Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   sarcoma, synovial
  

Disease ID 1650
Disease sarcoma, synovial
Definition
A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)
Synonym
[m]synovial sarcoma nos
[m]synovioma nos
malignant synovioma
sarcoma synovial
sarcoma, synovial [disease/finding]
sarcoma, synovial, malignant
sarcomas, synovial
ss
synovial sarcoma
synovial sarcoma (disorder)
synovial sarcoma (morphologic abnormality)
synovial sarcoma, nos
synovial sarcoma, not otherwise specified
synovial sarcomas
synovioma
synovioma, malignant
synovioma, nos
synoviomas
Orphanet
OMIM
DOID
UMLS
C0039101
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:19)
C1261473  |  sarcoma  |  3
C1261473  |  sarcomas  |  3
C0220650  |  brain metastasis  |  2
C0751690  |  malignant peripheral nerve sheath tumor  |  1
C0206093  |  primitive neuroectodermal tumor  |  1
C0879615  |  stromal tumor  |  1
C0034065  |  pulmonary embolism  |  1
C0024299  |  lymphoma  |  1
C0032326  |  pneumothorax  |  1
C0018922  |  hemangiopericytoma  |  1
C0023269  |  leiomyosarcomas  |  1
C1261473  |  soft tissue sarcoma  |  1
C1261473  |  soft tissue sarcomas  |  1
C0856761  |  budd-chiari syndrome  |  1
C0018099  |  gout  |  1
C0024301  |  follicular lymphoma  |  1
C0022354  |  obstructive jaundice  |  1
C0023827  |  liposarcoma  |  1
C0206093  |  neuroectodermal tumors  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
596  |  BCL2  |  CTD_human
7431  |  VIM  |  CTD_human
6757  |  SSX2  |  CTD_human;ORPHANET
6756  |  SSX1  |  CTD_human;ORPHANET
6760  |  SS18  |  CTD_human;ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:102)
238  |  ALK  |  1.763  |  DISEASES
55107  |  ANO1  |  3.089  |  DISEASES
369  |  ARAF  |  2.843  |  DISEASES
85316  |  BAGE5  |  1.989  |  DISEASES
54880  |  BCOR  |  2.795  |  DISEASES
648  |  BMI1  |  1.687  |  DISEASES
56244  |  BTNL2  |  1.046  |  DISEASES
800  |  CALD1  |  1.552  |  DISEASES
29126  |  CD274  |  1.327  |  DISEASES
4267  |  CD99  |  4.063  |  DISEASES
157313  |  CDCA2  |  1.974  |  DISEASES
1029  |  CDKN2A  |  1.41  |  DISEASES
1364  |  CLDN4  |  1.184  |  DISEASES
283971  |  CLEC18C  |  2.124  |  DISEASES
90993  |  CREB3L1  |  1.461  |  DISEASES
64764  |  CREB3L2  |  4.387  |  DISEASES
1485  |  CTAG1B  |  3.62  |  DISEASES
1499  |  CTNNB1  |  3.037  |  DISEASES
26052  |  DNM3  |  1.551  |  DISEASES
100288687  |  DUX4  |  2.241  |  DISEASES
653545  |  DUX4L5  |  2.241  |  DISEASES
1978  |  EIF4EBP1  |  1.155  |  DISEASES
1999  |  ELF3  |  2.737  |  DISEASES
2114  |  ETS2  |  1.308  |  DISEASES
2115  |  ETV1  |  1.569  |  DISEASES
2118  |  ETV4  |  1.331  |  DISEASES
2120  |  ETV6  |  1.943  |  DISEASES
2130  |  EWSR1  |  4.792  |  DISEASES
2314  |  FLII  |  1.669  |  DISEASES
221937  |  FOXK1  |  1.844  |  DISEASES
2300  |  FOXL1  |  1.387  |  DISEASES
2308  |  FOXO1  |  2.776  |  DISEASES
53827  |  FXYD5  |  1.369  |  DISEASES
2591  |  GALNT3  |  1.616  |  DISEASES
10672  |  GNA13  |  1.525  |  DISEASES
3039  |  HBA1  |  1.747  |  DISEASES
3052  |  HCCS  |  1.721  |  DISEASES
8091  |  HMGA2  |  2.068  |  DISEASES
3481  |  IGF2  |  1.557  |  DISEASES
80333  |  KCNIP4  |  1.612  |  DISEASES
56660  |  KCNK12  |  2.224  |  DISEASES
9928  |  KIF14  |  1.361  |  DISEASES
257240  |  KLHL34  |  3.07  |  DISEASES
3880  |  KRT19  |  2.146  |  DISEASES
3850  |  KRT3  |  1.027  |  DISEASES
3855  |  KRT7  |  3.839  |  DISEASES
4100  |  MAGEA1  |  1.678  |  DISEASES
728239  |  MAGED4  |  1.407  |  DISEASES
55534  |  MAML3  |  1.925  |  DISEASES
4151  |  MB  |  1.855  |  DISEASES
4193  |  MDM2  |  1.864  |  DISEASES
2315  |  MLANA  |  1.385  |  DISEASES
4311  |  MME  |  1.555  |  DISEASES
4585  |  MUC4  |  1.006  |  DISEASES
139221  |  MUM1L1  |  3.544  |  DISEASES
4609  |  MYC  |  1.092  |  DISEASES
23054  |  NCOA6  |  1.489  |  DISEASES
10763  |  NES  |  1.311  |  DISEASES
4916  |  NTRK3  |  1.93  |  DISEASES
4942  |  OAT  |  2.321  |  DISEASES
126014  |  OSCAR  |  2.249  |  DISEASES
5077  |  PAX3  |  3.19  |  DISEASES
5081  |  PAX7  |  2.795  |  DISEASES
7849  |  PAX8  |  1.291  |  DISEASES
5155  |  PDGFB  |  1.575  |  DISEASES
5241  |  PGR  |  1.559  |  DISEASES
23532  |  PRAME  |  2.784  |  DISEASES
8842  |  PROM1  |  1.284  |  DISEASES
5728  |  PTEN  |  1.202  |  DISEASES
5788  |  PTPRC  |  1.487  |  DISEASES
117177  |  RAB3IP  |  2.097  |  DISEASES
64926  |  RASAL3  |  3.258  |  DISEASES
11186  |  RASSF1  |  1.495  |  DISEASES
9185  |  REPS2  |  2.1  |  DISEASES
6297  |  SALL2  |  2.548  |  DISEASES
54938  |  SARS2  |  2.049  |  DISEASES
9805  |  SCRN1  |  1.983  |  DISEASES
6597  |  SMARCA4  |  2.471  |  DISEASES
23583  |  SMUG1  |  2.282  |  DISEASES
6663  |  SOX10  |  2.925  |  DISEASES
6657  |  SOX2  |  1.792  |  DISEASES
11166  |  SOX21  |  2.096  |  DISEASES
6660  |  SOX5  |  1.023  |  DISEASES
55553  |  SOX6  |  1.045  |  DISEASES
6760  |  SS18  |  7.357  |  DISEASES
26039  |  SS18L1  |  4.623  |  DISEASES
6756  |  SSX1  |  7.708  |  DISEASES
727837  |  SSX2B  |  8.104  |  DISEASES
117178  |  SSX2IP  |  3.734  |  DISEASES
6759  |  SSX4  |  5.756  |  DISEASES
548313  |  SSX4B  |  5.763  |  DISEASES
6847  |  SYCP1  |  1.869  |  DISEASES
4943  |  TBC1D25  |  4.933  |  DISEASES
7088  |  TLE1  |  5.962  |  DISEASES
127262  |  TPRG1L  |  1.32  |  DISEASES
7247  |  TSN  |  1.999  |  DISEASES
7317  |  UBA1  |  2.214  |  DISEASES
7321  |  UBE2D1  |  2.031  |  DISEASES
7422  |  VEGFA  |  1.18  |  DISEASES
7490  |  WT1  |  3.828  |  DISEASES
81030  |  ZBP1  |  1.031  |  DISEASES
347344  |  ZNF81  |  3.132  |  DISEASES
Locus(Waiting for update.)
Disease ID 1650
Disease sarcoma, synovial
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:1)
HP:0012570  |  Synovial sarcoma
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:18)
HP:0002664  |  Neoplasia  |  6
HP:0100242  |  Sarcoma  |  3
HP:0002835  |  Aspiration  |  2
HP:0012531  |  Pain  |  1
HP:0001997  |  Gout  |  1
HP:0002204  |  Pulmonary embolism  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0002639  |  Budd-Chiari syndrome  |  1
HP:0012034  |  Liposarcoma  |  1
HP:0004736  |  Crossed fused renal ectopia  |  1
HP:0030448  |  Soft tissue sarcoma  |  1
HP:0030065  |  Primitive neuroectodermal tumor  |  1
HP:0000952  |  Yellow skin  |  1
HP:0002107  |  Collapsed lung  |  1
HP:0000086  |  Ectopic kidney  |  1
HP:0002665  |  Lymphoma  |  1
HP:0100697  |  Neurofibrosarcoma  |  1
HP:0002176  |  Spinal cord compression  |  1
Disease ID 1650
Disease sarcoma, synovial
Manually Symptom(Waiting for update.)
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:1)
HP ID HP Name MP ID MP Name Annotation
HP:0012570Synovial sarcomaMP:0011110preweaning lethality, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
Disease ID 1650
Disease sarcoma, synovial
Case(Waiting for update.)