FIF
MCID: DSM004
MIFTS: 65

Desmoid Tumor (FIF)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Desmoid Tumor

MalaCards integrated aliases for Desmoid Tumor:

Name: Desmoid Tumor 12 73 20 43 54 6 15
Familial Infiltrative Fibromatosis 20 43
Aggressive Fibromatosis 20 43
Fibromatosis, Familial Infiltrative 20
Musculo-Aponeurotic Fibromatosis 70
Musculoaponeurotic Fibromatosis 43
Desmoid Disorder, Hereditary 20
Desmoid Disease, Hereditary 70
Hereditary Desmoid Disease 43
Desmoid Type Fibromatosis 20
Desmoid-Type Fibromatosis 17
Fibromatosis, Aggressive 70
Desmoid Fibromatosis 43
Deep Fibromatosis 43
Fif 20

Classifications:



Summaries for Desmoid Tumor

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 873 Definition A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. Epidemiology DTs account for < 3% of soft tissue tumors. Their annual incidence is estimated to range between 1/250,000-1/500,000. They predominantly affect women and can occur between the ages of 15-60 years, but frequently during early adolescence and with a peak age of about 30 years. Clinical description In principle, DTs can occur in any part of the body: extra-abdominally (neck, shoulders, upper limbs, gluteal region), abdominally (originating from muscle fascia or the abdominal/chest wall), and more rarely intra-abdominally in the mesentery or retroperitoneum. Usually, they are firm and smooth palpable masses upon discovery. Depending on the location of the tumor, symptoms may include pain, fever, and functional impairment or loss of function of the organ involved. DTs may appear after surgical resections, typically after caesarian section. Intra-abdominal DTs are often observed in patients with an association of familial adenomatous polyposis (FAP) or Gardner syndrome (see these terms). Etiology DTs result from the proliferation of well-differentiated myofibroblasts. The exact etiopathogenetic mechanism is still unknown, but they seem to have a multi-factorial origin with hormonal and genetic factors being involved. Somatic mutations in the CTNNB1 gene (3q21) encoding beta-catenin have been found in about 85 % of sporadic cases. In cases with FAP, DTs have been associated with mutations in the tumor suppressor gene APC (5q21-q22) encoding the adenomatous polyposis coli protein. Diagnostic methods Initial diagnosis is based on imaging techniques (computed tomography and magnetic resonance imaging ) revealing the presence of an infiltrative growing mass. Diagnosis is confirmed by tumor biopsy showing abundant collagen surrounding elongated spindle-shaped cells containing small and regular nuclei and pale cytoplasm. Immunohistological examination shows expression of muscle cell markers (e.g. actin, desmin, vimentine) and absence of CD34. Moreover, diagnosis can be confirmed by screening for mutations of CTNNB1. Differential diagnosis The differential diagnosis is broad with fibrosarcomas on the one extreme and myofibroblastic processes such as nodular fasciitis and even hypertrophic scars and keloids on the other. The differential diagnosis of intra-abdominal DTs includes gastrointestinal stromal tumors, solitary fibrous tumors, inflammatory myofibroblastic tumors, sclerosing mesenteritis and retroperitoneal fibrosis (see these terms). Genetic counseling Most cases are sporadic. Familial cases (5-10 %) are associated with FAP. Management and treatment Complete surgical resection remains the therapeutic mainstay of DTs. For unresectable tumors or those not amenable to surgical resection with R0 (microscopic tumor clearance) intent or accompanied by an unacceptable function loss, non-surgical treatments comprise radiotherapy, anti- estrogen therapy, non-steroidal anti-inflammatory agents, chemotherapy (e.g. methotrexate, vinblastine/vinorelbine, pegylated liposomal doxorubicin) and/or tyrosine kinase inhibitors (e.g. imatinib, sorafenib). As DTs have a variable and often unpredictable clinical course, a period of watchful waiting is advisable for asymptomatic patients. As DTs often recur, a surveillance strategy every 3-6 months is essential. Prognosis Local recurrence occurs in around 70 % of cases. Prognosis depends on the type of tumor. Life expectancy is normal for abdominal and extra-abdominal tumors. However, it is lower in cases of intra-abdominal DTs due to complications such as intestinal obstruction, hydronephrosis or sepsis. Repeated surgical resections are associated with a greater risk of morbidity.

MalaCards based summary : Desmoid Tumor, also known as familial infiltrative fibromatosis, is related to fibromatosis and rare tumor. An important gene associated with Desmoid Tumor is APC (APC Regulator Of WNT Signaling Pathway), and among its related pathways/superpathways are ERK Signaling and Developmental Biology. The drugs Fentanyl and Sorafenib have been mentioned in the context of this disorder. Affiliated tissues include breast, colon and pancreas, and related phenotypes are subcutaneous nodule and abnormality of the musculature

Disease Ontology : 12 A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs.

MedlinePlus Genetics : 43 A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tumors can occur anywhere in the body. Tumors that form in the abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs.Desmoid tumors are fibrous, much like scar tissue. They are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. These tumors often recur, even after apparently complete removal.The most common symptom of desmoid tumors is pain. Other signs and symptoms, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs.Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic.

Wikipedia : 73 Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors. Desmoid tumors... more...

Related Diseases for Desmoid Tumor

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

(show top 50) (show all 456)
# Related Disease Score Top Affiliating Genes
1 fibromatosis 31.7 CTNNB1 APC ACTC1
2 rare tumor 30.9 KIT ACTC1
3 familial adenomatous polyposis 30.8 PTGS2 MUTYH CTNNB1 CCND1 APC
4 fibroma 30.6 CTNNB1 CD34 ACTC1
5 mesenchymal cell neoplasm 30.4 PDGFRB PDGFRA KIT CD34
6 fibrosarcoma 30.4 SERPINE1 PDGFRA PDGFB KIT ACTC1
7 adenosarcoma 30.4 MKI67 KIT ACTC1
8 sarcoma, synovial 30.4 MKI67 KIT CTNNB1 CD34
9 cholangiocarcinoma 30.3 PTGS2 CTNNB1 CTNNA1 APC
10 spindle cell sarcoma 30.2 KIT CD34 ACTC1
11 intrahepatic cholangiocarcinoma 30.2 CTNNB1 CDH2 CCND1 APC
12 malignant fibrous histiocytoma 30.2 PDGFRB MKI67 ACTC1
13 mastocytosis 30.2 PDGFRB PDGFRA KIT
14 intracranial meningioma 30.2 MKI67 CDKN2A
15 smooth muscle tumor 30.1 KIT CD34 ACTC1
16 fibrous histiocytoma 30.1 KIT CD34 ACTC1
17 teratoma 30.1 KIT CTNNB1 CDKN2A ACTC1
18 in situ carcinoma 30.0 CTNNB1 CDKN2A CCND1
19 mesothelioma, malignant 30.0 PDGFRB CTNNB1 CDKN2A CDH2
20 pseudosarcomatous fibromatosis 30.0 KIT CTNNB1 CD34 ACTC1
21 endometrial stromal sarcoma 29.9 PDGFRB PDGFRA KIT CCND1 ACTC1
22 follicular dendritic cell sarcoma 29.9 KIT CDKN2A CD34
23 familial adenomatous polyposis 2 29.9 PTGS2 MUTYH APC
24 neurilemmoma 29.8 PDGFRB PDGFRA KIT CD34 ACTC1
25 connective tissue benign neoplasm 29.8 PDGFRB PAGR1 KIT CTNNB1 CD34
26 myxofibrosarcoma 29.8 PAGR1 MKI67 KIT CD34
27 pancreatic adenocarcinoma 29.7 PTGS2 KIT CTNNB1 CDKN2A CCND1
28 papilloma 29.7 RB1 PTGS2 CDKN2A CCND1 ACTC1
29 neurofibroma 29.7 PDGFRA KIT CDKN2A CD34 ACTC1
30 myh-associated polyposis 29.7 MUTYH APC
31 renal cell carcinoma, nonpapillary 29.7 PDGFRB PDGFRA MKI67 KIT CTNNA1 CDH2
32 ductal carcinoma in situ 29.6 PTGS2 MKI67 CDKN2A CDH2 CCND1
33 leiomyosarcoma 29.6 RB1 PDGFRB PDGFRA KIT CDKN2A ACTC1
34 hemangioma 29.5 PDGFB KIT CTNNB1 CD34 ACTC1
35 pheochromocytoma 29.5 PDGFRB KIT CDKN2A CDH2 CCND1
36 liposarcoma 29.5 RB1 PDGFRA CTNNB1 CDKN2A CD34 CCND1
37 squamous cell carcinoma 29.5 RB1 PTGS2 MKI67 CTNNB1 CDKN2A CCND1
38 infantile myofibromatosis 29.5 PDGFRB PDGFB CD34 ACTC1
39 leiomyoma 29.5 PDGFRA MKI67 KIT CD34 ACTC1
40 meningioma, familial 29.3 PDGFRB PDGFB MKI67 CDKN2A CD34
41 peripheral nervous system disease 29.3 PTGS2 KIT CTNNB1 CDKN2A CD34 CCND1
42 sarcoma 29.3 RB1 PTGS2 PDGFRA PDGFB KIT CTNNB1
43 gastrointestinal stromal tumor 29.3 PTGS2 PDGFRB PDGFRA MKI67 KIT CDKN2A
44 adenoma 29.3 PTGS2 MUTYH MKI67 CTNNB1 CDKN2A CCND1
45 inflammatory myofibroblastic tumor 29.2 RB1 MKI67 KIT CD34 CCND1 ACTC1
46 lung cancer susceptibility 3 29.2 RB1 PTGS2 CTNNB1 CDKN2A CDH2 CCND1
47 adenocarcinoma 29.2 RB1 PTGS2 PDGFRB KIT CTNNB1 CDKN2A
48 dermatofibrosarcoma protuberans 29.2 PDGFRB PDGFRA PDGFB KIT CDKN2A CD34
49 colorectal adenoma 29.1 PTGS2 MUTYH CTNNB1 CDKN2A CCND1 APC
50 bladder cancer 29.0 RB1 PTGS2 MKI67 CTNNB1 CTNNA1 CDKN2A

Graphical network of the top 20 diseases related to Desmoid Tumor:



Diseases related to Desmoid Tumor

Symptoms & Phenotypes for Desmoid Tumor

Human phenotypes related to Desmoid Tumor:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 subcutaneous nodule 31 hallmark (90%) HP:0001482
2 abnormality of the musculature 31 hallmark (90%) HP:0003011
3 abnormality of the abdominal wall 31 hallmark (90%) HP:0004298
4 desmoid tumors 31 hallmark (90%) HP:0100245
5 malabsorption 31 frequent (33%) HP:0002024
6 abnormality of retinal pigmentation 31 frequent (33%) HP:0007703
7 abdominal pain 31 frequent (33%) HP:0002027
8 myalgia 31 frequent (33%) HP:0003326
9 intestinal polyposis 31 frequent (33%) HP:0200008
10 arthralgia 31 occasional (7.5%) HP:0002829
11 hydronephrosis 31 occasional (7.5%) HP:0000126
12 neoplasm of the skin 31 occasional (7.5%) HP:0008069
13 gastrointestinal hemorrhage 31 occasional (7.5%) HP:0002239
14 chest pain 31 occasional (7.5%) HP:0100749
15 sepsis 31 occasional (7.5%) HP:0100806
16 limitation of joint mobility 31 occasional (7.5%) HP:0001376
17 intestinal obstruction 31 occasional (7.5%) HP:0005214
18 osteolysis 31 occasional (7.5%) HP:0002797

GenomeRNAi Phenotypes related to Desmoid Tumor according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.68 MCM5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.68 APC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.68 CCND1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.68 MCM5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.68 CCND1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.68 RB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.68 MCM5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.68 MCM5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 RB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.68 RB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.68 MCM5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.68 APC
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.68 APC
14 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.68 CCND1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.68 CCND1 RB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.68 CCND1 MCM5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.68 CCND1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 RB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.68 MCM5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 CTNNB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.68 RB1
22 Increased focal adhesion (FA) area, decreased number of small and round FAs, increased peripheral FA formation, increased cell spreading GR00210-A 8.65 CTNNB1

MGI Mouse Phenotypes related to Desmoid Tumor:

46 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 ACTC1 APC CCND1 CD34 CDH2 CDKN2A
2 cardiovascular system MP:0005385 10.47 ACTC1 APC CCND1 CDH2 CDKN2A CTNNA1
3 growth/size/body region MP:0005378 10.46 ACTC1 APC CCND1 CDH2 CDKN2A CTNNA1
4 homeostasis/metabolism MP:0005376 10.44 ACTC1 APC CCND1 CD34 CDH2 CDKN2A
5 mortality/aging MP:0010768 10.44 ACTC1 APC CCND1 CDH2 CDKN2A CTNNA1
6 embryo MP:0005380 10.41 ACTC1 APC CDH2 CDKN2A CTNNA1 CTNNB1
7 hematopoietic system MP:0005397 10.39 ACTC1 APC CCND1 CD34 CDKN2A CTNNB1
8 integument MP:0010771 10.39 AFAP1 APC CCND1 CD34 CDKN2A CTNNA1
9 immune system MP:0005387 10.34 APC CCND1 CD34 CDKN2A CTNNB1 KIT
10 endocrine/exocrine gland MP:0005379 10.33 AFAP1 APC CCND1 CDKN2A CTNNA1 CTNNB1
11 nervous system MP:0003631 10.33 ACTC1 APC CCND1 CDH2 CDKN2A CTNNA1
12 muscle MP:0005369 10.27 ACTC1 APC CDH2 CDKN2A CTNNA1 CTNNB1
13 craniofacial MP:0005382 10.26 ACTC1 APC CCND1 CTNNA1 CTNNB1 KIT
14 digestive/alimentary MP:0005381 10.26 APC CCND1 CDKN2A CTNNB1 KIT PDGFRA
15 neoplasm MP:0002006 10.26 APC CCND1 CD34 CDKN2A CTNNA1 CTNNB1
16 liver/biliary system MP:0005370 10.13 APC CDKN2A CTNNB1 KIT PDGFB PTGS2
17 normal MP:0002873 10.1 ACTC1 APC CCND1 CTNNB1 KIT MKI67
18 no phenotypic analysis MP:0003012 10.09 AFAP1 CDKN2A CTNNB1 KIT MKI67 PDGFB
19 limbs/digits/tail MP:0005371 10.08 APC CTNNA1 CTNNB1 KIT PDGFRA PDGFRB
20 pigmentation MP:0001186 9.97 APC CDKN2A CTNNA1 CTNNB1 KIT PDGFB
21 renal/urinary system MP:0005367 9.97 APC CTNNB1 KIT PDGFB PDGFRA PDGFRB
22 reproductive system MP:0005389 9.96 APC CCND1 CDKN2A CTNNB1 KIT PDGFB
23 respiratory system MP:0005388 9.81 CCND1 CDKN2A CTNNB1 KIT PDGFB PDGFRA
24 skeleton MP:0005390 9.7 APC CCND1 CDKN2A CTNNA1 CTNNB1 KIT
25 vision/eye MP:0005391 9.32 APC CCND1 CDKN2A CTNNA1 CTNNB1 KIT

Drugs & Therapeutics for Desmoid Tumor

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

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
2
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
3 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
4 Liver Extracts Phase 3
5 Narcotics Phase 3
6 Analgesics, Opioid Phase 3
7 Analgesics Phase 3
8 Anesthetics, Intravenous Phase 3
9 Anesthetics, General Phase 3
10 Protein Kinase Inhibitors Phase 3
11
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
12
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
13
Vinblastine Approved Phase 2 865-21-4 241903 13342
14
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
15
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
16
Sodium citrate Approved, Investigational Phase 2 68-04-2
17
Sulindac Approved, Investigational Phase 2 38194-50-2 5352 1548887
18
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
19
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 2 14838-15-4 26934
20
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
21
Aminolevulinic acid Approved Phase 2 106-60-5 137
22
Ipilimumab Approved Phase 2 477202-00-9
23
nivolumab Approved Phase 2 946414-94-4
24
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
25
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
26
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
27
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
28
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
29
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
31
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
32
Imidazole Experimental, Investigational Phase 2 288-32-4 795
33 Vitamin B9 Phase 2
34 Folic Acid Antagonists Phase 2
35 Antirheumatic Agents Phase 2
36 Vitamin B Complex Phase 2
37 Antimetabolites Phase 2
38 Folate Phase 2
39 Angiogenesis Inhibitors Phase 2
40 Antineoplastic Agents, Hormonal Phase 2
41 Citrate Phase 2
42 Analgesics, Non-Narcotic Phase 2
43 Cyclooxygenase Inhibitors Phase 2
44 Estrogen Receptor Antagonists Phase 2
45 Estrogen Antagonists Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 2
47 Dermatologic Agents Phase 2
48 Imatinib Mesylate Phase 1, Phase 2 220127-57-1 123596
49 Alkylating Agents Phase 2
50 Anesthetics Phase 2

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
2 A Phase III, Double Blind, Randomized, Placebo-Controlled Trial of Sorafenib in Desmoid Tumors or Aggressive Fibromatosis (DT/DF) Active, not recruiting NCT02066181 Phase 3 Sorafenib Tosylate
3 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Nirogacestat Versus Placebo in Adult Patients With Progressing Desmoid Tumors/Aggressive Fibromatosis (DT/AF) Active, not recruiting NCT03785964 Phase 3 Nirogacestat oral tablet;Placebo Oral Tablet
4 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2 Toremifene
5 Open-label Trial of Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Unknown status NCT00928525 Phase 2 Imatinib Mesylate
6 Vinblastine and Methotrexate in Children With Desmoid Tumor (Aggressive Fibromatosis) Which is Recurrent or Not Amenable to Surgical Resection or Irradiation - A Pediatric Oncology Group Phase II Study Completed NCT00003019 Phase 2 methotrexate;vinblastine sulfate
7 Multicentric Phase I/II Study Evaluating the Efficacy and Toxicity of Imatinib in Adult Patients With Aggressive Fibromatosis That Cannot be Treated by Surgery or Curative Radiotherapy Completed NCT00287846 Phase 1, Phase 2 imatinib mesylate
8 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
9 Phase II Pilot Study Of Moderate Dose Radiotherapy For Inoperable Aggressive Fibromatoses Completed NCT00030680 Phase 2
10 PHASE II STUDY OF THE SAFETY AND EFFICACY OF TOREMIFENE IN THE THERAPY OF DESMOID TUMORS Completed NCT00002595 Phase 2 toremifene
11 Phase II Study to Evaluate Glivec (Imatinib Mesylate) to Induce Progression Arrest in Aggressive Fibromatosis / Desmoid Tumors Not Amenable to Surgical Resection With R0 Intent or Accompanied by Unacceptable Function Loss Completed NCT01137916 Phase 2 Imatinib
12 A Phase II Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Completed NCT02495519 Phase 2 Imatinib
13 A Phase II Study of Sulindac and Tamoxifen in Patients With Desmoid Tumors That Are Recurrent or Not Amenable to Standard Therapy Completed NCT00068419 Phase 2 tamoxifen citrate;sulindac
14 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors : Phase 2 Clinical Trial Completed NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
15 A Safety, Pharmacokinetic and Efficacy Study of a y-Secretase Inhibitor, Nirogacestat (PF-03084014) in Children and Adolescents With Progressive, Surgically Unresectable Desmoid Tumors Recruiting NCT04195399 Phase 2 Nirogacestat
16 A Phase 1b/2a, Open-label, Multicentre Study to Assess the Safety, Tolerability, Pharmacokinetics, and Antitumor Activity of Vactosertib in Combination With Imatinib in Patients With Advanced Desmoid Tumor (Aggressive Fibromatosis) Recruiting NCT03802084 Phase 1, Phase 2 vactosertib/imatinib combination
17 Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis Recruiting NCT03966742 Phase 2
18 A PHASE 2, SINGLE CENTRE, SINGLE ARM STUDY TO DETERMINE THE EFFICACY AND SAFETY OF 5- ALA POHOTODYNAMIC THERAPY AS ADJUVANT THERAPY AFTER SURGICAL DISSECTION IN PATIENTS WITH DESMOID TUMORS. Recruiting NCT01898416 Phase 2 5-AMINOLEVULINIC ACID (5-ALA), is a non fluorescent prodrug.
19 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
20 The TNT Protocol: A Phase 2 Study Using Talimogene Laherparepvec,Nivolumab and Trabectedin as First, Second/Third Line Therapy for Advanced Sarcoma, Including Desmoid Tumor and Chordoma Recruiting NCT03886311 Phase 2 Talimogene Laherparepvec 100000000 PFU/1 ML Injection Suspension [IMLYGIC];Nivolumab IV Soln 100 MG/10ML;Trabectedin 0.25 MG/1 VIAL Intravenous Powder for Solution
21 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Active, not recruiting NCT01265030 Phase 1, Phase 2 Sirolimus
22 Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis Active, not recruiting NCT01981551 Phase 2 PF-03084014
23 Phase II Trial of Nab-paclitaxel for the Treatment of Desmoid Tumors and Multiply Relapsed/Refractory Desmoplastic Small Round Cell Tumors and Ewing Sarcoma Active, not recruiting NCT03275818 Phase 2 nab paclitaxel
24 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors in Adults and Children (CHP-914) Withdrawn NCT00978146 Phase 2 Hydroxyurea
25 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate in Patient With Rare Tumor (Phase I Study) Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)
26 A Phase I Study of an Oral Histone Deacetylase Inhibitor, MS-275, in Refractory Solid Tumors and Lymphomas Completed NCT00020579 Phase 1 entinostat
27 Safety and Feasibility Study of Using MR-guided High Intensity Focused Ultrasound (HIFU) for the Ablation of Relapsed or Refractory Pediatric Solid Tumors Recruiting NCT02076906 Phase 1
28 Phase 1 Trial of BC2059 (Tegavivint) in Patients With Unresectable Desmoid Tumor Active, not recruiting NCT03459469 Phase 1 Tegavivint
29 A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors Active, not recruiting NCT03627741 Phase 1 Triamcinolone Acetonide
30 Phase I Trial of Z-Endoxifen in Adults With Refractory Hormone Receptor-Positive Breast Cancer, Desmoid Tumors, Gynecologic Tumors, or Other Hormone Receptor-Positive Solid Tumors Active, not recruiting NCT01273168 Phase 1 Z-Endoxifen
31 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
32 In Modern Era, Recurrent Desmoids Determine Outcome in Patients With Gardner Syndrome: A Cohort Study of Three Generations of an Adenomatous Polyposis Coli (APC-) Mutation-Positive Family Across 30 Years Completed NCT01286662
33 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Completed NCT02476305
34 A Prospective Analysis of Active Observation in Patients With Desmoid-Type Fibromatosis Recruiting NCT04281381
35 The Project: EveryChild Protocol: A Registry, Eligibility Screening, Biology and Outcome Study Recruiting NCT02402244
36 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
37 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis Active, not recruiting NCT02867033
38 A COG Soft Tissue Sarcoma Diagnosis, Biology and Banking Protocol Active, not recruiting NCT00919269
39 The Evaluation of Health-related Quality of Life Issues Experienced by Patients With Desmoid-type Fibromatosis Enrolling by invitation NCT04289077
40 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies: Continuing Study Drug Administration in Desmoid Patients Receiving Clinical Benefit No longer available NCT02955446 PF-03084014
41 Pilot Investigation of 18F-FES PET/CT Imaging of Desmoid Tumors Terminated NCT02374931 Early Phase 1 F-18 16 Alpha-Fluoroestradiol

Search NIH Clinical Center for Desmoid Tumor

Genetic Tests for Desmoid Tumor

Anatomical Context for Desmoid Tumor

MalaCards organs/tissues related to Desmoid Tumor:

40
Breast, Colon, Pancreas, Bone, Thyroid, Liver, Spleen

Publications for Desmoid Tumor

Articles related to Desmoid Tumor:

(show top 50) (show all 1206)
# Title Authors PMID Year
1
Desmoid tumor: from surgical extirpation to molecular dissection. 61 54
19436199 2009
2
Analysis of APC, alpha-, beta-catenins, and N-cadherin protein expression in aggressive fibromatosis (desmoid tumor). 61 54
19124205 2009
3
Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence. 54 61
18704758 2009
4
The role of APC and beta-catenin in the aetiology of aggressive fibromatosis (desmoid tumors). 61 54
18722078 2009
5
Desmoid tumor: a disease opportune for molecular insights. 54 61
17952864 2008
6
Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. 61 54
17785554 2007
7
IFN-{beta} signaling positively regulates tumorigenesis in aggressive fibromatosis, potentially by modulating mesenchymal progenitors. 61 54
17671179 2007
8
The role of imatinib mesylate in adjuvant therapy of extra-abdominal desmoid tumors. 61 54
17465254 2007
9
An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients. 61 54
17160433 2007
10
Intrathoracic sporadic desmoid tumor with the beta-catenin gene mutation in exon 3 and activated cyclin D1. 54 61
16131791 2006
11
Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma. 61 54
15793634 2005
12
Comprehensive genetic and endoscopic evaluation may be necessary to distinguish sporadic versus familial adenomatous polyposis-associated abdominal desmoid tumors. 61 54
15179376 2004
13
Response of extraabdominal desmoid tumors to therapy with imatinib mesylate. 54 61
12436445 2002
14
[Desmoid tumors in three patients]. 54 61
11816139 2001
15
Cyclooxygenase-two (COX-2) modulates proliferation in aggressive fibromatosis (desmoid tumor). 61 54
11313976 2001
16
A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor. 54 61
10782927 2000
17
Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). 61 54
10597266 1999
18
Adenomatous polyposis coli gene mutation alters proliferation through its beta-catenin-regulatory function in aggressive fibromatosis (desmoid tumor). 61 54
9736021 1998
19
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. 54 61
8968744 1996
20
Ultrasound-Guided Vacuum-assisted Biopsy Versus Surgical Resection in Patients With Breast Desmoid Tumor. 61
33493893 2021
21
Incidental 18F-Fluciclovine Uptake in a Desmoid Tumor Detected in a Patient Undergoing PET/CT Imaging for Prostate Cancer. 61
33323736 2021
22
A phase 1 study of crenigacestat (LY3039478), the Notch inhibitor, in Japanese patients with advanced solid tumors. 61
32939607 2021
23
Pathological fractures of the femur after radiation therapy for soft tissue tumor: a case series of seven patients treated with repeated internal fixation. 61
32705379 2021
24
Percutaneous cryoablation for advanced and refractory extra-abdominal desmoid tumors. 61
33709291 2021
25
A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family. 61
33213169 2021
26
Pancreas sparing duodenectomy in the treatment of primary duodenal neoplasms and other situations with duodenal involvement. 61
33753002 2021
27
[A Case of Intra-Abdominal Desmoid Tumor with Acute Abdominal Pain]. 61
33790179 2021
28
Pseudoaneurysm within a desmoid tumor in an extremity: report of 2 cases. 61
33723633 2021
29
Long-term follow up of a patient with a recurrent desmoid tumor that was successfully treated with proton beam therapy: A case report and literature review. 61
33392400 2021
30
Solid Pseudopapillary Neoplasm of the Pancreas and Abdominal Desmoid Tumor in a Patient Carrying Two Different BRCA2 Germline Mutations: New Horizons from Tumor Molecular Profiling. 61
33810291 2021
31
An intra-abdominal desmoid tumor. 61
33747549 2021
32
Desmoid Type Fibromatosis of the Breast: Ten-Year Institutional Results of Imaging, Histopathology, and Surgery. 61
33708054 2021
33
Prognostic significance of CTNNB1 mutation in recurrence of sporadic desmoid tumors. 61
33397129 2021
34
Phase 1 study of Z-endoxifen in patients with advanced gynecologic, desmoid, and hormone receptor-positive solid tumors. 61
33659039 2021
35
A rare sporadic pancreatic desmoid fibromatosis diagnosed by endoscopic ultrasound-guided fine-needle aspiration: Case report and literature review. 61
32857922 2021
36
Management of aggressive fibromatosis. 61
33262835 2021
37
Development, Validation, and Visualization of A Web-Based Nomogram for Predicting the Recurrence-Free Survival Rate of Patients With Desmoid Tumors. 61
33718222 2021
38
Safe and pivotal approaches using contrast-enhanced ultrasound for the diagnostic workup of non-obstetric conditions during pregnancy, a single-center experience. 61
32761368 2021
39
Clinical application of next-generation sequencing for the management of desmoid tumors: A case report and literature review. 61
33429825 2021
40
Acute Superficial Vein Thrombosis of the Upper Extremity: A Case Report. 61
33425625 2020
41
Mitral regurgitation due to a mediastinal desmoid tumor: A case report and review of the literature. 61
33363759 2020
42
[Resection of a Desmoid Tumor Originated from Greater Omentum with No History of Open Surgery]. 61
33468889 2020
43
Brachial Plexus Desmoid Tumor: Care for Functional Preservation. 61
33425605 2020
44
Progressive Desmoid Tumor: Radiomics Compared With Conventional Response Criteria for Predicting Progression During Systemic Therapy-A Multicenter Study by the French Sarcoma Group. 61
32991215 2020
45
[A Case of Intra-Abdominal Desmoid Tumors Occuring Four Years after Open Radical Prostatectomy]. 61
33468845 2020
46
Desmoid tumors: To treat or not to treat, That is the question. 61
33022074 2020
47
Desmoid fibromatosis of the pancreas--A case report with radiologic-pathologic correlation. 61
32994833 2020
48
[Desmoid Tumor Treated by Wide Resection of the Anterior Chest Wall]. 61
33268749 2020
49
Small bowel obstruction caused by a fast-growing desmoid tumor. 61
33235792 2020
50
Pancreatic cystic desmoid tumor following metastatic colon cancer surgery: A case report. 61
32944101 2020

Variations for Desmoid Tumor

ClinVar genetic disease variations for Desmoid Tumor:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 APC NM_000038.6(APC):c.4473dup (p.Ala1492fs) Duplication Pathogenic 92347 rs398123122 GRCh37: 5:112175760-112175761
GRCh38: 5:112840063-112840064

Cosmic variations for Desmoid Tumor:

9 (show top 50) (show all 791)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM122734486 TP53 soft tissue,lower leg,fibrosarcoma,NS c.520C>T p.R174* 17:7673704-7673704 3
2 COSM122734046 TP53 soft tissue,lower leg,fibrosarcoma,NS c.263A>G p.Y88C 17:7674872-7674872 3
3 COSM106064989 TP53 soft tissue,lower leg,fibrosarcoma,NS c.839G>T p.R280I 17:7673781-7673781 3
4 COSM145025236 TP53 soft tissue,lower leg,fibrosarcoma,NS c.164C>A p.S55* 17:7676088-7676088 3
5 COSM111758374 TP53 soft tissue,lower leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 3
6 COSM142855718 TP53 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 3
7 COSM122271391 TP53 soft tissue,lower leg,fibrosarcoma,NS c.263A>G p.Y88C 17:7674872-7674872 3
8 COSM112259092 TP53 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 3
9 COSM143370705 TP53 soft tissue,lower leg,fibrosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 3
10 COSM144651207 TP53 soft tissue,chest wall,fibrosarcoma,NS c.419A>G p.H140R 17:7675076-7675076 3
11 COSM105626718 TP53 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 3
12 COSM143388755 TP53 soft tissue,lower leg,fibrosarcoma,NS c.691T>G p.F231V 17:7673812-7673812 3
13 COSM142841840 TP53 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 3
14 COSM144650895 TP53 soft tissue,lower leg,fibrosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 3
15 COSM105620035 TP53 soft tissue,lower leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 3
16 COSM145080597 TP53 soft tissue,abdomen,gastrointestinal stromal tumour,NS c.208T>G p.F70V 17:7676044-7676044 3
17 COSM112279332 TP53 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 3
18 COSM144310566 TP53 soft tissue,lower leg,fibrosarcoma,NS c.799C>T p.R267* 17:7673704-7673704 3
19 COSM143156731 TP53 soft tissue,lower leg,fibrosarcoma,NS c.182A>G p.Y61C 17:7674872-7674872 3
20 COSM93189470 TP53 soft tissue,lower leg,fibrosarcoma,NS c.761T>A p.I254N 17:7674202-7674202 3
21 COSM87898818 TP53 soft tissue,lower leg,fibrosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 3
22 COSM105650062 TP53 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 3
23 COSM144323948 TP53 soft tissue,lower leg,fibrosarcoma,NS c.691T>G p.F231V 17:7673812-7673812 3
24 COSM121894236 TP53 soft tissue,lower leg,fibrosarcoma,NS c.412T>G p.F138V 17:7673812-7673812 3
25 COSM106053540 TP53 soft tissue,lower leg,fibrosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 3
26 COSM122750181 TP53 soft tissue,lower leg,fibrosarcoma,NS c.412T>G p.F138V 17:7673812-7673812 3
27 COSM144319660 TP53 soft tissue,lower leg,fibrosarcoma,NS c.722G>T p.R241I 17:7673781-7673781 3
28 COSM121883167 TP53 soft tissue,lower leg,fibrosarcoma,NS c.365T>A p.I122N 17:7674202-7674202 3
29 COSM122734244 TP53 soft tissue,chest wall,fibrosarcoma,NS c.140A>G p.H47R 17:7675076-7675076 3
30 COSM106060329 TP53 soft tissue,lower leg,fibrosarcoma,NS c.281C>A p.S94* 17:7676088-7676088 3
31 COSM145017479 TP53 soft tissue,lower leg,fibrosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 3
32 COSM143943655 TP53 soft tissue,lower leg,fibrosarcoma,NS c.182A>G p.Y61C 17:7674872-7674872 3
33 COSM122733862 TP53 soft tissue,abdominal wall,desmoid tumour-fibromatosis,NS c.422G>A p.R141H 17:7673802-7673802 3
34 COSM93209198 TP53 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 3
35 COSM87917769 TP53 soft tissue,lower leg,fibrosarcoma,NS c.808T>G p.F270V 17:7673812-7673812 3
36 COSM105620368 TP53 soft tissue,chest wall,fibrosarcoma,NS c.536A>G p.H179R 17:7675076-7675076 3
37 COSM143384021 TP53 soft tissue,lower leg,fibrosarcoma,NS c.722G>T p.R241I 17:7673781-7673781 3
38 COSM142567238 TP53 soft tissue,lower leg,fibrosarcoma,NS c.164C>A p.S55* 17:7676088-7676088 3
39 COSM144013214 TP53 soft tissue,lower leg,fibrosarcoma,NS c.626A>G p.Y209C 17:7674872-7674872 3
40 COSM142837225 TP53 soft tissue,lower leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 3
41 COSM105619828 TP53 soft tissue,abdominal wall,desmoid tumour-fibromatosis,NS c.782+379G>A p.? 17:7673802-7673802 3
42 COSM112253220 TP53 soft tissue,lower leg,fibrosarcoma,NS c.659A>G p.Y220C 17:7674872-7674872 3
43 COSM144087035 TP53 soft tissue,lower leg,fibrosarcoma,NS c.182A>G p.Y61C 17:7674872-7674872 3
44 COSM105627969 TP53 soft tissue,lower leg,fibrosarcoma,NS c.281C>A p.S94* 17:7676088-7676088 3
45 COSM143944264 TP53 soft tissue,lower leg,fibrosarcoma,NS c.439C>T p.R147* 17:7673704-7673704 3
46 COSM111784192 TP53 soft tissue,lower leg,fibrosarcoma,NS c.497C>G p.S166* 17:7675115-7675115 3
47 COSM144091102 TP53 soft tissue,lower leg,fibrosarcoma,NS c.284T>A p.I95N 17:7674202-7674202 3
48 COSM142837646 TP53 soft tissue,lower leg,fibrosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 3
49 COSM93184097 TP53 soft tissue,lower leg,fibrosarcoma,NS c.916C>T p.R306* 17:7673704-7673704 3
50 COSM142560073 TP53 soft tissue,lower leg,fibrosarcoma,NS c.542A>G p.Y181C 17:7674872-7674872 3

Expression for Desmoid Tumor

Search GEO for disease gene expression data for Desmoid Tumor.

Pathways for Desmoid Tumor

Pathways related to Desmoid Tumor according to GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 RB1 PTGS2 PDGFRB PDGFRA PDGFB KIT
2
Show member pathways
13.51 PDGFRB PDGFRA PDGFB PAGR1 KIT CTNNB1
3
Show member pathways
13.31 PDGFRB PDGFRA PDGFB KIT CTNNB1 CTNNA1
4
Show member pathways
13.28 PDGFRB PDGFRA PDGFB KIT CTNNB1 CDH2
5
Show member pathways
12.9 RB1 KIT CTNNB1 CDKN2A CCND1 APC
6
Show member pathways
12.9 RB1 PTGS2 PDGFRA PDGFB CTNNB1 CDKN2A
7
Show member pathways
12.85 RB1 PTGS2 PDGFRB PDGFRA PDGFB CTNNB1
8
Show member pathways
12.75 RB1 PTGS2 PDGFRB PDGFRA PDGFB KIT
9
Show member pathways
12.74 PDGFRB PDGFRA PDGFB KIT CTNNB1
10
Show member pathways
12.67 RB1 KIT CTNNB1 CTNNA1 CDKN2A CCND1
11
Show member pathways
12.66 RB1 PDGFRB PDGFRA PDGFB CDKN2A CCND1
12
Show member pathways
12.6 RB1 PDGFRB PDGFRA PDGFB KIT CTNNB1
13 12.51 RB1 MUTYH MKI67 CDKN2A CCND1
14
Show member pathways
12.42 PDGFRB PDGFRA PDGFB CCND1
15
Show member pathways
12.42 RB1 PDGFRB PDGFRA PDGFB CTNNB1 APC
16 12.42 RB1 PTGS2 PDGFRB PDGFRA PDGFB KIT
17
Show member pathways
12.41 PDGFRB PDGFRA PDGFB KIT
18 12.4 PTGS2 PDGFRB PDGFRA PDGFB CDKN2A CCND1
19
Show member pathways
12.38 SERPINE1 RB1 CDKN2A CCND1
20 12.34 RB1 MCM5 CDKN2A CCND1 APC
21
Show member pathways
12.33 PTGS2 PDGFRB PDGFRA CCND1
22
Show member pathways
12.32 PDGFRB PDGFRA PDGFB KIT CTNNB1 CTNNA1
23
Show member pathways
12.27 RB1 PDGFRB PDGFRA PDGFB KIT
24 12.26 RB1 PTGS2 CTNNB1 CTNNA1 CDH2 CCND1
25 12.2 PTGS2 CTNNB1 CCND1 APC
26 12.17 SERPINE1 RB1 CDKN2A CCND1
27 12.12 SERPINE1 CTNNB1 CTNNA1 CCND1 APC
28 12.11 CTNNB1 CTNNA1 CDH2 APC
29 12.02 SERPINE1 CTNNB1 CTNNA1 CDH2
30 11.98 CTNNB1 CDKN2A CCND1 APC
31 11.95 PDGFRB PDGFRA PDGFB CDH2
32 11.88 PDGFB KIT CDH2 CD34
33 11.87 RB1 PTGS2 CCND1
34 11.86 RB1 CTNNB1 CCND1
35 11.85 PTGS2 PDGFRB PDGFRA
36 11.84 PDGFRB PDGFRA PDGFB
37 11.79 CTNNB1 CCND1 APC
38 11.76 PTGS2 KIT CD34 CCND1
39 11.75 MKI67 CTNNB1 CDH2
40 11.75 RB1 CDKN2A CCND1
41 11.73 PDGFRB PDGFRA KIT
42
Show member pathways
11.63 CTNNB1 CTNNA1 CDH2
43 11.59 CTNNB1 CCND1 APC
44 11.59 PDGFRA KIT ACTC1
45
Show member pathways
11.57 PDGFRB PDGFRA KIT
46 11.52 RB1 PDGFRA CDKN2A CCND1
47 11.51 CTNNB1 CCND1 APC
48 11.48 PDGFRB PDGFRA PDGFB
49 11.44 CTNNB1 CTNNA1 CDH2
50
Show member pathways
11.35 PDGFRB PDGFRA KIT

GO Terms for Desmoid Tumor

Cellular components related to Desmoid Tumor according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 PTGS2 PDGFRB PDGFRA PDGFB MCM5 KIT
2 cell-cell junction GO:0005911 9.73 KIT CTNNB1 CTNNA1 CDH2
3 cell surface GO:0009986 9.73 PDGFRB PDGFRA PDGFB KIT CDH2 CD34
4 adherens junction GO:0005912 9.67 CTNNB1 CTNNA1 CDH2 APC
5 focal adhesion GO:0005925 9.63 PDGFRB CTNNB1 CTNNA1 CDH2 AFAP1 ACTC1
6 beta-catenin destruction complex GO:0030877 9.51 CTNNB1 APC
7 intercalated disc GO:0014704 9.5 CTNNB1 CTNNA1 CDH2
8 Wnt signalosome GO:1990909 9.49 CTNNB1 APC
9 fascia adherens GO:0005916 9.48 CTNNB1 CDH2
10 flotillin complex GO:0016600 9.46 CTNNB1 CTNNA1
11 lamellipodium GO:0030027 9.35 CTNNB1 CTNNA1 CDH2 APC ACTC1
12 catenin complex GO:0016342 8.92 CTNNB1 CTNNA1 CDH2 APC

Biological processes related to Desmoid Tumor according to GeneCards Suite gene sharing:

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 10.07 RB1 PTGS2 CTNNB1 CDKN2A APC
2 positive regulation of apoptotic process GO:0043065 10.02 PTGS2 PDGFRB CTNNB1 CDKN2A APC
3 positive regulation of gene expression GO:0010628 10.01 PDGFB KIT CTNNB1 CDKN2A CD34 ACTC1
4 regulation of cell proliferation GO:0042127 9.97 PTGS2 KIT CTNNB1 CTNNA1
5 positive regulation of protein kinase B signaling GO:0051897 9.93 PDGFRB PDGFRA PDGFB KIT
6 cell-cell adhesion GO:0098609 9.93 CTNNB1 CTNNA1 CDH2 CD34
7 cell migration GO:0016477 9.91 PDGFRB PDGFRA CTNNA1 CDH2 APC
8 peptidyl-tyrosine phosphorylation GO:0018108 9.9 PDGFRB PDGFRA PDGFB KIT
9 response to organic cyclic compound GO:0014070 9.89 PTGS2 PDGFRB CTNNA1 CCND1
10 positive regulation of cell migration GO:0030335 9.89 PDGFRB PDGFRA PDGFB KIT APC
11 positive regulation of kinase activity GO:0033674 9.86 PDGFRB PDGFRA KIT
12 positive regulation of MAPK cascade GO:0043410 9.86 PDGFB KIT CTNNB1 CDH2
13 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.84 RB1 CDKN2A APC
14 response to estrogen GO:0043627 9.83 PDGFRB CTNNA1 CCND1
15 positive regulation of smooth muscle cell proliferation GO:0048661 9.83 PTGS2 PDGFRB PDGFB
16 response to estradiol GO:0032355 9.83 PTGS2 PDGFRB CTNNB1 CCND1
17 positive regulation of MAP kinase activity GO:0043406 9.82 PDGFRB PDGFB KIT
18 odontogenesis of dentin-containing tooth GO:0042475 9.81 PDGFRA CTNNB1 CTNNA1
19 positive regulation of fibroblast proliferation GO:0048146 9.79 PDGFRB PDGFRA PDGFB
20 adherens junction organization GO:0034332 9.78 CTNNB1 CTNNA1 CDH2
21 G1/S transition of mitotic cell cycle GO:0000082 9.76 RB1 MCM5 CDKN2A CCND1
22 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.73 PDGFRB PDGFRA PDGFB KIT
23 platelet-derived growth factor receptor signaling pathway GO:0048008 9.72 PDGFRB PDGFRA PDGFB
24 positive regulation of cell proliferation GO:0008284 9.7 PTGS2 PDGFRB PDGFRA PDGFB KIT CTNNB1
25 positive regulation of pseudopodium assembly GO:0031274 9.69 KIT APC
26 Leydig cell differentiation GO:0033327 9.69 PDGFRA CCND1
27 positive regulation of transforming growth factor beta production GO:0071636 9.68 PTGS2 CD34
28 somatic stem cell division GO:0048103 9.68 KIT CDKN2A
29 negative regulation of platelet activation GO:0010544 9.68 PDGFRA PDGFB
30 retina vasculature development in camera-type eye GO:0061298 9.67 PDGFRB PDGFRA
31 cell chemotaxis GO:0060326 9.67 PDGFRB PDGFRA PDGFB KIT
32 paracrine signaling GO:0038001 9.65 PDGFB CD34
33 detection of muscle stretch GO:0035995 9.65 CTNNB1 CDH2
34 positive regulation of muscle cell differentiation GO:0051149 9.65 CTNNB1 CTNNA1 CDH2
35 hemopoiesis GO:0030097 9.62 PDGFB KIT CTNNB1 CD34
36 cellular response to indole-3-methanol GO:0071681 9.61 CTNNB1 CTNNA1
37 metanephric glomerular capillary formation GO:0072277 9.58 PDGFRB PDGFRA
38 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.58 PDGFRB PDGFRA
39 tissue homeostasis GO:0001894 9.58 RB1 CTNNB1 CD34
40 positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway GO:0035793 9.57 PDGFRB PDGFB
41 positive regulation of phospholipase C activity GO:0010863 9.43 PDGFRB PDGFRA KIT
42 cardiac myofibril assembly GO:0055003 9.13 PDGFRB PDGFRA ACTC1
43 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 8.92 PDGFRB PDGFRA PDGFB KIT

Molecular functions related to Desmoid Tumor according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.85 PDGFRB CTNNB1 CDKN2A CDH2 CCND1 APC
2 transcription factor binding GO:0008134 9.83 RB1 CTNNB1 CDKN2A CD34 CCND1
3 enzyme binding GO:0019899 9.73 RB1 PTGS2 PDGFRB CTNNB1 CDH2 CCND1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 PDGFRB PDGFRA KIT
5 beta-catenin binding GO:0008013 9.62 CTNNB1 CTNNA1 CDH2 APC
6 disordered domain specific binding GO:0097718 9.58 RB1 CTNNB1 CDKN2A
7 alpha-catenin binding GO:0045294 9.49 CTNNB1 CDH2
8 vascular endothelial growth factor binding GO:0038085 9.46 PDGFRB PDGFRA
9 platelet-derived growth factor receptor binding GO:0005161 9.33 PDGFRB PDGFRA PDGFB
10 gamma-catenin binding GO:0045295 9.13 CTNNA1 CDH2 APC
11 platelet-derived growth factor binding GO:0048407 8.8 PDGFRB PDGFRA PDGFB

Sources for Desmoid Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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