MCID: BTR001
MIFTS: 32

Botryoid Rhabdomyosarcoma

Categories: Rare diseases, Cancer diseases, Muscle diseases, Fetal diseases

Aliases & Classifications for Botryoid Rhabdomyosarcoma

MalaCards integrated aliases for Botryoid Rhabdomyosarcoma:

Name: Botryoid Rhabdomyosarcoma 12 15 73
Sarcoma Botryoides 12 53
Botryoid Sarcoma 12 73
Botryoid-Type Embryonal Rhabdomyosarcoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3255
NCIt 50 C9150

Summaries for Botryoid Rhabdomyosarcoma

MalaCards based summary : Botryoid Rhabdomyosarcoma, also known as sarcoma botryoides, is related to embryonal rhabdomyosarcoma and gallbladder sarcoma. An important gene associated with Botryoid Rhabdomyosarcoma is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways are Striated Muscle Contraction and Regulation of retinoblastoma protein. Affiliated tissues include cervix, uterus and prostate, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 76 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 96)
# Related Disease Score Top Affiliating Genes
1 embryonal rhabdomyosarcoma 31.3 DES MB MYOD1 PAX3
2 gallbladder sarcoma 30.4 DES MYOD1
3 rhabdomyosarcoma 2 30.3 DES MB MYOD1 PAX3
4 pleomorphic rhabdomyosarcoma 29.2 MB MYOD1 PAX3
5 rhabdomyosarcoma 28.2 ACTC1 DES MB MYOD1 PAX3
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 cervical polyp 10.3 DES MYOD1
15 ectomesenchymoma 10.3 DES PAX3
16 inflammatory leiomyosarcoma 10.3 DES MYOD1
17 horner's syndrome 10.3 DES MYOD1
18 malignant fibrous histiocytoma of bone 10.3 DES MYOD1
19 central nervous system mesenchymal non-meningothelial tumor 10.2 MYOD1 PAX3
20 embryonal sarcoma 10.2 DES MYOD1
21 giant cell myocarditis 10.2 DES MB
22 malignant triton tumor 10.2 DES MB
23 myofibroma 10.2 DES MB
24 bilateral retinoblastoma 10.2 DES MB
25 adenosarcoma 10.1 DES MB
26 adult fibrosarcoma 10.1 MB MYOD1
27 uterine sarcoma 10.1 DES MB
28 ovarian fibrothecoma 10.0 ACTC1 DES
29 fibroblastic rheumatism 10.0 ACTC1 DES
30 angiolipoma 10.0 ACTC1 DES
31 cutaneous leiomyosarcoma 10.0 ACTC1 DES
32 spindle cell lipoma 10.0 ACTC1 DES
33 parachordoma 10.0 ACTC1 DES
34 ossifying fibromyxoid tumor 10.0 ACTC1 DES
35 epithelioid leiomyosarcoma 10.0 ACTC1 DES
36 syringocystadenoma papilliferum 10.0 ACTC1 DES
37 benign metastasizing leiomyoma 9.9 ACTC1 DES
38 wilms tumor 5 9.9
39 bile duct cysts 9.9
40 wilms tumor 6 9.9
41 sarcoma 9.9
42 prostatitis 9.9
43 vaginitis 9.9
44 laryngitis 9.9
45 gallbladder rhabdomyosarcoma 9.9
46 ewing's family of tumors 9.9
47 congenital fibrosarcoma 9.9 ACTC1 DES
48 pulmonary vein stenosis 9.9 ACTC1 DES
49 cystic nephroma 9.9 ACTC1 DES
50 pleomorphic liposarcoma 9.9 ACTC1 DES

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ACTC1 DES MB MYOD1 PAX3
2 homeostasis/metabolism MP:0005376 9.55 ACTC1 DES MB MYOD1 PAX3
3 mortality/aging MP:0010768 9.35 ACTC1 DES MB MYOD1 PAX3
4 muscle MP:0005369 9.02 ACTC1 DES MB MYOD1 PAX3

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:

41
Cervix, Uterus, Prostate

Publications for Botryoid Rhabdomyosarcoma

Articles related to Botryoid Rhabdomyosarcoma:

(show all 39)
# 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
Chemotherapy-induced differentiation to cure botryoid rhabdomyosarcoma: a case report and review of the literature. ( 29953806 )
2017
3
Botryoid Rhabdomyosarcoma of the Cervix: Case report with review of the literature. ( 26357564 )
2015
4
A botryoid rhabdomyosarcoma diagnosed as a choledochal cyst. ( 23832499 )
2013
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
Botryoid rhabdomyosarcoma of the uterine cervix. ( 22943732 )
2012
8
Primary gallbladder sarcoma: a clinicopathologic study of 15 cases, heterogeneous sarcomas with poor outcome, except pediatric botryoid rhabdomyosarcoma. ( 19194282 )
2009
9
Urinary bladder botryoid rhabdomyosarcoma with widespread metastases in an 8-month-old Labrador cross dog. ( 20169756 )
2009
10
Primary renal botryoid rhabdomyosarcoma: diagnosis and outcome. ( 18082685 )
2007
11
Right atrial botryoid rhabdomyosarcoma in an adult patient with recurrent pleomorphic rhabdomyosarcomas following doxorubicin therapy. ( 17630111 )
2007
12
Botryoid rhabdomyosarcoma of the biliary tract in children: a unique case report. ( 17177904 )
2006
13
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16010486 )
2005
14
Myogenic markers in the evaluation of embryonal botryoid rhabdomyosarcoma of the female genital tract. ( 16220232 )
2005
15
Botryoid rhabdomyosarcoma of vagina--two case reports. ( 15887839 )
2004
16
Botryoid rhabdomyosarcoma of common bile duct. ( 15107524 )
2004
17
Urinary Bladder Botryoid Rhabdomyosarcoma with Immature Cartilage in a 24-year-old Male Patient: A Case Report. ( 17657126 )
2003
18
Botryoid rhabdomyosarcoma of mesentery--a case report. ( 15025305 )
2003
19
[Embryonal botryoid rhabdomyosarcoma of the bladder]. ( 12410104 )
2002
20
Botryoid rhabdomyosarcoma of the bladder in an adult female. ( 17955586 )
2002
21
Botryoid rhabdomyosarcoma of the nose: pitfalls of pathology. ( 11359096 )
2001
22
Botryoid rhabdomyosarcoma of prostate--a case report. ( 12562002 )
2001
23
Isochromosome (17)(q10) as the sole structural chromosomal rearrangement in a case of botryoid rhabdomyosarcoma. ( 11454423 )
2001
24
Cytogenetic abnormalities in a case of botryoid rhabdomyosarcoma. ( 10742076 )
2000
25
Botryoid rhabdomyosarcoma of the bladder. ( 9338741 )
1997
26
Unique dermal and subcutaneous botryoid rhabdomyosarcoma associated with mature renal tissue: is this an extrarenal Wilms' tumor? ( 7971581 )
1994
27
Cytogenetic study of botryoid rhabdomyosarcoma of the uterine cervix. ( 8438559 )
1993
28
Botryoid rhabdomyosarcoma of the urinary bladder in a filly. ( 8373864 )
1993
29
Computed tomography in botryoid rhabdomyosarcoma of urinary bladder. ( 2346927 )
1990
30
Laryngeal botryoid rhabdomyosarcoma in an adult. Report of a case with electron microscopic study. ( 2780434 )
1989
31
Embryonal botryoid rhabdomyosarcoma of the mitral valve. ( 3946244 )
1986
32
Botryoid rhabdomyosarcoma of the nasopharynx. ( 6864097 )
1983
33
Botryoid rhabdomyosarcoma of the gallbladder in a child. ( 7055789 )
1982
34
Botryoid rhabdomyosarcoma in the urinary bladder of a dog. ( 7281468 )
1981
35
Botryoid rhabdomyosarcoma of the biliary tract. ( 7337157 )
1981
36
Botryoid rhabdomyosarcoma of the uterus of a filly. ( 7400023 )
1980
37
Botryoid rhabdomyosarcoma of the urinary bladder and hypertrophic osteoarthropathy in a young dog. ( 4473190 )
1974
38
Nasal botryoid rhabdomyosarcoma. ( 5040563 )
1972
39
Botryoid rhabdomyosarcoma of the urinary bladder of a dog. ( 5693155 )
1968

Variations for Botryoid Rhabdomyosarcoma

Cosmic variations for Botryoid Rhabdomyosarcoma:

9
(show all 16)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM10654 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 7
2 COSM44720 TP53 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 7
3 COSM13016 PTPN11 soft tissue,bladder,rhabdomyosarcoma,embryonal c.226G>C p.E76Q 12:112450406-112450406 7
4 COSM580 NRAS soft tissue,vagina,rhabdomyosarcoma,embryonal c.181C>A p.Q61K 1:114713909-114713909 7
5 COSM532 KRAS soft tissue,bladder,rhabdomyosarcoma,embryonal c.38G>A p.G13D 12:25245347-25245347 7
6 COSM6930430 KMT2D soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 7
7 COSM99615 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 7
8 COSM3378350 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 7
9 COSM6930429 soft tissue,vagina,rhabdomyosarcoma,embryonal c.1291G>T p.E431* 12:49052392-49052392 7
10 COSM99616 soft tissue,vagina,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 7
11 COSM3732985 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 7
12 COSM99618 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 7
13 COSM3732987 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 7
14 COSM3732986 soft tissue,vagina,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 7
15 COSM99617 soft tissue,vagina,rhabdomyosarcoma,embryonal c.358C>T p.R120* 17:7674894-7674894 7
16 COSM1638393 soft tissue,vagina,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 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 10.81 ACTC1 DES
2 10.37 MYOD1 PAX3

GO Terms for Botryoid Rhabdomyosarcoma

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.96 MYOD1 PAX3
2 muscle filament sliding GO:0030049 8.62 ACTC1 DES

Sources for Botryoid Rhabdomyosarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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