MCID: EMB005
MIFTS: 44

Embryonal Rhabdomyosarcoma malady

Genetic diseases, Rare diseases, Cancer diseases categories

Summaries for Embryonal Rhabdomyosarcoma

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Disease Ontology:9 A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs.

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.

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

Aliases & Classifications for Embryonal Rhabdomyosarcoma

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Sources:
41NIH Rare Diseases, 60UMLS, 9Disease Ontology, 11DISEASES, 47Orphanet, 43Novoseek, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Embryonal Rhabdomyosarcoma, Aliases & Descriptions:

Name: Embryonal Rhabdomyosarcoma 9 41 11 47
Rhabdomyosarcoma Embryonal 41 43
Botryoid Rhabdomyosarcoma 41 60
 
Spindle Cell Rhabdomyosarcomas 41
Rhabdomyosarcoma, Embryonal 60
Erms 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Orphanet: 47 
Rare tumors


External Ids:

Disease Ontology9 DOID:3246
MeSH33 D018233
NCIt38 C8971
Orphanet47 99757
SNOMED-CT55 404051002, 14269005
MESH via Orphanet34 D018233
ICD10 via Orphanet26 C49
UMLS via Orphanet61 C0206656

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 Suite gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma31.1DES, PTCH1, PAX7, PAX3, GLI1
2sarcoma30.4DES, PAX7, PAX3, GLI1
3muscular dystrophy30.0SGCA, DES
4melanoma29.1DES, PTCH1, PAX7, PAX3, GLI1
5prostatitis10.8
6orbit embryonal rhabdomyosarcoma10.7
7prostate embryonal rhabdomyosarcoma10.6
8cervicitis10.5
9adult botryoid rhabdomyosarcoma10.4
10adult vagina botryoid rhabdomyosarcoma10.4
11vagina botryoid rhabdomyosarcoma10.4
12costello syndrome10.4
13vulvar childhood botryoid-type embryonal rhabdomyosarcoma10.4
14laryngitis10.4
15mycobacterium abscessus10.4
16rhabdomyosarcoma, embryonal, 210.3
17neuroblastoma10.3
18neurofibromatosis10.3
19spindle cell rhabdomyosarcoma10.3
20vaginitis10.3
21soft tissue sarcoma10.3
22teratoma10.3
23neural tube defects10.3PAX3
24holoprosencephaly10.3PTCH1
25neurofibromatosis, type 110.3
26sinusitis10.3
27urethritis10.3
28uterine inversion10.3
29vulvovaginitis10.3
30ectomesenchymoma10.3
31choledochal cyst10.3
32botryoid rhabdomyosarcoma10.3
33leiomyosarcoma10.3
34mediastinitis10.3
35gallbladder sarcoma10.2
36pleomorphic rhabdomyosarcoma10.2
37neuronitis10.2
38basal cell nevus syndrome10.1GLI1, PTCH1
39mismatch repair cancer syndrome10.1PAX3, PAX7
40tumor predisposition syndrome10.1
41sudden infant death syndrome10.1
42retinoblastoma10.1
43insulin-like growth factor i10.1
44wilms tumor10.1
45rhabdomyosarcoma, somatic10.1
46focal segmental glomerulosclerosis10.1
47neuroectodermal tumor10.1
48cystic nephroma10.1
49acute pancreatitis10.1
50inflammatory myofibroblastic tumor10.1

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:

31
Skeletal muscle, Prostate, Cervix, Bone, Breast, 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:

35 (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 435)
idTitleAuthorsYear
1
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. (25836323)
2015
2
Rare embryonal rhabdomyosarcoma of external acoustic canal: a case report and literature review. (25128187)
2014
3
Embryonal rhabdomyosarcoma of upper lid in 15-year-old patient. (24716058)
2014
4
A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K-AKT pathway mutations. (24793135)
2014
5
Ectomesenchymoma with embryonal rhabdomyosarcoma and ganglioneuroma, arising in association with benign triton tumor of the tongue. (24650353)
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
Sarcoma botryoides (embryonal rhabdomyosarcoma). (6683296)
1983
42
Embryonal rhabdomyosarcoma of the urogenital tract in childhood. (6852086)
1983
43
Embryonal rhabdomyosarcoma (botryoid type) of the cervix: a case report and review. (7060985)
1982
44
Ossification in a soft tissue embryonal rhabdomyosarcoma. (6795580)
1981
45
Multidisciplinary treatment of advanced stages of embryonal rhabdomyosarcoma in children. (7029285)
1981
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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Cosmic variations for Embryonal Rhabdomyosarcoma:

7 (show all 41)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
1586NRASsoft tissue,striated muscle,rhabdomyosarcoma,NS3
2585NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
317611NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
4562NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
5563NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
6564NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
7580NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
8574NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
9569NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
10584NRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
1145255TP53soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
1211081TP53soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
13133677TP53soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
1410813TP53soft tissue,striated muscle,rhabdomyosarcoma,NS3
1510670TP53soft tissue,striated muscle,rhabdomyosarcoma,NS3
1645005TP53soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
1710660TP53soft tissue,striated muscle,rhabdomyosarcoma,NS3
1810668TP53soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
19528KRASsoft tissue,striated muscle,rhabdomyosarcoma,NS3
20532KRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
21553KRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
22522KRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
23516KRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
24521KRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
25480HRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
26483HRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
27486HRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
28496HRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
29481HRASsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
30775PIK3CAsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
31760PIK3CAsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
321235326PIK3CAsoft tissue,striated muscle,rhabdomyosarcoma,NS3
33763PIK3CAsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
3413016PTPN11soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
3513014PTPN11soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
3613013PTPN11soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
371651691ALKsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
38143842ALKsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3
395664CTNNB1soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
405692CTNNB1soft tissue,striated muscle,rhabdomyosarcoma,embryonal3
41476BRAFsoft tissue,striated muscle,rhabdomyosarcoma,embryonal3

Expression for genes affiliated with Embryonal Rhabdomyosarcoma

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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 Suite gene sharing:

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 cardiomyopathy36
9.2SGCA, DES

Compounds for genes affiliated with Embryonal Rhabdomyosarcoma

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Sources:
43Novoseek, 59Tocris Bioscience
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Compounds related to Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cyclopamine43 5910.4GLI1, PTCH1

GO Terms for genes affiliated with Embryonal Rhabdomyosarcoma

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Cellular components related to Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:00423839.2SGCA, DES
2primary ciliumGO:00723729.1GLI1, PTCH1

Biological processes related to Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of smoothened signaling pathwayGO:00085899.6GLI1, PTCH1
2spinal cord association neuron differentiationGO:00215279.6PAX3, PAX7
3muscle organ developmentGO:00075179.6PAX3, SGCA
4dorsal/ventral pattern formationGO:00099539.6GLI1, PTCH1
5neuron fate commitmentGO:00486639.6PAX7, PAX3
6neural tube closureGO:00018439.6PTCH1, PAX3
7smoothened signaling pathwayGO:00072249.5GLI1, PTCH1
8organ morphogenesisGO:00098879.2PTCH1, PAX3
9muscle contractionGO:00069369.1SGCA, DES
10positive regulation of transcription from RNA polymerase II promoterGO:00459448.9GLI1, PAX3, PAX7

Molecular functions related to Embryonal Rhabdomyosarcoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.5GLI1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet