ERMS
MCID: EMB005
MIFTS: 55

Embryonal Rhabdomyosarcoma (ERMS) malady

Summaries for Embryonal Rhabdomyosarcoma

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63Wikipedia, 32MalaCards
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Wikipedia:63 Embryonal rhabdomyosarcoma (ERMS) is a rare histological form of cancer of connective tissue wherein the... more...

MalaCards: Embryonal Rhabdomyosarcoma, also known as rhabdomyosarcoma embryonal, is related to rhabdomyosarcoma and alveolar rhabdomyosarcoma. An important gene associated with Embryonal Rhabdomyosarcoma is KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog), and among its related pathways are Neural Crest Differentiation and Endometrial cancer. The compounds estrogen and paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, prostate and cervix, and related mouse phenotypes are muscle and respiratory system.

Aliases & Classifications for Embryonal Rhabdomyosarcoma

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42NIH Rare Diseases, 60UMLS, 8Disease Ontology, 10DISEASES, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

embryonal rhabdomyosarcoma 8 42 10
rhabdomyosarcoma embryonal 42 44
botryoid rhabdomyosarcoma 42 60
spindle cell rhabdomyosarcomas 42
rhabdomyosarcoma, embryonal 60
erms 42


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Disease Ontology8 DOID:3246
MeSH34 D018233
SNOMED-CT56 404051002, 14269005
NCIt39 C8971

Related Diseases for Embryonal Rhabdomyosarcoma

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17GeneCards, 18GeneDecks
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Diseases in the Embryonal Rhabdomyosarcoma family:

Rhabdomyosarcoma, Embryonal, 2

Diseases related to Embryonal Rhabdomyosarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma32.0DES, FOXO1, MYOD1, PAX7, PAX3, EIF4EBP1
2alveolar rhabdomyosarcoma31.0PAX3, DES, MYOG, MYOD1, PAX7, FOXO1
3sarcoma31.0DES, FOXO1, MYOG, MYCN, PAX3, PAX7
4neuroblastoma30.4MYCN
5neurofibromatosis30.4HRAS
6leiomyosarcoma30.3MYOD1, MYOG, KIT, DES
7embryonal cancer30.3MYOD1, MYOG, MYCN, KIT
8nephroblastoma30.0CYR61
9pancreatitis30.0HRAS
10muscular dystrophy30.0SGCA, MYOD1, DES
11retinoblastoma30.0MYOD1, MYOG, MYCN, HRAS, EIF4EBP1
12adenocarcinoma30.0MYCN, SLC16A1, CYR61, HRAS, EIF4EBP1, GLI1
13melanoma30.0HRAS, CYR61, MYCN, MYOD1, EIF4EBP1, PAX3
14noonan syndrome30.0SGCA, DES, CYR61
15breast cancer29.9EIF4EBP1, FOXO1, SNAI1, MYCN, KIT, HRAS
16prostate embryonal rhabdomyosarcoma10.8
17orbit embryonal rhabdomyosarcoma10.8
18botryoid rhabdomyosarcoma10.7
19orbit rhabdomyosarcoma10.7
20prostate rhabdomyosarcoma10.7
21prostatitis10.7
22breast rhabdomyosarcoma10.4
23spindle cell rhabdomyosarcoma10.3
24vulvar childhood botryoid-type embryonal rhabdomyosarcoma10.3
25bile duct rhabdomyosarcoma10.3
26cervicitis10.3
27vagina botryoid rhabdomyosarcoma10.3
28gallbladder rhabdomyosarcoma10.3
29adult vagina botryoid rhabdomyosarcoma10.3
30costello syndrome10.3
31testis rhabdomyosarcoma10.3
32liver rhabdomyosarcoma10.3
33choledochal cyst10.3
34laryngitis10.3
35pleomorphic rhabdomyosarcoma10.3
36vaginitis10.3
37uterine inversion10.2
38urethritis10.2
39vulvovaginitis10.2
40adult botryoid rhabdomyosarcoma10.2
41childhood vagina botryoid rhabdomyosarcoma10.2
42mediastinitis10.2
43rhabdomyosarcoma, embryonal, 210.2
44renal wilms' tumor10.1
45adult pleomorphic rhabdomyosarcoma10.1
46gallbladder sarcoma10.1
47neuronitis10.1
48adhesions of uterus10.1
49focal segmental glomerulosclerosis10.0
50acute pancreatitis10.0

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



Diseases related to embryonal rhabdomyosarcoma

Clinical Features for Embryonal Rhabdomyosarcoma

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Drugs & Therapeutics for Embryonal Rhabdomyosarcoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Embryonal Rhabdomyosarcoma

Drug clinical trials:

Search ClinicalTrials for Embryonal Rhabdomyosarcoma

Search NIH Clinical Center for Embryonal Rhabdomyosarcoma

Search CenterWatch for Embryonal Rhabdomyosarcoma

Genetic Tests for Embryonal Rhabdomyosarcoma

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Anatomical Context for Embryonal Rhabdomyosarcoma

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32MalaCards
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MalaCards organs/tissues related to Embryonal Rhabdomyosarcoma:

32
Skeletal muscle, Prostate, Cervix, Breast, Bone, Liver, Uterus, Tongue, Lung, Testis, Pancreas, Endothelial, Colon, Thyroid, Bone marrow, Eye, Kidney, Brain, Ovary, Testes

Animal Models for Embryonal Rhabdomyosarcoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

36 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.4FOXO1, MYCN, MYOD1, SGCA, PAX3, PAX7
2MP:000538810.3MYCN, MYOD1, MYOG, GLI1, PAX3, PAX7
3MP:000301210.2FOXO1, MYCN, MYOD1, GLI1, HRAS, KIT
4MP:000539010.2MYCN, MYOD1, MYOG, HRAS, PAX3, PAX7
5MP:000538210.2FOXO1, SNAI1, MYCN, HRAS, KIT, PAX3
6MP:000287310.2MYOD1, MYCN, SNAI1, FOXO1, MYOG, GLI1
7MP:000200610.2FOXO1, GLI1, HRAS, KIT, PAX3, PAX7
8MP:000538010.1FOXO1, SNAI1, MYCN, MYOG, GLI1, CYR61
9MP:000538110.1FOXO1, SNAI1, MYCN, GLI1, KIT, PAX3
10MP:000538510.1PAX3, FOXO1, SNAI1, DES, MYCN, MYOD1
11MP:000537810.0FOXO1, SNAI1, MYCN, MYOD1, MYOG, GLI1
12MP:00053849.9SNAI1, MYCN, GLI1, CYR61, EIF4EBP1, KIT
13MP:00107689.9FOXO1, SNAI1, DES, MYCN, MYOD1, MYOG
14MP:00053869.9FOXO1, DES, MYCN, MYOG, GLI1, HRAS
15MP:00053769.7FOXO1, DES, MYCN, MYOD1, MYOG, SGCA

Publications for Embryonal Rhabdomyosarcoma

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50PubMed
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Articles related to Embryonal Rhabdomyosarcoma:

