MCID: RHB009
MIFTS: 34

Rhabdomyosarcoma 2, Alveolar malady

Genetic diseases, Rare diseases, Cancer diseases categories

Aliases & Classifications for Rhabdomyosarcoma 2, Alveolar

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 56SNOMED-CT, 39NCIt, 33MeSH, 26ICD10 via Orphanet, 62UMLS via Orphanet, 34MESH via Orphanet
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Aliases & Descriptions for Rhabdomyosarcoma 2, Alveolar:

Name: Rhabdomyosarcoma 2, Alveolar 46 9
Alveolar Rhabdomyosarcoma 8 42 10 48 61
Rhabdomyosarcoma Alveolar 42 44 22
Alveolar Childhood Rhabdomyosarcoma 8 61
 
Pediatric Alveolar Rhabdomyosarcoma 8
Rhabdomyosarcoma, Alveolar 46
Rhabdomyosarcoma 2 46
Arms 42


Classifications:

Orphanet: 48 
Rare tumors


External Ids:

OMIM46 268220
Disease Ontology8 DOID:4051
NCIt39 C3749
SNOMED-CT56 63449009, 404053004
Orphanet48 99756
ICD10 via Orphanet26 C49
UMLS via Orphanet62 C0206655
MESH via Orphanet34 D018232

Summaries for Rhabdomyosarcoma 2, Alveolar

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MalaCards based summary: Rhabdomyosarcoma 2, Alveolar, also known as alveolar rhabdomyosarcoma, is related to rhabdomyosarcoma and sarcoma, and has symptoms including autosomal recessive inheritanceand alveolar rhabdomyosarcoma. An important gene associated with Rhabdomyosarcoma 2, Alveolar is PAX3 (paired box 3), and among its related pathways are Neural Crest Differentiation and Transcriptional misregulation in cancer. The compounds oligonucleotide and cycloheximide have been mentioned in the context of this disorder. Related mouse phenotypes are tumorigenesis and craniofacial.

Description from OMIM:46 268220

Related Diseases for Rhabdomyosarcoma 2, Alveolar

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Graphical network of the top 20 diseases related to Rhabdomyosarcoma 2, Alveolar:



Diseases related to rhabdomyosarcoma 2, alveolar

Symptoms for Rhabdomyosarcoma 2, Alveolar

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Symptoms by clinical synopsis from OMIM:

268220

Clinical features from OMIM:

268220

HPO human phenotypes related to Rhabdomyosarcoma 2, Alveolar:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 alveolar rhabdomyosarcoma HP:0006779

Drugs & Therapeutics for Rhabdomyosarcoma 2, Alveolar

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Drug clinical trials:

Search ClinicalTrials for Rhabdomyosarcoma 2, Alveolar

Search NIH Clinical Center for Rhabdomyosarcoma 2, Alveolar

Genetic Tests for Rhabdomyosarcoma 2, Alveolar

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Genetic tests related to Rhabdomyosarcoma 2, Alveolar:

id Genetic test Affiliating Genes
1 Rhabdomyosarcoma Alveolar22

Anatomical Context for Rhabdomyosarcoma 2, Alveolar

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Animal Models for Rhabdomyosarcoma 2, Alveolar or affiliated genes

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MGI Mouse Phenotypes related to Rhabdomyosarcoma 2, Alveolar:

35 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8FOXO1, PAX3, PAX7
2MP:00053828.8PAX7, PAX3, FOXO1
3MP:00030128.7FOXO1, PAX3, PAX7
4MP:00053818.7PAX7, PAX3, FOXO1
5MP:00053698.7FOXO1, PAX3, PAX7
6MP:00053798.7FOXO1, PAX3, PAX7
7MP:00053908.7PAX7, PAX3, FOXO1
8MP:00053808.6FOXO1, PAX3, PAX7
9MP:00028738.6FOXO1, PAX3, PAX7
10MP:00053868.5PAX7, PAX3, FOXO1
11MP:00053788.5FOXO1, PAX3, PAX7
12MP:00053878.4FOXO1, PAX3, PAX7
13MP:00053848.2PAX7, PAX3, FOXO1

Publications for Rhabdomyosarcoma 2, Alveolar

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Variations for Rhabdomyosarcoma 2, Alveolar

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Expression for genes affiliated with Rhabdomyosarcoma 2, Alveolar

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Search GEO for disease gene expression data for Rhabdomyosarcoma 2, Alveolar.

Pathways for genes affiliated with Rhabdomyosarcoma 2, Alveolar

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Pathways related to Rhabdomyosarcoma 2, Alveolar according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0PAX3, PAX7
28.5FOXO1, PAX3, PAX7

Compounds for genes affiliated with Rhabdomyosarcoma 2, Alveolar

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Sources:
44Novoseek
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Compounds related to Rhabdomyosarcoma 2, Alveolar according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1oligonucleotide449.0PAX3, PAX7
2cycloheximide449.0FOXO1, PAX3

GO Terms for genes affiliated with Rhabdomyosarcoma 2, Alveolar

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Biological processes related to Rhabdomyosarcoma 2, Alveolar according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apoptotic processGO:00069159.3FOXO1, PAX3
2spinal cord association neuron differentiationGO:00215279.1PAX3, PAX7
3neuron fate commitmentGO:00486639.1PAX3, PAX7
4positive regulation of transcription, DNA-templatedGO:00458939.0FOXO1, PAX3
5negative regulation of apoptotic processGO:00430669.0FOXO1, PAX7
6positive regulation of transcription from RNA polymerase II promoterGO:00459448.5PAX7, PAX3, FOXO1

Molecular functions related to Rhabdomyosarcoma 2, Alveolar according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00036829.3FOXO1, PAX3
2sequence-specific DNA bindingGO:00435658.2FOXO1, PAX3, PAX7

Sources for Rhabdomyosarcoma 2, Alveolar

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet