ARMS
MCID: ALV004
MIFTS: 51

Alveolar Rhabdomyosarcoma (ARMS) malady

Summaries for Alveolar Rhabdomyosarcoma

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Alveolar rhabdomyosarcoma is a type of rhabdomyosarcoma characterized by its appearance, which is... more...

MalaCards: Alveolar Rhabdomyosarcoma, also known as rhabdomyosarcoma alveolar, is related to rhabdomyosarcoma and embryonal rhabdomyosarcoma. An important gene associated with Alveolar Rhabdomyosarcoma is PAX3 (paired box 3). The compounds fatty acid and tyrosine have been mentioned in the context of this disorder. Affiliated tissues include lung, breast and bone, and related mouse phenotypes are muscle and behavior/neurological.

Description from OMIM:46 268220

Aliases & Classifications for Alveolar Rhabdomyosarcoma

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 22GTR, 44Novoseek, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

alveolar rhabdomyosarcoma 8 42 10 60
rhabdomyosarcoma alveolar 42 22 44
alveolar childhood rhabdomyosarcoma 8 60
pediatric alveolar rhabdomyosarcoma 8
rhabdomyosarcoma, alveolar 46
arms 42


External Ids:

Disease Ontology8 DOID:4051
NCIt39 C3749
SNOMED-CT56 404053004, 63449009
OMIM46 268220

Related Diseases for Alveolar Rhabdomyosarcoma

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17GeneCards, 18GeneDecks
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Diseases in the Alveolar Rhabdomyosarcoma family:

Rhabdomyosarcoma 2, Alveolar

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

(show top 50)    (show all 781)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma31.9PAX7, FOXO1, DES, MYOZ2, MYOG, NOV
2embryonal rhabdomyosarcoma31.0PAX7, PAX3, MYOG, DES
3sarcoma30.7FOXO1, DES, MYOG, FGFR4, PAX3, PAX7
4adenocarcinoma30.3XAGE1D
5melanoma30.3PAX7, PAX3, XAGE1D, FGFR4, DES
6rhabdomyosarcoma 2, alveolar30.3PAX7, PAX3
7nephroblastoma30.0NOV
8osteosarcoma30.0PAX3
9alveolar soft part sarcoma30.0MYOG, DES
10breast cancer30.0NOV, FGFR4, FOXO1
11prostate cancer29.9XAGE1D, FGFR4, FOXO1
12chondrosarcoma29.7DES
13peripheral primitive neuroectodermal tumor29.5DES, MYOG, XAGE1D, PAX3, PAX7
14myopathy29.5PAX7, MYOG, MYOZ2, DES
15orbit alveolar rhabdomyosarcoma10.6
16breast rhabdomyosarcoma10.6
17orbit rhabdomyosarcoma10.5
18leukemia10.4
19lymphedema10.3
20acute leukemia10.3
21cerebritis10.3
22pancreatitis10.3
23primary ciliary dyskinesia10.3
24lymphangiosarcoma10.3
25thoracic outlet syndrome10.2
26chromosomal disease10.2
27beckwith-wiedemann syndrome10.2
28muscular atrophy10.2
29small cell sarcoma10.2
30disseminated intravascular coagulation10.2
31mediastinitis10.2
32spinal muscular atrophy10.2
33hemiplegia10.2
34cri-du-chat syndrome10.2
35squamous cell carcinoma10.2
36complex regional pain syndrome10.1
37chromosome 5p duplication10.1
38syringomyelia10.1
39measles10.1
40chromosome 18p duplication10.1
41chromosome 9 inversion10.1
42essential tremor10.1
43facioscapulohumeral muscular dystrophy10.1
44hepatitis10.1
45colorectal cancer10.1
46wolf-hirschhorn syndrome10.1
47compartment syndrome10.1
48hypertension10.1
49lung cancer10.1
50neuroblastoma10.1

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



Diseases related to alveolar rhabdomyosarcoma

Clinical Features for Alveolar Rhabdomyosarcoma

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46OMIM
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Clinical features from OMIM:

268220

Drugs & Therapeutics for Alveolar Rhabdomyosarcoma

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Alveolar Rhabdomyosarcoma

Drug clinical trials:

Search ClinicalTrials for Alveolar Rhabdomyosarcoma

Search NIH Clinical Center for Alveolar Rhabdomyosarcoma

Search CenterWatch for Alveolar Rhabdomyosarcoma

Genetic Tests for Alveolar Rhabdomyosarcoma

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22GTR
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Genetic tests related to Alveolar Rhabdomyosarcoma:

id Genetic test Affiliating Genes
1 Rhabdomyosarcoma Alveolar22

Anatomical Context for Alveolar Rhabdomyosarcoma

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32MalaCards
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MalaCards organs/tissues related to Alveolar Rhabdomyosarcoma:

32
Lung, Breast, Bone, Bone marrow, Cervix, Brain, Skin, Testes, Lymph node, Heart, Myeloid, Uterus, Ovary, Thyroid, Pancreas, Skeletal muscle, Endothelial, T cells

Animal Models for Alveolar Rhabdomyosarcoma or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alveolar Rhabdomyosarcoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.7PAX7, PAX3, MYOZ2, CHRNG, FOXO1
2MP:00053869.6DES, CHRNG, MYOG, NOV, PAX3, PAX7

Publications for Alveolar Rhabdomyosarcoma

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50PubMed
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Articles related to Alveolar Rhabdomyosarcoma:

(show top 50)    (show all 359)
idTitleAuthorsYear
1
Alveolar rhabdomyosarcoma of the tunica vaginalis presenting as a tender hydrocele. (24099115)
2013
2
Severe acute rhabdomyolysis induced by multi-agent chemotherapy for alveolar rhabdomyosarcoma in a 15-year-old female: a case report. (24019778)
2013
3
Alveolar rhabdomyosarcoma-associated proteins PAX3/FOXO1A and PAX7/FOXO1A suppress the transcriptional activity of MyoD-target genes in muscle stem cells. (22710712)
2013
4
Protein kinase C iota as a therapeutic target in alveolar rhabdomyosarcoma. (22349825)
2013
5
Alveolar rhabdomyosarcoma in a juvenile labrador retriever: case report and literature review. (22058352)
2011
6
Alveolar rhabdomyosarcoma with neuroendocrine differentiation detected by Ga-68 DOTA-NOC PET/CT: a case report. (21892046)
2011
7
Solid alveolar rhabdomyosarcoma with spindle-shaped cells and epithelial differentiation of the mediastinum in a 68-year-old man: a case report and literature review. (22044824)
2011
8
Alveolar rhabdomyosarcoma of vulva. (20090257)
2010
9
Metastatic alveolar rhabdomyosarcoma in multiple endocrine neoplasia type 2A. (20533522)
2010
10
Embryonal and alveolar rhabdomyosarcoma of parameningeal sites in adults: a report of 13 cases. (18945709)
2009
11
EUS diagnosis of a primary pancreatic metastasis of alveolar rhabdomyosarcoma. (19890194)
2009
12
Heparanase activity in alveolar and embryonal rhabdomyosarcoma: implications for tumor invasion. (19715595)
2009
13
The utility of FOXO1 fluorescence in situ hybridization (FISH) in formalin-fixed paraffin-embedded specimens in the diagnosis of alveolar rhabdomyosarcoma. (19704258)
2009
14
Different telomere maintenance mechanisms in alveolar and embryonal rhabdomyosarcoma. (18663749)
2008
15
Alveolar rhabdomyosarcoma of the uterine cervix. A case report confirmed by FKHR break-apart rearrangement using a fluorescence in situ hybridization probe on paraffin-embedded tissues. (18580325)
2008
16
Detection of FOXO1 (FKHR) gene break-apart by fluorescence in situ hybridization in formalin-fixed, paraffin-embedded alveolar rhabdomyosarcomas and its clinicopathologic correlation. (18303411)
2008
17
Metastatic intratesticular alveolar rhabdomyosarcoma discovered after induction of systemic chemotherapy. (17482950)
2007
18
Aberrant diffuse expression of synaptophysin in a sinonasal alveolar rhabdomyosarcoma. (17454764)
2007
19
Pathology teach and tell: solid variant alveolar rhabdomyosarcoma of the orbit. (16754488)
2006
20
Novel genes implicated in embryonal, alveolar, and pleomorphic rhabdomyosarcoma: a cytogenetic and molecular analysis of primary tumors. (16790082)
2006
21
Different pattern of matrix metalloproteinases expression in alveolar versus embryonal rhabdomyosarcoma. (15547833)
2004
22
The truth about alveolar rhabdomyosarcoma. (12913851)
2003
23
Primary cutaneous alveolar rhabdomyosarcoma of the perineum. (12171502)
2002
24
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. (11826361)
2001
25
Gene fusions involving PAX and FOX family members in alveolar rhabdomyosarcoma. (11607823)
2001
26
Molecular cytogenetic analysis consistently identifies translocations involving chromosomes 1, 2 and 15 in five embryonal rhabdomyosarcoma cell lines and a PAX-FOXO1A fusion gene negative alveolar rhabdomyosarcoma cell line. (12063389)
2001
27
Membrane-bound paracrystalloid structures in alveolar rhabdomyosarcoma. (11247391)
2000
28
PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma. (10439042)
1999
29
Alveolar rhabdomyosarcoma metastatic to the breast: long-term survivor. (10663335)
1999
30
"Juvenile alveolar rhabdomyosarcoma of mandible". (23119581)
1999
31
Evidence of genetic alterations in chromosome 11 in embryonal and alveolar rhabdomyosarcoma]. (10095436)
1998
32
Up-regulation of MET but not neural cell adhesion molecule expression by the PAX3-FKHR fusion protein in alveolar rhabdomyosarcoma. (9721857)
1998
33
Alveolar rhabdomyosarcoma presenting as leukemia. (9482423)
1998
34
Cerebral metastases of alveolar rhabdomyosarcoma in an infant with multiple skin nodules. (9329472)
1997
35
Pure alveolar rhabdomyosarcoma of the corpus uteri: description of a case with increased serum level of CA-125. (9264583)
1997
36
Amplification of the t(2; 13) and t(1; 13) translocations of alveolar rhabdomyosarcoma in small formalin-fixed biopsies using a modified reverse transcriptase polymerase chain reaction. (9033264)
1997
37
In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma. (8789435)
1996
38
Severe anaemia as first sign of metastatic alveolar rhabdomyosarcoma. (8698122)
1996
39
The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3. (7862145)
1995
40
Alveolar rhabdomyosarcoma with the t(2;13): cytogenetic findings and clinicopathologic correlations. (8433683)
1993
41
Bovine undifferentiated alveolar rhabdomyosarcoma and its differentiation in xenotransplanted tumors. (1750169)
1991
42
A case of alveolar rhabdomyosarcoma with a chromosomal translocation, t(2;13)(q37;q14). (2122583)
1990
43
Translocation (2;13)(q37;q14) in alveolar rhabdomyosarcoma: a new case. (3470125)
1987
44
Consistent chromosomal translocation in alveolar rhabdomyosarcoma. (3943053)
1986
45
Congenital orbital alveolar rhabdomyosarcoma. (6579973)
1983
46
Alveolar rhabdomyosarcoma. Demonstration of the muscle type of intermediate filament protein, desmin, as a diagnostic aid. (6765734)
1982
47
Ultrastructural observations on the histogenesis of alveolar rhabdomyosarcoma. (565250)
1978
48
Bone marrow metastases in disseminated alveolar rhabdomyosarcoma: case report with ultrastructural study and review. (1018951)
1976
49
Alveolar rhabdomyosarcoma. (5040564)
1972
50
Alveolar rhabdomyosarcoma. An analysis of 110 cases. (5790286)
1969

Genetic Variations for Alveolar Rhabdomyosarcoma

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Expression for genes affiliated with Alveolar Rhabdomyosarcoma

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alveolar Rhabdomyosarcoma

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Pathways for genes affiliated with Alveolar Rhabdomyosarcoma

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Compounds for genes affiliated with Alveolar Rhabdomyosarcoma

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44Novoseek
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Compounds related to Alveolar Rhabdomyosarcoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fatty acid4410.0ALPI, MYOG, DES, FOXO1
2tyrosine449.4ESD, FOXO1, DES, MYOZ2, MYOG, FGFR4

GO Terms for genes affiliated with Alveolar Rhabdomyosarcoma

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16Gene Ontology
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Biological processes related to Alveolar Rhabdomyosarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuron fate commitmentGO:04866310.3PAX7, PAX3
2spinal cord association neuron differentiationGO:02152710.0PAX7, PAX3

Products for genes affiliated with Alveolar Rhabdomyosarcoma

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Sources for Alveolar Rhabdomyosarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet