MCID: BTR001
MIFTS: 43

Botryoid Rhabdomyosarcoma

Categories: Rare diseases, Cancer diseases, Fetal diseases

Aliases & Classifications for Botryoid Rhabdomyosarcoma

MalaCards integrated aliases for Botryoid Rhabdomyosarcoma:

Name: Botryoid Rhabdomyosarcoma 12 14 69
Sarcoma Botryoides 12 50
Botryoid Sarcoma 12 69
Botryoid-Type Embryonal Rhabdomyosarcoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3255
NCIt 47 C9150
UMLS 69 C1306573

Summaries for Botryoid Rhabdomyosarcoma

MalaCards based summary : Botryoid Rhabdomyosarcoma, also known as sarcoma botryoides, is related to rhabdomyosarcoma 2, alveolar and vulvar childhood botryoid-type embryonal rhabdomyosarcoma. An important gene associated with Botryoid Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Doxorubicin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and bone marrow, and related phenotypes are homeostasis/metabolism and cellular

Wikipedia : 72 Sarcoma botryoides or botryoid sarcoma or botryoid rhabdomyosarcoma is a subtype of embryonal... more...

Related Diseases for Botryoid Rhabdomyosarcoma

Diseases in the Botryoid Rhabdomyosarcoma family:

Adult Botryoid Rhabdomyosarcoma

Diseases related to Botryoid Rhabdomyosarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
id Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 2, alveolar 30.4 DES ENO2 FOXO1 MB MYOD1 MYOG
2 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.2
3 childhood botryoid rhabdomyosarcoma 12.0
4 childhood vagina botryoid rhabdomyosarcoma 12.0
5 vagina botryoid rhabdomyosarcoma 12.0
6 adult botryoid rhabdomyosarcoma 12.0
7 adult vagina botryoid rhabdomyosarcoma 12.0
8 rhabdomyosarcoma, somatic 11.1
9 rhabdomyosarcoma, embryonal, 2 11.1
10 embryonal rhabdomyosarcoma 11.0
11 marfanoid habitus-inguinal hernia-advanced bone age syndrome 10.9 ACTC1 DES
12 phagocyte bactericidal dysfunction 10.9 MB MYOG
13 gigantism 10.9 DES MB
14 telo2-related intellectual disability-neurodevelopmental disorder 10.9 ACTC1 DES
15 aortic aneurysm 10.9 ACTC1 DES
16 omphalocele 10.9 DES MYOD1
17 esophagus leiomyosarcoma 10.8 ACTC1 DES
18 primary pulmonary lymphoma 10.8 MYOD1 MYOG
19 pineal parenchymal tumor of intermediate differentiation 10.8 MYOD1 PAX3
20 spleen angiosarcoma 10.8 ACTC1 DES
21 testis rhabdomyosarcoma 10.8 DES MYOD1 MYOG
22 intellectual disability-polydactyly-uncombable hair syndrome 10.8 DES ENO2
23 spleen cancer 10.8 DES MB MYOD1
24 skin lipoma 10.8 ACTC1 DES
25 transitional cell carcinoma 10.8 DES MB MYOD1
26 mucinous ovarian cystadenoma 10.8 DES MB MYOD1
27 bile duct sarcoma 10.8 MB MYOD1 MYOG
28 laryngeal neuroendocrine tumor 10.7 ACTC1 DES
29 enamel hypoplasia cataract hydrocephaly 10.7 DES MYOD1 MYOG
30 large cell carcinoma 10.7 AGO2 ENO2
31 nephrogenic adenoma of urinary bladder 10.7 ACTC1 DES MYOG
32 embryonal extrahepatic bile duct rhabdomyosarcoma 10.7 MB MYOD1 PAX3
33 uniparental disomy of chromosome 11 10.7 ACTC1 DES
34 multiple mitochondrial dysfunctions syndrome 2 10.7 ACTC1 DES MB
35 liposarcoma of bone 10.7 ENO2 WT1
36 conjunctivochalasis 10.7 DICER1 WT1
37 cutaneous liposarcoma 10.7 MYOD1 MYOG WT1
38 pineal region yolk sac tumor 10.7 DES ENO2
39 dystonia 10.6 MYOG SYP
40 gingival hypertrophy 10.6 AFP WT1
41 rhabdomyosarcoma 10.6
42 uveal melanoma 10.6 AFP WT1
43 myoma 10.6 ACTC1 DES ENO2
44 vagina, absence of 10.6 DES MB WT1
45 2q31.1 microdeletion syndrome 10.6 ENO2 SYP
46 nodular tenosynovitis 10.6 MYOD1 MYOG WT1
47 myxoid leiomyosarcoma 10.6 ACTC1 DES ENO2
48 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.6 DES DICER1 MB
49 histiocytoma 10.6 ACTC1 DES MB
50 nodular medulloblastoma 10.6 AFP ENO2

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



Diseases related to Botryoid Rhabdomyosarcoma

Symptoms & Phenotypes for Botryoid Rhabdomyosarcoma

MGI Mouse Phenotypes related to Botryoid Rhabdomyosarcoma:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 DES DICER1 FOXO1 HRAS INSM1 MB
2 cellular MP:0005384 10.29 DES DICER1 ENO2 FOXO1 ACTC1 AGO2
3 behavior/neurological MP:0005386 10.28 AFP DES DICER1 ENO2 FOXO1 HRAS
4 growth/size/body region MP:0005378 10.28 ACTC1 AGO2 DICER1 ENO2 FOXO1 HRAS
5 mortality/aging MP:0010768 10.24 MYOD1 MYOG PAX3 SOX2 WT1 ACTC1
6 cardiovascular system MP:0005385 10.22 ACTC1 AGO2 DES DICER1 FOXO1 HRAS
7 endocrine/exocrine gland MP:0005379 10.16 AFP AGO2 DICER1 FOXO1 HRAS INSM1
8 embryo MP:0005380 10.13 WT1 AGO2 DICER1 FOXO1 MB MYF5
9 craniofacial MP:0005382 10.1 DICER1 ENO2 FOXO1 HRAS INSM1 MYF5
10 muscle MP:0005369 10.02 ACTC1 DES FOXO1 MB MYF5 MYOD1
11 neoplasm MP:0002006 9.91 AFP DICER1 FOXO1 HRAS MYF5 MYOD1
12 no phenotypic analysis MP:0003012 9.9 MYOD1 MYOG PAX3 SOX2 WT1 AGO2
13 normal MP:0002873 9.73 ACTC1 AGO2 DICER1 FOXO1 HRAS MYF5
14 respiratory system MP:0005388 9.36 DICER1 ENO2 HRAS INSM1 MB MYF5

Drugs & Therapeutics for Botryoid Rhabdomyosarcoma

Drugs for Botryoid Rhabdomyosarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
2
Vincristine Approved, Investigational Phase 3,Phase 2 2068-78-2, 57-22-7 5978
3
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
4
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
5
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
6
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 498142 38904
7
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
8
Morphine Approved, Investigational Phase 3 57-27-2 5288826
9
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
10
Dactinomycin Approved Phase 3,Phase 2 50-76-0 2019 457193
11
Irinotecan Approved, Investigational Phase 3,Phase 2 97682-44-5, 100286-90-6 60838
12
Lenograstim Approved Phase 3,Phase 2 135968-09-1
13
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
14
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
15
Everolimus Approved Phase 3 159351-69-6 6442177
16
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
17
Doxil Approved June 1999 Phase 3,Phase 2 31703
18
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
19 Isophosphamide mustard Phase 3,Phase 2
20 Alkylating Agents Phase 3,Phase 2
21 topoisomerase I inhibitors Phase 3,Phase 2
22 Topoisomerase Inhibitors Phase 3,Phase 2
23 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
24 Anti-Bacterial Agents Phase 3,Phase 2
25 Anti-Infective Agents Phase 3,Phase 2
26 Etoposide phosphate Phase 3,Phase 2
27 Immunosuppressive Agents Phase 3,Phase 2
28 Antibiotics, Antitubercular Phase 3,Phase 2
29 Antirheumatic Agents Phase 3,Phase 2
30 Antimitotic Agents Phase 3,Phase 2
31 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
32 Adjuvants, Immunologic Phase 3
33 Antifungal Agents Phase 3
34
Tirapazamine Investigational Phase 2 27314-97-2

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Combination Chemotherapy in Treating Young Patients With Nonmetastatic Rhabdomyosarcoma Unknown status NCT00379457 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;ifosfamide;topotecan hydrochloride;vincristine sulfate;vinorelbine tartrate
2 Combination Chemotherapy in Treating Patients With Previously Untreated Rhabdomyosarcoma Completed NCT00003958 Phase 3 vincristine sulfate;cyclophosphamide;topotecan hydrochloride
3 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
4 Combination Chemotherapy With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00002995 Phase 3 cyclophosphamide;vincristine sulfate
5 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
6 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Low-Risk Rhabdomyosarcoma Active, not recruiting NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
7 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Suspended NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate
8 Vincristine, Dactinomycin, and Cyclophosphamide in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245089 Phase 2 cyclophosphamide;vincristine sulfate
9 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245141 Phase 2 cyclophosphamide;vincristine sulfate
10 Comparison of Chemotherapy Regimens in Treating Children With Relapsed or Progressive Rhabdomyosarcoma Completed NCT00025363 Phase 2 vincristine sulfate;irinotecan hydrochloride;cyclophosphamide;doxorubicin hydrochloride;ifosfamide;etoposide;tirapazamine
11 Combination Chemotherapy in Treating Children With Metastatic Rhabdomyosarcoma or Other Malignant Mesenchymal Tumors Completed NCT00025441 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
12 DNA Tests in Detecting Disseminated Disease in Tumor, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma Completed NCT01419509

Search NIH Clinical Center for Botryoid Rhabdomyosarcoma

Genetic Tests for Botryoid Rhabdomyosarcoma

Anatomical Context for Botryoid Rhabdomyosarcoma

MalaCards organs/tissues related to Botryoid Rhabdomyosarcoma:

39
Testes, Bone, Bone Marrow, Cervix, Uterus, Prostate

Publications for Botryoid Rhabdomyosarcoma

Articles related to Botryoid Rhabdomyosarcoma:

(show all 37)
id Title Authors Year
1
Botryoid Rhabdomyosarcoma of the Cervix: Case report with review of the literature. ( 26357564 )
2015
2
A botryoid rhabdomyosarcoma diagnosed as a choledochal cyst. ( 23832499 )
2013
3
Botryoid rhabdomyosarcoma of the uterine cervix. ( 22943732 )
2012
4
Embryonal (botryoides) rhabdomyosarcoma of the uterus harboring a primitive neuroectodermal tumor component. ( 22653355 )
2012
5
Massive diffuse intraperitoneal multicystic mass in an infant. Botryoid rhabdomyosarcoma (RMS). ( 22421724 )
2012
6
Primary gallbladder sarcoma: a clinicopathologic study of 15 cases, heterogeneous sarcomas with poor outcome, except pediatric botryoid rhabdomyosarcoma. ( 19194282 )
2009
7
Urinary bladder botryoid rhabdomyosarcoma with widespread metastases in an 8-month-old Labrador cross dog. ( 20169756 )
2009
8
Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. ( 17630111 )
2007
9
Primary renal botryoid rhabdomyosarcoma: diagnosis and outcome. ( 18082685 )
2007
10
Botryoid rhabdomyosarcoma of the biliary tract in children: a unique case report. ( 17177904 )
2006
11
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16010486 )
2005
12
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16220232 )
2005
13
Botryoid rhabdomyosarcoma of common bile duct. ( 15107524 )
2004
14
Botryoid rhabdomyosarcoma of vagina--two case reports. ( 15887839 )
2004
15
Botryoid rhabdomyosarcoma of mesentery--a case report. ( 15025305 )
2003
16
Urinary Bladder Botryoid Rhabdomyosarcoma with Immature Cartilage in a 24-year-old Male Patient: A Case Report. ( 17657126 )
2003
17
[Embryonal botryoid rhabdomyosarcoma of the bladder]. ( 12410104 )
2002
18
Botryoid rhabdomyosarcoma of the bladder in an adult female. ( 17955586 )
2002
19
Botryoid rhabdomyosarcoma of the nose: pitfalls of pathology. ( 11359096 )
2001
20
Isochromosome (17)(q10) as the sole structural chromosomal rearrangement in a case of botryoid rhabdomyosarcoma. ( 11454423 )
2001
21
Botryoid rhabdomyosarcoma of prostate--a case report. ( 12562002 )
2001
22
Cytogenetic abnormalities in a case of botryoid rhabdomyosarcoma. ( 10742076 )
2000
23
Botryoid rhabdomyosarcoma of the bladder. ( 9338741 )
1997
24
Unique dermal and subcutaneous botryoid rhabdomyosarcoma associated with mature renal tissue: is this an extrarenal Wilms' tumor? ( 7971581 )
1994
25
Cytogenetic study of botryoid rhabdomyosarcoma of the uterine cervix. ( 8438559 )
1993
26
Botryoid rhabdomyosarcoma of the urinary bladder in a filly. ( 8373864 )
1993
27
Computed tomography in botryoid rhabdomyosarcoma of urinary bladder. ( 2346927 )
1990
28
Laryngeal botryoid rhabdomyosarcoma in an adult. Report of a case with electron microscopic study. ( 2780434 )
1989
29
Embryonal botryoid rhabdomyosarcoma of the mitral valve. ( 3946244 )
1986
30
Botryoid rhabdomyosarcoma of the nasopharynx. ( 6864097 )
1983
31
Botryoid rhabdomyosarcoma of the gallbladder in a child. ( 7055789 )
1982
32
Botryoid rhabdomyosarcoma in the urinary bladder of a dog. ( 7281468 )
1981
33
Botryoid rhabdomyosarcoma of the biliary tract. ( 7337157 )
1981
34
Botryoid rhabdomyosarcoma of the uterus of a filly. ( 7400023 )
1980
35
Botryoid rhabdomyosarcoma of the urinary bladder and hypertrophic osteoarthropathy in a young dog. ( 4473190 )
1974
36
Nasal botryoid rhabdomyosarcoma. ( 5040563 )
1972
37
Botryoid rhabdomyosarcoma of the urinary bladder of a dog. ( 5693155 )
1968

Variations for Botryoid Rhabdomyosarcoma

Cosmic variations for Botryoid Rhabdomyosarcoma:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM13016 PTPN11 soft tissue,bladder,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 7
2 COSM532 KRAS soft tissue,bladder,rhabdomyosarcoma,embryonal c.38G>A p.G13D 7

Expression for Botryoid Rhabdomyosarcoma

Search GEO for disease gene expression data for Botryoid Rhabdomyosarcoma.

Pathways for Botryoid Rhabdomyosarcoma

Pathways related to Botryoid Rhabdomyosarcoma according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.71 BCL2A1 FOXO1 PAX3 WT1
2 11 DES MYF5 MYOD1 MYOG PAX3
3 10.7 AGO2 DICER1 HRAS

GO Terms for Botryoid Rhabdomyosarcoma

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

id Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.16 AGO2 DICER1
2 RISC-loading complex GO:0070578 8.96 AGO2 DICER1
3 micro-ribonucleoprotein complex GO:0035068 8.32 AGO2
4 cytosol GO:0005829 10 ACTC1 AFP AGO2 DES DICER1 ENO2

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.97 FOXO1 MYF5 MYOD1 PAX3 WT1
2 positive regulation of transcription, DNA-templated GO:0045893 9.95 FOXO1 MYOD1 MYOG PAX3 SOX2 WT1
3 skeletal muscle tissue development GO:0007519 9.7 MYF5 MYOD1 MYOG
4 skeletal muscle cell differentiation GO:0035914 9.67 MYF5 MYOD1 MYOG
5 muscle organ development GO:0007517 9.67 MYF5 MYOD1 MYOG PAX3
6 miRNA metabolic process GO:0010586 9.59 AGO2 DICER1
7 production of miRNAs involved in gene silencing by miRNA GO:0035196 9.58 AGO2 DICER1
8 positive regulation of muscle cell differentiation GO:0051149 9.58 MYF5 MYOD1 MYOG
9 myotube differentiation GO:0014902 9.57 MYOD1 MYOG
10 pre-miRNA processing GO:0031054 9.56 AGO2 DICER1
11 production of siRNA involved in RNA interference GO:0030422 9.55 AGO2 DICER1
12 miRNA loading onto RISC involved in gene silencing by miRNA GO:0035280 9.54 AGO2 DICER1
13 positive regulation of myoblast differentiation GO:0045663 9.5 MYF5 MYOD1 MYOG
14 siRNA loading onto RISC involved in RNA interference GO:0035087 9.43 AGO2 DICER1
15 positive regulation of myoblast fusion GO:1901741 9.43 MYF5 MYOD1 MYOG
16 positive regulation of skeletal muscle fiber development GO:0048743 9.33 MYF5 MYOD1 MYOG
17 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.32 AGO2 FOXO1 HRAS MYF5 MYOD1 MYOG
18 muscle cell fate commitment GO:0042693 9.13 MYF5 MYOD1 MYOG
19 regulation of transcription, DNA-templated GO:0006355 10.21 AGO2 FOXO1 INSM1 MYF5 MYOD1 MYOG
20 transcription, DNA-templated GO:0006351 10.16 AGO2 FOXO1 INSM1 MYF5 MYOD1 MYOG

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.8 FOXO1 INSM1 MYOD1 MYOG PAX3 SOX2
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.54 MYF5 MYOD1 MYOG
3 chromatin DNA binding GO:0031490 9.5 INSM1 MYOD1 MYOG
4 siRNA binding GO:0035197 9.4 AGO2 DICER1
5 E-box binding GO:0070888 9.33 MYF5 MYOD1 MYOG
6 core promoter binding GO:0001047 9.26 AGO2 INSM1 MYOD1 MYOG
7 sequence-specific DNA binding GO:0043565 9.17 FOXO1 MYF5 MYOD1 MYOG PAX3 SOX2

Sources for Botryoid Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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