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

Sources

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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:3258

NCIt ⁴⁹ C6246

UMLS ⁷¹ C1335127

Sources

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

Sources

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:

Sources

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

Sources

Drugs & Therapeutics for Orbit Embryonal Rhabdomyosarcoma

Search Clinical Trials, NIH Clinical Center for Orbit Embryonal Rhabdomyosarcoma

Sources

Genetic Tests for Orbit Embryonal Rhabdomyosarcoma

Sources

Anatomical Context for Orbit Embryonal Rhabdomyosarcoma

Organs/tissues related to Orbit Embryonal Rhabdomyosarcoma:

MalaCards : Skeletal Muscle, Bone, Breast, Liver

Sources

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	Cescon M...Cavallari A	12819877	2003
2	Microsatellite instability in three cases of embryonal rhabdomyosarcoma of the orbit. ⁶²	Mastrangelo D...Lore' C	12116063	2002
3	Letter to the editor: neurofibromatosis type 1 (NF 1) associated with embryonal rhabdomyosarcoma of the orbit. ⁶²	Hadjistilianou T...Galluzzi P	11984810	2002
4	Embryonal rhabdomyosarcoma of the orbit in a 38-year-old woman. ⁶²	Mulugeta A...Bezabih K	11338467	2001
5	Findings of magnetic resonance and colour-flow Doppler imaging of orbital embryonal rhabdomyosarcoma. ⁶²	Cooper S...Lin DT	8193970	1994
6	Embryonal rhabdomyosarcoma of the orbit in a 35-year-old man. ⁶²	Mamalis N...Anderson RL	8058268	1994
7	[Embryonal rhabdomyosarcoma of the orbit]. ⁶²	Cernea P...Glavici A	8186204	1994
8	[Leiomyosarcoma of the breast 16 years following successful treatment of a rhabdomyosarcoma of the orbit in childhood]. ⁶²	Buser K...Brunner KW	1411391	1992
9	[Immunocytochemical diagnosis of embryonal rhabdomyosarcoma of the orbit]. ⁶²	Holbach L...Meythaler FH	2681959	1989
10	Cell necrosis and endocytosis (apoptosis) in an embryonal rhabdomyosarcoma of the orbit. ⁶²	Dempster AG...Downie T	6654047	1983
11	[An embryonal rhabdomyosarcoma of the orbit in a young adult]. ⁶²	Hamard H...Richard J	7184550	1982
12	[Treatment of orbital rhabdomyosarcoma (author's transl)]. ⁶²	Jurgensen OA...Pichler E	7099686	1982
13	[Embryonal rhabdomyosarcoma of the orbit -- a totally extirpated case with long-term survival (author's transl)]. ⁶²	Yamazaki H...Kawafuchi J	6163098	1980
14	Orbital embryonal rhabdomyosarcoma and intracranial schwannoma. ⁶²	Trese MT...Brown WJ	314794	1979
15	[Embryonal rhabdomyosarcoma of the orbit. Apropos of 24 cases]. ⁶²	Offret G...Cardozo S	140644	1976
16	Electron microscopic and electron histochemical studies on embryonal rhabdomyosarcoma of the orbit. ⁶²	Amemiya T...Uchida S	169642	1975
17	[A case of embryonal rhabdomyosarcoma of the orbit]. ⁶²	Bessiere E...Vallat M	5317157	1971
18	Intracranial extension of a non-striated embryonal rhabdomyosarcoma of the orbit. ⁶²	Sevel D	5777351	1969
19	[Embryonal rhabdomyosarcoma of the orbit. Anatomoclinical study]. ⁶²	Balestrazzi E...Sborgia G	5736377	1968
20	[Embryonal rhabdomyosarcoma of the orbit]. ⁶²	Scuderi G...Balestrazzi E	5606000	1967
21	Embryonal rhabdomyosarcoma of the orbit. ⁶²	Gupta JC...Salgia KM	6079091	1967
22	[Case of embryonal rhabdomyosarcoma of the orbit]. ⁶²	Maruyama Y...Yokoyama K	6010376	1966
23	Embryonal sarcoma and embryonal rhabdomyosarcoma of the orbit. ⁶²	Ashton N...Morgan G	4284785	1965
24	Embryonal rhabdomyosarcoma of the orbit in children and young adults. ⁶²	FRAYER WC...ENTERLINE HT	13669797	1959

Sources

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	5.16	DISEASES inferred ¹⁴
2	TFAP2B	Transcription Factor AP-2 Beta	Protein Coding	4.88	DISEASES inferred ¹⁴
3	NF1	Neurofibromin 1	Protein Coding	4.76	DISEASES inferred ¹⁴
4	PAX7	Paired Box 7	Protein Coding	3.99	DISEASES inferred ¹⁴
5	FANCD2	FA Complementation Group D2	Protein Coding	3.89	DISEASES inferred ¹⁴
6	FGFR4	Fibroblast Growth Factor Receptor 4	Protein Coding	3.85	DISEASES inferred ¹⁴
7	PAX3	Paired Box 3	Protein Coding	3.84	DISEASES inferred ¹⁴
8	MYOG	Myogenin	Protein Coding	3.74	DISEASES inferred ¹⁴
9	HMGA2	High Mobility Group AT-Hook 2	Protein Coding	3.56	DISEASES inferred ¹⁴
10	FOXO1	Forkhead Box O1	Protein Coding	3.09	DISEASES inferred ¹⁴
11	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	2.86	DISEASES inferred ¹⁴

Sources

Variations for Orbit Embryonal Rhabdomyosarcoma

Sources

Expression for Orbit Embryonal Rhabdomyosarcoma

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

Sources

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 ²² Show member pathways Development VEGF signaling and activation ²² VEGF - VEGF R2 Signaling Pathways ⁶⁵	11.89	PIK3CA NF1 FOXO1
2	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.76	PIK3CA FOXO1 FGFR4
3	Ras signaling ⁷⁴	11.59	PIK3CA NF1 FGFR4
4	Neural crest differentiation ⁷⁴	11.14	TFAP2B PAX7 PAX3
5	IL6-mediated signaling events ⁶¹	11.02	PIK3CA FOXO1
6	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	10.78	PAX7 PAX3 MYOG
7	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ⁷⁴	10.73	PIK3CA FOXO1

Sources

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

Sources for Orbit Embryonal Rhabdomyosarcoma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ORB002 MIFTS: 30	Orbit Embryonal Rhabdomyosarcoma Categories: Bone diseases, Cancer diseases, Fetal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Expand all tables