ARMS
MCID: ALV004
MIFTS: 49

Alveolar Rhabdomyosarcoma (ARMS) malady

Rare diseases, Cancer diseases categories

Summaries for Alveolar Rhabdomyosarcoma

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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 sarcoma. An important gene associated with Alveolar Rhabdomyosarcoma is PAX3 (paired box 3), and among its related pathways are Neural Crest Differentiation and Transcriptional misregulation in cancer. Affiliated tissues include lung, bone and breast, and related mouse phenotypes are respiratory system and tumorigenesis.

Description from OMIM:48 268220

Aliases & Classifications for Alveolar Rhabdomyosarcoma

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 63UMLS, 23GTR, 46Novoseek, 48OMIM, 36MeSH, 41NCIt, 59SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

alveolar rhabdomyosarcoma 9 44 11 63
rhabdomyosarcoma alveolar 44 23 46
alveolar childhood rhabdomyosarcoma 9 63
pediatric alveolar rhabdomyosarcoma 9
rhabdomyosarcoma, alveolar 48
arms 44


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Disease Ontology9 DOID:4051
SNOMED-CT59 404053004, 63449009
NCIt41 C3749
OMIM48 268220

Related Diseases for Alveolar Rhabdomyosarcoma

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18GeneCards, 19GeneDecks
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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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma31.9PAX7, NOV, PAX3
2sarcoma30.8PAX7, PAX3, FGFR4
3embryonal rhabdomyosarcoma30.6PAX3, PAX7
4orbit alveolar rhabdomyosarcoma10.5
5leukemia10.4
6sinusitis10.4
7acute leukemia10.3
8cerebritis10.3
9pancreatitis10.3
10soft tissue sarcoma10.3
11beckwith-wiedemann syndrome10.2
12muscular atrophy10.2
13disseminated intravascular coagulation10.2
14mediastinitis10.2
15spinal muscular atrophy10.2
16desmoplastic small round cell tumor10.2
17rhabdomyosarcoma 2, alveolar10.2
18age related macular degeneration10.1
19neuronitis10.1
20mixed type rhabdomyosarcoma10.1
21duchenne muscular dystrophy10.1
22brachial plexus lesion10.1
23alveolar soft part sarcoma10.1
24nasopharyngitis10.1
25hypercalcemia10.1
26gliosarcoma10.1
27diphtheria10.1
28multinodular goiter10.1
29acute myeloid leukemia10.1
30graves' disease10.1
31breast cancer10.1
32cervicitis10.1
33ethmoid sinusitis10.1
34goiter10.1
35hydrocele10.1
36laryngitis10.1
37muscular dystrophy10.1
38myeloid leukemia10.1
39nephroblastoma10.1
40non-hodgkin lymphoma10.1
41osteosarcoma10.1
42pleomorphic rhabdomyosarcoma10.1
43synovial sarcoma10.1
44thrombocytopenia10.1
45thyroiditis10.1
46multiple endocrine neoplasia type 2a10.1
47multiple endocrine neoplasia10.1
48rhabdomyosarcoma of the corpus uteri10.1
49peripheral primitive neuroectodermal tumor10.0PAX3, PAX7
50melanoma10.0PAX3, FGFR4, PAX7

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



Diseases related to alveolar rhabdomyosarcoma

Symptoms for Alveolar Rhabdomyosarcoma

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48OMIM
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Clinical features from OMIM:

268220

Drugs & Therapeutics for Alveolar Rhabdomyosarcoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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23GTR
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Genetic tests related to Alveolar Rhabdomyosarcoma:

id Genetic test Affiliating Genes
1 Rhabdomyosarcoma Alveolar23

Anatomical Context for Alveolar Rhabdomyosarcoma

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34MalaCards
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MalaCards organs/tissues related to Alveolar Rhabdomyosarcoma:

34
Lung, Bone, Breast, Bone marrow, Cervix, Brain, Skin, Lymph node, Myeloid, Testes, Uterus, Ovary, Thyroid, Pancreas, Skeletal muscle, Heart, T cells

Animal Models for Alveolar Rhabdomyosarcoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Alveolar Rhabdomyosarcoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9PAX7, PAX3, CHRNG, FGFR4
2MP:00020068.7PMAIP1, PAX7, PAX3, FGFR4
3MP:00053828.6NOV, PAX3, PAX7
4MP:00053698.5PAX7, PAX3, CHRNG, NOV
5MP:00053868.3PAX7, PAX3, CHRNG, NOV
6MP:00053878.2NOV, PAX3, PAX7, PMAIP1
7MP:00053787.9FGFR4, NOV, CHRNG, PAX3, PAX7
8MP:00053847.8FGFR4, NOV, PAX3, PAX7, PMAIP1
9MP:00107687.5FGFR4, NOV, CHRNG, PAX3, PAX7, PMAIP1

Publications for Alveolar Rhabdomyosarcoma

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53PubMed
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Articles related to Alveolar Rhabdomyosarcoma:

(show top 50)    (show all 331)
idTitleAuthorsYear
1
Alveolar rhabdomyosarcoma of the tunica vaginalis presenting as a tender hydrocele. (24099115)
2013
2
Therapeutic cytodifferentiation in alveolar rhabdomyosarcoma without genetic change of the PAX3-FKHR chimeric fusion gene: a case study. (23797277)
2013
3
Severe acute rhabdomyolysis induced by multi-agent chemotherapy for alveolar rhabdomyosarcoma in a 15-year-old female: a case report. (24019778)
2013
4
Too much AKT turns PAX3-FKHR dead: a prospect of novel therapeutic strategy for alveolar rhabdomyosarcoma. (23165483)
2012
5
Primary alveolar rhabdomyosarcoma: a horrendous presentation with miraculous remission. (23230255)
2012
6
PAX3-FKHR regulates the expression of pleiotrophin to mediate motility in alveolar rhabdomyosarcoma cells. (24348888)
2012
7
Oral low-dose chemotherapy: successful treatment of an alveolar rhabdomyosarcoma during pregnancy. (22076833)
2012
8
Primary cutaneous alveolar rhabdomyosarcoma in a pediatric patient. (21603825)
2011
9
2D-difference gel electrophoretic proteomic analysis of a cell culture model of alveolar rhabdomyosarcoma. (21110518)
2011
10
Alveolar rhabdomyosarcoma originating from the uterine cervix. (21614913)
2011
11
Alveolar rhabdomyosarcoma of vulva. (20090257)
2010
12
IFN-beta restricts tumor growth and sensitizes alveolar rhabdomyosarcoma to ionizing radiation. (20197402)
2010
13
Solid variant of alveolar rhabdomyosarcoma in the head and neck region: a case report of a diagnostic dilemma in a head and neck fine needle aspiration clinic. (21053554)
2010
14
Metastatic alveolar rhabdomyosarcoma in multiple endocrine neoplasia type 2A. (20533522)
2010
15
Unusual leptomeningeal dissemination in a child with extracranial metastatic alveolar rhabdomyosarcoma. (19657999)
2009
16
Embryonal and alveolar rhabdomyosarcoma of parameningeal sites in adults: a report of 13 cases. (18945709)
2009
17
Alveolar rhabdomyosarcoma of the extremity and nodal metastasis: Is the in-transit lymphatic system at risk? (19711439)
2009
18
Pathology quiz case 2. Alveolar rhabdomyosarcoma. (18936365)
2008
19
Alveolar rhabdomyosarcoma of the paranasal sinuses. (20614299)
2008
20
Alveolar rhabdomyosarcoma of the left hand with bilateral breast metastases in an adolescent female. (19114329)
2008
21
Defining the cooperative genetic changes that temporally drive alveolar rhabdomyosarcoma. (19047133)
2008
22
Fine needle aspiration cytolog of perineal alveolar rhabdomyosarcoma: cytohistopathologic and immunocytochemical correlations. (17536540)
2007
23
Synchronous bifocal alveolar rhabdomyosarcoma: a case report. (16799004)
2006
24
Pediatric malignancies. Case 1. Hypermethylation in orbital alveolar rhabdomyosarcoma. (16034055)
2005
25
Poor outcome of two children with relapsed state stage IV alveolar rhabdomyosarcoma after allogeneic stem cell transplantation. (16251176)
2005
26
Lymphadenopathic form of alveolar rhabdomyosarcoma: A case report. (15185604)
2004
27
Genetic heterogeneity in the alveolar rhabdomyosarcoma subset without typical gene fusions. (12183429)
2002
28
Pilot trial of tumor-specific peptide vaccination and continuous infusion interleukin-2 in patients with recurrent Ewing sarcoma and alveolar rhabdomyosarcoma: an inter-institute NIH study. (11836714)
2002
29
PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group. (12039929)
2002
30
Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. (11826361)
2001
31
Temporary remission of an alveolar rhabdomyosarcoma diagnosed and treated as acute leukemia. (10674913)
2000
32
Metastatic alveolar rhabdomyosarcoma with increased serum creatine kinase MB and cardiac troponin T and normal cardiac troponin I. (10790783)
2000
33
Membrane-bound paracrystalloid structures in alveolar rhabdomyosarcoma. (11247391)
2000
34
Structural analysis of PAX7 rearrangements in alveolar rhabdomyosarcoma. (10700864)
2000
35
PAX3 and PAX7 exhibit conserved cis-acting transcription repression domains and utilize a common gain of function mechanism in alveolar rhabdomyosarcoma. (10439042)
1999
36
Alveolar rhabdomyosarcoma metastatic to the breast: long-term survivor. (10663335)
1999
37
Massive disseminated intravascular coagulation and hyperfibrinolysis in alveolar rhabdomyosarcoma: case report and review of the literature. (10466447)
1999
38
"Juvenile alveolar rhabdomyosarcoma of mandible". (23119581)
1999
39
Solid alveolar rhabdomyosarcoma of the thorax in a child. (9543674)
1998
40
Multiorgan uptake of Tc-99m MDP in a patient with stage 4 alveolar rhabdomyosarcoma. (9619331)
1998
41
Long-lasting complete remission after prolonged administration of etoposide in a child with a second recurrence of alveolar rhabdomyosarcoma. (8986152)
1997
42
Regulated expression of the diphtheria toxin A chain by a tumor-specific chimeric transcription factor results in selective toxicity for alveolar rhabdomyosarcoma cells. (9405676)
1997
43
The alveolar rhabdomyosarcoma PAX3/FKHR fusion protein is a transcriptional activator. (7630639)
1995
44
Structural characterization of the FKHR gene and its rearrangement in alveolar rhabdomyosarcoma. (8634710)
1995
45
Metabolism of 25-hydroxyvitamin D3 to 24,25-dihydroxyvitamin D3 by blood derived macrophages from a patient with alveolar rhabdomyosarcoma during short-term culture and 1 alpha,25-dihydroxyvitamin D3 after long-term culture. (2009222)
1991
46
Alveolar rhabdomyosarcoma--a case report. (3223793)
1988
47
Congenital alveolar rhabdomyosarcoma with multiple skin metastases. Report of a case. (3389151)
1988
48
Alveolar rhabdomyosarcoma of the greater omentum: a case report. (7444668)
1980
49
Alveolar rhabdomyosarcoma. (5040564)
1972
50
Alveolar rhabdomyosarcoma of the eyelid. Diagnosis by electron microscopy. (5032735)
1972

Variations for Alveolar Rhabdomyosarcoma

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Expression for genes affiliated with Alveolar Rhabdomyosarcoma

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

Search GEO for disease gene expression data for Alveolar Rhabdomyosarcoma.

Pathways for genes affiliated with Alveolar Rhabdomyosarcoma

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51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 54QIAGEN
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Pathways related to Alveolar Rhabdomyosarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7PAX3, PAX7
29.7PAX3, PAX7
3
Show member pathways
Delta-Notch Signaling Pathway39
Notch Signaling Pathway39
9.1NOV, HES6

Compounds for genes affiliated with Alveolar Rhabdomyosarcoma

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GO Terms for genes affiliated with Alveolar Rhabdomyosarcoma

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.0FGFR4, HES6, PAX3, PAX7, PMAIP1

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

idNameGO IDScoreTop Affiliating Genes
1neuron fate commitmentGO:0486639.7PAX3, PAX7
2spinal cord association neuron differentiationGO:0215279.4PAX3, PAX7

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037009.2HES6, PAX3, PAX7

Products for genes affiliated with Alveolar Rhabdomyosarcoma

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Sources for Alveolar 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