Aliases & Classifications for Liposarcoma

MalaCards integrated aliases for Liposarcoma:

Name: Liposarcoma 12 76 53 55 44 15 73

Classifications:



Summaries for Liposarcoma

NIH Rare Diseases : 53 Liposarcoma is a tumor that arises from fat tissue. This tumor often occurs in the thigh, legs, behind the knee, or in the abdomen, but it can be found in other parts of the body, in the retroperitoneum; and, less often, in the head and neck area. Their primary occurrence in the skin is rare. Because a liposarcoma may grow into surrounding tissues or organs, it is considered a malignant tumor. The World Health Organization classification of soft tissue tumors recognizes 5 types of liposarcomas: Well differentiated, which includes the adipocytic, sclerosing, and inflammatory subtypes; dedifferentiated; myxoid; round cell; and pleomorphic. Most patients with liposarcoma have no symptoms until the tumor is large and invades the neighboring organs or tissues, causing tenderness, pain, or functional problems. Although surgical removal of the tumor is the curative treatment, some patients may benefit from chemotherapy and radiation. Most patients with liposarcoma have no symptoms until the tumor is large and impinges on neighboring structures, causing tenderness, pain, or functional disturbances. In the retroperitoneal area, where liposarcoma is detected at a late stage, the tumor may grow to a substantial size, weighing several pounds at the time of diagnosis. In general, liposarcoma grows silently, and the patient's estimation of the clinical duration is often unreliable. The patient eventually becomes aware of a swelling or a mass and reports this finding to the physician. Patients may report the following: Associated episode of trauma to the region containing the mass Painful swelling (occurs in one third of cases for as long as 6 mo) Decreased function (ie, range of motion) Numbness Enlargement of varicose veins Fatigue Abdominal pain Weight loss Nausea Vomiting 

MalaCards based summary : Liposarcoma is related to myxoid liposarcoma and cellular myxoid liposarcoma. An important gene associated with Liposarcoma is FUS (FUS RNA Binding Protein), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drugs Mechlorethamine and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and adipocyte, and related phenotypes are nausea and vomiting and fatigue

Disease Ontology : 12 A lipomatous cancer that arises in fat cells in deep soft tissue retroperitoneum.

Wikipedia : 76 Liposarcoma is a cancer that arises in fat cells in deep soft tissue, such as that inside the thigh or... more...

Related Diseases for Liposarcoma

Diseases in the Liposarcoma family:

Adult Liposarcoma Inflammatory Liposarcoma

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

(show top 50) (show all 299)
# Related Disease Score Top Affiliating Genes
1 myxoid liposarcoma 33.7 CDK4 DDIT3 EWSR1 FUS HMGA2 LRP1
2 cellular myxoid liposarcoma 33.5 CDK4 EWSR1 FUS MDM2
3 pleomorphic liposarcoma 33.4 CDKN2A DES MDM2 VIM
4 well-differentiated liposarcoma 33.2 CDK4 CDKN2A HMGA2 MDM2 TSPAN31
5 dedifferentiated liposarcoma 33.0 CDK4 CDKN2A DES HMGA2 MB MDM2
6 mixed liposarcoma 33.0 CD34 CDK4 DDIT3 FUS MB MDM2
7 sclerosing liposarcoma 33.0 CD34 FUS MB MDM2 TP53
8 spindle cell liposarcoma 33.0 CALB2 CD34 CDK4 DDIT3 MDM2
9 atypical lipomatous tumor 32.2 CDK4 CDKN2A FUS HMGA2 MDM2 TSPAN31
10 pleomorphic lipoma 30.8 HMGA2 MDM2
11 sarcoma 30.6 CDK4 DDIT3 EWSR1 FUS MDM2 TP53
12 malignant fibroxanthoma 30.5 CDK4 DES MDM2 VIM
13 fibrous histiocytoma 30.4 DES EWSR1 FUS VIM
14 myxofibrosarcoma 30.4 DES FUS
15 lipomatosis, multiple 30.3 CDK4 DES FUS HMGA2 MDM2
16 hemangiopericytoma, malignant 30.2 DES MDM2 VIM
17 mesenchymoma 30.2 DES HMGA2 MB MDM2
18 li-fraumeni syndrome 30.2 CDKN2A MDM2 TP53
19 leiomyosarcoma 30.1 CDK4 DES MB MDM2 TP53 VIM
20 angiolipoma 30.1 DES VIM
21 soft tissue sarcoma 30.1 EWSR1 MDM2 TP53
22 histiocytoma 30.0 EWSR1 FUS MB MDM2 TP53 TSPAN31
23 spindle cell lipoma 30.0 CDK4 DES MDM2 VIM
24 infiltrating lipoma 30.0 CD34 CDK4 HMGA2 MDM2
25 spindle cell sarcoma 30.0 DES MDM2 VIM
26 carcinosarcoma 29.9 DES TP53 VIM
27 retinoblastoma 29.9 CDK4 CDKN2A MDM2 TP53
28 sarcomatosis 29.9 EWSR1 HMGA2
29 malignant mesenchymoma 29.9 CDK4 DES EWSR1 MB MDM2 TP53
30 malignant peripheral nerve sheath tumor 29.9 CDK4 CDKN2A MDM2 TP53 VIM
31 leiomyoma 29.9 CD34 DES HMGA2 VIM
32 retroperitoneal fibrosis 29.9 MDM2 VIM
33 cutaneous leiomyosarcoma 29.8 DES VIM
34 chondroid lipoma 29.8 CDK4 DDIT3 FUS MDM2
35 inflammatory myofibroblastic tumor 29.7 CDK4 DES MDM2 TP53 VIM
36 rhabdomyosarcoma 29.7 CDK4 DES EWSR1 MB MDM2 TP53
37 pleomorphic adenoma 29.7 HMGA2 MDM2 TP53 VIM
38 sarcoma, synovial 29.6 CALB2 DES HMGA2 MDM2 VIM
39 gastrointestinal stromal tumor 29.5 CD34 CDKN2A DES TP53 VIM
40 myxoid liposarcoma of the ovary 12.4
41 mediastinum liposarcoma 12.3
42 larynx liposarcoma 12.3
43 kidney liposarcoma 12.3
44 retroperitoneal liposarcoma 12.2
45 gastric liposarcoma 12.2
46 breast liposarcoma 12.1
47 inflammatory liposarcoma 12.1
48 liposarcoma of the ovary 12.1
49 esophagus liposarcoma 12.1
50 cutaneous liposarcoma 12.1

Graphical network of the top 20 diseases related to Liposarcoma:



Diseases related to Liposarcoma

Symptoms & Phenotypes for Liposarcoma

Human phenotypes related to Liposarcoma:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nausea and vomiting 32 occasional (7.5%) HP:0002017
2 fatigue 32 occasional (7.5%) HP:0012378
3 subcutaneous nodule 32 hallmark (90%) HP:0001482
4 abdominal pain 32 occasional (7.5%) HP:0002027
5 weight loss 32 occasional (7.5%) HP:0001824
6 paresthesia 32 occasional (7.5%) HP:0003401
7 abnormality of the kidney 32 occasional (7.5%) HP:0000077
8 sarcoma 32 hallmark (90%) HP:0100242
9 varicose veins 32 occasional (7.5%) HP:0002619

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

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.12 VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.12 FUS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.12 TP53
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.12 TP53
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.12 TP53
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.12 VIM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.12 FUS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.12 TP53
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.12 VIM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.12 VIM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.12 VIM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.12 TP53
13 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.12 FUS PPARG TP53 VIM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.12 FUS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.12 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-3 10.12 FUS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.12 VIM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.12 TP53
19 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.12 PPARG
20 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.12 FUS TP53
21 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.12 FUS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.12 VIM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.12 FUS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.12 FUS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.12 VIM
26 Reduced mammosphere formation GR00396-S 9.17 CD34 CDK4 DDIT3 DES MDM2 PPARG

MGI Mouse Phenotypes related to Liposarcoma:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 CD34 CDK4 CDKN2A DDIT3 DES LRP1
2 behavior/neurological MP:0005386 10.25 CALB2 CDK4 CDKN2A DDIT3 DES LRP1
3 cardiovascular system MP:0005385 10.24 CDK4 CDKN2A DDIT3 DES LRP1 MB
4 homeostasis/metabolism MP:0005376 10.22 CD34 CDK4 CDKN2A DDIT3 DES LRP1
5 hematopoietic system MP:0005397 10.21 CD34 CDK4 CDKN2A DDIT3 LRP1 MB
6 embryo MP:0005380 10.11 CDK4 CDKN2A LRP1 MB MDM2 PPARG
7 immune system MP:0005387 10.07 CD34 CDK4 CDKN2A DDIT3 LRP1 MDM2
8 integument MP:0010771 9.92 CD34 CDK4 CDKN2A LRP1 MDM2 PPARG
9 liver/biliary system MP:0005370 9.86 CDK4 CDKN2A DDIT3 LRP1 MDM2 PPARG
10 muscle MP:0005369 9.81 CDK4 CDKN2A DES LRP1 MB MDM2
11 neoplasm MP:0002006 9.5 CD34 CDK4 CDKN2A DDIT3 MDM2 PPARG
12 nervous system MP:0003631 9.32 CALB2 CDK4 CDKN2A DDIT3 LRP1 MDM2

Drugs & Therapeutics for Liposarcoma

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 51-75-2 4033
2
Ifosfamide Approved Phase 3,Phase 2,Phase 1,Not Applicable 3778-73-2 3690
3
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
4
Dacarbazine Approved, Investigational Phase 3,Phase 2 4342-03-4 5351166
5
Trabectedin Approved, Investigational Phase 3,Phase 2,Phase 1 114899-77-3 108150
6
Lenograstim Approved, Investigational Phase 3,Phase 2 135968-09-1
7
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
8
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 38904 498142
9
Dactinomycin Approved, Investigational Phase 3,Phase 2 50-76-0 457193 2019
10
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 6055-19-2, 50-18-0 2907
11
Vincristine Approved, Investigational Phase 3,Phase 2 57-22-7, 2068-78-2 5978
12
Epirubicin Approved Phase 3,Phase 2 56420-45-2 41867
13
Docetaxel Approved, Investigational Phase 3,Phase 2 114977-28-5 148124
14
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
15 Olaratumab Approved, Investigational Phase 3,Phase 2 1024603-93-7
16
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
17
Cyproheptadine Approved Phase 3 129-03-3 2913
18
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1,Not Applicable 31703
19
Isophosphamide mustard Phase 3,Phase 2,Phase 1,Not Applicable 0
20 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable
21 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
22 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Not Applicable
23 Alkylating Agents Phase 3,Phase 2,Phase 1,Not Applicable
24 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
25 Pharmaceutical Solutions Phase 3
26 Etoposide phosphate Phase 3,Phase 2
27 Antineoplastic Agents, Phytogenic Phase 3,Phase 2
28 Immunologic Factors Phase 3,Phase 2,Phase 1
29 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
30 Antimitotic Agents Phase 3,Phase 2
31 Antirheumatic Agents Phase 3,Phase 2,Phase 1
32 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
33 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
34 Antiviral Agents Phase 3,Phase 2,Phase 1,Not Applicable
35 Antimetabolites Phase 3,Phase 2,Phase 1
36 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
37 Gastrointestinal Agents Phase 3,Phase 2
38 Serotonin Agents Phase 3
39 Anti-Allergic Agents Phase 3
40 Serotonin Antagonists Phase 3
41 Histamine H1 Antagonists Phase 3
42
Histamine Phosphate Phase 3 51-74-1 65513
43 Antipruritics Phase 3
44 Neurotransmitter Agents Phase 3
45 Dermatologic Agents Phase 3
46 Histamine Antagonists Phase 3
47
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
48
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
49
Palbociclib Approved, Investigational Phase 2,Phase 1 571190-30-2 11431660 5330286 5005498
50
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3

Interventional clinical trials:

(show top 50) (show all 129)
# Name Status NCT ID Phase Drugs
1 Surgery With or Without Radiation Therapy in Untreated Nonmetastatic Retroperitoneal Sarcoma Unknown status NCT01344018 Phase 3
2 Ifosfamide and Doxorubicin, Radiation Therapy, and/or Surgery in Treating Young Patients With Localized Soft Tissue Sarcoma Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
3 A Study of Trabectedin or Dacarbazine for the Treatment of Patients With Advanced Liposarcoma or Leiomyosarcoma Completed NCT01343277 Phase 3 Trabectedin;Dacarbazine
4 A Study of Trabectedin (YONDELIS) in Patients With Locally Advanced or Metastatic Liposarcoma or Leiomyosarcoma Completed NCT01692678 Phase 3 Trabectedin;Dacarbazine
5 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
6 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
7 Ifosfamide or Doxorubicin in Treating Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00003212 Phase 3 doxorubicin hydrochloride;ifosfamide
8 Combination Chemotherapy With or Without Hyperthermia Therapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00003052 Phase 3 doxorubicin hydrochloride;etoposide;ifosfamide
9 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
10 Doxorubicin With or Without Ifosfamide and Pegfilgrastim in Treating Patients With Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00061984 Phase 3 doxorubicin hydrochloride;ifosfamide
11 Surgery With or Without Radiation Therapy in Treating Patients With Primary Soft Tissue Sarcoma of the Retroperitoneum or Pelvis Completed NCT00091351 Phase 3
12 Surgery Followed by Chemotherapy in Treating Young Patients With Soft Tissue Sarcoma Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
13 Selinexor in Advanced Liposarcoma Recruiting NCT02606461 Phase 2, Phase 3 Selinexor;Placebo
14 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)
15 A Study of Doxorubicin Plus Olaratumab (LY3012207) in Participants With Advanced or Metastatic Soft Tissue Sarcoma Active, not recruiting NCT02451943 Phase 3 Olaratumab;Doxorubicin;Placebo
16 Randomised Trial of Volume of Post-operative Radiotherapy Given to Adult Patients With eXtremity Soft Tissue Sarcoma Active, not recruiting NCT00423618 Phase 3
17 Study on Leiomyosarcoma, Liposarcomas and Synovial Sarcoma With Trabectedin Not yet recruiting NCT03773510 Phase 3 Trabectedin discontinuation;Trabectedin continuation
18 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Suspended NCT02180867 Phase 2, Phase 3 Doxorubicin Hydrochloride;Ifosfamide;Pazopanib Hydrochloride
19 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
20 Brostallicin Clinical Trial for Myxoid Liposarcoma Unknown status NCT00633165 Phase 2 Brostallicin
21 A Phase II Study Assessing Efficacy & Safety of Ribociclib in Patients With Advanced Well/Dedifferentiated Liposarcoma Unknown status NCT02571829 Phase 2 ribociclib
22 Trial of Nilotinib and Adriamycin as Treatment in Liposarcomas and Leiomyosarcomas of Retroperitoneum Unknown status NCT02587169 Phase 1, Phase 2 Nilotinib-adriamycin
23 Brostallicin or Doxorubicin as First-Line Therapy in Treating Patients With Relapsed, Refractory, or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
24 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2 temozolomide
25 Study of Pazopanib in the Treatment of Surgically Unresectable or Metastatic Liposarcoma Completed NCT01506596 Phase 2 pazopanib
26 Activity and Tolerability of Pazopanib in Advanced and/or Metastatic Liposarcoma. A Phase II Clinical Trial Completed NCT01692496 Phase 2 Pazopanib
27 PD0332991 (Palbociclib) in Patients With Advanced or Metastatic Liposarcoma Completed NCT01209598 Phase 2 Palbociclib 200mg;Palbociclib 125mg
28 Safety and Efficacy Study of Trabectedin for the Treatment of Localized Myxoid / Round Cell Liposarcoma Completed NCT00579501 Phase 2 Trabectedin;Dexamethasone
29 Rosiglitazone in Treating Patients With Liposarcoma Completed NCT00004180 Phase 2 rosiglitazone maleate
30 Troglitazone in Treating Patients With Liposarcoma Completed NCT00003058 Phase 2 troglitazone
31 A Study to Assess Treatment With 2 Different Dosing Schedules of Trabectidin Administered to Patients With Advanced Cancer Completed NCT00060944 Phase 2 Yondelis;Yondelis;Dexamethasone;Dexamethasone
32 Phase II Study of Sunitinib Malate for Metastatic and/or Surgically Unresectable Soft Tissue Sarcoma Completed NCT00400569 Phase 2 Sunitinib Malate (SU011248)
33 A Study of R1507 in Participants With Recurrent or Refractory Sarcoma Completed NCT00642941 Phase 2 RG1507
34 Study of Doxorubicin and Trabectedin in First Line Treatment on Patients With Metastatic Leiomyosarcoma Completed NCT02131480 Phase 2 Doxorubicin;Trabectedin
35 Activity of Trabectedin or Gemcitabine + Docetaxel in Uterine Leiomyosarcoma Completed NCT02249702 Phase 2 gemcitabine + docetaxel;trabectedin
36 Study of AP23573/MK-8669 (Ridaforolimus), A Mammalian Target of Rapamycin (mTOR) Inhibitor, in Participants With Advanced Sarcoma (MK-8669-018 AM1)(COMPLETED) Completed NCT00093080 Phase 2 ridaforolimus
37 Bevacizumab and Radiation Therapy for Sarcomas Completed NCT00356031 Phase 2 Bevacizumab
38 Alisertib in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01653028 Phase 2 Alisertib
39 AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
40 Cixutumumab and Temsirolimus in Treating Younger Patients With Recurrent or Refractory Sarcoma Completed NCT01614795 Phase 2 Temsirolimus
41 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
42 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2 romidepsin
43 Safety and Efficacy Study of Torisel and Liposomal Doxorubicin for Patients With Recurrent Sarcoma Completed NCT00949325 Phase 1, Phase 2 temsirolimus (Torisel) plus liposomal doxorubicin (Doxil)
44 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
45 S0505 Sorafenib in Treating Patients With Advanced Soft Tissue Sarcomas Completed NCT00217620 Phase 2 sorafenib
46 Soblidotin in Treating Patients With Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00064220 Phase 2 soblidotin
47 Ecteinascidin 743 in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00003939 Phase 2 trabectedin
48 STI571 in Treating Patients With Recurrent or Refractory Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
49 Brostallicin in Treating Patients With Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00041249 Phase 2 brostallicin
50 Exatecan Mesylate in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00041236 Phase 2 exatecan mesylate

Search NIH Clinical Center for Liposarcoma

Cochrane evidence based reviews: liposarcoma

Genetic Tests for Liposarcoma

Anatomical Context for Liposarcoma

MalaCards organs/tissues related to Liposarcoma:

41
Bone, Breast, Adipocyte, Skin, Kidney, T Cells, Liver

Publications for Liposarcoma

Articles related to Liposarcoma:

(show top 50) (show all 1708)
# Title Authors Year
1
Dedifferentiated Liposarcoma Occurring in the Right Pulmonary Hilum. ( 29491279 )
2018
2
Tumor-targeting Salmonella typhimurium A1-R arrests a doxorubicin-resistant PDGFRA-amplified patient-derived orthotopic xenograft mouse model of pleomorphic liposarcoma. ( 29932244 )
2018
3
Dedifferentiated Liposarcoma With Rhabdomyosarcomatous Differentiation Producing HCG: A Case Report of a Diagnostic Pitfall. ( 29532681 )
2018
4
Arginine methylation of translocated in liposarcoma (TLS) inhibits its binding to long noncoding RNA, abrogating TLS-mediated repression of CBP/p300 activity. ( 29784880 )
2018
5
Amplification of FRS2 in atypical lipomatous tumour/well -differentiated liposarcoma and dedifferentiated liposarcoma: a clinicopathological and genetic study of 146 cases. ( 29368794 )
2018
6
Corrigendum to "Pericytic mimicry in well-differentiated liposarcoma/atypical lipomatous tumor" (Hum Pathol 2016;54:92-99). ( 29958690 )
2018
7
Primary endobronchial liposarcoma successfully resected via bronchoscopy: A rare case report with genetic analysis. ( 29963153 )
2018
8
Dedifferentiated liposarcoma of the oral floor: A case study and literature review of 50 cases of head and neck neoplasm. ( 29740489 )
2018
9
A retrospective, single-center cohort study on 65 patients with primary retroperitoneal liposarcoma. ( 29434876 )
2018
10
A rare case of primary small bowel de-differentiated liposarcoma causing intussusception: A case report. ( 29901613 )
2018
11
Whole blood miRNA expression analysis reveals miR-3613-3p as a potential biomarker for dedifferentiated liposarcoma. ( 29689704 )
2018
12
Giant Primary Retroperitoneal Dedifferentiated Liposarcoma. ( 29959642 )
2018
13
Pleomorphic liposarcoma: An analysis of 6 case reports and literature review. ( 29465602 )
2018
14
Well-Differentiated Liposarcoma (Atypical Lipomatous Tumor) Presenting as an Esophageal Polyp. ( 29349606 )
2018
15
Myxoid liposarcoma: local relapse and metastatic pattern in 43 patients. ( 29558901 )
2018
16
Pleomorphic liposarcoma of bone: a rare primary malignant bone tumour. ( 29449935 )
2018
17
Extensive renal sinus lipomatosis in xanthogranulomatous pyelonephritis simulating liposarcoma. ( 29522292 )
2018
18
Simultaneous pulmonary and inferior vena cava tumor thromboembolism secondary to retroperitoneal pleomorphic liposarcoma. ( 29550849 )
2018
19
Mosaic-pattern dedifferentiation in liposarcoma and chondrosarcoma: imaging features of an uncommon form of dedifferentiation. ( 29362843 )
2018
20
FUS-CHOP Promotes Invasion in Myxoid Liposarcoma through a SRC/FAK/RHO/ROCK-Dependent Pathway. ( 29190494 )
2018
21
Acute haemorrhage from a retroperitoneal liposarcoma: a rare presentation. ( 29437802 )
2018
22
The clinical behavior of well differentiated liposarcoma can be extremely variable: A retrospective cohort study at a major sarcoma center. ( 29723411 )
2018
23
Single metastasis of myxoid liposarcoma from the thigh to thyroid gland: a case report. ( 29587757 )
2018
24
Extended surgery using anterior mediastinal tracheostomy for recurrent mediastinal liposarcoma. ( 29415198 )
2018
25
Second Primary Malignancies in Patients with Well-differentiated/Dedifferentiated Liposarcoma. ( 29848707 )
2018
26
Primary meningeal myxoid liposarcoma with aggressive behavior after recurrence: case report. ( 29915889 )
2018
27
Surgery for Abdominal Well-Differentiated Liposarcoma. ( 29335908 )
2018
28
Clarifying the Distinction Between Malignant Peripheral Nerve Sheath Tumor and Dedifferentiated Liposarcoma: A Critical Reappraisal of the Diagnostic Utility of MDM2 and H3K27me3 Status. ( 29309298 )
2018
29
Hibernation of masses suspected to be remnant tumors after surgical resection of retroperitoneal liposarcoma is related to improved overall survival. ( 29352382 )
2018
30
Complete Remission of Recurrent Retroperitoneal Liposarcoma after the Administration of Gemcitabine and Docetaxel as First-Line Adjuvant Chemotherapy: A Case Report. ( 29928214 )
2018
31
Successful resection of a giant thoracic myxoid liposarcoma. ( 29667901 )
2018
32
Devascularization of the superior mesenteric vein without reconstruction during surgery for retroperitoneal liposarcoma: A case report and review of literature. ( 29904248 )
2018
33
A dedifferentiated liposarcoma with inflammatory myofibroblastic tumor-like features. ( 29446522 )
2018
34
Gastric liposarcoma in a patient with severe obesity. ( 29484946 )
2018
35
The potential of the CMB305 vaccine regimen to target NY-ESO-1 and improve outcomes for synovial sarcoma and myxoid/round cell liposarcoma patients. ( 29280411 )
2018
36
Dedifferentiated retroperitoneal liposarcoma spontaneously occurring in an aged SD rat. ( 29750003 )
2018
37
Cerebral Liposarcoma Embolus From Heart Metastasis Successfully Treated by Endovascular Extraction Followed by Cardiac Surgery. ( 29940813 )
2018
38
Metaplastic Breast Cancer Masquerading as Liposarcoma of the Breast: A Case Report following Oncoplastic Treatment. ( 29788010 )
2018
39
Primary Breast Atypical Lipomatous Tumor/ Well-Differentiated Liposarcoma and Dedifferentiated Liposarcoma. ( 29372852 )
2018
40
Myxoid Liposarcoma: Prognostic Factors and Metastatic Pattern in a Series of 148 Patients Treated at a Single Institution. ( 29977616 )
2018
41
Pazopanib-induced crystal deposition in intestinal mucosa in a patient with retroperitoneal liposarcoma. ( 29651797 )
2018
42
Infiltration characteristics and influencing factors of retroperitoneal liposarcoma: Novel evidence for extended surgery and a tumor grading system. ( 29657244 )
2018
43
Dedifferentiated liposarcoma composed predominantly of rhabdoid/epithelioid cells: a frequently misdiagnosed highly aggressive variant. ( 29307627 )
2018
44
Lipoblastoma-like Tumor of the Vulva, an Important Benign Mimic of Myxoid Liposarcoma. ( 29300200 )
2018
45
Inflammatory calcified de-differentiated liposarcoma of the anterior mediastinum: an unusual case. ( 29885206 )
2018
46
Identification of inhibitors regulating cell proliferation and FUS-DDIT3 expression in myxoid liposarcoma using combined DNA, mRNA, and protein analyses. ( 29588491 )
2018
47
Salvage Surgery for Recurrent Retroperitoneal Well-Differentiated Liposarcoma: Early Reoperation may not Provide Benefit. ( 29520652 )
2018
48
High expression of fibroblast growth factor-21 in liposarcoma patients indicated better prognosis and less recurrence. ( 29953859 )
2018
49
Targeted next generation sequencing of well-differentiated/dedifferentiated liposarcoma reveals novel gene amplifications and mutations. ( 29731991 )
2018
50
Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin. ( 29610390 )
2018

Variations for Liposarcoma

Cosmic variations for Liposarcoma:

9 (show top 50) (show all 219)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6978413 ZFHX3 soft tissue,fat,liposarcoma,myxoid-round cell c.448C>A p.L150M 16:72959698-72959698 12
2 COSM3054546 XPO1 soft tissue,fat,liposarcoma,myxoid-round cell c.1288G>T p.V430L 2:61493011-61493011 12
3 COSM6987297 WT1 soft tissue,fat,liposarcoma,myxoid-round cell c.223G>A p.E75K 11:32434919-32434919 12
4 COSM6986268 TSC1 soft tissue,fat,liposarcoma,myxoid-round cell c.1079C>A p.T360N 9:132911064-132911064 12
5 COSM11333 TP53 soft tissue,fat,liposarcoma,myxoid-round cell c.499C>T p.Q167* 17:7675113-7675113 12
6 COSM10648 TP53 soft tissue,fat,liposarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 12
7 COSM10672 TP53 soft tissue,fat,liposarcoma,pleomorphic c.577C>T p.H193Y 17:7674954-7674954 12
8 COSM10647 TP53 soft tissue,fat,liposarcoma,pleomorphic c.404G>T p.C135F 17:7675208-7675208 12
9 COSM10656 TP53 soft tissue,fat,liposarcoma,pleomorphic c.742C>T p.R248W 17:7674221-7674221 12
10 COSM45794 TP53 soft tissue,fat,liposarcoma,pleomorphic c.421T>G p.C141G 17:7675191-7675191 12
11 COSM44112 TP53 soft tissue,fat,liposarcoma,myxoid-round cell c.640C>T p.H214Y 17:7674891-7674891 12
12 COSM43632 TP53 soft tissue,fat,liposarcoma,pleomorphic c.493C>T p.Q165* 17:7675119-7675119 12
13 COSM10731 TP53 soft tissue,fat,liposarcoma,pleomorphic c.707A>G p.Y236C 17:7674256-7674256 12
14 COSM6848516 TET2 soft tissue,fat,liposarcoma,myxoid-round cell c.3809C>T p.T1270I 4:105259624-105259624 12
15 COSM6921522 SDHA soft tissue,fat,liposarcoma,myxoid-round cell c.664T>G p.L222V 5:228227-228227 12
16 COSM1437480 RICTOR soft tissue,fat,liposarcoma,pleomorphic c.3404C>T p.T1135M 5:38950444-38950444 12
17 COSM1651764 RB1 soft tissue,fat,liposarcoma,pleomorphic c.1818T>A p.Y606* 13:48456207-48456207 12
18 COSM6966300 RB1 soft tissue,fat,liposarcoma,pleomorphic c.2632G>A p.D878N 13:48476812-48476812 12
19 COSM6906362 RAF1 soft tissue,fat,liposarcoma,pleomorphic c.1141G>A p.D381N 3:12591760-12591760 12
20 COSM5106 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.335T>C p.L112P 10:87933094-87933094 12
21 COSM5135 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.106G>A p.G36R 10:87894051-87894051 12
22 COSM5039 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.518G>A p.R173H 10:87952143-87952143 12
23 COSM1167954 PTEN soft tissue,fat,liposarcoma,myxoid-round cell c.485A>T p.D162V 10:87933244-87933244 12
24 COSM3416650 POLE soft tissue,fat,liposarcoma,myxoid-round cell c.2275C>T p.R759C 12:132667547-132667547 12
25 COSM6987724 PLK2 soft tissue,fat,liposarcoma,myxoid-round cell c.1337G>C p.R446P 5:58456073-58456073 12
26 COSM763 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.1633G>A p.E545K 3:179218303-179218303 12
27 COSM760 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.1624G>A p.E542K 3:179218294-179218294 12
28 COSM754 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.1035T>A p.N345K 3:179203765-179203765 12
29 COSM12597 PIK3CA soft tissue,fat,liposarcoma,myxoid-round cell c.3145G>C p.G1049R 3:179234302-179234302 12
30 COSM6903888 NOTCH2 soft tissue,fat,liposarcoma,myxoid-round cell c.5857C>T p.R1953C 1:119918478-119918478 12
31 COSM24452 NF1 soft tissue,fat,liposarcoma,pleomorphic c.1105C>T p.Q369* 17:31201079-31201079 12
32 COSM28019 NF1 soft tissue,fat,liposarcoma,pleomorphic c.4006C>T p.Q1336* 17:31249015-31249015 12
33 COSM6987300 NCOR1 soft tissue,fat,liposarcoma,myxoid-round cell c.4256C>T p.P1419L 17:16070422-16070422 12
34 COSM175679 MUTYH soft tissue,fat,liposarcoma,myxoid-round cell c.536G>A p.R179H 1:45332794-45332794 12
35 COSM6978412 MUTYH soft tissue,fat,liposarcoma,myxoid-round cell c.1022C>T p.P341L 1:45331816-45331816 12
36 COSM6987286 MLH1 soft tissue,fat,liposarcoma,myxoid-round cell c.2146G>A p.V716M 3:37050528-37050528 12
37 COSM517 KRAS soft tissue,fat,liposarcoma,myxoid-round cell c.34G>A p.G12S 12:25245351-25245351 12
38 COSM6906365 KMT2C soft tissue,fat,liposarcoma,pleomorphic c.12200C>A p.P4067H 7:152154086-152154086 12
39 COSM6906367 KMT2A soft tissue,fat,liposarcoma,pleomorphic c.8086C>T p.R2696* 11:118503987-118503987 12
40 COSM6924116 KMT2A soft tissue,fat,liposarcoma,myxoid-round cell c.5783G>T p.G1928V 11:118498063-118498063 12
41 COSM1651756 KIT soft tissue,fat,liposarcoma,myxoid-round cell c.2334G>C p.K778N 4:54731971-54731971 12
42 COSM216207 KDM6A soft tissue,fat,liposarcoma,pleomorphic c.3768C>G p.Y1256* 23:45090754-45090754 12
43 COSM1645298 JAK1 soft tissue,fat,liposarcoma,pleomorphic c.1595G>A p.R532H 1:64855562-64855562 12
44 COSM6987289 GATA2 soft tissue,fat,liposarcoma,myxoid-round cell c.436G>A p.G146S 3:128486162-128486162 12
45 COSM6664414 FLCN soft tissue,fat,liposarcoma,pleomorphic c.247G>A p.E83K 17:17227891-17227891 12
46 COSM6934579 FAT1 soft tissue,fat,liposarcoma,pleomorphic c.2806G>A p.V936I 4:186707022-186707022 12
47 COSM6934578 FAT1 soft tissue,fat,liposarcoma,pleomorphic c.2806G>A p.V936I 4:186707022-186707022 12
48 COSM6906369 ERBB2 soft tissue,fat,liposarcoma,pleomorphic c.2441G>A p.R814H 17:39724859-39724859 12
49 COSM1056635 EPHA5 soft tissue,fat,liposarcoma,pleomorphic c.1702G>A p.D568N 4:65404462-65404462 12
50 COSM6987287 EPCAM soft tissue,fat,liposarcoma,myxoid-round cell c.457A>G p.R153G 2:47375265-47375265 12

Copy number variations for Liposarcoma from CNVD:

7 (show all 36)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13334 1 1 124300000 Gain Liposarcoma
2 16445 1 124300000 247249719 Loss Liposarcoma
3 20078 1 15300000 163800000 Amplification COAS1 Liposarcoma
4 20079 1 15300000 163800000 Amplification COAS2 Liposarcoma
5 20080 1 15300000 163800000 Amplification COAS3 Liposarcoma
6 20084 1 15300000 212100000 Gain Liposarcoma
7 42815 10 40300000 135374737 Loss Liposarcoma
8 55437 11 52900000 134452384 Loss Liposarcoma
9 61489 12 1 14800000 Loss Liposarcoma
10 67172 12 37282278 37312244 Amplified CHOP Liposarcoma
11 67787 12 44600000 69800000 Gain CDK4 liposarcomas
12 67788 12 44600000 69800000 Gain HMGA2 liposarcomas
13 67789 12 44600000 69800000 Gain MDM2 liposarcomas
14 69651 12 56140200 56152312 Amplified GLI1 Liposarcoma
15 69861 12 56374152 56401607 Amplified OS9 Liposarcoma
16 69873 12 56425050 56428293 Amplified TSPAN31 Liposarcoma
17 69880 12 56428269 56432431 Amplified CDK4 Liposarcoma
18 70737 12 64503703 64646338 Amplified HMGA2 Liposarcoma
19 71088 12 67488246 67520481 Amplified MDM2 Liposarcoma
20 77049 13 39500000 52200000 Loss Liposarcoma
21 77649 13 46200000 52200000 Deletion RB1 Liposarcoma
22 78496 13 52200000 114142980 Loss Liposarcoma
23 106733 17 1 11200000 Deletion Liposarcoma
24 108852 17 23200000 28800000 Deletion Liposarcoma
25 139560 2 183406981 183439743 Amplified OS1 Liposarcoma
26 149783 2 93300000 242951149 Gain Liposarcoma
27 149786 2 93300000 242951149 Loss Liposarcoma
28 166153 3 1 91700000 Gain Liposarcoma
29 166161 3 1 91700000 Loss Liposarcoma
30 179460 3 91700000 199501827 Gain Liposarcoma
31 187537 4 50700000 191273063 Loss Liposarcoma
32 191663 5 1 45800000 Gain Liposarcoma
33 200009 5 47700000 180857866 Gain Liposarcoma
34 210239 6 29900000 45200000 Gain Liposarcoma
35 217105 7 1 59100000 Gain Liposarcoma
36 225569 7 47600000 107200000 Gain Liposarcoma

Expression for Liposarcoma

Search GEO for disease gene expression data for Liposarcoma.

Pathways for Liposarcoma

Pathways related to Liposarcoma according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 CDK4 CDKN2A MDM2 PPARG TP53
2 12.71 CDK4 CDKN2A MDM2 PPARG TP53
3 12.31 CDK4 CDKN2A GPS2 TP53
4 12.31 CDKN2A HMGA2 MDM2 TP53 VIM
5 12.27 CDK4 CDKN2A MDM2 TP53 VIM
6
Show member pathways
12.25 CDK4 CDKN2A MDM2 TP53
7 12.24 CDK4 CDKN2A MDM2 TP53
8 12.15 CDK4 MDM2 TP53 VIM
9 12.14 CDK4 CDKN2A MDM2 TP53
10 12.11 DDIT3 EWSR1 FUS YBX1
11 11.98 CDK4 CDKN2A MDM2 TP53
12 11.82 CDKN2A MDM2 TP53
13 11.73 CDK4 MDM2 TP53
14 11.71 CDK4 CDKN2A MDM2 TP53
15 11.61 CDKN2A MDM2 TP53
16
Show member pathways
11.6 CDKN2A MDM2 TP53
17 11.44 DDIT3 EWSR1 FUS HMGA2 MDM2 PPARG
18 11.42 CDKN2A MDM2 TP53
19 11.33 CDK4 MDM2 TP53
20 11.32 CDK4 CDKN2A MDM2 TP53
21 11.28 CDK4 MDM2 TP53
22 10.84 CDKN2A MDM2 TP53
23
Show member pathways
10.78 CDKN2A MDM2 TP53
24 10.76 CDK4 CDKN2A MDM2 TP53

GO Terms for Liposarcoma

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.86 CALB2 CD34 CDK4 CDKN2A DDIT3 DES
2 nucleus GO:0005634 9.53 CALB2 CDK4 CDKN2A DDIT3 DES EWSR1
3 senescence-associated heterochromatin focus GO:0035985 9.16 CDKN2A HMGA2
4 cytosol GO:0005829 10.07 CALB2 CDK4 CDKN2A DDIT3 DES GPS2
5 nucleoplasm GO:0005654 10.02 CDK4 CDKN2A DDIT3 FUS GPS2 HMGA2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 DDIT3 GPS2 HMGA2 MDM2 PPARG TP53
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 CDKN2A DDIT3 GPS2 HMGA2 PPARG TP53
3 negative regulation of transcription, DNA-templated GO:0045892 9.73 CDKN2A DDIT3 HMGA2 MDM2 PPARG TP53
4 positive regulation of apoptotic process GO:0043065 9.72 CDK4 CDKN2A HMGA2 PPARG TP53
5 negative regulation of neuron projection development GO:0010977 9.61 LRP1 MDM2 VIM
6 positive regulation of cholesterol efflux GO:0010875 9.55 GPS2 LRP1
7 replicative senescence GO:0090399 9.54 CDKN2A TP53
8 ER overload response GO:0006983 9.52 DDIT3 TP53
9 negative regulation of telomerase activity GO:0051974 9.51 PPARG TP53
10 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.49 DDIT3 TP53
11 amyloid fibril formation GO:1990000 9.48 CDKN2A MDM2
12 obsolete negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.4 CDK4 CDKN2A
13 cellular response to actinomycin D GO:0072717 9.16 MDM2 TP53
14 positive regulation of gene expression GO:0010628 9.1 CD34 CDKN2A HMGA2 MDM2 TP53 VIM
15 senescence-associated heterochromatin focus assembly GO:0035986 8.96 CDKN2A HMGA2

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 9.56 DDIT3 HMGA2 PPARG TP53
2 identical protein binding GO:0042802 9.56 DES EWSR1 FUS MDM2 PPARG TP53
3 disordered domain specific binding GO:0097718 9.33 CDKN2A MDM2 TP53
4 retinoid X receptor binding GO:0046965 9.32 FUS PPARG
5 transcription factor binding GO:0008134 9.1 CD34 CDKN2A DDIT3 HMGA2 PPARG TP53

Sources for Liposarcoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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