MCID: BTR001
MIFTS: 46

Botryoid Rhabdomyosarcoma malady

Rare diseases, Cancer diseases categories

Summaries for Botryoid Rhabdomyosarcoma

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66Wikipedia, 34MalaCards
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Wikipedia:66 Sarcoma botryoides or botryoid sarcoma or botryoid rhabdomyosarcoma is a subtype of embryonal... more...

MalaCards: Botryoid Rhabdomyosarcoma, also known as sarcoma botryoides, is related to rhabdomyosarcoma and embryonal rhabdomyosarcoma. An important gene associated with Botryoid Rhabdomyosarcoma is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. The compounds orcein and s 100 have been mentioned in the context of this disorder. Affiliated tissues include uterus, cervix and prostate, and related mouse phenotypes are cardiovascular system and normal.

Aliases & Classifications for Botryoid Rhabdomyosarcoma

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 63UMLS, 59SNOMED-CT, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases


Aliases & Descriptions:

botryoid rhabdomyosarcoma 9 63
sarcoma botryoides 9 44
botryoid sarcoma 9 63
botryoid-type embryonal rhabdomyosarcoma 9


External Ids:

Disease Ontology9 DOID:3255
NCIt41 C9150

Related Diseases for Botryoid Rhabdomyosarcoma

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Botryoid Rhabdomyosarcoma family:

Adult Botryoid Rhabdomyosarcoma

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

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma31.2DES, MYOG, MYOD1, ACTC1, WT1
2embryonal rhabdomyosarcoma30.3DES, MYOD1, MYOG, ACTC1, WT1
3wilms tumor30.1WT1, ACTC1, MYOG, MYOD1, DES
4sarcoma30.1ACTC1, MYOG, WT1, DES, MYOD1
5cervicitis10.4
6adult botryoid rhabdomyosarcoma10.3
7adult vagina botryoid rhabdomyosarcoma10.3
8childhood botryoid rhabdomyosarcoma10.3
9childhood vagina botryoid rhabdomyosarcoma10.3
10vagina botryoid rhabdomyosarcoma10.3
11sertoli-leydig cell tumor10.3
12leydig cell tumor10.3
13choledochal cyst10.2
14gallbladder sarcoma10.2
15laryngitis10.2
16pleomorphic rhabdomyosarcoma10.2
17primitive neuroectodermal tumor10.2
18prostatitis10.2
19vulvar childhood botryoid-type embryonal rhabdomyosarcoma10.2
20bladder sarcoma10.2
21nephroblastoma10.2
22vagina sarcoma10.2
23vaginitis10.2
24alveolar soft part sarcoma10.1MYOD1
25fasciitis10.1ACTC1
26infantile myofibromatosis10.1DES
27metanephric adenoma10.1WT1
28malignant mesenchymoma10.1MYOD1, MYOG
29adenomatoid tumor10.1WT1
30myotonic dystrophy10.0MYOG, MYOD1
31adenosarcoma10.0ACTC1, DES
32epithelioid leiomyosarcoma10.0ACTC1, DES
33spindle cell carcinoma10.0ACTC1, DES
34myopathy congenital10.0MYOG, DES
35spindle cell sarcoma10.0DES, ACTC1
36angiosarcoma10.0ACTC1, KRT18
37desmoid tumor10.0DES, ACTC1
38cutaneous fibrous histiocytoma10.0DES, ACTC1
39fibrous histiocytoma10.0ACTC1, DES
40dermatofibrosarcoma protuberans10.0ACTC1, DES
41endometrial stromal sarcoma10.0DES, ACTC1
42duchenne muscular dystrophy10.0DES, MYOD1
43hemangiopericytoma10.0ACTC1, DES
44angiomyolipoma10.0ACTC1, DES
45fibroma10.0ACTC1, DES
46glomus tumor10.0ACTC1, DES
47uterine fibroid10.0MYOG, DES
48malignant mixed mullerian tumor10.0DES, ACTC1
49fibromatosis10.0DES, ACTC1
50chordoma10.0DES, KRT18

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



Diseases related to botryoid rhabdomyosarcoma

Symptoms for Botryoid Rhabdomyosarcoma

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Drugs & Therapeutics for Botryoid Rhabdomyosarcoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Botryoid Rhabdomyosarcoma

Drug clinical trials:

Search ClinicalTrials for Botryoid Rhabdomyosarcoma

Search NIH Clinical Center for Botryoid Rhabdomyosarcoma

Search CenterWatch for Botryoid Rhabdomyosarcoma

Genetic Tests for Botryoid Rhabdomyosarcoma

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Anatomical Context for Botryoid Rhabdomyosarcoma

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34MalaCards
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MalaCards organs/tissues related to Botryoid Rhabdomyosarcoma:

34
Uterus, Cervix, Prostate

Animal Models for Botryoid Rhabdomyosarcoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Botryoid Rhabdomyosarcoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3WT1, ACTC1, MYOD1, DES
2MP:00028737.9MYOD1, MYOG, ACTC1, WT1
3MP:00053697.9WT1, ACTC1, MYOG, MYOD1, DES
4MP:00053767.6WT1, ACTC1, MYOG, MYOD1, DES
5MP:00053787.6MYOD1, MYOG, ACTC1, KRT18, WT1
6MP:00107687.2DES, MYOD1, MYOG, ACTC1, KRT18, WT1

Publications for Botryoid Rhabdomyosarcoma

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53PubMed
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Articles related to Botryoid Rhabdomyosarcoma:

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

Variations for Botryoid Rhabdomyosarcoma

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Expression for genes affiliated with Botryoid Rhabdomyosarcoma

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Botryoid Rhabdomyosarcoma

Search GEO for disease gene expression data for Botryoid Rhabdomyosarcoma.

Pathways for genes affiliated with Botryoid Rhabdomyosarcoma

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters, 13EMD Millipore, 5Cell Signaling Technology
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Pathways related to Botryoid Rhabdomyosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.6ACTC1, DES
2
Show member pathways
9.6DES, ACTC1
3
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion61
Pathogenic Escherichia coli infection39
9.4KRT18, ACTC1
4
Show member pathways
9.1MYOG, MYOD1
5
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis61
9.1MYOG, MYOD1
69.1MYOG, MYOD1
79.0KRT18, ACTC1, DES

Compounds for genes affiliated with Botryoid Rhabdomyosarcoma

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB, 3BitterDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Botryoid Rhabdomyosarcoma according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1orcein4610.0ACTC1, DES
2s 1004610.0ACTC1, DES
3reticulin4610.0ACTC1, DES
4mucicarmine4610.0ACTC1, DES
5procollagen469.9DES, ACTC1
6nash469.8ACTC1, KRT18
7biotin46 25 1211.8ACTC1, DES
8tetracycline46 1210.6WT1, KRT18
9b 723469.5DES, ACTC1, WT1
10imatinib46 52 1211.5WT1, ACTC1, DES
11p002469.5DES, KRT18
12hematoxylin469.4KRT18, ACTC1, DES
13azathioprine46 3 52 1212.4DES, MYOD1
14formaldehyde46 2510.4DES, ACTC1, KRT18
15ribonucleic acid469.4WT1, ACTC1, MYOG
16glycogen46 2510.3DES, ACTC1, KRT18
17gold469.3DES, KRT18
18iron46 2510.3KRT18, ACTC1, DES
19lactacystin469.3MYOD1, KRT18
20doxorubicin46 52 1211.2WT1, KRT18, DES
21thymidine46 2510.1WT1, KRT18, DES
22forskolin46 52 1211.1MYOG, KRT18, WT1
23mg 13246 6210.0KRT18, MYOD1
24acetylcholine46 52 30 25 1213.0MYOG, MYOD1, DES
25lysine469.0DES, MYOD1, WT1
26actinomycin d468.9KRT18, MYOD1, DES
27progesterone46 30 62 25 1212.9DES, ACTC1, KRT18, WT1
28arginine468.8DES, MYOD1, WT1
29citrate468.7KRT18, MYOD1
30nitric oxide46 25 1210.7DES, MYOG, KRT18, WT1
31zinc46 259.6WT1, KRT18, MYOD1
3212-o-tetradecanoylphorbol 13-acetate468.6WT1, MYOG, MYOD1, DES
33cysteine468.5DES, MYOD1, MYOG, WT1
34bromodeoxyuridine468.5DES, MYOD1, MYOG, KRT18
35fatty acid468.5DES, MYOD1, MYOG, KRT18
36threonine468.4DES, MYOD1, KRT18, WT1
37butyrate468.4MYOD1, MYOG, KRT18, WT1
38oligonucleotide468.4WT1, KRT18, MYOG, MYOD1
39calcium46 52 25 1211.3ACTC1, MYOG, MYOD1, DES
40oxygen46 259.1DES, MYOD1, MYOG, ACTC1, KRT18
41glucose468.1DES, MYOD1, MYOG, ACTC1, KRT18
42serine467.9DES, MYOD1, MYOG, KRT18, WT1
43paraffin467.6WT1, KRT18, ACTC1, MYOG, MYOD1, DES
44creatinine467.6DES, MYOD1, MYOG, ACTC1, KRT18, WT1
45testosterone46 62 25 1210.6DES, MYOD1, MYOG, ACTC1, KRT18, WT1
46steroid467.6DES, MYOD1, MYOG, ACTC1, KRT18, WT1
47vegf467.6DES, MYOD1, MYOG, ACTC1, KRT18, WT1
48estrogen467.6DES, MYOD1, MYOG, ACTC1, KRT18, WT1
49retinoic acid46 258.6DES, MYOD1, MYOG, ACTC1, KRT18, WT1
50tyrosine467.6WT1, KRT18, ACTC1, MYOG, MYOD1, DES

GO Terms for genes affiliated with Botryoid Rhabdomyosarcoma

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17Gene Ontology
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Cellular components related to Botryoid Rhabdomyosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.4KRT18, DES

Biological processes related to Botryoid Rhabdomyosarcoma according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.6DES, ACTC1
2muscle cell fate commitmentGO:0426939.3MYOG, MYOD1
3skeletal muscle fiber developmentGO:0487419.3MYOG, MYOD1
4cellular response to estradiol stimulusGO:0713929.3MYOD1, MYOG
5positive regulation of muscle cell differentiationGO:0511499.2MYOG, MYOD1
6muscle cell differentiationGO:0426929.2MYOG, MYOD1
7skeletal muscle tissue developmentGO:0075199.0MYOG, MYOD1
8negative regulation of apoptotic processGO:0430668.6WT1, KRT18, ACTC1
9positive regulation of transcription from RNA polymerase II promoterGO:0459448.6WT1, MYOG, MYOD1

Molecular functions related to Botryoid Rhabdomyosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1core promoter bindingGO:0010479.1MYOG, MYOD1
2chromatin DNA bindingGO:0314909.0MYOG, MYOD1
3E-box bindingGO:0708888.8MYOG, MYOD1

Products for genes affiliated with Botryoid Rhabdomyosarcoma

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  • Antibodies
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Sources for Botryoid Rhabdomyosarcoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet