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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Wikipedia:65 Embryonal rhabdomyosarcoma (ERMS) is a rare histological form of cancer of connective tissue wherein the... more...

MalaCards based summary: 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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Embryonal Rhabdomyosarcoma, Aliases & Descriptions:

Name: Embryonal Rhabdomyosarcoma 8 42 10
Rhabdomyosarcoma Embryonal 42 44
Botryoid Rhabdomyosarcoma 42 62
 
Spindle Cell Rhabdomyosarcomas 42
Rhabdomyosarcoma, Embryonal 62
Erms 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:3246
MeSH34 D018233
SNOMED-CT57 14269005, 404051002
NCIt39 C8971

Related Diseases for Embryonal Rhabdomyosarcoma

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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 89)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma31.1DES, PTCH1, PAX7, PAX3, GLI1
2sarcoma30.4DES, PAX7, PAX3, GLI1
3alveolar rhabdomyosarcoma30.3DES, PAX7, PAX3
4muscular dystrophy30.0SGCA, DES
5noonan syndrome30.0SGCA, DES
6melanoma29.1DES, PTCH1, PAX7, PAX3, GLI1
7prostatitis10.8
8orbit embryonal rhabdomyosarcoma10.7
9prostate embryonal rhabdomyosarcoma10.6
10cervicitis10.4
11vulvar childhood botryoid-type embryonal rhabdomyosarcoma10.4
12costello syndrome10.4
13adult vagina botryoid rhabdomyosarcoma10.4
14adult botryoid rhabdomyosarcoma10.4
15vagina botryoid rhabdomyosarcoma10.4
16choledochal cyst10.3
17neurofibromatosis10.3
18botryoid rhabdomyosarcoma10.3
19laryngitis10.3
20neuroblastoma10.3
21vaginitis10.3
22soft tissue sarcoma10.3
23teratoma10.3
24spina bifida10.3PAX3
25holoprosencephaly10.3PTCH1
26mycobacterium abscessus10.3
27sinusitis10.3
28vulvovaginitis10.3
29uterine inversion10.3
30childhood vagina botryoid rhabdomyosarcoma10.3
31ectomesenchymoma10.3
32leiomyosarcoma10.3
33mediastinitis10.3
34rhabdomyosarcoma, embryonal, 210.3
35gallbladder sarcoma10.2
36pleomorphic rhabdomyosarcoma10.2
37neuronitis10.2
38nevoid basal cell carcinoma syndrome10.1GLI1, PTCH1
39ameloblastoma10.1PTCH1, GLI1
40facioscapulohumeral muscular dystrophy10.1
41focal segmental glomerulosclerosis10.1
42wilms tumor10.1
43acute pancreatitis10.1
44dubowitz syndrome10.1
45neuroectodermal tumor10.1
46urethritis10.1
47childhood botryoid rhabdomyosarcoma10.1
48uterine carcinosarcoma10.1
49tuberous sclerosis10.1
50adenoiditis10.1

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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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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MalaCards organs/tissues related to Embryonal Rhabdomyosarcoma:

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

Animal Models for Embryonal Rhabdomyosarcoma or affiliated genes

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MGI Mouse Phenotypes related to Embryonal Rhabdomyosarcoma:

36 (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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Articles related to Embryonal Rhabdomyosarcoma:

(show top 50)    (show all 421)
idTitleAuthorsYear
1
Rare embryonal rhabdomyosarcoma of external acoustic canal: a case report and literature review. (25128187)
2014
2
Embryonal rhabdomyosarcoma of upper lid in 15-year-old patient. (24716058)
2014
3
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. (24793135)
2014
4
Ectomesenchymoma with embryonal rhabdomyosarcoma and ganglioneuroma, arising in association with benign triton tumor of the tongue. (24650353)
2014
5
Glycogen synthase kinase 3 inhibitors induce the canonical WNT/I^-catenin pathway to suppress growth and self-renewal in embryonal rhabdomyosarcoma. (24706870)
2014
6
Embryonal rhabdomyosarcoma arising from a mediastinal teratoma: an unusual case report. (23487585)
2013
7
Vulvar embryonal rhabdomyosarcoma: a case report. (23602842)
2013
8
Cross-species array comparative genomic hybridization identifies novel oncogenic events in zebrafish and human embryonal rhabdomyosarcoma. (24009521)
2013
9
Embryonal rhabdomyosarcoma of the auricle in a child. (23279030)
2012
10
Embryonal rhabdomyosarcoma of the female genital tract: 5 years' experience. (23350353)
2012
11
Embryonic rhabdomyosarcoma presenting as Gradenigo's syndrome. (22665865)
2012
12
High-resolution array CGH identifies common mechanisms that drive embryonal rhabdomyosarcoma pathogenesis. (21412928)
2011
13
Sarcoma botryoides (embryonal rhabdomyosarcoma) of the uterine cervix in sisters. (21278891)
2010
14
Late relapse of botryoid embryonal rhabdomyosarcoma of the vagina in prepubertal age. (19415026)
2009
15
RAS signaling dysregulation in human embryonal Rhabdomyosarcoma. (19681119)
2009
16
Focal segmental glomerulosclerosis and nephrotic syndrome in a child with embryonal rhabdomyosarcoma. (18175060)
2008
17
Embryonal rhabdomyosarcoma of the uterus in a postmenopausal woman. Case report and review of the literature. (16684558)
2006
18
Validation of met as a therapeutic target in alveolar and embryonal rhabdomyosarcoma. (16651427)
2006
19
Plakoglobin is differentially expressed in alveolar and embryonal rhabdomyosarcoma and is regulated by DNA methylation and histone acetylation. (16537559)
2006
20
Embryonal rhabdomyosarcoma with uterine inversion: case report. (16771108)
2006
21
Adult sclerosing rhabdomyosarcoma: cytogenetic link with embryonal rhabdomyosarcoma. (15660283)
2005
22
Embryonal rhabdomyosarcoma of the common bile duct mimicking choledochal cyst. (15995817)
2005
23
Primary embryonal rhabdomyosarcoma of the breast in an adult female. (15871711)
2005
24
A novel t(2;20)(q35;p12) in embryonal rhabdomyosarcoma. (15120913)
2004
25
Embryonal rhabdomyosarcoma of the lung in a child: case report and literature review. (17259778)
2002
26
Embryonal rhabdomyosarcoma passed per urethra. (11956472)
2002
27
Embryonal rhabdomyosarcoma associated with tuberous sclerosis. (11920808)
2002
28
Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma. (10664222)
2000
29
Hemihypertrophy and a poorly differentiated embryonal rhabdomyosarcoma of the pelvis. (9917751)
1999
30
Characterization of a new human embryonal rhabdomyosarcoma cell line, RMS-GR. (9685856)
1998
31
Diagnosis please. Case 2: Embryonal rhabdomyosarcoma of the biliary tree. (9722837)
1998
32
Isolation of genes differentially expressed in human primary myoblasts and embryonal rhabdomyosarcoma. (8635876)
1996
33
Primary embryonal rhabdomyosarcoma of long bone. Case report and review of the literature. (8554114)
1996
34
Uterine mixed embryonal rhabdomyosarcoma and fetal rhabdomyoma. (8428702)
1993
35
Abdominal embryonal rhabdomyosarcoma. A case report. (1515977)
1992
36
Characterization of an embryonal rhabdomyosarcoma cell line showing amplification and over-expression of the N-myc oncogene. (2323848)
1990
37
Primary embryonal rhabdomyosarcoma of the ovary in a 4-year-old girl. (2807189)
1989
38
Embryonal rhabdomyosarcoma. (3135349)
1988
39
Embryonal rhabdomyosarcoma: presentation as a parotid gland mass. (2836775)
1988
40
Congenital embryonal rhabdomyosarcoma of the hand and Apert's syndrome. (3611664)
1987
41
Embryonal rhabdomyosarcoma of the hand. A case of mediastinal relapse 103 months after treatment. (6705329)
1984
42
Sarcoma botryoides (embryonal rhabdomyosarcoma). (6683296)
1983
43
Embryonal rhabdomyosarcoma of the urogenital tract in childhood. (6852086)
1983
44
Embryonal rhabdomyosarcoma (botryoid type) of the cervix: a case report and review. (7060985)
1982
45
Ossification in a soft tissue embryonal rhabdomyosarcoma. (6795580)
1981
46
Multidisciplinary treatment of advanced stages of embryonal rhabdomyosarcoma in children. (7029285)
1981
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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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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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 cardiomyopathy37
9.2SGCA, DES

Compounds for genes affiliated with Embryonal Rhabdomyosarcoma

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Sources:
44Novoseek, 61Tocris Bioscience
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Compounds related to Embryonal Rhabdomyosarcoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclopamine44 6110.4GLI1, PTCH1

GO Terms for genes affiliated with Embryonal Rhabdomyosarcoma

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet