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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   liposarcoma
  

Disease ID 669
Disease liposarcoma
Definition
A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)
Synonym
[m]liposarcoma nos
[m]liposarcoma nos (morphologic abnormality)
fibroliposarcoma
liposarcoma (disorder)
liposarcoma (morphologic abnormality)
liposarcoma [disease/finding]
liposarcoma morphology
liposarcoma not otherwise specified
liposarcoma, malignant
liposarcoma, no icd-o subtype
liposarcoma, no icd-o subtype (morphologic abnormality)
liposarcoma, no international classification of diseases for oncology subtype
liposarcoma, no international classification of diseases for oncology subtype (morphologic abnormality)
liposarcoma, nos
liposarcomas
Orphanet
DOID
UMLS
C0023827
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:30)
C0023798  |  lipoma  |  4
C1261473  |  sarcomas  |  3
C0007134  |  renal cell carcinoma  |  3
C0023827  |  liposarcoma  |  3
C1261473  |  sarcoma  |  2
C0039101  |  synovial sarcoma  |  2
C1261473  |  soft tissue sarcomas  |  1
C0600139  |  prostatic carcinoma  |  1
C0023798  |  lipomas  |  1
C1266042  |  chromophobe renal cell carcinoma  |  1
C1261473  |  soft tissue sarcoma  |  1
C0019294  |  inguinal hernia  |  1
C0334121  |  inflammatory myofibroblastic tumor  |  1
C0585129  |  retroperitoneal sarcoma  |  1
C0036220  |  kaposi's sarcoma  |  1
C0007112  |  prostatic adenocarcinoma  |  1
C0494165  |  hepatic metastasis  |  1
C1266119  |  solitary fibrous tumor  |  1
C0019829  |  hodgkin lymphoma  |  1
C0334121  |  inflammatory pseudotumor  |  1
C0153676  |  pulmonary metastases  |  1
C0025202  |  malignant melanoma  |  1
C0010346  |  crohn's disease  |  1
C0029463  |  osteosarcoma  |  1
C0751483  |  hereditary retinoblastoma  |  1
C0021845  |  bowel perforation  |  1
C0085113  |  neurofibromatosis  |  1
C0740457  |  renal cancer  |  1
C1334699  |  mesenchymal tumor  |  1
C0024305  |  non-hodgkin lymphoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:4)
2194  |  FASN  |  CTD_human
4763  |  NF1  |  CTD_human
8089  |  YEATS4  |  CTD_human
1019  |  CDK4  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:116)
149685  |  ADIG  |  1.854  |  DISEASES
238  |  ALK  |  1.533  |  DISEASES
154796  |  AMOT  |  1.435  |  DISEASES
283  |  ANG  |  1.46  |  DISEASES
55107  |  ANO1  |  1.651  |  DISEASES
9138  |  ARHGEF1  |  2.596  |  DISEASES
488  |  ATP2A2  |  1.584  |  DISEASES
546  |  ATRX  |  1.426  |  DISEASES
800  |  CALD1  |  2.827  |  DISEASES
4267  |  CD99  |  1.601  |  DISEASES
996  |  CDC27  |  1.387  |  DISEASES
23097  |  CDK19  |  1.779  |  DISEASES
1029  |  CDKN2A  |  2.982  |  DISEASES
1050  |  CEBPA  |  1.523  |  DISEASES
1675  |  CFD  |  1.321  |  DISEASES
9074  |  CLDN6  |  1.284  |  DISEASES
283971  |  CLEC18C  |  5.486  |  DISEASES
1368  |  CPM  |  2.889  |  DISEASES
1380  |  CR2  |  1.832  |  DISEASES
64764  |  CREB3L2  |  6.338  |  DISEASES
1485  |  CTAG1B  |  2.805  |  DISEASES
1499  |  CTNNB1  |  1.364  |  DISEASES
1649  |  DDIT3  |  5.39  |  DISEASES
26052  |  DNM3  |  1.49  |  DISEASES
29102  |  DROSHA  |  1.304  |  DISEASES
8445  |  DYRK2  |  1.317  |  DISEASES
1874  |  E2F4  |  1.241  |  DISEASES
10480  |  EIF3M  |  2.115  |  DISEASES
2115  |  ETV1  |  2.038  |  DISEASES
2130  |  EWSR1  |  5.282  |  DISEASES
2195  |  FAT1  |  1.428  |  DISEASES
2199  |  FBLN2  |  1.246  |  DISEASES
2259  |  FGF14  |  1.433  |  DISEASES
2260  |  FGFR1  |  1.221  |  DISEASES
2314  |  FLII  |  1.608  |  DISEASES
2300  |  FOXL1  |  1.326  |  DISEASES
2308  |  FOXO1  |  1.743  |  DISEASES
4303  |  FOXO4  |  1.771  |  DISEASES
2356  |  FPGS  |  1.117  |  DISEASES
50486  |  G0S2  |  1.248  |  DISEASES
23193  |  GANAB  |  1.212  |  DISEASES
2874  |  GPS2  |  2.396  |  DISEASES
3039  |  HBA1  |  2.258  |  DISEASES
3052  |  HCCS  |  5.488  |  DISEASES
85236  |  HIST1H2BK  |  2.258  |  DISEASES
8091  |  HMGA2  |  4.035  |  DISEASES
29911  |  HOOK2  |  1.979  |  DISEASES
10561  |  IFI44  |  1.705  |  DISEASES
91156  |  IGFN1  |  3.178  |  DISEASES
11172  |  INSL6  |  2.271  |  DISEASES
55705  |  IPO9  |  2.875  |  DISEASES
10379  |  IRF9  |  1.056  |  DISEASES
3725  |  JUN  |  1.809  |  DISEASES
1316  |  KLF6  |  1.436  |  DISEASES
25804  |  LSM4  |  2.302  |  DISEASES
7786  |  MAP3K12  |  1.057  |  DISEASES
4151  |  MB  |  2.201  |  DISEASES
154141  |  MBOAT1  |  2.324  |  DISEASES
4168  |  MCF2  |  2.195  |  DISEASES
4193  |  MDM2  |  6.512  |  DISEASES
4194  |  MDM4  |  1.789  |  DISEASES
9968  |  MED12  |  1.342  |  DISEASES
57496  |  MKL2  |  2.534  |  DISEASES
2315  |  MLANA  |  2.589  |  DISEASES
4311  |  MME  |  1.821  |  DISEASES
4338  |  MOCS2  |  1.557  |  DISEASES
4609  |  MYC  |  1.912  |  DISEASES
89795  |  NAV3  |  1.495  |  DISEASES
10499  |  NCOA2  |  1.492  |  DISEASES
4763  |  NF1  |  1.965  |  DISEASES
64332  |  NFKBIZ  |  1.21  |  DISEASES
10360  |  NPM3  |  2.05  |  DISEASES
8013  |  NR4A3  |  2.592  |  DISEASES
55611  |  OTUB1  |  1.783  |  DISEASES
5074  |  PAWR  |  1.771  |  DISEASES
5081  |  PAX7  |  1.762  |  DISEASES
5155  |  PDGFB  |  1.405  |  DISEASES
5236  |  PGM1  |  1.371  |  DISEASES
23612  |  PHLDA3  |  2.064  |  DISEASES
5324  |  PLAG1  |  3.72  |  DISEASES
5499  |  PPP1CA  |  2.034  |  DISEASES
5501  |  PPP1CC  |  2.171  |  DISEASES
5515  |  PPP2CA  |  1.739  |  DISEASES
23532  |  PRAME  |  2.018  |  DISEASES
400736  |  PRAMEF13  |  3.527  |  DISEASES
9055  |  PRC1  |  2.16  |  DISEASES
5728  |  PTEN  |  1.627  |  DISEASES
84795  |  PYROXD2  |  2.53  |  DISEASES
26064  |  RAI14  |  1.979  |  DISEASES
8437  |  RASAL1  |  1.297  |  DISEASES
9939  |  RBM8A  |  1.633  |  DISEASES
1102  |  RCBTB2  |  1.788  |  DISEASES
5979  |  RET  |  1.549  |  DISEASES
6187  |  RPS2  |  1.218  |  DISEASES
53637  |  S1PR5  |  1.135  |  DISEASES
64218  |  SEMA4A  |  1.366  |  DISEASES
29072  |  SETD2  |  1.166  |  DISEASES
23583  |  SMUG1  |  2.911  |  DISEASES
6663  |  SOX10  |  1.862  |  DISEASES
11166  |  SOX21  |  2.949  |  DISEASES
10927  |  SPIN1  |  1.704  |  DISEASES
10772  |  SRSF10  |  3.258  |  DISEASES
6760  |  SS18  |  2.66  |  DISEASES
6756  |  SSX1  |  1.414  |  DISEASES
727837  |  SSX2B  |  2.431  |  DISEASES
55342  |  STRBP  |  2.017  |  DISEASES
8148  |  TAF15  |  2.975  |  DISEASES
8115  |  TCL1A  |  1.185  |  DISEASES
58476  |  TP53INP2  |  1.72  |  DISEASES
131405  |  TRIM71  |  1.954  |  DISEASES
10103  |  TSPAN1  |  1.305  |  DISEASES
6675  |  UAP1  |  1.598  |  DISEASES
7321  |  UBE2D1  |  1.885  |  DISEASES
7490  |  WT1  |  2.605  |  DISEASES
4904  |  YBX1  |  1.653  |  DISEASES
81030  |  ZBP1  |  1.059  |  DISEASES
Locus(Waiting for update.)
Disease ID 669
Disease liposarcoma
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:9)
HP:0003401  |  Paresthesia
HP:0000077  |  Abnormality of the kidney
HP:0012378  |  Fatigue
HP:0002027  |  Abdominal pain
HP:0001482  |  Subcutaneous nodule
HP:0002017  |  Nausea and vomiting
HP:0001824  |  Weight loss
HP:0100242  |  Sarcoma
HP:0002619  |  Varicose veins
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:22)
HP:0002664  |  Neoplasia  |  14
HP:0030731  |  Carcinoma  |  5
HP:0012032  |  Lipoma  |  4
HP:0012034  |  Liposarcoma  |  3
HP:0005584  |  Renal cell carcinoma  |  3
HP:0001289  |  Confusion  |  2
HP:0012570  |  Synovial sarcoma  |  2
HP:0100242  |  Sarcoma  |  2
HP:0030448  |  Soft tissue sarcoma  |  1
HP:0002669  |  Osteosarcoma  |  1
HP:0001067  |  Neurofibromas  |  1
HP:0100544  |  Heart tumor  |  1
HP:0002861  |  Melanoma  |  1
HP:0012031  |  Lipomatous tumor  |  1
HP:0100726  |  Kaposi's sarcoma  |  1
HP:0012539  |  Non-Hodgkin lymphoma  |  1
HP:0000023  |  Inguinal hernia  |  1
HP:0100790  |  Hernia  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0100013  |  Tumours of the breast  |  1
HP:0000718  |  Aggressive behaviour  |  1
HP:0012189  |  Hodgkin disease  |  1
Disease ID 669
Disease liposarcoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:9)
C2248595  |  dedifferentiation
C1704231  |  meningeal metastases
C0686377  |  central nervous system metastasis
C0346976  |  pancreatic metastasis
C0153685  |  renal metastases
C0153676  |  pulmonary metastasis
C0085077  |  sweet syndrome
C0023798  |  lipoma
C0021843  |  intestinal obstruction
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0002793  |  dedifferentiation  |  7
C0023798  |  lipoma  |  4
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:3)
HP ID HP Name MP ID MP Name Annotation
HP:0002017Nausea and vomitingMP:0010426abnormal heart and great artery attachmentany anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0001824Weight lossMP:0005114premature hair lossrelease of fur at an earlier than expected time
HP:0000077Abnormality of the kidneyMP:0011665d-loop transposition of the great arteriescomplete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
Mapped by homologous gene(Total Items:9)
HP ID HP Name MP ID MP Name Annotation
HP:0001824Weight lossMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002027Abdominal painMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002619Varicose veinsMP:0011967increased or absent threshold for auditory brainstem responseincrease in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o
HP:0000077Abnormality of the kidneyMP:0013294prenatal lethality prior to heart atrial septationdeath prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0001482Subcutaneous noduleMP:0013542abnormal submandibular gland branching morphogenesis
HP:0003401ParesthesiaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0100242SarcomaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0012378FatigueMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0002017Nausea and vomitingMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
Disease ID 669
Disease liposarcoma
Case(Waiting for update.)