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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   alveolar soft part sarcoma
  

Disease ID 1628
Disease alveolar soft part sarcoma
Definition
A variety of rare sarcoma having a reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. It is a rare tumor, usually occurring between 15 and 35 years of age. It appears in the muscles of the extremities in adults and most commonly in the head and neck regions of children. Though slow-growing, it commonly metastasizes to the lungs, brain, bones, and lymph nodes. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1365)
Synonym
[m]alveolar soft part sarcoma
alveolar soft part sarcoma (disorder)
alveolar soft part sarcoma (morphologic abnormality)
alveolar soft tissue sarcoma
alveolar soft tissue sarcoma (morphologic abnormality)
alveolar soft-part sarcoma
sarcoma, alveolar soft part
sarcoma, alveolar soft part [disease/finding]
Orphanet
OMIM
DOID
UMLS
C0206657
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:2)
C0220650  |  brain metastases  |  1
C0494165  |  liver metastasis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
79058  |  ASPSCR1  |  CTD_human;ORPHANET;UNIPROT
7030  |  TFE3  |  ORPHANET;UNIPROT
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:40)
8754  |  ADAM9  |  2.507  |  DISEASES
23452  |  ANGPTL2  |  2.802  |  DISEASES
55107  |  ANO1  |  1.093  |  DISEASES
682  |  BSG  |  1.541  |  DISEASES
9332  |  CD163  |  1.466  |  DISEASES
4267  |  CD99  |  1.044  |  DISEASES
283971  |  CLEC18C  |  3.022  |  DISEASES
64764  |  CREB3L2  |  2.755  |  DISEASES
1497  |  CTNS  |  1.501  |  DISEASES
1586  |  CYP17A1  |  1.425  |  DISEASES
1893  |  ECM1  |  1.545  |  DISEASES
1999  |  ELF3  |  1.743  |  DISEASES
2027  |  ENO3  |  1.85  |  DISEASES
2130  |  EWSR1  |  1.263  |  DISEASES
10457  |  GPNMB  |  1.591  |  DISEASES
4151  |  MB  |  4.221  |  DISEASES
4192  |  MDK  |  2.534  |  DISEASES
2315  |  MLANA  |  2.306  |  DISEASES
4311  |  MME  |  2.117  |  DISEASES
2516  |  NR5A1  |  1.009  |  DISEASES
93034  |  NT5C1B  |  2.259  |  DISEASES
7849  |  PAX8  |  1.615  |  DISEASES
5725  |  PTBP1  |  1.565  |  DISEASES
58155  |  PTBP2  |  2.127  |  DISEASES
5788  |  PTPRC  |  1.151  |  DISEASES
7905  |  REEP5  |  1.329  |  DISEASES
5979  |  RET  |  1.285  |  DISEASES
6421  |  SFPQ  |  3.284  |  DISEASES
6566  |  SLC16A1  |  2.43  |  DISEASES
23583  |  SMUG1  |  1.275  |  DISEASES
6760  |  SS18  |  1.749  |  DISEASES
6756  |  SSX1  |  1.417  |  DISEASES
727837  |  SSX2B  |  1.114  |  DISEASES
4943  |  TBC1D25  |  2.74  |  DISEASES
51643  |  TMBIM4  |  1.875  |  DISEASES
84676  |  TRIM63  |  2.404  |  DISEASES
7316  |  UBC  |  1.23  |  DISEASES
7378  |  UPP1  |  2.272  |  DISEASES
7422  |  VEGFA  |  1.011  |  DISEASES
7490  |  WT1  |  1.33  |  DISEASES
Locus(Waiting for update.)
Disease ID 1628
Disease alveolar soft part sarcoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1628
Disease alveolar soft part sarcoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:3)
C0555278  |  cerebral metastases
C0432412  |  trisomy 8
C0153676  |  pulmonary metastasis
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1628
Disease alveolar soft part sarcoma
Case(Waiting for update.)