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 50 C6246
UMLS 70 C1335127

Summaries for Orbit Embryonal Rhabdomyosarcoma

Disease Ontology : 12 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 embryonal rhabdomyosarcoma and 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 Neural Crest Differentiation. Affiliated tissues include skeletal muscle, breast and liver, 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 63)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 30.1 PAX7 PAX3 MYOG MB FOXO1
2 rhabdomyosarcoma 28.6 PIK3CA PAX7 PAX3 NF1 MYOG MB
3 orbit rhabdomyosarcoma 28.5 TFAP2B PAX7 PAX3 NF1 MYOG MB
4 exophthalmos 10.4
5 rare tumor 10.3
6 reticulum cell sarcoma 10.1
7 embryoma 10.1
8 reticulosarcoma 10.1
9 neurofibromatosis 10.1
10 embryonal sarcoma 10.1
11 acute liver failure 10.1
12 skeletal muscle neoplasm 10.1 MYOG MB
13 dacryocystocele 10.1 PAX3 NF1
14 chronic inflammation of lacrimal passage 10.1 PAX3 NF1
15 medullomyoblastoma 10.1 MYOG MB
16 breast juvenile papillomatosis 10.1 PIK3CA NF1
17 malignant mesenchymoma 10.1 MYOG MB
18 conventional leiomyosarcoma 10.1 PAX7 MYOG
19 adult malignant schwannoma 10.1 NF1 MYOG
20 inflammatory leiomyosarcoma 10.1 PAX7 MYOG
21 epithelioid malignant peripheral nerve sheath tumor 10.1 NF1 MYOG
22 bilateral retinoblastoma 10.1 MYOG MB
23 childhood malignant schwannoma 10.1 NF1 MYOG
24 frontal convexity meningioma 10.1 PIK3CA FGFR4
25 gas gangrene 10.1 MYOG MB
26 conventional fibrosarcoma 10.0 PAX7 PAX3 MB
27 chondroma 10.0 NF1 HMGA2
28 malignant triton tumor 10.0 NF1 MYOG MB
29 sturge-weber syndrome 10.0 PIK3CA NF1
30 basal cell nevus syndrome 10.0 PAX7 PAX3 NF1
31 muscle tissue disease 9.9 PAX7 MYOG MB
32 nevus, epidermal 9.9 PIK3CA NF1 FGFR4
33 botryoid rhabdomyosarcoma 9.9 PAX3 MYOG MB
34 proteus syndrome 9.9 PIK3CA NF1
35 spindle cell rhabdomyosarcoma 9.9 PAX3 MYOG MB
36 eccrine papillary adenoma 9.9 PIK3CA HMGA2
37 mixed cell type cancer 9.9 PIK3CA MYOG
38 central nervous system rhabdomyosarcoma 9.9 PAX3 FOXO1
39 central nervous system mesenchymal non-meningothelial tumor 9.9 PAX7 PAX3 MYOG
40 hepatocellular clear cell carcinoma 9.9 FOXO1 FGFR4
41 clear cell basal cell carcinoma 9.9 PAX7 PAX3 MYOG
42 epithelial-myoepithelial carcinoma 9.9 PIK3CA HMGA2
43 myoepithelial carcinoma 9.9 PIK3CA HMGA2
44 mesenchymal cell neoplasm 9.8 MYOG HMGA2
45 facioscapulohumeral muscular dystrophy 1 9.8 PAX7 PAX3 MYOG
46 lipomatosis 9.8 PIK3CA HMGA2
47 malignant peripheral nerve sheath tumor 9.7 NF1 MYOG HMGA2
48 lipomatosis, multiple 9.7 NF1 HMGA2
49 dedifferentiated liposarcoma 9.6 NF1 MYOG MB HMGA2
50 leiomyosarcoma 9.6 NF1 MYOG MB HMGA2

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
4 Decreased cell migration GR00055-A-3 8.65 PIK3CA

MGI Mouse Phenotypes related to Orbit Embryonal Rhabdomyosarcoma:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 FANCD2 FGFR4 FOXO1 MB MYOG NF1
2 growth/size/body region MP:0005378 10.19 FANCD2 FGFR4 FOXO1 MB MYOG NF1
3 homeostasis/metabolism MP:0005376 10.18 FANCD2 FGFR4 FOXO1 MB MYOG NF1
4 behavior/neurological MP:0005386 10.15 FANCD2 FOXO1 MYOG NF1 PAX3 PAX7
5 mortality/aging MP:0010768 10.1 FANCD2 FGFR4 FOXO1 MB MYOG NF1
6 cardiovascular system MP:0005385 10.08 FOXO1 MB NF1 PAX3 PAX7 PIK3CA
7 embryo MP:0005380 10.05 FOXO1 MB MYOG NF1 PAX3 PAX7
8 integument MP:0010771 10 FOXO1 MYOG NF1 PAX3 PAX7 PIK3CA
9 muscle MP:0005369 9.97 FOXO1 MB MYOG NF1 PAX3 PAX7
10 neoplasm MP:0002006 9.87 FANCD2 FGFR4 FOXO1 NF1 PAX3 PAX7
11 limbs/digits/tail MP:0005371 9.83 FANCD2 FOXO1 NF1 PAX3 TFAP2B
12 respiratory system MP:0005388 9.7 FGFR4 MB MYOG NF1 PAX3 PAX7
13 no phenotypic analysis MP:0003012 9.65 FOXO1 MYOG PAX3 PAX7 PIK3CA
14 skeleton MP:0005390 9.5 FGFR4 FOXO1 MYOG NF1 PAX3 PAX7
15 vision/eye MP:0005391 9.17 FANCD2 FGFR4 NF1 PAX3 PAX7 PIK3CA

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
Skeletal Muscle, 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. 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
[An embryonal rhabdomyosarcoma of the orbit in a young adult]. 61
7184550 1982
12
[Treatment of orbital rhabdomyosarcoma (author's transl)]. 61
7099686 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

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 11.34 TFAP2B PAX7 PAX3
3 11.21 PAX7 PAX3 HMGA2 FOXO1
4 11.11 PAX7 PAX3 MYOG
5 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 9.1 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1
2 protein-DNA complex GO:0032993 8.96 MYOG HMGA2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.88 PAX7 PAX3 MYOG HMGA2 FGFR4
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 TFAP2B PAX3 MYOG HMGA2 FOXO1
3 regulation of transcription, DNA-templated GO:0006355 9.85 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1
4 negative regulation of apoptotic process GO:0043066 9.73 TFAP2B PAX7 HMGA2 FOXO1
5 positive regulation of transcription, DNA-templated GO:0045893 9.65 TFAP2B PAX3 MYOG HMGA2 FOXO1
6 phosphatidylinositol 3-kinase signaling GO:0014065 9.52 PIK3CA NF1
7 energy homeostasis GO:0097009 9.51 PIK3CA FOXO1
8 muscle organ development GO:0007517 9.5 PAX7 PAX3 MYOG
9 positive regulation of cell cycle arrest GO:0071158 9.49 MYOG HMGA2
10 sympathetic nervous system development GO:0048485 9.4 TFAP2B NF1
11 phosphate ion homeostasis GO:0055062 9.16 TFAP2B FGFR4
12 fat cell differentiation GO:0045444 9.13 TFAP2B HMGA2 FOXO1
13 anatomical structure development GO:0048856 8.8 TFAP2B PAX7 PAX3

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 9.85 TFAP2B PAX7 PAX3 MYOG HMGA2 FOXO1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 TFAP2B PAX7 PAX3 MYOG FOXO1
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 TFAP2B PAX7 PAX3 MYOG FOXO1
4 sequence-specific double-stranded DNA binding GO:1990837 9.46 TFAP2B PAX7 PAX3 MYOG
5 sequence-specific DNA binding GO:0043565 9.26 TFAP2B PAX3 MYOG FOXO1
6 DNA-binding transcription factor activity GO:0003700 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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