(show top 50)    (show all 439)
idTitleAuthorsYear
1
Vulvar embryonal rhabdomyosarcoma: a case report. (23602842)
2013
2
Adult case of large sinonasal embryonal rhabdomyosarcoma with intracranial extension. (23599096)
2013
3
Embryonal (botryoides) rhabdomyosarcoma of the uterus harboring a primitive neuroectodermal tumor component. (22653355)
2012
4
Perianal embryonal rhabdomyosarcoma diagnosed by endoscopic ultrasound-guided fine needle aspiration. (23012012)
2012
5
Embryonal rhabdomyosarcoma with metastases confined to the lungs: report from the CWS Study Group. (21370403)
2011
6
Embryonal rhabdomyosarcoma of the uterine cervix in a 47-year-old woman. (21410833)
2011
7
Evidence for an unanticipated relationship between undifferentiated pleomorphic sarcoma and embryonal rhabdomyosarcoma. (21316601)
2011
8
Embryonal rhabdomyosarcoma of the adult soft palate. (21393897)
2011
9
Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts. (20019182)
2010
10
Trisomy 8 as a sole aberration in embryonal rhabdomyosarcoma (sarcoma botryoides) of the vagina. (19963119)
2009
11
Pediatric radical abdominal trachelectomy for anaplastic embryonal rhabdomyosarcoma of the uterine cervix: an alternative to radical hysterectomy. (19361657)
2009
12
Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma. (19389508)
2009
13
Embryonal rhabdomyosarcoma in a young Maine coon cat. (19122064)
2009
14
Embryonal rhabdomyosarcoma of the uterus associated with uterine inversion in an adolescent: a case report and published work review. (18840193)
2008
15
Embryonal rhabdomyosarcoma arising in the ureter. (18568985)
2008
16
Expression and genomic status of EGFR and ErbB-2 in alveolar and embryonal rhabdomyosarcoma. (16729016)
2006
17
Teratoma in an adolescent with malignant transformation into embryonal rhabdomyosarcoma: case report. (17023832)
2006
18
Transport mechanism for L-lactic acid in human myocytes using human prototypic embryonal rhabdomyosarcoma cell line (RD cells). (15997097)
2005
19
Pathologic quiz case: right upper quadrant abdominal mass in a young woman. Primary hepatorenal embryonal rhabdomyosarcoma with differentiation. (15679450)
2005
20
Embryonal rhabdomyosarcoma of lower lip. (15347880)
2004
21
Pax3:Fkhr interferes with embryonic Pax3 and Pax7 function: implications for alveolar rhabdomyosarcoma cell of origin. (15520281)
2004
22
Embryonal rhabdomyosarcoma of the tongue in old age. (14969826)
2004
23
Embryonal rhabdomyosarcoma passed per urethra. (11956472)
2002
24
Expression of cyclin-dependent kinase inhibitor p27/Kip1 and AP-1 coactivator p38/Jab1 correlates with differentiation of embryonal rhabdomyosarcoma. (12359053)
2002
25
Growth hormone and segmental growth in survivors of head and neck embryonal rhabdomyosarcoma. (11316695)
2001
26
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma. (10664222)
2000
27
Parameningeal embryonal rhabdomyosarcoma in an adult. (11225232)
1999
28
Subsequent urethral relapses with extension into the corpora cavernosa of embryonal rhabdomyosarcoma of the prostate. (10332469)
1999
29
Embryonal "Botryoid" rhabdomyosarcoma of the larynx: a clinicopathologic and immunohistochemical study of two cases. (10594285)
1999
30
Pleural effusion cytology of embryonal rhabdomyosarcoma. (9099552)
1997
31
Spindle cell variant of embryonal rhabdomyosarcoma. (9141404)
1997
32
Adult embryonal rhabdomyosarcoma metastatic to the breast and diagnosed by fine needle aspiration. A case report. (9167712)
1997
33
Testicular embryonal rhabdomyosarcoma diagnosed by fine needle aspiration cytology. A report of two cases. (8042425)
1994
34
Embryonal rhabdomyosarcoma arising in the buccal mucosa: a case report with immunohistochemical and electronmicroscopic findings. (8157426)
1994
35
Intravaginal iridium-192 in the management of embryonal rhabdomyosarcoma. (1931767)
1991
36
Embryonal rhabdomyosarcoma. (3135349)
1988
37
Cytology of embryonal rhabdomyosarcoma: a cytologic, light microscopic, electron microscopic, and immunohistochemical study of seven cases. (3076110)
1988
38
Hepatic undifferentiated (embryonal) sarcoma and rhabdomyosarcoma in children. Results of therapy. (3791152)
1987
39
RMZ: a new cell line from a human alveolar rhabdomyosarcoma. In vitro expression of embryonic myosin. (3801282)
1986
40
Embryonal rhabdomyosarcoma of the ampulla of vater. (626941)
1978
41
Local control of embryonal rhabdomyosarcoma in children by radiation therapy when combined with concomitant chemotherapy. (823136)
1976
42
Embryonal rhabdomyosarcoma (sarcoma botryoides) of the common bile duct: a case report. (992649)
1976
43
Multidisciplinary treatment of embryonal rhabdomyosarcoma in children. (1111936)
1975
44
Combination chemotherapy for embryonal rhabdomyosarcoma. (4830502)
1974
45
Embryonal rhabdomyosarcoma of the prostate. An ultrastructural study. (4687886)
1973
46
Role of radiotherapy in embryonal rhabdomyosarcoma of head & neck region (a case report). (5141724)
1971
47
Embryonal rhabdomyosarcoma (sarcoma botryoides) of the biliary tree. Report of five cases and a review of the literature. (5796778)
1969
48
X-ray treatment of embryonal rhabdomyosarcoma of orbit. Case report of a 13-year survival without recurrence. (5729593)
1968
49
Embryonal rhabdomyosarcoma of the middle ear in children. (5905465)
1966
50
Two case reports of embryonal rhabdomyosarcoma with primary presentation in the ear. (13468873)
1957

Genetic Variations for Embryonal Rhabdomyosarcoma

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Expression for genes affiliated with Embryonal Rhabdomyosarcoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Embryonal Rhabdomyosarcoma

Search GEO for disease gene expression data for Embryonal Rhabdomyosarcoma.

Pathways for genes affiliated with Embryonal Rhabdomyosarcoma

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37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 49PharmGKB
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Pathways related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3PAX7, PAX3, SNAI1
2
Hide members
10.3KIT, HRAS, EIF4EBP1
310.3FOXO1, EIF4EBP1, HRAS
4
Hide members
10.3FOXO1, EIF4EBP1, HRAS
510.3KIT, HRAS, GLI1, FOXO1
610.2PAX7, PAX3, MYCN, FOXO1

Compounds for genes affiliated with Embryonal Rhabdomyosarcoma

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7MYOG, MYOD1
2paclitaxel44 49 1112.5HRAS, EIF4EBP1
3bromodeoxyuridine4410.5DES, MYCN, MYOD1, MYOG, HRAS
4pd 98,0594410.5MYOG, GLI1, EIF4EBP1, HRAS, KIT
5rapamycin4410.5FOXO1, MYOG, EIF4EBP1, HRAS, KIT
6paraffin4410.5DES, MYCN, MYOD1, MYOG, HRAS, KIT
712-o-tetradecanoylphorbol 13-acetate4410.5DES, MYOD1, MYOG, EIF4EBP1, HRAS
8gp 1304410.5KIT, HRAS, MYOD1
9everolimus49 44 1112.5EIF4EBP1, KIT
10lactate4410.5DES, MYCN, KIT, SLC16A4, SLC16A1
11actinomycin d4410.4DES, MYCN, MYOD1, CYR61, EIF4EBP1, KIT
12steroid4410.4DES, MYOD1, MYOG, CYR61, HRAS
13phenylacetate4410.4MYCN, HRAS
14fatty acid4410.4FOXO1, DES, MYOD1, MYOG, SLC16A1
15glucose4410.4SLC16A1, FOXO1, MYOG, GLI1, EIF4EBP1, HRAS
16nitric oxide44 11 2412.4DES, MYCN, MYOG, EIF4EBP1, HRAS, KIT
17leucine4410.4MYCN, MYOD1, EIF4EBP1, HRAS, KIT
18progesterone44 59 28 11 2414.4FOXO1, DES, CYR61, HRAS, KIT
19toluidine4410.4KIT, DES
20oligonucleotide4410.4MYCN, MYOD1, MYOG, CYR61, HRAS, KIT
21phosphatidylinositol4410.4FOXO1, MYOD1, GLI1, CYR61, EIF4EBP1, HRAS
22threonine4410.3FOXO1, DES, MYOD1, EIF4EBP1, HRAS, KIT
23retinoic acid44 2411.3DES, MYCN, MYOD1, MYOG, EIF4EBP1, HRAS
24cysteine4410.3DES, MYOD1, MYOG, CYR61, HRAS, KIT
25testosterone44 59 11 2413.3FOXO1, DES, MYOD1, MYOG, KIT
26vegf4410.3FOXO1, DES, MYCN, MYOD1, MYOG, CYR61
27serine4410.2FOXO1, DES, MYCN, MYOD1, MYOG, EIF4EBP1
28glycogen44 2411.2KIT, EIF4EBP1, DES, FOXO1
29tyrosine4410.1FOXO1, DES, MYCN, MYOD1, MYOG, CYR61
30ly2940024410.1FOXO1, MYOG, EIF4EBP1, HRAS
31doxorubicin44 49 1112.0DES, MYCN, HRAS, KIT

GO Terms for genes affiliated with Embryonal Rhabdomyosarcoma

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16Gene Ontology
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Cellular components related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056349.8PAX7, SNAI1, MYCN, MYOD1, MYOG, GLI1

Biological processes related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1monocarboxylic acid transportGO:01571810.5SLC16A4, SLC16A1
2muscle cell fate commitmentGO:04269310.5MYOG, MYOD1
3osteoblast differentiationGO:00164910.5CYR61, GLI1, SNAI1
4positive regulation of cell proliferationGO:00828410.4GLI1, HRAS, KIT, PAX3, TSPAN31
5muscle organ developmentGO:00751710.4PAX3, SGCA, MYOD1
6skeletal muscle fiber developmentGO:04874110.4MYOG, MYOD1
7spinal cord association neuron differentiationGO:02152710.4PAX3, PAX7
8neuron fate commitmentGO:04866310.4PAX7, PAX3
9cellular response to estradiol stimulusGO:07139210.2MYOG, MYOD1
10positive regulation of transcription from RNA polymerase II promoterGO:04594410.2PAX7, FOXO1, MYOD1, MYOG, GLI1, CYR61
11positive regulation of cell migrationGO:03033510.0HRAS, CYR61, SNAI1

Molecular functions related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.3PAX3, GLI1, MYOD1
2monocarboxylic acid transmembrane transporter activityGO:00802810.0SLC16A1, SLC16A4

Products for genes affiliated with Embryonal Rhabdomyosarcoma

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Sources for Embryonal Rhabdomyosarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
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