FIF
MCID: DSM004
MIFTS: 56

Desmoid Tumor (FIF) malady

Categories: Rare diseases, Muscle diseases, Genetic diseases

Aliases & Classifications for Desmoid Tumor

Aliases & Descriptions for Desmoid Tumor:

Name: Desmoid Tumor 50 25 29 52
Familial Infiltrative Fibromatosis 50 25
Fibromatosis, Familial Infiltrative 50
Musculo-Aponeurotic Fibromatosis 69
Musculoaponeurotic Fibromatosis 25
Desmoid Disorder, Hereditary 50
Desmoid Disease, Hereditary 69
Hereditary Desmoid Disease 25
Fibromatosis, Aggressive 69
Aggressive Fibromatosis 25
Desmoid Fibromatosis 25
Deep Fibromatosis 25
Fif 50

Classifications:



Summaries for Desmoid Tumor

Genetics Home Reference : 25 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.

MalaCards based summary : Desmoid Tumor, also known as familial infiltrative fibromatosis, is related to fibrosarcoma and gastrointestinal stromal tumor, and has symptoms including arthralgia, myalgia and chest pain. An important gene associated with Desmoid Tumor is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. The drugs Erythromycin and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and colon, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and behavior/neurological

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 114)
id Related Disease Score Top Affiliating Genes
1 fibrosarcoma 29.7 KIT PDGFRA
2 gastrointestinal stromal tumor 29.7 KIT PDGFRA PDGFRB
3 desmoid disease, hereditary 11.7
4 adenomatous polyposis coli 11.4
5 familial adenomatous polyposis 11.3
6 fibromatosis 10.5
7 macular degeneration, early-onset 10.2 APC CTNNB1
8 diabetes mellitus, noninsulin-dependent, 2 10.1 APC CTNNB1
9 submucosal invasive colon adenocarcinoma 10.1 APC CTNNB1
10 fibromatosis, gingival, 1 10.1 APC CTNNB1
11 ideomotor apraxia 10.1 APC CTNNB1
12 pancreatitis 10.1
13 ehlers-danlos syndrome, type viic 10.1 APC CTNNB1
14 reactive arthritis 10.1 CTNNB1 KIT
15 cone dystrophy 10.1 CTNNB1 KIT
16 enchondromatosis dwarfism deafness 10.1 CTNNB1 KIT
17 popliteal pterygium syndrome, bartsocas-papas type 10.1 CTNNB1 KIT
18 herpes simplex encephalitic 6 10.1 APC CTNNB1
19 dupuytren contracture 10.0 KIT PDGFRB
20 advanced sleep phase syndrome 10.0 CTNNB1 KIT
21 van regemorter pierquin vamos syndrome 10.0 KIT PDGFRB
22 mitral valve stenosis 10.0 KIT PDGFRB
23 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.0 PDGFRA PDGFRB
24 autosomal dominant proximal renal tubular acidosis 10.0 PDGFRA PDGFRB
25 abdominal obesity-metabolic syndrome 10.0 PDGFRA PDGFRB
26 orbital margin, hypoplasia of 10.0 PDGFRA PDGFRB
27 invasive mole 10.0 KIT PDGFRA
28 ganglioneuroma 10.0 KIT PDGFRA
29 uremic neuropathy 10.0 KIT PDGFRA
30 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.0 KIT PDGFRA
31 malignant epithelial mesothelioma 10.0 KIT PDGFRA
32 olfactory nerve disease 10.0 KIT PDGFRA
33 larynx leiomyosarcoma 10.0 KIT PDGFRA
34 rectum leiomyoma 10.0 KIT PDGFRA
35 pustulosis palmaris et plantaris 10.0 KIT PDGFRA
36 fragile x-associated tremor/ataxia syndrome 10.0 KIT PDGFRA
37 kidney clear cell sarcoma 10.0 KIT PDGFRA
38 small intestinal sarcoma 9.9 KIT PDGFRA
39 endocrine organ benign neoplasm 9.9 CTNNB1 KIT
40 asperger syndrome 9.9 APC CTNNB1
41 amyloidosis, hereditary, transthyretin-related 9.9 CTNNB1 KIT
42 focal epilepsy 9.9 PDGFRA PDGFRB
43 dentinogenesis imperfecta, shields type ii 9.9 KIT PDGFRA
44 fitz-hugh-curtis syndrome 9.9 APC CTNNB1 KIT
45 mediastinitis 9.9
46 c-p angle neurinoma 9.9 KIT PDGFRA
47 oral leukoedema 9.9 KIT PDGFRA
48 neutrophil immunodeficiency syndrome 9.9 PDGFRA PDGFRB
49 brown-vialetto-van laere syndrome 9.9 KIT PDGFRA
50 sarcoma 9.9

