ERMS
MCID: EMB005
MIFTS: 49

Embryonal Rhabdomyosarcoma (ERMS) malady

Rare diseases, Cancer diseases categories
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Summaries for Embryonal Rhabdomyosarcoma

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 sarcoma. An important gene associated with Embryonal Rhabdomyosarcoma is FSHMD1A (facioscapulohumeral muscular dystrophy 1A), and among its related pathways are Basal cell carcinoma and Hedgehog Signaling Pathway. The compound cyclopamine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, prostate and cervix, and related mouse phenotypes are limbs/digits/tail and tumorigenesis.

Aliases & Classifications for Embryonal Rhabdomyosarcoma

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 58SNOMED-CT, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases


Aliases & Descriptions:

embryonal rhabdomyosarcoma 8 43 10
rhabdomyosarcoma embryonal 43 45
botryoid rhabdomyosarcoma 43 62
spindle cell rhabdomyosarcomas 43
rhabdomyosarcoma, embryonal 62
erms 43


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Disease Ontology8 DOID:3246
MeSH35 D018233
SNOMED-CT58 404051002, 14269005
NCIt40 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 91)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma31.8GLI1, PAX3, DES, PTCH1, PAX7
2sarcoma30.9DES, PAX3, GLI1, PAX7
3alveolar rhabdomyosarcoma30.5DES, PAX7, PAX3
4muscular dystrophy30.1DES, SGCA
5noonan syndrome30.1SGCA, DES
6melanoma29.9PAX3, DES, GLI1, PTCH1, PAX7
7prostatitis10.8
8orbit embryonal rhabdomyosarcoma10.6
9prostate embryonal rhabdomyosarcoma10.6
10vulvar childhood botryoid-type embryonal rhabdomyosarcoma10.4
11cervicitis10.4
12adult botryoid rhabdomyosarcoma10.3
13adult vagina botryoid rhabdomyosarcoma10.3
14vagina botryoid rhabdomyosarcoma10.3
15neurofibromatosis10.3
16choledochal cyst10.3
17costello syndrome10.3
18laryngitis10.3
19neuroblastoma10.3
20vaginitis10.3
21soft tissue sarcoma10.3
22teratoma10.3
23mycobacterium abscessus10.3
24urethritis10.2
25uterine inversion10.2
26vulvovaginitis10.2
27childhood vagina botryoid rhabdomyosarcoma10.2
28botryoid rhabdomyosarcoma10.2
29leiomyosarcoma10.2
30mediastinitis10.2
31rhabdomyosarcoma, embryonal, 210.2
32gallbladder sarcoma10.2
33pleomorphic rhabdomyosarcoma10.2
34neuronitis10.1
35acute pancreatitis10.1
36focal segmental glomerulosclerosis10.1
37childhood botryoid rhabdomyosarcoma10.1
38ectomesenchymoma10.1
39mixed type rhabdomyosarcoma10.1
40facioscapulohumeral muscular dystrophy10.1
41uterine carcinosarcoma10.1
42adenoiditis10.1
43dubowitz syndrome10.1
44embryonal extrahepatic bile duct rhabdomyosarcoma10.1
45spindle cell rhabdomyosarcoma10.1
46sudden infant death syndrome10.1
47small cell carcinoma10.1
48adenoid cystic carcinoma10.1
49medullomyoblastoma10.1
50merkel cell carcinoma10.1

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



Diseases related to embryonal rhabdomyosarcoma

Symptoms for Embryonal Rhabdomyosarcoma

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Drugs & Therapeutics for Embryonal Rhabdomyosarcoma

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Embryonal Rhabdomyosarcoma

Search NIH Clinical Center for Embryonal Rhabdomyosarcoma

Genetic Tests for Embryonal Rhabdomyosarcoma

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Anatomical Context for Embryonal Rhabdomyosarcoma

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33MalaCards
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MalaCards organs/tissues related to Embryonal Rhabdomyosarcoma:

33
Skeletal muscle, Prostate, Cervix, Breast, Bone, Uterus, Lung, Liver, 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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37MGI
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MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

