MCID: RHB009
MIFTS: 34

Rhabdomyosarcoma 2, Alveolar malady

Genetic diseases, Rare diseases, Cancer diseases categories

Aliases & Classifications for Rhabdomyosarcoma 2, Alveolar

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Rhabdomyosarcoma 2, Alveolar, Aliases & Descriptions:

Name: Rhabdomyosarcoma 2, Alveolar 45 10
Alveolar Rhabdomyosarcoma 9 41 11 47 60
Rhabdomyosarcoma Alveolar 41 43 22
Alveolar Childhood Rhabdomyosarcoma 9 60
 
Pediatric Alveolar Rhabdomyosarcoma 9
Rhabdomyosarcoma, Alveolar 45
Rhabdomyosarcoma 2 45
Arms 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Orphanet: 47 
Rare tumors


External Ids:

OMIM45 268220
Disease Ontology9 DOID:4051
NCIt38 C3749
SNOMED-CT55 63449009, 404053004
Orphanet47 99756
ICD10 via Orphanet26 C49
UMLS via Orphanet61 C0206655
MESH via Orphanet34 D018232

Summaries for Rhabdomyosarcoma 2, Alveolar

About this section


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:45 268220

Related Diseases for Rhabdomyosarcoma 2, Alveolar

About this section

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



Diseases related to rhabdomyosarcoma 2, alveolar

Symptoms for Rhabdomyosarcoma 2, Alveolar

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Rhabdomyosarcoma 2, Alveolar

Search NIH Clinical Center for Rhabdomyosarcoma 2, Alveolar

Genetic Tests for Rhabdomyosarcoma 2, Alveolar

About this section

Genetic tests related to Rhabdomyosarcoma 2, Alveolar:

id Genetic test Affiliating Genes
1 Rhabdomyosarcoma Alveolar22

Anatomical Context for Rhabdomyosarcoma 2, Alveolar

About this section

Animal Models for Rhabdomyosarcoma 2, Alveolar or affiliated genes

About this section

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

About this section

Variations for Rhabdomyosarcoma 2, Alveolar

About this section

Expression for genes affiliated with Rhabdomyosarcoma 2, Alveolar

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

Pathways for genes affiliated with Rhabdomyosarcoma 2, Alveolar

About this section

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

About this section
Sources:
43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1oligonucleotide439.0PAX3, PAX7
2cycloheximide439.0FOXO1, PAX3

GO Terms for genes affiliated with Rhabdomyosarcoma 2, Alveolar

About this section

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

Products for genes affiliated with Rhabdomyosarcoma 2, Alveolar

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Rhabdomyosarcoma 2, Alveolar

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet