MXLIPO
MCID: MYX005
MIFTS: 66

Myxoid Liposarcoma (MXLIPO)

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Myxoid Liposarcoma

MalaCards integrated aliases for Myxoid Liposarcoma:

Name: Myxoid Liposarcoma 56 12 74 52 73 36 29 13 15 17
Myxoid/round Cell Liposarcoma 12 52 58 71
Liposarcoma, Myxoid 43 39 71
Liposarcoma 58 71
Mrcls 52 58
Liposarcoma Myxoid 54
Myxoliposarcoma 52
Mxlipo 73

Characteristics:

Orphanet epidemiological data:

58
liposarcoma
Prevalence: 1-9/100000 (Europe); Age of onset: All ages;
myxoid/round cell liposarcoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: adult;

HPO:

31
myxoid liposarcoma:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:5363
OMIM 56 613488
KEGG 36 H00049
MeSH 43 D018208
SNOMED-CT 67 27849002
MESH via Orphanet 44 D008080 D018208
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 72 C0023827 C0206634
MedGen 41 C0206634
UMLS 71 C0023827 C0206634 C0545074

Summaries for Myxoid Liposarcoma

NIH Rare Diseases : 52 Myxoid liposarcoma is a subtype of liposarcoma , tumors that arise in the body's fat tissue . Other categories of liposarcoma include well-differentiated; dedifferentiated; round cell ; and pleomorphic. Round cell and myxoid liposarcomas are sometimes grouped together into one category known as myxoid/round cell liposarcoma (MRCLS). In adults, liposarcomas are the most common type of soft tissue sarcoma . The cause of liposarcomas is not well-established but trauma has been implicated in some cases. Myxoid liposarcomas generally arise in the lower extremities. Symptoms may vary depending on the location of the tumor but may include swelling; decreased range of motion; numbness; fatigue; abdominal pain; weight loss; nausea; and vomiting. Many patients with liposarcoma have no symptoms until the tumor is large and interferes with neighboring structures. When possible, surgical removal is the preferred treatment. In some cases, additional therapy may be indicated. The prognosis is generally favorable for those with a low grade myxoid liposarcoma with a small percentage of round cells. A significant round cell component is associated with a poorer prognosis. Although these tumors rarely spread, they can recur if not completely removed.

MalaCards based summary : Myxoid Liposarcoma, also known as myxoid/round cell liposarcoma, is related to myxoid liposarcoma of the ovary and cellular myxoid liposarcoma. An important gene associated with Myxoid Liposarcoma is MXLPO (Myxoid Liposarcoma), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Cellular Senescence (REACTOME). The drugs Cyclophosphamide and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and adipocyte, and related phenotypes are subcutaneous nodule and abdominal pain

Disease Ontology : 12 A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has material basis in chromosomal translocations.

OMIM : 56 Myxoid liposarcoma is a soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion (review by Dei Tos, 2000). (613488)

KEGG : 36 Liposarcoma(LS) represents the most common soft-tissue sarcoma of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and pleomorphic types. The myxoid type, the most common subtype, accounts for approximately 40% to 54% of all liposarcomas. The karyotypic hallmark of myxoid LS is the t(12;16)(q13;p11), present cytogenetically in >90% of the cases. The translocation leads to the fusion of the DDIT3(CHOP) and FUS(TLS) genes at 12q13 and 16p11, respectively, and the generation of a FUS-DDIT3 hybrid protein. In 4 cases of myxoid LS, a variant chromosomal translocation has been described, t(12;22), in which DDIT3 fuses instead with EWSR1(EWS), a gene highly related to TLS.

UniProtKB/Swiss-Prot : 73 Myxoid liposarcoma: A soft tissue tumor that tends to occur in the limbs (especially the thigh) of patients ranging in age from 35 to 55 years. It is defined by the presence of a hypocellular spindle cell proliferation set in a myxoid background, often with mucin pooling. Lipoblasts tend to be small and often monovacuolated and to cluster around vessels or at the periphery of the lesion.

Wikipedia : 74 A myxoid liposarcoma is a malignant adipose tissue neoplasm of myxoid appearance... more...

Related Diseases for Myxoid Liposarcoma

Diseases related to Myxoid Liposarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 496)
# Related Disease Score Top Affiliating Genes
1 myxoid liposarcoma of the ovary 35.2 FUS EWSR1 DDIT3
2 cellular myxoid liposarcoma 34.6 MDM2 FUS EWSR1 DDIT3 CDK4
3 sclerosing liposarcoma 34.4 MDM2 FUS
4 spindle cell liposarcoma 34.4 MDM2 DDIT3 CDK4
5 adult liposarcoma 34.3 MDM2 CDK4
6 pediatric liposarcoma 34.2 MDM2 HMGA2 FUS DDIT3 CDK4
7 liposarcoma 32.1 YBX1 TP53 MDM2 IGF1R HMGA2 FUS
8 soft tissue sarcoma 32.1 TP53 MDM2 EWSR1
9 pleomorphic lipoma 31.8 MDM2 HMGA2 CDK4
10 lipoblastoma 31.6 MDM2 CDK4
11 lipomatosis, multiple 31.6 MDM2 HMGA2 FUS EWSR1 DDIT3 CDK4
12 retroperitoneal sarcoma 31.5 MDM2 EWSR1 CDK4
13 malignant fibroxanthoma 31.4 MDM2 HMGA2 DDIT3 CDK4
14 dedifferentiated liposarcoma 31.4 TP53 MDM2 HMGA2 CDK4
15 well-differentiated liposarcoma 31.4 MDM2 HMGA2 FUS EWSR1 DDIT3 CDK4
16 pleomorphic liposarcoma 31.3 MDM2 FUS EWSR1 DDIT3 CDK4
17 fibrous histiocytoma 31.3 FUS EWSR1 ATF1
18 liposarcoma of the ovary 31.2 FUS EWSR1 DDIT3
19 mixed liposarcoma 31.2 MDM2 FUS DDIT3 CDK4
20 leiomyosarcoma 31.2 TP53 MDM2 HMGA2 CDK4
21 infiltrating lipoma 31.2 MDM2 HMGA2 CDK4
22 connective tissue benign neoplasm 31.2 TP53 MDM2 CDK4
23 pleomorphic adenoma 31.1 TP53 MDM2 HMGA2
24 mesenchymal cell neoplasm 31.1 TP53 HMGA2 EWSR1
25 familial retinoblastoma 31.1 TP53 MDM2 CDK4
26 mediastinum liposarcoma 31.0 MDM2 CDK4
27 gastric liposarcoma 31.0 MDM2 CDK4
28 inflammatory myofibroblastic tumor 31.0 TP53 MDM2 CDK4
29 histiocytoma 31.0 TP53 MDM2 FUS EWSR1 CDK4 ATF1
30 sarcoma, synovial 30.9 MDM2 IGF1R HMGA2 FUS EWSR1
31 liposarcoma of bone 30.9 MDM2 CDK4
32 inflammatory mfh 30.9 MDM2 CDK4
33 embryonal sarcoma 30.9 TP53 MDM2 CDK4
34 rhabdomyosarcoma 30.9 TP53 MDM2 IGF1R EWSR1 CDK4
35 leukemia, acute myeloid 30.9 TP53 MIR486-1 MDM2 EWSR1 CXCL8 CEBPB
36 malignant peripheral nerve sheath tumor 30.8 TP53 MDM2 IGF1R HMGA2 CDK4
37 extraosseous chondrosarcoma 30.7 FUS EWSR1 DDIT3
38 dermatofibrosarcoma protuberans 30.7 TP53 HMGA2 CDK4
39 chondrosarcoma, extraskeletal myxoid 30.7 FUS EWSR1 DDIT3
40 sarcomatosis 30.7 EWSR1 ATF1
41 clear cell sarcoma 30.7 FUS EWSR1 ATF1
42 osteogenic sarcoma 30.6 TP53 MDM2 IGF1R CDK4
43 embryonal rhabdomyosarcoma 30.6 TP53 MDM2 EWSR1 CDK4
44 eye disease 30.5 TP53 MIR486-1 MDM2 CXCL8 CDK4
45 ewing sarcoma 30.5 TP53 MDM2 IGF1R FUS EWSR1 ERG
46 suppression of tumorigenicity 12 30.4 TP53 MDM2 IGF1R CXCL8 CDK4
47 juxtacortical osteosarcoma 30.4 MDM2 CDK4
48 ring chromosome 30.3 TP53 MDM2 IGF1R HMGA2 EWSR1 CDK4
49 lipoma of spermatic cord 30.3 MDM2 CDK4
50 sarcoma 30.3 TP53 MDM2 IGF1R FUS EWSR1 ERG

Graphical network of the top 20 diseases related to Myxoid Liposarcoma:



Diseases related to Myxoid Liposarcoma

Symptoms & Phenotypes for Myxoid Liposarcoma

Human phenotypes related to Myxoid Liposarcoma:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
2 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002027
3 gastrointestinal dysmotility 58 31 occasional (7.5%) Occasional (29-5%) HP:0002579
4 nausea and vomiting 58 Occasional (29-5%)
5 fatigue 58 Occasional (29-5%)
6 weight loss 58 Occasional (29-5%)
7 paresthesia 58 Occasional (29-5%)
8 abnormality of the kidney 58 Occasional (29-5%)
9 sarcoma 58 Very frequent (99-80%)
10 varicose veins 58 Occasional (29-5%)
11 myxoid liposarcoma 31 HP:0012268

Clinical features from OMIM:

613488

GenomeRNAi Phenotypes related to Myxoid Liposarcoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CDK4 CEBPB CXCL8 DDIT3 ERG IGF1R

MGI Mouse Phenotypes related to Myxoid Liposarcoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 CDK4 CEBPB DDIT3 ERG IGF1R MDM2
2 hematopoietic system MP:0005397 10.11 CDK4 CEBPB DDIT3 ERG IGF1R MDM2
3 endocrine/exocrine gland MP:0005379 10.06 CDK4 CEBPB DDIT3 ERG IGF1R MDM2
4 integument MP:0010771 9.97 CDK4 CEBPB ERG IGF1R MDM2 NFKBIZ
5 liver/biliary system MP:0005370 9.8 CDK4 CEBPB DDIT3 IGF1R MDM2 TP53
6 neoplasm MP:0002006 9.76 CDK4 CEBPB DDIT3 ERG IGF1R MDM2
7 respiratory system MP:0005388 9.5 ERG IGF1R NFKBIZ PTX3 THBS2 TP53
8 skeleton MP:0005390 9.28 CDK4 CEBPB ERG IGF1R MDM2 P3H2

Drugs & Therapeutics for Myxoid Liposarcoma

Drugs for Myxoid Liposarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
2
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
3
Lenograstim Approved, Investigational Phase 3 135968-09-1
4
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
5
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
6
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
7
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
8
Etoposide Approved Phase 3 33419-42-0 36462
9
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
10
Epirubicin Approved Phase 3 56420-45-2 41867
11
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
12
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
13 Olaratumab Approved, Investigational Phase 3 1024603-93-7
14
Ifosfamide Approved Phase 3 3778-73-2 3690
15
Histamine Approved, Investigational Phase 3 51-45-6 774
16
Cyproheptadine Approved Phase 3 129-03-3 2913
17 Immunosuppressive Agents Phase 3
18 Antirheumatic Agents Phase 3
19 Antibiotics, Antitubercular Phase 3
20 Anti-Bacterial Agents Phase 3
21 Pharmaceutical Solutions Phase 3
22 Etoposide phosphate Phase 3
23 Antimitotic Agents Phase 3
24 Topoisomerase Inhibitors Phase 3
25
Liposomal doxorubicin Phase 3 31703
26
Isophosphamide mustard Phase 3 0
27 Gastrointestinal Agents Phase 3
28 Neurotransmitter Agents Phase 3
29 Dermatologic Agents Phase 3
30 Histamine Antagonists Phase 3
31 Serotonin Agents Phase 3
32 Histamine H1 Antagonists Phase 3
33 Serotonin Antagonists Phase 3
34 Anti-Allergic Agents Phase 3
35
Histamine Phosphate Phase 3 51-74-1 65513
36 Antipruritics Phase 3
37
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
38
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
39
Mecasermin Approved, Investigational Phase 2 68562-41-4
40
Rosiglitazone Approved, Investigational Phase 2 122320-73-4 77999
41
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
42
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
43
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
44
Bevacizumab Approved, Investigational Phase 2 216974-75-3
45
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
46
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
47
Palbociclib Approved, Investigational Phase 1, Phase 2 571190-30-2 5005498 5330286 11431660
48
Ipilimumab Approved Phase 1, Phase 2 477202-00-9
49
Topotecan Approved, Investigational Phase 2 123948-87-8, 119413-54-6 60700
50
Lenvatinib Approved, Investigational Phase 1, Phase 2 417716-92-8

Interventional clinical trials:

(show top 50) (show all 149)
# Name Status NCT ID Phase Drugs
1 A Phase III Randomized Study of Preoperative Radiotherapy Plus Surgery Versus Surgery Alone for Patients With Retroperitoneal Sarcoma (RPS) Unknown status NCT01344018 Phase 3
2 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Phase III Study of The Role of Barrier Resection in Local Control in Treatment of Extremity Soft Tissue Sarcomas Unknown status NCT02120768 Phase 3
4 A Randomized Controlled Study of YONDELIS (Trabectedin) or Dacarbazine for the Treatment of Advanced Liposarcoma or Leiomyosarcoma Completed NCT01343277 Phase 3 Trabectedin;Dacarbazine
5 Multicenter, Open-label Study of YONDELIS (Trabectedin) in Subjects With Locally Advanced or Metastatic Liposarcoma or Leiomyosarcoma Completed NCT01692678 Phase 3 Trabectedin;Dacarbazine
6 A Phase III Randomized Study of Preoperative Radiation Plus Surgery Versus Surgery Alone for Patients With Retroperitoneal Sarcomas (RPS) Completed NCT00091351 Phase 3
7 Randomised Trial of Post-Operative Radiotherapy Given to Adult Patients With Extremity Soft Tissue Sarcoma [VORTEX] Completed NCT00423618 Phase 3
8 METASTASECTOMY AND CHEMOTHERAPY FOR LUNG METASTASES FROM SOFT TISSUE SARCOMA: A RANDOMIZED PHASE III STUDY (AN INTERGROUP STUDY WITH THE SCANDINAVIAN SARCOMA GROUP) Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
9 Randomized Phase III Trial of Two Investigational Schedules of Ifosfamide vs. Standard Dose Doxorubicin in Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00003212 Phase 3 doxorubicin hydrochloride;ifosfamide
10 Randomized Study Comparing Neoadjuvant Chemotherapy Etoposide + Ifosfamide + Adriamycin (EIA) Combined With Regional Hyperthermia (RHT) Versus Neoadjuvant Chemotherapy Alone in the Treatment of High-Risk Soft Tissue Sarcomas in Adults Completed NCT00003052 Phase 3 doxorubicin hydrochloride;etoposide;ifosfamide
11 Randomised Trial Of Single Agent Doxorubicin Versus Doxorubicin Plus Ifosfamide In The First Line Treatment Of Advanced Or Metastatic Soft Tissue Sarcoma Completed NCT00061984 Phase 3 doxorubicin hydrochloride;ifosfamide
12 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
13 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
14 Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754) Completed NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
15 MMT 95 Study For Rhabdomyosarcoma and Other Malignant Soft Tissue Tumors of Childhood Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
16 Localized High-Risk Soft Tissue Sarcomas Of The Extremities And Trunk Wall In Adults: An Integrating Approach Comprising Standard Vs Histotype-Tailored Neoadjuvant Chemotherapy Recruiting NCT01710176 Phase 3 epirubicin 60 mg/m2/day (days 1, 2) and ifosfamide 3 g/m2/day (days 1, 2, 3);gemcitabine 900 mg/m2 (days 1 and 8) and docetaxel 75 mg/m2 (day 8);trabectedin 1.3 mg/m2;high-dose ifosfamide 14 g/m2, given in in 14 days;etoposide 150 mg/m2/day (days 1, 2, 3) and ifosfamide 3g/m2/day (days 1, 2, 3);gemcitabine 1800 mg/m2 (day 1) and dacarbazine 500 mg/m2 (day 1)
17 A Phase 2-3, Multicenter, Randomized, Double-blind Study of Selinexor (KPT-330) Versus Placebo in Patients With Advanced Unresectable Dedifferentiated Liposarcoma (DDLS) Recruiting NCT02606461 Phase 2, Phase 3 Selinexor;Placebo
18 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Doxorubicin Plus Olaratumab Versus Doxorubicin Plus Placebo in Patients With Advanced or Metastatic Soft Tissue Sarcoma Active, not recruiting NCT02451943 Phase 3 Olaratumab;Doxorubicin;Placebo
19 A Randomized Phase III Study of Neoadjuvant Chemotherapy Followed by Surgery Versus Surgery Alone for Patients With High Risk RetroPeritoneal Sarcoma (RPS) Not yet recruiting NCT04031677 Phase 3 Preoperative chemotherapy
20 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
21 Time to Secondary Resistance to Trabectedin After Interruption Versus Continuation in Responding Patients With Liposarcoma, Leiomyosarcoma and Synovial Sarcoma Withdrawn NCT03773510 Phase 3 Trabectedin discontinuation;Trabectedin continuation
22 A Phase II, Multicenter Study to Explore the Efficacy and Safety of Brostallicin in Patients With Myxoid Liposarcoma With (12:16) Translocation Unknown status NCT00633165 Phase 2 Brostallicin
23 Phase I-II Prospective Trial, Multicenter, Open Label, Exploring the Combination of Trabectedin Plus Radiotherapy in Soft Tissue Sarcoma Patients Unknown status NCT02275286 Phase 1, Phase 2 Trabectedin
24 A Phase II Single Arm Study Assessing Efficacy & Safety of Ribociclib in Patients With Advanced Well-Differentiated or Dedifferentiated Liposarcoma Unknown status NCT02571829 Phase 2 ribociclib
25 Assessment of Helical Tomotherapy Radiotherapy (54 Gy) Followed by Surgery in Retro-peritoneal Liposarcoma Unknown status NCT01841047 Phase 2
26 GEIS-27: Phase I/II Multicenter and Prospective Trial of Nilotinib and Adriamycin as Neoadjuvant Treatment in Liposarcomas and Leiomyosarcomas of Retroperitoneum Unknown status NCT02587169 Phase 1, Phase 2 Nilotinib-adriamycin
27 Apatinib for Advanced Soft Tissue Sarcoma Patients After Failure of Traditional Therapy: an One-armed, Phase 2, Open-label, Multicenter Prospective Trial Unknown status NCT03104335 Phase 2 Apatinib
28 Phase II Evaluation of Temodal (Temozolomide, Schering) in Previously Treated Advanced Sarcomas Unknown status NCT00003718 Phase 2 temozolomide
29 Randomized Phase II Study of Brostallicin (PNU-166196A) Versus Doxorubicin as First Line Chemotherapy in Patients With Advanced or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
30 A Multicenter Phase II Clinical Trial of Neoadjuvant Trabectedin (Yondelis) in Patients With Localized Myxoid / Round Cell Liposarcoma Completed NCT00579501 Phase 2 Trabectedin;Dexamethasone
31 A Randomized, Open-Label, Phase 2 Trial of CMB305 (Sequentially Administered LV305 and G305) and Atezolizumab in Patients With Locally Advanced, Relapsed, or Metastatic Sarcoma Expressing NY-ESO-1 Completed NCT02609984 Phase 2
32 A Phase II Trial of R1507, a Recombinant Human Monoclonal Antibody to the Insulin-Like Growth Factor-1 Receptor for the Treatment of Participants With Recurrent or Refractory Ewing's Sarcoma, Osteosarcoma, Synovial Sarcoma, Rhabdomyosarcoma and Other Sarcomas. Completed NCT00642941 Phase 2 RG1507
33 SAFETY AND ACTIVITY OF TRABECTEDIN AS FIRST LINE IN ADVANCED SOFT TISSUE SARCOMA (STS) PATIENTS UNFIT TO RECEIVE STANDARD CHEMOTHERAPY: A PROSPECTIVE PHASE II STUDY WITH CLINICAL AND MOLECULAR CORRELATES Completed NCT02066675 Phase 2 Trabectedin
34 A Phase II Study of Pazopanib in the Treatment of Surgically Unresectable or Metastatic Liposarcoma Completed NCT01506596 Phase 2 pazopanib
35 Phase II Clinical Trial of TROGLITAZONE, a Ligand for the Peroxisome Proliferator-Activated Receptor Gamma (PPAR), as Antineoplastic Differentiation Therapy for Patients With Malignant Liposarcoma Completed NCT00003058 Phase 2 troglitazone
36 Phase II Clinical Trial of Rosiglitazone, a Full-Agonist Ligand for the Peroxisome Proliferator-Activated Receptor Gamma (PPAR), as Differentiation Therapy for Patients With Liposarcoma Completed NCT00004180 Phase 2 rosiglitazone maleate
37 A Phase II Study on Trabectedin in Advanced Retroperitoneal Leiomyosarcoma and Well Differentiated/Dedifferentiated Liposarcoma Completed NCT02247544 Phase 2 Trabectedin
38 A Phase II Study Of PD0332991 (Palbociclib) in Patients With Advanced or Metastatic Liposarcoma Completed NCT01209598 Phase 2 Palbociclib 200mg;Palbociclib 125mg
39 Phase II Clinical Trial of Pazopanib to Evaluate the Activity and Tolerability in Patients With Advanced and/or Metastatic Liposarcoma Who Have Relapsed Following Standard Therapies or for Whom no Standard Therapy Exists Completed NCT01692496 Phase 2 Pazopanib
40 A Phase II Study of AP23573, An mTOR Inhibitor, in Patients With Advanced Sarcoma Completed NCT00093080 Phase 2 ridaforolimus
41 Phase II Open-Label Study of Sunitinib Malate (SU011248) in Adult Patients With Metastatic and/or Surgically Unresectable Soft Tissue Sarcoma Completed NCT00400569 Phase 2 Sunitinib Malate (SU011248)
42 A Randomized, Multicenter, Open-label Study of Yondelis (ET-743 Ecteinascidin) Administered by 2 Different Schedules (Weekly for 3 of 4 Weeks vs. q3 Weeks) in Subjects With Locally Advanced or Metastatic Liposarcoma or Leiomyosarcoma Following Treatment With an Anthracycline and Ifosfamide Completed NCT00060944 Phase 2 Yondelis;Yondelis;Dexamethasone;Dexamethasone
43 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
44 A Phase 2 Study of AZD0530 in Recurrent or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
45 Phase II Trial of BAY-9006 (NSC #724772) in Advanced Soft Tissue Sarcomas Completed NCT00217620 Phase 2 sorafenib
46 Phase II Study of MLN8237 in Advanced/Metastatic Sarcoma Completed NCT01653028 Phase 2 Alisertib
47 Phase II Study on ET-743 in Advanced Soft Tissue Sarcomas of the Adult Completed NCT00003939 Phase 2 trabectedin
48 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
49 Exatecan As Second-Line Treatment In Advanced Adult Soft Tissue Sarcoma: A Phase II - Study Of The EORTC Soft Tissue And Bone Sarcoma Group Completed NCT00041236 Phase 2 exatecan mesylate
50 Phase I/II Trial of Torisel and Liposomal Doxorubicin in Patients With Advanced Soft Tissue and Bone Sarcomas Completed NCT00949325 Phase 1, Phase 2 temsirolimus plus liposomal doxorubicin

Search NIH Clinical Center for Myxoid Liposarcoma

Cochrane evidence based reviews: liposarcoma, myxoid

Genetic Tests for Myxoid Liposarcoma

Genetic tests related to Myxoid Liposarcoma:

# Genetic test Affiliating Genes
1 Myxoid Liposarcoma 29

Anatomical Context for Myxoid Liposarcoma

MalaCards organs/tissues related to Myxoid Liposarcoma:

40
Bone, T Cells, Adipocyte, Breast, Testes, Liver, Kidney

Publications for Myxoid Liposarcoma

Articles related to Myxoid Liposarcoma:

(show top 50) (show all 901)
# Title Authors PMID Year
1
Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. 56 61 54
7503811 1993
2
Genomic PCR detects tumor cells in peripheral blood from patients with myxoid liposarcoma. 56 61
8913727 1996
3
Chromosome 12 breakpoints are cytogenetically different in benign and malignant lipogenic tumors: localization of breakpoints in lipoma to 12q15 and in myxoid liposarcoma to 12q13.3. 61 56
8453640 1993
4
A case of myxoid liposarcoma with translocation t(12;16) as the only abnormality. 61 56
3395985 1988
5
A complex translocation involving chromosomes 12 and 16 in a metastatic myxoid liposarcoma. 61 56
3395986 1988
6
Chromosomal changes in soft-tissue sarcomas. A new diagnostic parameter. 56 61
2823744 1987
7
The human int-1 gene is located at chromosome region 12q12-12q13 and is not rearranged in myxoid liposarcoma with t(12;16) (q13;p11). 56 61
3329717 1987
8
Clonal chromosome abnormalities in two liposarcomas. 56 61
3607734 1987
9
Lipomas have characteristic structural chromosomal rearrangements of 12q13-q14. 61 56
3473046 1987
10
Translocation t(12;16) in a case of myxoid liposarcoma. 61 56
3470133 1987
11
Rearrangement of the transcription factor gene CHOP in myxoid liposarcomas with t(12;16)(q13;p11). 56
1283316 1992
12
Localization of the chromosomal breakpoints of the t(12;16) in liposarcoma to subbands 12q13.3 and 16p11.2. 56
2372777 1990
13
The INT1 oncogene is not rearranged or amplified in lipomas with structural chromosomal abnormalities of 12q13-15. 56
2790742 1989
14
Different karyotypic features characterize different clinico-pathologic subgroups of benign lipogenic tumors. 56
3192332 1988
15
Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas. 56
3402992 1988
16
Reciprocal translocation t(3;12)(q27;q13) in lipoma. 56
3779626 1986
17
Cytogenetic studies of adipose tissue tumors. II. Recurrent reciprocal translocation t(12;16)(q13;p11) in myxoid liposarcomas. 56
3779625 1986
18
Recurrent chromosome translocations in liposarcoma. 56
3955533 1986
19
Trabectedin (ET-743) promotes differentiation in myxoid liposarcoma tumors. 54 61
19190116 2009
20
Translocations and amplifications of chromosome 12 in liposarcoma demonstrated by the LSI CHOP breakapart rearrangement probe. 61 54
18517278 2008
21
HMGA2 is the partner of MDM2 in well-differentiated and dedifferentiated liposarcomas whereas CDK4 belongs to a distinct inconsistent amplicon. 54 61
18214854 2008
22
The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms. 61 54
18162764 2008
23
Expression of the FUS-CHOP fusion protein in primary mesenchymal progenitor cells gives rise to a model of myxoid liposarcoma. 61 54
16849546 2006
24
Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma. 54 61
12915480 2003
25
RNA splicing mediated by YB-1 is inhibited by TLS/CHOP in human myxoid liposarcoma cells. 54 61
12168660 2002
26
Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11. 54 61
11063792 2000
27
CHOP/GADD153 and methionyl-tRNA synthetase (MetRS) genes overlap in a conserved region that controls mRNA stability. 61 54
10448063 1999
28
[Genetic studies of differential fatty tissue tumor diagnosis]. 61 54
9244875 1997
29
Distinct mdm2/p53 expression patterns in liposarcoma subgroups: implications for different pathogenetic mechanisms. 54 61
9071998 1997
30
Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins. 61 54
8954779 1996
31
Fusion of the EWS and CHOP genes in myxoid liposarcoma. 61 54
8637704 1996
32
Two distinct FUS breakpoint clusters in myxoid liposarcoma and acute myeloid leukemia with the translocations t(12;16) and t(16;21). 54 61
7566973 1995
33
The emerging molecular genetics of sarcoma translocations. 61 54
7493135 1995
34
The protooncogene CHOP/GADD153, involved in growth arrest and DNA damage response, is amplified in a subset of human sarcomas. 54 61
7828148 1994
35
A novel effector domain from the RNA-binding protein TLS or EWS is required for oncogenic transformation by CHOP. 54 61
7958914 1994
36
An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation. 54 61
8187069 1994
37
CHOP (GADD153) and its oncogenic variant, TLS-CHOP, have opposing effects on the induction of G1/S arrest. 61 54
8125258 1994
38
No rearrangements of the CHOP gene in malignant fibrous histiocytoma. 61 54
8143276 1994
39
The 12q13-q15 translocation breakpoints in pleomorphic adenoma and clear-cell sarcoma of tendons and aponeuroses are different from that in myxoid liposarcoma. 61 54
7687873 1993
40
Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma. 54 61
8510758 1993
41
Recurrent myxoid liposarcoma of the hand. 61
31827662 2020
42
Efficacy and safety of trabectedin for patients with unresectable and relapsed soft-tissue sarcoma in Japan: A Japanese Musculoskeletal Oncology Group study. 61
31825533 2019
43
Surgical Outcomes and Prognostic Factors of Myxoid Liposarcoma in Extremities: A Retrospective Study. 61
31721459 2019
44
Combination of PPARγ Agonist Pioglitazone and Trabectedin Induce Adipocyte Differentiation to Overcome Trabectedin Resistance in Myxoid Liposarcomas. 61
31481505 2019
45
Early detection of multiple bone and extra-skeletal metastases by body magnetic resonance imaging (BMRI) after treatment of Myxoid/Round-Cell Liposarcoma (MRCLS). 61
31447287 2019
46
Undifferentiated myxoid lipoblastoma with PLAG1 gene rearrangement in infant. 61
31796335 2019
47
Metastatic vertebral lesion mimicking an atypical hemangioma with negative 18F-FDG positron emission tomography-computed tomography. 61
31700555 2019
48
Isolated intraosseous extra-gnathic orbital myxoma: a clinicopathologic case report. 61
30489165 2019
49
Solitary metastasis of myxoid liposarcoma from the thigh to intraperitoneum: a case report. 61
31660994 2019
50
Myxoid Liposarcoma With Skeletal Metastases: Pathophysiology and Imaging Characteristics. 61
31813645 2019

Variations for Myxoid Liposarcoma

Cosmic variations for Myxoid Liposarcoma:

9 (show top 50) (show all 938)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149329806 ZFHX3 soft tissue,fat,liposarcoma,myxoid-round cell c.448C>A p.L150M 16:72959698-72959698 16
2 COSM101976918 XPO1 soft tissue,fat,liposarcoma,myxoid-round cell c.1288G>T p.V430L 2:61493011-61493011 16
3 COSM91381057 WT1 soft tissue,fat,liposarcoma,myxoid-round cell c.427G>A p.E143K 11:32434919-32434919 16
4 COSM85719005 TSC1 soft tissue,fat,liposarcoma,myxoid-round cell c.1079C>A p.T360N 9:132911064-132911064 16
5 COSM87898709 TP53 soft tissue,fat,liposarcoma,pleomorphic c.742C>T p.R248W 17:7674221-7674221 16
6 COSM88042811 TP53 soft tissue,fat,liposarcoma,myxoid-round cell c.640C>T p.H214Y 17:7674891-7674891 16
7 COSM87935416 TP53 soft tissue,fat,liposarcoma,myxoid-round cell c.499C>T p.Q167* 17:7675113-7675113 16
8 COSM87967829 TP53 soft tissue,fat,liposarcoma,pleomorphic c.421T>G p.C141G 17:7675191-7675191 16
9 COSM87912393 TP53 soft tissue,fat,liposarcoma,pleomorphic c.577C>T p.H193Y 17:7674954-7674954 16
10 COSM87908091 TP53 soft tissue,fat,liposarcoma,pleomorphic c.404G>T p.C135F 17:7675208-7675208 16
11 COSM87906877 TP53 soft tissue,fat,liposarcoma,pleomorphic c.493C>T p.Q165* 17:7675119-7675119 16
12 COSM87898758 TP53 soft tissue,fat,liposarcoma,pleomorphic c.707A>G p.Y236C 17:7674256-7674256 16
13 COSM87897745 TP53 soft tissue,fat,liposarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 16
14 COSM133378945 TET2 soft tissue,fat,liposarcoma,myxoid-round cell c.3809C>T p.T1270I 4:105259624-105259624 16
15 COSM84144724 SDHA soft tissue,fat,liposarcoma,myxoid-round cell c.664T>G p.L222V 5:228227-228227 16
16 COSM84143247 RICTOR soft tissue,fat,liposarcoma,pleomorphic c.3404C>T p.T1135M 5:38950444-38950444 16
17 COSM86627654 RB1 soft tissue,fat,liposarcoma,pleomorphic c.1818T>A p.Y606* 13:48456207-48456207 16
18 COSM86629113 RB1 soft tissue,fat,liposarcoma,pleomorphic c.2632G>A p.D878N 13:48476812-48476812 16
19 COSM85622159 RAF1 soft tissue,fat,liposarcoma,pleomorphic c.1141G>A p.D381N 3:12591760-12591760 16
20 COSM96852740 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.106G>A p.G36R 10:87894051-87894051 16
21 COSM96850334 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.335T>C p.L112P 10:87933094-87933094 16
22 COSM96844976 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.485A>T p.D162V 10:87933244-87933244 16
23 COSM96843637 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.518G>A p.R173H 10:87952143-87952143 16
24 COSM90596352 POLE soft tissue,fat,liposarcoma,myxoid-round cell c.2275C>T p.R759C 12:132667547-132667547 16
25 COSM86135850 PLK2 soft tissue,fat,liposarcoma,myxoid-round cell c.1337G>C p.R446P 5:58456073-58456073 16
26 COSM87132308 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.1633G>A p.E545K 3:179218303-179218303 16
27 COSM87132301 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.1624G>A p.E542K 3:179218294-179218294 16
28 COSM87132245 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.3140A>G p.H1047R 3:179234297-179234297 16
29 COSM87133148 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.3145G>C p.G1049R 3:179234302-179234302 16
30 COSM87132330 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.1035T>A p.N345K 3:179203765-179203765 16
31 COSM88395167 NOTCH2 soft tissue,fat,liposarcoma,myxoid-round cell c.5857C>T p.R1953C 1:119918478-119918478 16
32 COSM93657303 NF1 soft tissue,fat,liposarcoma,pleomorphic c.1105C>T p.Q369* 17:31201079-31201079 16
33 COSM93651081 NF1 soft tissue,fat,liposarcoma,pleomorphic c.4006C>T p.Q1336* 17:31249015-31249015 16
34 COSM87492291 NCOR1 soft tissue,fat,liposarcoma,myxoid-round cell c.4256C>T p.P1419L 17:16070422-16070422 16
35 COSM97248342 MUTYH soft tissue,fat,liposarcoma,myxoid-round cell c.536G>A p.R179H 1:45332794-45332794 16
36 COSM97249804 MUTYH soft tissue,fat,liposarcoma,myxoid-round cell c.1022C>T p.P341L 1:45331816-45331816 16
37 COSM85277257 MLH1 soft tissue,fat,liposarcoma,myxoid-round cell c.2146G>A p.V716M 3:37050528-37050528 16
38 COSM87804068 KRAS soft tissue,fat,liposarcoma,myxoid-round cell c.34G>A p.G12S 12:25245351-25245351 16
39 COSM88437574 KMT2C soft tissue,fat,liposarcoma,pleomorphic c.12200C>A p.P4067H 7:152154086-152154086 16
40 COSM129135588 KMT2A soft tissue,fat,liposarcoma,pleomorphic c.8095C>T p.R2699* 11:118503987-118503987 16
41 COSM129120591 KMT2A soft tissue,fat,liposarcoma,myxoid-round cell c.5792G>T p.G1931V 11:118498063-118498063 16
42 COSM88326583 KIT soft tissue,fat,liposarcoma,myxoid-round cell c.2334G>C p.K778N 4:54731971-54731971 16
43 COSM102161049 KDM6A soft tissue,fat,liposarcoma,pleomorphic c.3768C>G p.Y1256* 23:45090754-45090754 16
44 COSM90627870 JAK1 soft tissue,fat,liposarcoma,pleomorphic c.1595G>A p.R532H 1:64855562-64855562 16
45 COSM92324126 GATA2 soft tissue,fat,liposarcoma,myxoid-round cell c.436G>A p.G146S 3:128486162-128486162 16
46 COSM86840055 FLCN soft tissue,fat,liposarcoma,pleomorphic c.247G>A p.E83K 17:17227891-17227891 16
47 COSM110445901 FAT1 soft tissue,fat,liposarcoma,pleomorphic c.2806G>A p.V936I 4:186707022-186707022 16
48 COSM88598739 ERBB2 soft tissue,fat,liposarcoma,pleomorphic c.2441G>A p.R814H 17:39724859-39724859 16
49 COSM143832241 EPHA5 soft tissue,fat,liposarcoma,pleomorphic c.1705G>A p.D569N 4:65404462-65404462 16
50 COSM86767254 EPCAM soft tissue,fat,liposarcoma,myxoid-round cell c.457A>G p.R153G 2:47375265-47375265 16

Expression for Myxoid Liposarcoma

Search GEO for disease gene expression data for Myxoid Liposarcoma.

Pathways for Myxoid Liposarcoma

Pathways related to Myxoid Liposarcoma according to KEGG:

36
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

Pathways related to Myxoid Liposarcoma according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 TP53 MDM2 HMGA2 CXCL8 CEBPB CDK4
2
Show member pathways
12.74 TP53 MDM2 IGF1R ERG CDK4
3 12.71 TP53 MDM2 IGF1R CXCL8 CDK4
4 12.27 HMGA2 FUS EWSR1 ERG
5
Show member pathways
12.22 TP53 MDM2 IGF1R CEBPB
6
Show member pathways
12.18 TP53 CXCL8 CEBPB ATF1
7
Show member pathways
12.09 TP53 MDM2 IGF1R CDK4
8 12.09 YBX1 FUS EWSR1 DDIT3
9 11.98 TP53 MDM2 CXCL8 CDK4
10 11.95 TP53 MDM2 CDK4 ATF1
11 11.71 TP53 MDM2 IGF1R CDK4
12 11.7 TP53 MDM2 CDK4
13 11.67 TP53 NFKBIZ MDM2 IGF1R HMGA2 FUS
14 11.64 TP53 MDM2 CXCL8
15 11.58 TP53 MDM2 IGF1R CXCL8 CEBPB
16 11.5 PTX3 CXCL8 CEBPB
17 11.49 TP53 MDM2 CXCL8 CDK4
18 11.41 DDIT3 CXCL8 CDK4
19 11.25 TP53 MDM2 CDK4
20 11.22 TP53 MDM2 CDK4 ATF1
21 11.09 TP53 MDM2 CDK4
22 10.8 TP53 DDIT3 CEBPB ATF1

GO Terms for Myxoid Liposarcoma

Cellular components related to Myxoid Liposarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 YBX1 TP53 P3H2 MDM2 HMGA2 FUS
2 CHOP-C/EBP complex GO:0036488 8.62 DDIT3 CEBPB

Biological processes related to Myxoid Liposarcoma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.92 TP53 MDM2 HMGA2 DDIT3 CEBPB
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 YBX1 TP53 HMGA2 ERG DDIT3 CEBPB
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 YBX1 TP53 MDM2 HMGA2 DDIT3 CEBPB
4 response to endoplasmic reticulum stress GO:0034976 9.63 DDIT3 CXCL8 CEBPB
5 regulation of transcription, DNA-templated GO:0006355 9.61 YBX1 TP53 HMGA2 FUS EWSR1 ERG
6 response to hyperoxia GO:0055093 9.51 TP53 CDK4
7 cardiac septum morphogenesis GO:0060411 9.49 TP53 MDM2
8 PERK-mediated unfolded protein response GO:0036499 9.48 DDIT3 CXCL8
9 ER overload response GO:0006983 9.43 TP53 DDIT3
10 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.33 TP53 DDIT3 CEBPB
11 cellular response to UV-C GO:0071494 9.32 TP53 MDM2
12 cellular response to actinomycin D GO:0072717 9.26 TP53 MDM2
13 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 8.8 TP53 DDIT3 CEBPB

Molecular functions related to Myxoid Liposarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.33 YBX1 TP53 THBS2 PTX3 P3H2 NFKBIZ
2 DNA-binding transcription factor activity GO:0003700 9.85 YBX1 TP53 ERG DDIT3 CEBPB ATF1
3 identical protein binding GO:0042802 9.7 TP53 PTX3 MDM2 IGF1R FUS EWSR1
4 chromatin binding GO:0003682 9.65 YBX1 TP53 FUS ERG CEBPB
5 transcription regulatory region DNA binding GO:0044212 9.62 TP53 HMGA2 DDIT3 CEBPB
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 YBX1 TP53 HMGA2 ERG DDIT3 CEBPB
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.17 YBX1 TP53 HMGA2 ERG DDIT3 CEBPB

Sources for Myxoid Liposarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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