NF1
2 Increased cell migration GR00055-A-3 9.26 FGFR4 NF1
3 Increased Nanog expression GR00371-A-1 9.02 TFAP2B
4 Increased Nanog expression GR00371-A-3 9.02 FANCD2 PAX3 TFAP2B
5 Increased Nanog expression GR00371-A-5 9.02 TFAP2B

MGI Mouse Phenotypes related to Orbit Embryonal Rhabdomyosarcoma:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 FANCD2 FGFR4 FOXO1 HMGA2 MB MYOG
2 growth/size/body region MP:0005378 10.24 FANCD2 FGFR4 FOXO1 HMGA2 MB MYOG
3 neoplasm MP:0002006 10.16 FANCD2 FGFR4 FOXO1 HMGA2 NF1 PAX3
4 muscle MP:0005369 10.14 FOXO1 MB MYOG NF1 PAX3 PAX7
5 cellular MP:0005384 10.11 FANCD2 FGFR4 FOXO1 HMGA2 MB MYOG
6 endocrine/exocrine gland MP:0005379 10.02 FANCD2 FOXO1 HMGA2 NF1 PAX3 PAX7
7 behavior/neurological MP:0005386 10.02 FANCD2 FOXO1 HMGA2 MB MYOG NF1
8 limbs/digits/tail MP:0005371 10 FANCD2 FOXO1 HMGA2 NF1 PAX3 TFAP2B
9 embryo MP:0005380 10 FOXO1 MB MYOG NF1 PAX3 PAX7
10 no phenotypic analysis MP:0003012 9.95 FOXO1 MYOG PAX3 PAX7 PIK3CA
11 digestive/alimentary MP:0005381 9.91 FOXO1 HMGA2 NF1 PAX3 PAX7 PIK3CA
12 craniofacial MP:0005382 9.88 FOXO1 HMGA2 NF1 PAX3 PAX7 TFAP2B
13 respiratory system MP:0005388 9.8 FGFR4 MB MYOG NF1 PAX3 PAX7
14 skeleton MP:0005390 9.7 FOXO1 HMGA2 MYOG NF1 PAX3 PAX7
15 mortality/aging MP:0010768 9.7 FANCD2 FGFR4 FOXO1 HMGA2 MB MYOG
16 integument MP:0010771 9.23 FOXO1 HMGA2 MYOG NF1 PAX3 PAX7

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

Organs/tissues related to Orbit Embryonal Rhabdomyosarcoma:

MalaCards : Skeletal Muscle, Bone, Breast, Liver

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. 62
12819877 2003
2
Microsatellite instability in three cases of embryonal rhabdomyosarcoma of the orbit. 62
12116063 2002
3
Letter to the editor: neurofibromatosis type 1 (NF 1) associated with embryonal rhabdomyosarcoma of the orbit. 62
11984810 2002
4
Embryonal rhabdomyosarcoma of the orbit in a 38-year-old woman. 62
11338467 2001
5
Findings of magnetic resonance and colour-flow Doppler imaging of orbital embryonal rhabdomyosarcoma. 62
8193970 1994
6
Embryonal rhabdomyosarcoma of the orbit in a 35-year-old man. 62
8058268 1994
7
[Embryonal rhabdomyosarcoma of the orbit]. 62
8186204 1994
8
[Leiomyosarcoma of the breast 16 years following successful treatment of a rhabdomyosarcoma of the orbit in childhood]. 62
1411391 1992
9
[Immunocytochemical diagnosis of embryonal rhabdomyosarcoma of the orbit]. 62
2681959 1989
10
Cell necrosis and endocytosis (apoptosis) in an embryonal rhabdomyosarcoma of the orbit. 62
6654047 1983
11
[An embryonal rhabdomyosarcoma of the orbit in a young adult]. 62
7184550 1982
12
[Treatment of orbital rhabdomyosarcoma (author's transl)]. 62
7099686 1982
13
[Embryonal rhabdomyosarcoma of the orbit -- a totally extirpated case with long-term survival (author's transl)]. 62
6163098 1980
14
Orbital embryonal rhabdomyosarcoma and intracranial schwannoma. 62
314794 1979
15
[Embryonal rhabdomyosarcoma of the orbit. Apropos of 24 cases]. 62
140644 1976
16
Electron microscopic and electron histochemical studies on embryonal rhabdomyosarcoma of the orbit. 62
169642 1975
17
[A case of embryonal rhabdomyosarcoma of the orbit]. 62
5317157 1971
18
Intracranial extension of a non-striated embryonal rhabdomyosarcoma of the orbit. 62
5777351 1969
19
[Embryonal rhabdomyosarcoma of the orbit. Anatomoclinical study]. 62
5736377 1968
20
[Embryonal rhabdomyosarcoma of the orbit]. 62
5606000 1967
21
Embryonal rhabdomyosarcoma of the orbit. 62
6079091 1967
22
[Case of embryonal rhabdomyosarcoma of the orbit]. 62
6010376 1966
23
Embryonal sarcoma and embryonal rhabdomyosarcoma of the orbit. 62
4284785 1965
24
Embryonal rhabdomyosarcoma of the orbit in children and young adults. 62
13669797 1959

Variations for Orbit Embryonal Rhabdomyosarcoma

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
11.89 PIK3CA NF1 FOXO1
2
Show member pathways
11.76 PIK3CA FOXO1 FGFR4
3 11.59 PIK3CA NF1 FGFR4
4 11.14 TFAP2B PAX7 PAX3
5 11.02 PIK3CA FOXO1
6 10.78 PAX7 PAX3 MYOG
7 10.73 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 chromatin GO:0000785 9.44 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.11 TFAP2B PAX3 MYOG HMGA2 FOXO1
2 glucose homeostasis GO:0042593 9.83 TFAP2B FOXO1 FGFR4
3 neuronal stem cell population maintenance GO:0097150 9.78 FOXO1 FANCD2
4 muscle organ development GO:0007517 9.77 PAX7 PAX3 MYOG
5 sympathetic nervous system development GO:0048485 9.71 TFAP2B NF1
6 regulation of DNA-templated transcription GO:0006355 9.7 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1
7 phosphate ion homeostasis GO:0055062 9.62 FGFR4 TFAP2B
8 smooth muscle tissue development GO:0048745 9.56 TFAP2B NF1
9 fat cell differentiation GO:0045444 9.43 TFAP2B HMGA2 FOXO1
10 anatomical structure development GO:0048856 9.17 TFAP2B PAX7 PAX3 MYOG

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.56 TFAP2B PAX3 MYOG FOXO1
2 DNA-binding transcription factor activity GO:0003700 9.32 TFAP2B PAX7 PAX3 MYOG FOXO1

Sources for Orbit Embryonal Rhabdomyosarcoma

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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