37 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9GLI1, PAX3, PTCH1
2MP:00020068.6PTCH1, PAX7, PAX3, GLI1
3MP:00030128.6PTCH1, PAX7, PAX3, GLI1
4MP:00053888.6GLI1, PAX3, PAX7, PTCH1
5MP:00053818.5PTCH1, PAX7, PAX3, GLI1
6MP:00053798.5GLI1, PAX3, PAX7, PTCH1
7MP:00053808.4PTCH1, PAX7, PAX3, GLI1
8MP:00028738.4PTCH1, PAX7, PAX3, GLI1
9MP:00053858.0DES, SGCA, PTCH1, PAX3
10MP:00053697.9PAX3, PAX7, PTCH1, SGCA, DES
11MP:00053867.7DES, PTCH1, PAX7, PAX3, GLI1
12MP:00107687.5GLI1, PAX3, PAX7, PTCH1, DES

Publications for Embryonal Rhabdomyosarcoma

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52PubMed
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Articles related to Embryonal Rhabdomyosarcoma:

(show top 50)    (show all 404)
idTitleAuthorsYear
1
Embryonal rhabdomyosarcoma arising from a mediastinal teratoma: an unusual case report. (23487585)
2013
2
Vulvar embryonal rhabdomyosarcoma: a case report. (23602842)
2013
3
Cross-species array comparative genomic hybridization identifies novel oncogenic events in zebrafish and human embryonal rhabdomyosarcoma. (24009521)
2013
4
Embryonal rhabdomyosarcoma of the uterus in a 35-year-old woman: case report and review of the literature. (24020141)
2013
5
Embryonal rhabdomyosarcoma of the auricle in a child. (23279030)
2012
6
Embryonal rhabdomyosarcoma of the female genital tract: 5 years' experience. (23350353)
2012
7
Embryonic rhabdomyosarcoma presenting as Gradenigo's syndrome. (22665865)
2012
8
High-resolution array CGH identifies common mechanisms that drive embryonal rhabdomyosarcoma pathogenesis. (21412928)
2011
9
Results of the Intergroup Rhabdomyosarcoma Study Group D9602 protocol, using vincristine and dactinomycin with or without cyclophosphamide and radiation therapy, for newly diagnosed patients with low-risk embryonal rhabdomyosarcoma: a report from the Soft Tissue Sarcoma Committee of the Children's Oncology Group. (21357783)
2011
10
Sarcoma botryoides (embryonal rhabdomyosarcoma) of the uterine cervix in sisters. (21278891)
2010
11
Late relapse of botryoid embryonal rhabdomyosarcoma of the vagina in prepubertal age. (19415026)
2009
12
RAS signaling dysregulation in human embryonal Rhabdomyosarcoma. (19681119)
2009
13
Focal segmental glomerulosclerosis and nephrotic syndrome in a child with embryonal rhabdomyosarcoma. (18175060)
2008
14
Embryonal rhabdomyosarcoma of the uterus in a postmenopausal woman. Case report and review of the literature. (16684558)
2006
15
Validation of met as a therapeutic target in alveolar and embryonal rhabdomyosarcoma. (16651427)
2006
16
Plakoglobin is differentially expressed in alveolar and embryonal rhabdomyosarcoma and is regulated by DNA methylation and histone acetylation. (16537559)
2006
17
Embryonal rhabdomyosarcoma with uterine inversion: case report. (16771108)
2006
18
Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma. (15660283)
2005
19
Embryonal rhabdomyosarcoma of the common bile duct mimicking choledochal cyst. (15995817)
2005
20
Primary embryonal rhabdomyosarcoma of the breast in an adult female. (15871711)
2005
21
A novel t(2;20)(q35;p12) in embryonal rhabdomyosarcoma. (15120913)
2004
22
Uterine carcinosarcoma with complete sarcomatous overgrowth mimicking pure embryonal rhabdomyosarcoma. (12496704)
2003
23
Embryonal rhabdomyosarcoma of the lung in a child: case report and literature review. (17259778)
2002
24
Embryonal rhabdomyosarcoma passed per urethra. (11956472)
2002
25
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma. (10664222)
2000
26
Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis. (9917751)
1999
27
Characterization of a new human embryonal rhabdomyosarcoma cell line, RMS-GR. (9685856)
1998
28
Diagnosis please. Case 2: Embryonal rhabdomyosarcoma of the biliary tree. (9722837)
1998
29
Isolation of genes differentially expressed in human primary myoblasts and embryonal rhabdomyosarcoma. (8635876)
1996
30
Primary embryonal rhabdomyosarcoma of long bone. Case report and review of the literature. (8554114)
1996
31
Uterine mixed embryonal rhabdomyosarcoma and fetal rhabdomyoma. (8428702)
1993
32
Abdominal embryonal rhabdomyosarcoma. A case report. (1515977)
1992
33
Characterization of an embryonal rhabdomyosarcoma cell line showing amplification and over-expression of the N-myc oncogene. (2323848)
1990
34
Primary embryonal rhabdomyosarcoma of the ovary in a 4-year-old girl. (2807189)
1989
35
Embryonal rhabdomyosarcoma. (3135349)
1988
36
Embryonal rhabdomyosarcoma: presentation as a parotid gland mass. (2836775)
1988
37
Vaginal botryoid embryonal rhabdomyosarcoma (sarcoma botryoides), A report of one case and review of the literature. (3048608)
1988
38
Congenital embryonal rhabdomyosarcoma of the hand and Apert's syndrome. (3611664)
1987
39
Embryonal rhabdomyosarcoma of the hand. A case of mediastinal relapse 103 months after treatment. (6705329)
1984
40
Sarcoma botryoides (embryonal rhabdomyosarcoma). (6683296)
1983
41
Embryonal rhabdomyosarcoma of the urogenital tract in childhood. (6852086)
1983
42
Embryonal rhabdomyosarcoma (botryoid type) of the cervix: a case report and review. (7060985)
1982
43
Ossification in a soft tissue embryonal rhabdomyosarcoma. (6795580)
1981
44
Multidisciplinary treatment of advanced stages of embryonal rhabdomyosarcoma in children. (7029285)
1981
45
Five-year survival following cystoprostatectomy for embryonal rhabdomyosarcoma of the prostate. (7426999)
1980
46
Local control of embryonal rhabdomyosarcoma in children by radiation therapy when combined with concomitant chemotherapy. (823136)
1976
47
Combined radical surgery, radiation therapy and chemotherapy in infants with vulvovaginal embryonal rhabdomyosarcoma. (4742656)
1973
48
Proceedings: Combination therapy of urogenital embryonal rhabdomyosarcoma in children. (4757910)
1973
49
Embryonal rhabdomyosarcoma of the limbs and limb-girdles. A clinicopathologic study of 61 cases. (5786321)
1969
50
Embryonal rhabdomyosarcoma of the head and neck in children and adolescents. (14772714)
1950

Variations for Embryonal Rhabdomyosarcoma

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Expression for genes affiliated with Embryonal Rhabdomyosarcoma

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2BioGPS, 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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 61Tocris Bioscience, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4GLI1, PTCH1
2
Show member pathways
9.4GLI1, PTCH1
39.4GLI1, PTCH1
49.4GLI1, PTCH1
59.4GLI1, PTCH1
69.4PAX7, PAX3
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.2SGCA, DES

Compounds for genes affiliated with Embryonal Rhabdomyosarcoma

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45Novoseek, 61Tocris Bioscience
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Compounds related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine45 6110.4GLI1, PTCH1

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
1sarcolemmaGO:0423839.2SGCA, DES
2primary ciliumGO:0723729.1GLI1, PTCH1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of smoothened signaling pathwayGO:0085899.6GLI1, PTCH1
2spinal cord association neuron differentiationGO:0215279.6PAX3, PAX7
3muscle organ developmentGO:0075179.6PAX3, SGCA
4dorsal/ventral pattern formationGO:0099539.6GLI1, PTCH1
5neuron fate commitmentGO:0486639.6PAX7, PAX3
6neural tube closureGO:0018439.6PTCH1, PAX3
7smoothened signaling pathwayGO:0072249.5GLI1, PTCH1
8organ morphogenesisGO:0098879.2PTCH1, PAX3
9muscle contractionGO:0069369.1SGCA, DES
10positive regulation of transcription from RNA polymerase II promoterGO:0459448.9GLI1, PAX3, PAX7

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:0037059.5GLI1, PAX3

Products for genes affiliated with Embryonal Rhabdomyosarcoma

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Sources for Embryonal Rhabdomyosarcoma

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet