Orbit Embryonal Rhabdomyosarcoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Cancer diseases Fetal diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:3258

NCIt ⁵⁰ C6246

UMLS ⁷⁰ C1335127

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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

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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:

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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

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Drugs & Therapeutics for Orbit Embryonal Rhabdomyosarcoma

Search Clinical Trials , NIH Clinical Center for Orbit Embryonal Rhabdomyosarcoma

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Genetic Tests for Orbit Embryonal Rhabdomyosarcoma

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Anatomical Context for Orbit Embryonal Rhabdomyosarcoma

MalaCards organs/tissues related to Orbit Embryonal Rhabdomyosarcoma:

⁴⁰

Skeletal Muscle, Breast, Liver

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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	Cescon M...Cavallari A	12819877	2003
2	Microsatellite instability in three cases of embryonal rhabdomyosarcoma of the orbit. ⁶¹	Mastrangelo D...Lore' C	12116063	2002
3	Letter to the editor: neurofibromatosis type 1 (NF 1) associated with embryonal rhabdomyosarcoma of the orbit. ⁶¹	Hadjistilianou T...Galluzzi P	11984810	2002
4	Embryonal rhabdomyosarcoma of the orbit in a 38-year-old woman. ⁶¹	Mulugeta A...Bezabih K	11338467	2001
5	Findings of magnetic resonance and colour-flow Doppler imaging of orbital embryonal rhabdomyosarcoma. ⁶¹	Cooper S...Lin DT	8193970	1994
6	Embryonal rhabdomyosarcoma of the orbit in a 35-year-old man. ⁶¹	Mamalis N...Anderson RL	8058268	1994
7	[Embryonal rhabdomyosarcoma of the orbit]. ⁶¹	Cernea P...Glavici A	8186204	1994
8	[Leiomyosarcoma of the breast 16 years following successful treatment of a rhabdomyosarcoma of the orbit in childhood]. ⁶¹	Buser K...Brunner KW	1411391	1992
9	[Immunocytochemical diagnosis of embryonal rhabdomyosarcoma of the orbit]. ⁶¹	Holbach L...Meythaler FH	2681959	1989
10	Cell necrosis and endocytosis (apoptosis) in an embryonal rhabdomyosarcoma of the orbit. ⁶¹	Dempster AG...Downie T	6654047	1983
11	[An embryonal rhabdomyosarcoma of the orbit in a young adult]. ⁶¹	Hamard H...Richard J	7184550	1982
12	[Treatment of orbital rhabdomyosarcoma (author's transl)]. ⁶¹	Jurgensen OA...Pichler E	7099686	1982
13	[Embryonal rhabdomyosarcoma of the orbit -- a totally extirpated case with long-term survival (author's transl)]. ⁶¹	Yamazaki H...Kawafuchi J	6163098	1980
14	Orbital embryonal rhabdomyosarcoma and intracranial schwannoma. ⁶¹	Trese MT...Brown WJ	314794	1979
15	[Embryonal rhabdomyosarcoma of the orbit. Apropos of 24 cases]. ⁶¹	Offret G...Cardozo S	140644	1976
16	Electron microscopic and electron histochemical studies on embryonal rhabdomyosarcoma of the orbit. ⁶¹	Amemiya T...Uchida S	169642	1975
17	[A case of embryonal rhabdomyosarcoma of the orbit]. ⁶¹	Bessiere E...Vallat M	5317157	1971
18	Intracranial extension of a non-striated embryonal rhabdomyosarcoma of the orbit. ⁶¹	Sevel D	5777351	1969
19	[Embryonal rhabdomyosarcoma of the orbit. Anatomoclinical study]. ⁶¹	Balestrazzi E...Sborgia G	5736377	1968
20	[Embryonal rhabdomyosarcoma of the orbit]. ⁶¹	Scuderi G...Balestrazzi E	5606000	1967
21	Embryonal rhabdomyosarcoma of the orbit. ⁶¹	Gupta JC...Salgia KM	6079091	1967
22	[Case of embryonal rhabdomyosarcoma of the orbit]. ⁶¹	Maruyama Y...Yokoyama K	6010376	1966
23	Embryonal sarcoma and embryonal rhabdomyosarcoma of the orbit. ⁶¹	Ashton N...Morgan G	4284785	1965
24	Embryonal rhabdomyosarcoma of the orbit in children and young adults. ⁶¹	FRAYER WC...ENTERLINE HT	13669797	1959

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Genes for Orbit Embryonal Rhabdomyosarcoma

Genes related to Orbit Embryonal Rhabdomyosarcoma (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MB	Myoglobin	Protein Coding	5.57	DISEASES inferred ¹⁵
2	TFAP2B	Transcription Factor AP-2 Beta	Protein Coding	5.26	DISEASES inferred ¹⁵
3	NF1	Neurofibromin 1	Protein Coding	5.17	DISEASES inferred ¹⁵
4	PAX7	Paired Box 7	Protein Coding	4.44	DISEASES inferred ¹⁵
5	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	4.34	DISEASES inferred ¹⁵
6	FANCD2	FA Complementation Group D2	Protein Coding	4.32	DISEASES inferred ¹⁵
7	PAX3	Paired Box 3	Protein Coding	4.27	DISEASES inferred ¹⁵
8	MYOG	Myogenin	Protein Coding	4.19	DISEASES inferred ¹⁵
9	HMGA2	High Mobility Group AT-Hook 2	Protein Coding	4.05	DISEASES inferred ¹⁵
10	FOXO1	Forkhead Box O1	Protein Coding	3.61	DISEASES inferred ¹⁵
11	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	3.38	DISEASES inferred ¹⁵

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Variations for Orbit Embryonal Rhabdomyosarcoma

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Expression for Orbit Embryonal Rhabdomyosarcoma

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

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Pathways for Orbit Embryonal Rhabdomyosarcoma

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

#	Super pathways	Score	Top Affiliating Genes
1	Development VEGF signaling via VEGFR2 - generic cascades ²³ Show member pathways Development VEGF signaling and activation ²³ VEGF - VEGF R2 Signaling Pathways ⁶⁴	11.89	PIK3CA NF1 FOXO1
2	Neural Crest Differentiation ¹	11.34	TFAP2B PAX7 PAX3
3	Transcriptional misregulation in cancer ³⁶	11.21	PAX7 PAX3 HMGA2 FOXO1
4	Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.11	PAX7 PAX3 MYOG
5	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ¹	10.73	PIK3CA FOXO1

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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

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Sources for Orbit Embryonal Rhabdomyosarcoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia