MCID: BTR001
MIFTS: 43

Botryoid Rhabdomyosarcoma malady

Categories: Rare diseases, Cancer diseases, Fetal diseases

Aliases & Classifications for Botryoid Rhabdomyosarcoma

Aliases & Descriptions 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 CDO in myogenesis. The drugs Doxorubicin and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include cervix, uterus and prostate, and related phenotypes are homeostasis/metabolism and cellular

Wikipedia : 71 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 100)
id Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 2, alveolar 31.3 DES ENO2 FOXO1 MB MYOD1 MYOG
2 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.3
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 embryonal rhabdomyosarcoma 11.2
9 rhabdomyosarcoma, somatic 11.1
10 rhabdomyosarcoma, embryonal, 2 11.1
11 rhabdomyosarcoma 10.6
12 oral erosive lichen 10.3 ACTC1 DES
13 heart leiomyosarcoma 10.3 DES MYOG
14 subacute leukemia 10.3 MB MYOG
15 testis sarcoma 10.3 DES MYOD1 MYOG
16 carbon monoxide-induced parkinsonism 10.3 ACTC1 DES
17 verruciform xanthoma of skin 10.3 DES MB MYOD1
18 intrahepatic bile duct cystadenoma 10.3 DES MB MYOD1
19 transitional cell carcinoma 10.3 DES MB MYOD1
20 ovarian cystadenoma 10.3 DES MB MYOD1
21 glaucoma iridogoniodysgenesia 10.3 DES MB
22 enchondromatosis dwarfism deafness 10.3 DES MYOD1 MYOG
23 t-cell childhood lymphoblastic lymphoma 10.3 ACTC1 DES MB
24 juvenile xanthogranuloma 10.3 ACTC1 DES MYOD1
25 malignant dermis tumor 10.2 ACTC1 DES ENO2
26 conjunctival disease 10.2 DICER1 MYOD1 WT1
27 liver angiosarcoma 10.2 DES DICER1 WT1
28 breast rhabdomyosarcoma 10.2 DES ENO2 PAX3
29 hormone producing pituitary cancer 10.2 MYOD1 MYOG WT1
30 malignant mixed mullerian tumor 10.2 DES ENO2
31 mixed type rhabdomyosarcoma 10.2 DES MB MYOD1 MYOG
32 vagina leiomyosarcoma 10.2 ACTC1 DES
33 nodular tenosynovitis 10.2 MYOD1 MYOG WT1
34 van regemorter pierquin vamos syndrome 10.2 DES MB WT1
35 palmoplantar keratosis 10.2 DES MB MYOG
36 bile duct rhabdomyosarcoma 10.2 DES MB MYOD1 PAX3
37 type c thymoma 10.2 AGO2 ENO2
38 sebaceous adenoma 10.2 ACTC1 DES SYP
39 petrous apex meningioma 10.2 AFP DES WT1
40 plexopathy 10.2 ENO2 MB WT1
41 glomangioma 10.2 ACTC1 DES SYP
42 exudative glomerulonephritis 10.2 DES DICER1 SYP
43 extraosseous osteosarcoma 10.2 DES HRAS MYOD1
44 hyperpituitarism 10.2 ACTC1 DES ENO2 MB
45 scirrhous adenocarcinoma 10.2 ACTC1 DES SYP
46 intrahepatic bile duct adenoma 10.2 MYOG SYP
47 thymus small cell carcinoma 10.2 ENO2 SYP
48 congenital muscular dystrophy with hyperlaxity 10.1 DES ENO2 SYP
49 advanced sleep-phase syndrome, familial, 2 10.1 DES MB MYOD1 SYP
50 hunter macpherson syndrome 10.1 ACTC1 ENO2 SYP

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 ACTC1 AFP AGO2 DES DICER1 FOXO1
2 cellular MP:0005384 10.29 SOX2 WT1 ACTC1 AGO2 DES DICER1
3 behavior/neurological MP:0005386 10.28 MYOG PAX3 SOX2 SYP AFP DES
4 growth/size/body region MP:0005378 10.28 ACTC1 AGO2 DICER1 ENO2 FOXO1 HRAS
5 mortality/aging MP:0010768 10.24 WT1 ACTC1 AFP AGO2 DES DICER1
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 AGO2 DICER1 FOXO1 MB MYF5 MYOG
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 PAX3 SOX2 WT1 AFP DICER1 FOXO1
12 no phenotypic analysis MP:0003012 9.9 AGO2 DICER1 FOXO1 HRAS INSM1 MYF5
13 normal MP:0002873 9.73 FOXO1 HRAS MYF5 MYOD1 MYOG PAX3
14 respiratory system MP:0005388 9.36 ENO2 HRAS INSM1 MB MYF5 MYOD1

Drugs & Therapeutics for Botryoid Rhabdomyosarcoma

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

(show all 48)
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
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
18
Cyproheptadine Approved Phase 3 129-03-3 2913
19
Doxil Approved June 1999 Phase 3,Phase 2 31703
20
Camptothecin Experimental Phase 3,Phase 2 7689-03-4
21 Alkylating Agents Phase 3,Phase 2
22 topoisomerase I inhibitors Phase 3,Phase 2
23 Topoisomerase Inhibitors Phase 3,Phase 2
24 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
25 Anti-Bacterial Agents Phase 3,Phase 2
26 Etoposide phosphate Phase 3,Phase 2
27 Anti-Infective Agents Phase 3,Phase 2
28 Immunosuppressive Agents Phase 3,Phase 2
29 Isophosphamide mustard Phase 3,Phase 2
30 Antibiotics, Antitubercular Phase 3,Phase 2
31 Antimitotic Agents Phase 3,Phase 2
32 Antirheumatic Agents Phase 3,Phase 2
33 Antineoplastic Agents, Alkylating Phase 3,Phase 2
34 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
35 Adjuvants, Immunologic Phase 3
36 Antifungal Agents Phase 3
37
Histamine Phosphate Phase 3 51-74-1 65513
38
Serotonin Phase 3 50-67-9 5202
39 Serotonin Agents Phase 3
40 Serotonin Antagonists Phase 3
41 Gastrointestinal Agents Phase 3
42 Neurotransmitter Agents Phase 3
43 Histamine Antagonists Phase 3
44 Histamine H1 Antagonists Phase 3
45 Dermatologic Agents Phase 3
46 Anti-Allergic Agents Phase 3
47 Antipruritics Phase 3
48
Tirapazamine Investigational Phase 2 27314-97-2

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Combination Chemotherapy in Treating Young Patients With Nonmetastatic Rhabdomyosarcoma Unknown status NCT00379457 Phase 3
2 Combination Chemotherapy in Treating Patients With Previously Untreated Rhabdomyosarcoma Completed NCT00003958 Phase 3
3 Combination Chemotherapy With or Without Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Completed NCT00002995 Phase 3
4 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3
5 Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma Active, not recruiting NCT00354835 Phase 3
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
7 Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma Suspended NCT02567435 Phase 3
8 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
9 Vincristine, Dactinomycin, and Cyclophosphamide in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245089 Phase 2
10 Vincristine, Dactinomycin, and Cyclophosphamide With or Without Radiation Therapy in Treating Patients With Embryonal Rhabdomyosarcoma Unknown status NCT00245141 Phase 2
11 Comparison of Chemotherapy Regimens in Treating Children With Relapsed or Progressive Rhabdomyosarcoma Completed NCT00025363 Phase 2
12 Combination Chemotherapy in Treating Children With Metastatic Rhabdomyosarcoma or Other Malignant Mesenchymal Tumors Completed NCT00025441 Phase 2
13 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
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
Massive diffuse intraperitoneal multicystic mass in an infant. Botryoid rhabdomyosarcoma (RMS). ( 22421724 )
2012
4
Embryonal (botryoides) rhabdomyosarcoma of the uterus harboring a primitive neuroectodermal tumor component. ( 22653355 )
2012
5
Botryoid rhabdomyosarcoma of the uterine cervix. ( 22943732 )
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
Primary renal botryoid rhabdomyosarcoma: diagnosis and outcome. ( 18082685 )
2007
9
Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. ( 17630111 )
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. ( 16220232 )
2005
12
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16010486 )
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 prostate--a case report. ( 12562002 )
2001
20
Isochromosome (17)(q10) as the sole structural chromosomal rearrangement in a case of botryoid rhabdomyosarcoma. ( 11454423 )
2001
21
Botryoid rhabdomyosarcoma of the nose: pitfalls of pathology. ( 11359096 )
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 of the biliary tract. ( 7337157 )
1981
33
Botryoid rhabdomyosarcoma in the urinary bladder of a dog. ( 7281468 )
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
Show member pathways
11.2 MYF5 MYOD1 MYOG
3 11 DES MYF5 MYOD1 MYOG PAX3
4 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 8.96 AGO2 DICER1
2 RISC-loading complex GO:0070578 8.62 AGO2 DICER1

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

(show all 21)
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 9.69 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 myotube differentiation GO:0014902 9.58 MYOD1 MYOG
8 positive regulation of muscle cell differentiation GO:0051149 9.58 MYF5 MYOD1 MYOG
9 pre-miRNA processing GO:0031054 9.57 AGO2 DICER1
10 production of miRNAs involved in gene silencing by miRNA GO:0035196 9.56 AGO2 DICER1
11 miRNA loading onto RISC involved in gene silencing by miRNA GO:0035280 9.55 AGO2 DICER1
12 production of siRNA involved in RNA interference GO:0030422 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 10.22 AGO2 FOXO1 INSM1 MYF5 MYOD1 MYOG
20 transcription, DNA-templated GO:0006351 10.16 AGO2 FOXO1 INSM1 MYF5 MYOD1 MYOG
21 transcription from RNA polymerase II promoter GO:0006366 10 MYF5 MYOD1 PAX3 SOX2 WT1

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 9.58 MYF5 MYOD1 MYOG
3 chromatin DNA binding GO:0031490 9.5 INSM1 MYOD1 MYOG
4 sequence-specific DNA binding GO:0043565 9.5 FOXO1 MYF5 MYOD1 MYOG PAX3 SOX2
5 miRNA binding GO:0035198 9.43 AGO2 SOX2
6 siRNA binding GO:0035197 9.37 AGO2 DICER1
7 E-box binding GO:0070888 9.33 MYF5 MYOD1 MYOG
8 core promoter binding GO:0001047 8.92 AGO2 INSM1 MYOD1 MYOG

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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