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, Uterus, Liver, Lung, Testis, Tongue, Testes, Endothelial, Ovary, Thyroid, Pancreas, Kidney, Colon, Brain, Eye, Bone marrow

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
Dense pattern of embryonal rhabdomyosarcoma, a lesion easily confused with alveolar rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group. (23765537)
2013
2
Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. (22157934)
2012
3
DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. (22180160)
2012
4
Cytogenetics of primary embryonal rhabdomyosarcoma of the cheek. (22277700)
2012
5
Treatment efficiency, outcome and surgical treatment problems in patients suffering from localized embryonal bladder/prostate rhabdomyosarcoma: a report from the Cooperative Soft Tissue Sarcoma trial CWS-96. (21370402)
2011
6
Pathology quiz case 1. Diagnosis: laryngeal rhabdomyosarcoma, embryonal subtype. (21690521)
2011
7
Advanced embryonal rhabdomyosarcoma of the uterine cervix: a case report. (21614916)
2011
8
Primary embryonal spindle cell cardiac rhabdomyosarcoma: case report. (19577381)
2010
9
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma. (20461756)
2010
10
A case series of embryonal rhabdomyosarcoma of the head and neck in adults. (21268954)
2010
11
Impaired Wnt signaling in embryonal rhabdomyosarcoma cells from p53/c-fos double mutant mice. (20829439)
2010
12
Embryonal rhabdomyosarcoma of the uterine cervix. (19531457)
2009
13
Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. (19837262)
2009
14
Identification of PAX3-FKHR-regulated genes differentially expressed between alveolar and embryonal rhabdomyosarcoma: focus on MYCN as a biologically relevant target. (18335505)
2008
15
Embryonal rhabdomyosarcoma with a novel t(2;6)(p23;p21.1). (18992640)
2008
16
Plakoglobin is differentially expressed in alveolar and embryonal rhabdomyosarcoma and is regulated by DNA methylation and histone acetylation. (16537559)
2006
17
Congenital pineoblastoma and parameningeal rhabdomyosarcoma: concurrent two embryonal tumors in a young infant. (16283194)
2006
18
Cutaneous embryonal rhabdomyosarcoma presenting as a nodule on cheek; a case report and review of literature. (16987772)
2006
19
Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumors. (16790082)
2006
20
Embryonal rhabdomyosarcoma of adult nasopharynx. (16102222)
2005
21
Intraosseous embryonal rhabdomyosarcoma as a second neoplasm following retinoblastoma. (16373234)
2005
22
Laryngeal embryonal rhabdomyosarcoma: a case of cervical metastases 13 years after treatment and a 25-year review of existing literature. (15492173)
2004
23
Embryonal rhabdomyosarcoma of the common bile duct. (12619959)
2003
24
Embryonal rhabdomyosarcoma of the lung in a child: case report and literature review. (17259778)
2002
25
Novel genomic imbalances in embryonal rhabdomyosarcoma revealed by comparative genomic hybridization and fluorescence in situ hybridization: an intergroup rhabdomyosarcoma study. (10719362)
2000
26
Embryonal rhabdomyosarcoma of the uterine corpus in a 76-year-old patient. (10600314)
1999
27
Embryonal rhabdomyosarcoma with intracranial extension. (23119543)
1999
28
Prenatal sonographic features of embryonal rhabdomyosarcoma. (10204216)
1999
29
Characterization of a new human embryonal rhabdomyosarcoma cell line, RMS-GR. (9685856)
1998
30
Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma]. (10095436)
1998
31
Botryoid-type embryonal rhabdomyosarcoma of liver in a young cat. (9396144)
1997
32
Adult embryonal rhabdomyosarcoma showing marked response to radiotherapy: a case report. (9278375)
1997
33
A comparative study on morphology and immunohistochemistry of rhabdomyosarcoma and embryonal skeletal muscles. (9594310)
1997
34
Alveolar rhabdomyosarcoma: a prognostically unfavorable rhabdomyosarcoma type and its necessary distinction from embryonal rhabdomyosarcoma. (7882714)
1995
35
Embryonal rhabdomyosarcoma of the floor of the mouth. A case report. (7838467)
1994
36
Uterine mixed embryonal rhabdomyosarcoma and fetal rhabdomyoma. (8428702)
1993
37
Spindle cell variants of embryonal rhabdomyosarcoma in the paratesticular region. A report of the Intergroup Rhabdomyosarcoma Study. (8434703)
1993
38
Embryonal rhabdomyosarcoma with 100 chromosomes but no structural aberrations. (1606566)
1992
39
Translocation (8;11)(q12-13;q21) in embryonal rhabdomyosarcoma. (1551093)
1992
40
N-myc gene is amplified in alveolar rhabdomyosarcomas (RMS) but not in embryonal RMS. (2323837)
1990
41
Metastatic ability and differentiative properties of a new cell line of human embryonal rhabdomyosarcoma (CCA). (2516717)
1989
42
Vaginal botryoid embryonal rhabdomyosarcoma (sarcoma botryoides), A report of one case and review of the literature. (3048608)
1988
43
Long-term follow-up and complications of infants with vulvovaginal embryonal rhabdomyosarcoma treated with surgery, radiation therapy, and chemotherapy. (3347430)
1988
44
Embryonal rhabdomyosarcoma of the biliary tree in children: a case report. (3295734)
1987
45
Embryonal rhabdomyosarcoma of the hand. A case of mediastinal relapse 103 months after treatment. (6705329)
1984
46
Ossification in a soft tissue embryonal rhabdomyosarcoma. (6795580)
1981
47
Diagnostic value of histochemistry in embryonal rhabdomyosarcoma. (93852)
1979
48
The value of electron microscopic examination of differential diagnosis of fetal rhabdomyoma and embryonal rhabdomyosarcoma of urinary bladder. (232616)
1979
49
Cure of an embryonal rhabdomyosarcoma of the nose of an infant by interstitial 90yttrium microspheres: a case report. (659061)
1978
50
Sarcoma botryoides (embryonal rhabdomyosarcoma) of the anus. (13649117)
1959

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

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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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