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:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 myalgia 32 HP:0003326
3 chest pain 32 HP:0100749
4 abdominal pain 32 HP:0002027
5 malabsorption 32 HP:0002024
6 abnormality of retinal pigmentation 32 HP:0007703
7 subcutaneous nodule 32 HP:0001482
8 limitation of joint mobility 32 HP:0001376
9 intestinal obstruction 32 HP:0005214
10 abnormality of the musculature 32 HP:0003011
11 gastrointestinal hemorrhage 32 HP:0002239
12 neoplasm of the skin 32 HP:0008069
13 sepsis 32 HP:0100806
14 osteolysis 32 HP:0002797
15 hydronephrosis 32 HP:0000126
16 intestinal polyposis 32 HP:0200008
17 abnormality of the abdominal wall 32 HP:0004298
18 desmoid tumors 32 HP:0100245

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10 PDGFRA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10 KIT
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10 PDGFRA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 10 CTNNB1 KIT PDGFRA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10 CTNNB1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10 PDGFRA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 10 KIT
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10 PDGFRA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10 PDGFRA
10 Decreased viability GR00173-A 9.85 PDGFRA
11 Decreased viability GR00221-A-1 9.85 KIT PDGFRA PDGFRB
12 Decreased viability GR00221-A-3 9.85 PDGFRA PDGFRB
13 Decreased viability GR00221-A-4 9.85 PDGFRA PDGFRB
14 Decreased viability GR00301-A 9.85 KIT
15 Decreased viability GR00342-S-1 9.85 PDGFRB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 CTNNB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.68 CTNNB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.68 PDGFRA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.68 APC
20 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.68 PDGFRA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 APC CTNNB1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.68 APC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.68 CTNNB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.68 APC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.68 PDGFRA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.68 APC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 PDGFRA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 CTNNB1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.68 PDGFRA APC CTNNB1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.68 CTNNB1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.68 PDGFRA CTNNB1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.68 APC CTNNB1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.68 CTNNB1
34 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.5 APC CTNNB1 PDGFRB
35 Decreased viability in esophageal squamous lineage GR00235-A 9.35 APC CTNNB1 KIT PDGFRA PDGFRB

MGI Mouse Phenotypes related to Desmoid Tumor:

44 (show all 22)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 APC CTNNB1 KIT PDGFRA PDGFRB
2 cardiovascular system MP:0005385 10 APC CTNNB1 KIT PDGFRA PDGFRB
3 cellular MP:0005384 9.99 APC CTNNB1 KIT PDGFRA PDGFRB
4 craniofacial MP:0005382 9.98 APC CTNNB1 KIT PDGFRA PDGFRB
5 digestive/alimentary MP:0005381 9.97 APC CTNNB1 KIT PDGFRA PDGFRB
6 embryo MP:0005380 9.97 APC CTNNB1 KIT PDGFRA PDGFRB
7 endocrine/exocrine gland MP:0005379 9.96 APC CTNNB1 KIT PDGFRA PDGFRB
8 growth/size/body region MP:0005378 9.95 APC CTNNB1 KIT PDGFRA PDGFRB
9 hematopoietic system MP:0005397 9.93 APC CTNNB1 KIT PDGFRA PDGFRB
10 immune system MP:0005387 9.92 APC CTNNB1 KIT PDGFRA PDGFRB
11 integument MP:0010771 9.91 APC CTNNB1 KIT PDGFRA PDGFRB
12 limbs/digits/tail MP:0005371 9.89 APC CTNNB1 KIT PDGFRA PDGFRB
13 muscle MP:0005369 9.88 APC CTNNB1 KIT PDGFRA PDGFRB
14 nervous system MP:0003631 9.83 APC CTNNB1 KIT PDGFRA PDGFRB
15 normal MP:0002873 9.77 CTNNB1 KIT PDGFRA PDGFRB APC
16 neoplasm MP:0002006 9.76 APC CTNNB1 KIT PDGFRA
17 no phenotypic analysis MP:0003012 9.71 APC CTNNB1 KIT PDGFRA
18 renal/urinary system MP:0005367 9.65 KIT PDGFRA PDGFRB APC CTNNB1
19 pigmentation MP:0001186 9.62 APC CTNNB1 KIT PDGFRA
20 reproductive system MP:0005389 9.55 APC CTNNB1 KIT PDGFRA PDGFRB
21 skeleton MP:0005390 9.35 APC CTNNB1 KIT PDGFRA PDGFRB
22 vision/eye MP:0005391 8.92 APC CTNNB1 KIT PDGFRB

Drugs & Therapeutics for Desmoid Tumor

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

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
2 Gastrointestinal Agents Phase 4
3 Erythromycin Estolate Phase 4
4 Erythromycin Ethylsuccinate Phase 4
5 Erythromycin stearate Phase 4
6 Anti-Bacterial Agents Phase 4,Phase 1,Phase 2
7 Anti-Infective Agents Phase 4,Phase 1,Phase 2
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
9
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
11
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
12
Nicotinamide Approved, Nutraceutical Phase 3 98-92-0 936
13 pancreatic polypeptide Phase 3
14 Analgesics Phase 3,Phase 2
15 Adjuvants, Anesthesia Phase 3
16 Narcotics Phase 3
17 Analgesics, Opioid Phase 3
18 Anesthetics Phase 3,Phase 2
19 Anesthetics, General Phase 3
20 Anesthetics, Intravenous Phase 3
21 Peripheral Nervous System Agents Phase 3,Phase 2
22 Vitamin B Complex Phase 3,Phase 2
23 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
24 Liver Extracts Phase 3,Phase 1
25 Central Nervous System Depressants Phase 3
26 Nicotinic Acids Phase 3
27 Trace Elements Phase 3
28 Vitamins Phase 3
29 Micronutrients Phase 3
30 Folate Nutraceutical Phase 3,Phase 2
31 Cola Nutraceutical Phase 3,Phase 2,Phase 1
32 Vitamin B9 Nutraceutical Phase 3,Phase 2
33 Vitamin B3 Nutraceutical Phase 3
34
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
35
Vinblastine Approved Phase 2 865-21-4 13342 241903
36
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
37
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
38
Tamoxifen Approved Phase 2,Phase 1 10540-29-1 2733526
39
Aminolevulinic acid Approved Phase 2 106-60-5 137
40
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
41
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
42
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
43
Sulindac Approved Phase 2 38194-50-2 5352 1548887
44
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
45 Selective Estrogen Receptor Modulators Phase 2,Phase 1
46 Hormone Antagonists Phase 2,Phase 1
47 Hormones Phase 2,Phase 1
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
49 Estrogen Receptor Modulators Phase 2,Phase 1
50 Estrogens Phase 2,Phase 1

Interventional clinical trials:

(show all 34)
id Name Status NCT ID Phase
1 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
2 Prospective Trial Comparing the Performance Profiles of Two Non-Cross-Linked Porcine Dermal Matrices in Abdominal Wall Reconstruction Recruiting NCT02228889 Phase 4
3 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors' Adjusted Version Not yet recruiting NCT02354560 Phase 4
4 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3
5 Sorafenib Tosylate in Treating Patients With Desmoid Tumors or Aggressive Fibromatosis Active, not recruiting NCT02066181 Phase 3
6 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2
7 Toremifene in Treating Patients With Desmoid Tumors Completed NCT00002595 Phase 2
8 Vinblastine and Methotrexate in Treating Children With Desmoid Tumors Completed NCT00003019 Phase 2
9 Radiation Therapy in Treating Patients With Aggressive Fibromatoses Completed NCT00030680 Phase 2
10 Study to Evaluate Imatinib in Desmoid Tumors Completed NCT01137916 Phase 2
11 Imatinib Mesylate in Treating Patients With Recurrent or Refractory Fibromatosis Completed NCT00287846 Phase 1, Phase 2
12 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2
13 A Pilot Study Evaluating the Use of mTor Inhibitor Sirolimus in Children and Young Adults With Desmoid-Type Fibromatosis Recruiting NCT01265030 Phase 1, Phase 2
14 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors Recruiting NCT01876082 Phase 2
15 Safety and Efficacy Study Using 5-ALA Oral Administration as an Adjuvant Therapy on the Rate of Local Tumor Recurrence in Patients Who Have Desmoids Tumors Recruiting NCT01898416 Phase 2
16 Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis Active, not recruiting NCT01981551 Phase 2
17 Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2
18 Sulindac and Tamoxifen in Treating Patients With Desmoid Tumor Active, not recruiting NCT00068419 Phase 2
19 A Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Active, not recruiting NCT02495519 Phase 2
20 Erlotinib Hydrochloride in Reducing Duodenal Polyp Burden in Patients With Familial Adenomatous Polyposis at Risk of Developing Colon Cancer Not yet recruiting NCT02961374 Phase 2
21 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors Withdrawn NCT00978146 Phase 2
22 A Dose Escalation Study of OMP-54F28 in Subjects With Solid Tumors Completed NCT01608867 Phase 1
23 MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma Completed NCT00020579 Phase 1
24 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate Completed NCT01046487 Phase 1
25 Endoxifen in Adults With Hormone Receptor Positive Solid Tumors Recruiting NCT01273168 Phase 1
26 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
27 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
28 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Treatment Recruiting NCT02476305
29 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES) Recruiting NCT02867033
30 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Recruiting NCT02374931
31 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Recruiting NCT02547831
32 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
33 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Recruiting NCT00919269
34 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies Available NCT02955446

Search NIH Clinical Center for Desmoid Tumor

Genetic Tests for Desmoid Tumor

Genetic tests related to Desmoid Tumor:

id Genetic test Affiliating Genes
1 Desmoid Tumors 29

Anatomical Context for Desmoid Tumor

MalaCards organs/tissues related to Desmoid Tumor:

39
Bone, Breast, Colon, Skin, Pancreas, Lung, Lymph Node

Publications for Desmoid Tumor

Articles related to Desmoid Tumor:

(show top 50) (show all 468)
id Title Authors Year
1
Does routine colonoscopy help diagnose familial adenomatous polyposis in patients presenting with desmoid tumors but no gastrointestinal symptoms? ( 27844202 )
2017
2
An Intra-Abdominal Desmoid Tumor, Embedded in the Pancreas, Preoperatively Diagnosed as an Extragastric Growing Gastrointestinal Stromal Tumor. ( 28512414 )
2017
3
Desmoid tumor patients carry an elevated risk of familial adenomatous polyposis. ( 26663236 )
2016
4
Surgical Management of Desmoid Tumor of the Female Pelvis: A Case Report. ( 27612912 )
2016
5
A case of desmoid tumor co-existing with recurrent squamous cell carcinoma in the larynx. ( 27474466 )
2016
6
Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner's syndrome. ( 27538186 )
2016
7
Desmoid Tumor Showing Intense Uptake on 68Ga PSMA-HBED-CC PET/CT. ( 26909712 )
2016
8
Complete remission of pancreatic head desmoid tumor treated by COX-2 inhibitor-a case report. ( 27450394 )
2016
9
A Sporadic Desmoid Tumor: an Exceptional Pancreatic Cystic-Solid Mass. ( 27574352 )
2016
10
Breast Desmoid Tumor after Ductal Carcinoma Treatment: Salvaging a DIEP Flap Reconstruction. ( 27975036 )
2016
11
Sporadic intra-abdominal desmoid tumor: a unusual presentation. ( 27150282 )
2016
12
Desmoid Tumor of the Chest Wall Mimicking Recurrent Breast Cancer: Multimodality Imaging Findings. ( 27895871 )
2016
13
Tailored Beta-catenin mutational approach in extra-abdominal sporadic desmoid tumor patients without therapeutic intervention. ( 27565718 )
2016
14
Bilateral desmoid tumor of the breast: case seriesand literature review. ( 27578999 )
2016
15
EXTRA-ABDOMINAL DESMOID TUMOR: LOCAL RECURRENCE AND TREATMENT OPTIONS. ( 27217816 )
2016
16
Intestinal perforation during chemotherapeutic treatment of intra-abdominal desmoid tumor in patients with Gardner's syndrome: report of two cases. ( 27377916 )
2016
17
Risk Factors for the Development of Desmoid Tumor After Colectomy in Patients with Familial Adenomatous Polyposis: Multicenter Retrospective Cohort Study in Japan. ( 27387679 )
2016
18
Extra-Abdominal Desmoid Tumor in the Donor Site of an Extended Latissimus Dorsi Flap. ( 26848462 )
2016
19
Rapid progression of a pregnancy-associated intra-abdominal desmoid tumor in the post-partum period: A case report. ( 27810608 )
2016
20
Laparoscopic excision of abdominal wall desmoid tumor. ( 26781534 )
2016
21
Carbon ion radiotherapy for desmoid tumor of the abdominal wall: a case report. ( 27624694 )
2016
22
Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent. ( 26884451 )
2016
23
Occurrence of an intrathoracic desmoid tumor following breast cancer treatment: A case report. ( 26893861 )
2016
24
Recurrent giant cranial desmoid tumor in a 3-year-old boy with familial adenomatous polyposis requiring bifrontoparietal cranioplasty: case report. ( 27635978 )
2016
25
Resection and Abdominal Wall Reconstruction of a Desmoid Tumor with Endometrioma Features. ( 27247824 )
2016
26
Desmoid tumor fistulating to small bowel. ( 25820514 )
2015
27
Palliative Resection of a Giant Mesenteric Desmoid Tumor. ( 26730236 )
2015
28
Desmoid tumor (fibromatosis) of the head and neck. ( 25630012 )
2015
29
Primary asymptomatic desmoid tumor of the mesentery. ( 25782060 )
2015
30
Pain burden in desmoid tumor patients: A survey of the French Advocacy Group SOS Desmoid. ( 25747890 )
2015
31
Desmoid tumor of the stomach. ( 26069983 )
2015
32
Concomitant surgical treatment of a chondrosarcoma of the chest wall and a desmoid tumor of the gastrointestinal tract. ( 26336503 )
2015
33
Prediction of desmoid tumor progression using miRNA expression profiling. ( 25707497 )
2015
34
Desmoid tumor (fibromatosis) of the head and neck. ( 26108599 )
2015
35
A rare desmoid tumor arising from the manubrium. ( 25884938 )
2015
36
Desmoid tumor of the pancreas: a case report. ( 25943401 )
2015
37
An Unusual Solid and Cystic Pancreatic Tumor in a 20-Year-Old Woman. Desmoid Tumor: Fibromatosis. ( 26226587 )
2015
38
Desmoid tumor of lung with pleural involvement - the case of unique location of aggressive fibromatosis. ( 26774632 )
2015
39
Desmoid Tumor of the Popliteal Fossa during Pregnancy. ( 25734019 )
2015
40
Abdominal wall desmoid tumor during pregnancy: case report and literature review. ( 26054134 )
2015
41
A Rapidly Growing Abdominal Mass: Desmoid Tumor in Pregnancy. ( 26199790 )
2015
42
Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals. ( 26179480 )
2015
43
Mediastinal Desmoid Tumor With Remarkably Rapid Growth: A Case Report. ( 26717381 )
2015
44
Desmoid tumor: an unusual case of gross hematuria. ( 25642294 )
2015
45
Renographic Demonstration of Desmoid Tumor-Ureteral Fistula. ( 26284772 )
2015
46
High-grade soft tissue sarcoma arising in a desmoid tumor: case report and review of the literature. ( 26629326 )
2015
47
Desmoid Tumor of the Pancreas: Case Report and Review of a Rare Entity. ( 26215223 )
2015
48
Intrathoracic Desmoid Tumor Presenting as Multiple Lung Nodules 13 Years after Previous Resection of Abdominal Wall Desmoid Tumor. ( 26175783 )
2015
49
Intrathoracic desmoid tumor arising at a distance from thoracotomy sites after thoracoscopic segmentectomy: report of a case. ( 25973257 )
2015
50
Pedicled TRAM Flap in Presence of Desmoid Tumor of the Rectus Sheath; a Case Report. ( 27065672 )
2015

Variations for Desmoid Tumor

ClinVar genetic disease variations for Desmoid Tumor:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 APC APC, 2-BP INS, CODON 1924 insertion Pathogenic
2 APC NM_000038.5(APC): c.4575_4576ins337 (p.?) insertion Pathogenic GRCh38 Chromosome 5, 112840169: 112840170
3 APC APC, 4-BP DEL, 7929TCTA deletion Pathogenic
4 APC NM_000038.5(APC): c.5826_5829delCAGA (p.Asp1942Glufs) deletion Pathogenic rs864622228 GRCh38 Chromosome 5, 112841420: 112841423

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 all 41)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 APC CTNNB1 KIT PDGFRA PDGFRB
2
Show member pathways
13.33 APC CTNNB1 KIT PDGFRA PDGFRB
3
Show member pathways
13.19 CTNNB1 KIT PDGFRA PDGFRB
4
Show member pathways
12.99 CTNNB1 KIT PDGFRA PDGFRB
5
Show member pathways
12.85 APC CTNNB1 KIT PDGFRA PDGFRB
6
Show member pathways
12.63 CTNNB1 PDGFRA PDGFRB
7
Show member pathways
12.48 KIT PDGFRA PDGFRB
8
Show member pathways
12.41 APC CTNNB1 KIT PDGFRA PDGFRB
9
Show member pathways
12.4 CTNNB1 KIT PDGFRA PDGFRB
10 12.39 APC PDGFRA PDGFRB
11 12.34 KIT PDGFRA PDGFRB
12
Show member pathways
12.34 CTNNB1 PDGFRA PDGFRB
13 12.27 APC PDGFRA PDGFRB
14
Show member pathways
12.26 APC PDGFRA PDGFRB
15
Show member pathways
12.2 CTNNB1 PDGFRA PDGFRB
16
Show member pathways
12.16 CTNNB1 PDGFRA PDGFRB
17
Show member pathways
12.15 KIT PDGFRA PDGFRB
18
Show member pathways
12.07 APC CTNNB1 KIT
19
Show member pathways
12.07 APC CTNNB1 PDGFRA PDGFRB
20
Show member pathways
12.05 APC CTNNB1 KIT
21 11.97 APC CTNNB1 PDGFRA PDGFRB
22 11.81 KIT PDGFRA PDGFRB
23 11.62 PDGFRA PDGFRB
24 11.62 APC CTNNB1 KIT PDGFRA PDGFRB
25
Show member pathways
11.6 KIT PDGFRB
26 11.57 APC CTNNB1
27 11.5 APC CTNNB1
28
Show member pathways
11.46 KIT PDGFRA PDGFRB
29 11.39 KIT PDGFRA
30 11.38 APC CTNNB1
31 11.36 KIT PDGFRA PDGFRB
32 11.32 APC CTNNB1
33 11.3 PDGFRA PDGFRB
34 11.3 APC CTNNB1 PDGFRA PDGFRB
35 11.28 APC CTNNB1
36 11.08 APC CTNNB1
37 10.97 CTNNB1 PDGFRB
38 10.95 APC CTNNB1
39 10.91 PDGFRA PDGFRB
40 10.77 APC CTNNB1
41 10.64 PDGFRA PDGFRB

GO Terms for Desmoid Tumor

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

id Name GO ID Score Top Affiliating Genes
1 cell-cell adherens junction GO:0005913 9.4 APC CTNNB1
2 adherens junction GO:0005912 9.37 APC CTNNB1
3 lateral plasma membrane GO:0016328 9.32 APC CTNNB1
4 intrinsic component of plasma membrane GO:0031226 9.26 PDGFRA PDGFRB
5 Wnt signalosome GO:1990909 9.16 APC CTNNB1
6 beta-catenin destruction complex GO:0030877 8.96 APC CTNNB1
7 catenin complex GO:0016342 8.62 APC CTNNB1

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of apoptotic process GO:0043065 9.79 APC CTNNB1 PDGFRB
2 positive regulation of cell proliferation GO:0008284 9.78 CTNNB1 KIT PDGFRA PDGFRB
3 MAPK cascade GO:0000165 9.77 KIT PDGFRA PDGFRB
4 protein autophosphorylation GO:0046777 9.75 KIT PDGFRA PDGFRB
5 peptidyl-tyrosine phosphorylation GO:0018108 9.74 KIT PDGFRA PDGFRB
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.71 KIT PDGFRA PDGFRB
7 phosphatidylinositol-mediated signaling GO:0048015 9.67 KIT PDGFRA PDGFRB
8 positive regulation of MAPK cascade GO:0043410 9.65 CTNNB1 KIT
9 canonical Wnt signaling pathway GO:0060070 9.65 APC CTNNB1
10 hemopoiesis GO:0030097 9.64 CTNNB1 KIT
11 positive regulation of MAP kinase activity GO:0043406 9.64 KIT PDGFRB
12 odontogenesis of dentin-containing tooth GO:0042475 9.63 CTNNB1 PDGFRA
13 stem cell population maintenance GO:0019827 9.63 CTNNB1 KIT
14 phosphatidylinositol phosphorylation GO:0046854 9.63 KIT PDGFRA PDGFRB
15 positive regulation of fibroblast proliferation GO:0048146 9.62 PDGFRA PDGFRB
16 T cell differentiation GO:0030217 9.61 CTNNB1 KIT
17 platelet-derived growth factor receptor signaling pathway GO:0048008 9.61 PDGFRA PDGFRB
18 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.61 KIT PDGFRA PDGFRB
19 beta-catenin destruction complex disassembly GO:1904886 9.59 APC CTNNB1
20 male genitalia development GO:0030539 9.58 CTNNB1 PDGFRA
21 cell chemotaxis GO:0060326 9.58 KIT PDGFRA PDGFRB
22 positive regulation of pseudopodium assembly GO:0031274 9.56 APC KIT
23 cardiac myofibril assembly GO:0055003 9.55 PDGFRA PDGFRB
24 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.54 KIT PDGFRA PDGFRB
25 retina vasculature development in camera-type eye GO:0061298 9.52 PDGFRA PDGFRB
26 negative regulation of platelet-derived growth factor receptor-beta signaling pathway GO:2000587 9.51 PDGFRA PDGFRB
27 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.33 KIT PDGFRA PDGFRB
28 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.32 PDGFRA PDGFRB
29 metanephric glomerular capillary formation GO:0072277 9.26 PDGFRA PDGFRB
30 positive regulation of cell migration GO:0030335 9.26 APC KIT PDGFRA PDGFRB
31 positive regulation of phospholipase C activity GO:0010863 8.8 KIT PDGFRA PDGFRB

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.65 KIT PDGFRA PDGFRB
2 nucleotide binding GO:0000166 9.63 KIT PDGFRA PDGFRB
3 protein kinase binding GO:0019901 9.61 APC CTNNB1 PDGFRB
4 protein tyrosine kinase activity GO:0004713 9.54 KIT PDGFRA PDGFRB
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.43 KIT PDGFRA PDGFRB
6 platelet-derived growth factor receptor binding GO:0005161 9.4 PDGFRA PDGFRB
7 platelet-derived growth factor binding GO:0048407 9.32 PDGFRA PDGFRB
8 vascular endothelial growth factor binding GO:0038085 9.16 PDGFRA PDGFRB
9 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 KIT PDGFRA PDGFRB
10 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.8 KIT PDGFRA PDGFRB

Sources for Desmoid Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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