MCID: BTR001
MIFTS: 40

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 49
Botryoid Sarcoma 12 69
Botryoid-Type Embryonal Rhabdomyosarcoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3255
NCIt 46 C9150

Summaries for Botryoid Rhabdomyosarcoma

MalaCards based summary : Botryoid Rhabdomyosarcoma, also known as sarcoma botryoides, is related to embryonal rhabdomyosarcoma and rhabdomyosarcoma 2. An important gene associated with Botryoid Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Myogenesis. Affiliated tissues include cervix, uterus and prostate, 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)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 32.3 DES DICER1 FOXO1 MB MYOD1 MYOG
2 rhabdomyosarcoma 2 31.0 DES ENO2 FOXO1 MB MYOD1 MYOG
3 gallbladder sarcoma 30.7 DES MYOD1 MYOG
4 pleomorphic rhabdomyosarcoma 30.2 FOXO1 MB MYOD1 PAX3
5 rhabdomyosarcoma 29.6 DES DICER1 ENO2 FOXO1 MB MYF5
6 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 12.4
7 childhood botryoid rhabdomyosarcoma 12.1
8 childhood vagina botryoid rhabdomyosarcoma 12.1
9 vagina botryoid rhabdomyosarcoma 12.1
10 adult botryoid rhabdomyosarcoma 12.1
11 adult vagina botryoid rhabdomyosarcoma 12.1
12 rhabdomyosarcoma, embryonal, 2 11.2
13 rhabdomyosarcoma, embryonal, 1 11.2
14 giant cell myocarditis 10.6 DES MB
15 ovarian fibrothecoma 10.6 ACTC1 DES
16 orbit rhabdomyosarcoma 10.6 MB MYOG
17 fibroblastic rheumatism 10.6 ACTC1 DES
18 cervical polyp 10.6 DES MYOD1
19 angiolipoma 10.6 ACTC1 DES
20 cutaneous leiomyosarcoma 10.6 ACTC1 DES
21 undifferentiated embryonal sarcoma of the liver 10.6 MYOD1 MYOG
22 parachordoma 10.5 ACTC1 DES
23 primitive neuroectodermal tumor of the cervix uteri 10.5 DES ENO2
24 malignant triton tumor 10.5 DES MB MYOD1
25 mesenchymoma 10.5 DES MB MYOD1
26 spindle cell rhabdomyosarcoma 10.5 DES MB MYOD1
27 embryonal sarcoma 10.5 DES MYOD1 MYOG
28 kidney clear cell sarcoma 10.5 DES WT1
29 extraskeletal mesenchymal chondrosarcoma 10.5 AGO2 ENO2
30 pseudosarcomatous fibromatosis 10.5 ACTC1 DES MYOG
31 malignant fibroxanthoma 10.5 ACTC1 DES MYOD1
32 infantile myofibromatosis 10.5 ACTC1 DES MB
33 kidney sarcoma 10.5 DICER1 WT1
34 epulis 10.5 DES ENO2
35 spindle cell liposarcoma 10.4 MYOD1 MYOG WT1
36 syringocystadenoma papilliferum 10.4 ACTC1 DES
37 endometrial stromal sarcoma 10.4 ACTC1 DES MB
38 uterine sarcoma 10.4 DES MB WT1
39 nephrogenic adenofibroma 10.4 MYOD1 MYOG WT1
40 ossifying fibromyxoid tumor 10.4 ACTC1 DES ENO2
41 epithelioid leiomyosarcoma 10.4 ACTC1 DES ENO2
42 melanotic medulloblastoma 10.4 AFP ENO2
43 testicular granulosa cell tumor 10.4 AFP WT1
44 juvenile type testicular granulosa cell tumor 10.4 AFP WT1
45 neonatal myasthenia gravis 10.4 AFP MB
46 benign metastasizing leiomyoma 10.4 ACTC1 DES
47 spindle cell lipoma 10.4 ACTC1 DES FOXO1
48 breast rhabdomyosarcoma 10.4 DES MB MYOD1 MYOG
49 lung combined type small cell carcinoma 10.4 MYOG SYP
50 central nervous system mesenchymal non-meningothelial tumor 10.4 FOXO1 MYOD1 PAX3

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:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 PAX3 WT1 PTPRN SOX2 AFP AGO2
2 cellular MP:0005384 10.29 PAX3 WT1 SOX2 ACTC1 DICER1 ENO2
3 behavior/neurological MP:0005386 10.28 SYP PAX3 MYOG SOX2 AFP DICER1
4 growth/size/body region MP:0005378 10.28 PAX3 WT1 SOX2 MYOG ACTC1 DICER1
5 mortality/aging MP:0010768 10.24 PAX3 WT1 SOX2 MYOG ACTC1 DICER1
6 cardiovascular system MP:0005385 10.22 PAX3 WT1 ACTC1 DICER1 AGO2 DES
7 endocrine/exocrine gland MP:0005379 10.16 PAX3 WT1 PTPRN SOX2 DICER1 AFP
8 embryo MP:0005380 10.13 PAX3 WT1 MYOG SOX2 DICER1 AGO2
9 craniofacial MP:0005382 10.1 PAX3 SOX2 DICER1 ENO2 FOXO1 MYF5
10 muscle MP:0005369 10.06 PAX3 WT1 SOX2 FOXO1 DES ACTC1
11 neoplasm MP:0002006 9.91 PAX3 WT1 SOX2 DICER1 AFP FOXO1
12 no phenotypic analysis MP:0003012 9.9 PAX3 WT1 SOX2 AGO2 FOXO1 DICER1
13 normal MP:0002873 9.73 SYP PAX3 WT1 SOX2 AGO2 FOXO1
14 respiratory system MP:0005388 9.36 PAX3 WT1 SOX2 ENO2 DICER1 HRAS

Drugs & Therapeutics for Botryoid Rhabdomyosarcoma

Search Clinical Trials , NIH Clinical Center for Botryoid Rhabdomyosarcoma

Genetic Tests for Botryoid Rhabdomyosarcoma

Anatomical Context for Botryoid Rhabdomyosarcoma

MalaCards organs/tissues related to Botryoid Rhabdomyosarcoma:

38
Cervix, Uterus, Prostate

Publications for Botryoid Rhabdomyosarcoma

Articles related to Botryoid Rhabdomyosarcoma:

(show all 38)
# Title Authors Year
1
Local control for vaginal botryoid rhabdomyosarcoma with prerectal transperineal surgical resection and autologous buccal graft vaginal replacement: A novel, minimally invasive, radiation-sparing approach. ( 29258699 )
2017
2
Botryoid Rhabdomyosarcoma of the Cervix: Case report with review of the literature. ( 26357564 )
2015
3
A botryoid rhabdomyosarcoma diagnosed as a choledochal cyst. ( 23832499 )
2013
4
Botryoid rhabdomyosarcoma of the uterine cervix. ( 22943732 )
2012
5
Massive diffuse intraperitoneal multicystic mass in an infant. Botryoid rhabdomyosarcoma (RMS). ( 22421724 )
2012
6
Embryonal (botryoides) rhabdomyosarcoma of the uterus harboring a primitive neuroectodermal tumor component. ( 22653355 )
2012
7
Urinary bladder botryoid rhabdomyosarcoma with widespread metastases in an 8-month-old Labrador cross dog. ( 20169756 )
2009
8
Primary gallbladder sarcoma: a clinicopathologic study of 15 cases, heterogeneous sarcomas with poor outcome, except pediatric botryoid rhabdomyosarcoma. ( 19194282 )
2009
9
Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. ( 17630111 )
2007
10
Primary renal botryoid rhabdomyosarcoma: diagnosis and outcome. ( 18082685 )
2007
11
Botryoid rhabdomyosarcoma of the biliary tract in children: a unique case report. ( 17177904 )
2006
12
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16220232 )
2005
13
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16010486 )
2005
14
Botryoid rhabdomyosarcoma of vagina--two case reports. ( 15887839 )
2004
15
Botryoid rhabdomyosarcoma of common bile duct. ( 15107524 )
2004
16
Botryoid rhabdomyosarcoma of mesentery--a case report. ( 15025305 )
2003
17
Urinary Bladder Botryoid Rhabdomyosarcoma with Immature Cartilage in a 24-year-old Male Patient: A Case Report. ( 17657126 )
2003
18
[Embryonal botryoid rhabdomyosarcoma of the bladder]. ( 12410104 )
2002
19
Botryoid rhabdomyosarcoma of the bladder in an adult female. ( 17955586 )
2002
20
Botryoid rhabdomyosarcoma of prostate--a case report. ( 12562002 )
2001
21
Isochromosome (17)(q10) as the sole structural chromosomal rearrangement in a case of botryoid rhabdomyosarcoma. ( 11454423 )
2001
22
Botryoid rhabdomyosarcoma of the nose: pitfalls of pathology. ( 11359096 )
2001
23
Cytogenetic abnormalities in a case of botryoid rhabdomyosarcoma. ( 10742076 )
2000
24
Botryoid rhabdomyosarcoma of the bladder. ( 9338741 )
1997
25
Unique dermal and subcutaneous botryoid rhabdomyosarcoma associated with mature renal tissue: is this an extrarenal Wilms' tumor? ( 7971581 )
1994
26
Botryoid rhabdomyosarcoma of the urinary bladder in a filly. ( 8373864 )
1993
27
Cytogenetic study of botryoid rhabdomyosarcoma of the uterine cervix. ( 8438559 )
1993
28
Computed tomography in botryoid rhabdomyosarcoma of urinary bladder. ( 2346927 )
1990
29
Laryngeal botryoid rhabdomyosarcoma in an adult. Report of a case with electron microscopic study. ( 2780434 )
1989
30
Embryonal botryoid rhabdomyosarcoma of the mitral valve. ( 3946244 )
1986
31
Botryoid rhabdomyosarcoma of the nasopharynx. ( 6864097 )
1983
32
Botryoid rhabdomyosarcoma of the gallbladder in a child. ( 7055789 )
1982
33
Botryoid rhabdomyosarcoma in the urinary bladder of a dog. ( 7281468 )
1981
34
Botryoid rhabdomyosarcoma of the biliary tract. ( 7337157 )
1981
35
Botryoid rhabdomyosarcoma of the uterus of a filly. ( 7400023 )
1980
36
Botryoid rhabdomyosarcoma of the urinary bladder and hypertrophic osteoarthropathy in a young dog. ( 4473190 )
1974
37
Nasal botryoid rhabdomyosarcoma. ( 5040563 )
1972
38
Botryoid rhabdomyosarcoma of the urinary bladder of a dog. ( 5693155 )
1968

Variations for Botryoid Rhabdomyosarcoma

Cosmic variations for Botryoid Rhabdomyosarcoma:

9
# 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:

# Super pathways Score Top Affiliating Genes
1 11.73 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:

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.16 AGO2 DICER1
2 micro-ribonucleoprotein complex GO:0035068 8.96 AGO2 DICER1
3 RISC-loading complex GO:0070578 8.62 AGO2 DICER1
4 cytosol GO:0005829 10.03 ACTC1 AFP AGO2 DES DICER1 ENO2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 FOXO1 MYOD1 MYOG PAX3 SOX2 WT1
2 muscle organ development GO:0007517 9.71 MYF5 MYOD1 MYOG PAX3
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 miRNA metabolic process GO:0010586 9.58 AGO2 DICER1
6 production of miRNAs involved in gene silencing by miRNA GO:0035196 9.58 AGO2 DICER1
7 myotube differentiation GO:0014902 9.57 MYOD1 MYOG
8 pre-miRNA processing GO:0031054 9.56 AGO2 DICER1
9 production of siRNA involved in RNA interference GO:0030422 9.55 AGO2 DICER1
10 miRNA loading onto RISC involved in gene silencing by miRNA GO:0035280 9.54 AGO2 DICER1
11 positive regulation of muscle cell differentiation GO:0051149 9.54 MYF5 MYOD1 MYOG
12 positive regulation of myoblast differentiation GO:0045663 9.5 MYF5 MYOD1 MYOG
13 siRNA loading onto RISC involved in RNA interference GO:0035087 9.46 AGO2 DICER1
14 positive regulation of myoblast fusion GO:1901741 9.43 MYF5 MYOD1 MYOG
15 positive regulation of skeletal muscle fiber development GO:0048743 9.33 MYF5 MYOD1 MYOG
16 positive regulation of transcription by RNA polymerase II GO:0045944 9.32 AGO2 FOXO1 HRAS MYF5 MYOD1 MYOG
17 muscle cell fate commitment GO:0042693 9.13 MYF5 MYOD1 MYOG
18 regulation of transcription, DNA-templated GO:0006355 10.21 AGO2 FOXO1 INSM1 MYF5 MYOD1 MYOG
19 transcription, DNA-templated GO:0006351 10.13 AGO2 FOXO1 INSM1 MYF5 MYOD1 MYOG

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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