MCID: FBR019
MIFTS: 47

Fibromatosis

Categories: Cancer diseases, Rare diseases

Aliases & Classifications for Fibromatosis

MalaCards integrated aliases for Fibromatosis:

Name: Fibromatosis 53 55 17 72

Classifications:



External Ids:

UMLS 72 C0016048

Summaries for Fibromatosis

NIH Rare Diseases : 53 Fibromatosis refers to a group of conditions characterized by overgrowths of skin and connective tissue called fibromas. These fibromas are usually benign (non-cancerous). Fibromatosis can be classified by a person's age or by the location of the fibromas. The cause of fibromatosis is often unknown, and treatment depends on the individual disease.

MalaCards based summary : Fibromatosis is related to infantile digital fibromatosis and desmoid disease, hereditary. An important gene associated with Fibromatosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and PI3K-Akt signaling pathway. The drugs Sorafenib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and skin, and related phenotypes are cardiovascular system and cellular

Wikipedia : 75 The term fibromatosis refers to a group of soft tissue tumors which have certain characteristics in... more...

Related Diseases for Fibromatosis

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

(show top 50) (show all 475)
# Related Disease Score Top Affiliating Genes
1 infantile digital fibromatosis 34.0 VIM DES
2 desmoid disease, hereditary 33.9 CTNNB1 APC
3 desmoid tumor 33.4 KIT CTNNB1 APC
4 pseudosarcomatous fibromatosis 32.2 VIM DES CTNNB1 ACTC1
5 gingival hypertrophy 31.2 VIM ANTXR2
6 familial adenomatous polyposis 1 31.1 CTNNB1 APC
7 fasciitis 30.4 DES ACTC1
8 benign breast phyllodes tumor 30.3 VIM KIT
9 gingival disease 30.1 SOS1 ANTXR2
10 fibroblastic rheumatism 29.7 DES ACTC1
11 perineurioma 29.5 VIM KIT
12 granular cell tumor 29.5 VIM DES
13 infantile myofibromatosis 29.4 VIM DES ACTC1
14 spindle cell carcinoma 29.4 VIM DES ACTC1
15 neurilemmoma 29.4 VIM KIT DES
16 non-langerhans-cell histiocytosis 29.4 DES ACTC1
17 congenital fibrosarcoma 29.3 VIM DES ACTC1
18 fibrous histiocytoma 29.3 VIM DES ACTC1
19 spindle cell sarcoma 29.3 VIM DES ACTC1
20 muscle cancer 29.2 KIT DES
21 juvenile nasopharyngeal angiofibroma 29.1 KIT ACTC1
22 gastrointestinal stromal tumor 28.9 VIM KIT DES ACTC1
23 rhabdomyosarcoma 28.9 VIM DES ACTC1
24 hemangiopericytoma, malignant 28.8 VIM DES ACTC1
25 malignant fibroxanthoma 28.8 VIM DES ACTC1
26 sarcoma, synovial 28.8 VIM KIT DES CTNNB1
27 leiomyoma 28.7 VIM KIT DES ACTC1
28 cutaneous fibrous histiocytoma 28.6 VIM DES ACTC1
29 reticulum cell sarcoma 28.6 VIM DES ACTC1
30 glomus tumor 28.6 VIM DES ACTC1
31 giant cell tumor 28.6 VIM DES ACTC1
32 leiomyosarcoma 28.4 VIM KIT DES ACTC1
33 dermatofibrosarcoma protuberans 28.4 VIM KIT DES ACTC1
34 smooth muscle tumor 27.9 VIM KIT DES ACTC1
35 inflammatory myofibroblastic tumor 27.9 VIM KIT DES ACTC1
36 medulloblastoma 27.9 REST DES CTNNB1 APC ACTC1
37 hyaline fibromatosis syndrome 12.8
38 fibromatosis, gingival, 1 12.8
39 fibromatosis, gingival, 2 12.6
40 fibromatosis, gingival, 4 12.6
41 fibromatosis, gingival, 5 12.6
42 fibromatosis, gingival, with progressive deafness 12.6
43 gingival fibromatosis 12.5
44 plantar fascial fibromatosis 12.4
45 fibromatosis, gingival, 3 12.4
46 fibromatosis, gingival, with distinctive facies 12.3
47 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.3
48 ledderhose disease 12.3
49 superficial fibromatosis 12.3
50 zimmermann-laband syndrome 1 12.3

Graphical network of the top 20 diseases related to Fibromatosis:



Diseases related to Fibromatosis

Symptoms & Phenotypes for Fibromatosis

MGI Mouse Phenotypes related to Fibromatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.09 ACTC1 ANTXR2 APC CTNNB1 DES KIT
2 cellular MP:0005384 10.06 ACTC1 ANTXR2 APC CTNNB1 DES KIT
3 mortality/aging MP:0010768 9.97 ACTC1 ANTXR2 APC CTNNB1 DES KIT
4 embryo MP:0005380 9.85 APC CTNNB1 KIT REST SOS1 VIM
5 muscle MP:0005369 9.8 ACTC1 APC CTNNB1 DES KIT SOS1
6 reproductive system MP:0005389 9.43 ANTXR2 APC CTNNB1 KIT REST VIM
7 no phenotypic analysis MP:0003012 9.33 ANTXR2 CTNNB1 KIT
8 vision/eye MP:0005391 9.1 APC CTNNB1 KIT REST SOS1 VIM

Drugs & Therapeutics for Fibromatosis

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

(show top 50) (show all 89)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
2 Protein Kinase Inhibitors Phase 3
3
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
4
Sulindac Approved, Investigational Phase 2 38194-50-2 5352 1548887
5
Sodium citrate Approved, Investigational Phase 2 68-04-2
6
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
7
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
8
Vinblastine Approved Phase 2 865-21-4 241903 13342
9
leucovorin Approved Phase 2 58-05-9 143 6006
10
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
11
Aminolevulinic acid Approved Phase 2 106-60-5 137
12
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
13
nivolumab Approved Phase 2 946414-94-4
14
Ipilimumab Approved Phase 2 477202-00-9
15
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616 46835353
16
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
17
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
18
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
19
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
21 Calcium, Dietary Phase 2
22 Citrate Phase 2
23 Chelating Agents Phase 2
24 Anticoagulants Phase 2
25 Angiogenesis Inhibitors Phase 2
26 Angiogenesis Modulating Agents Phase 2
27 Tubulin Modulators Phase 2
28 Folic Acid Antagonists Phase 2
29 Antineoplastic Agents, Phytogenic Phase 2
30 Folate Phase 2
31 Vitamin B9 Phase 2
32 Vitamin B Complex Phase 2
33 Dermatologic Agents Phase 2
34 Antimitotic Agents Phase 2
35 Antimetabolites Phase 2
36 Antimetabolites, Antineoplastic Phase 2
37
Liposomal doxorubicin Phase 2 31703
38 Topoisomerase Inhibitors Phase 2
39 Pharmaceutical Solutions Phase 2
40 Anesthetics Phase 2
41 Photosensitizing Agents Phase 2
42 Albumin-Bound Paclitaxel Phase 2
43 Antibodies Phase 2
44 Antineoplastic Agents, Immunological Phase 2
45 Immunoglobulins Phase 2
46 Antibodies, Monoclonal Phase 2
47 Imatinib Mesylate Phase 2 220127-57-1 123596
48 Immunologic Factors Phase 1, Phase 2
49 Immunosuppressive Agents Phase 1, Phase 2
50 Anti-Bacterial Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Prospective Trial Comparing the Performance Profiles of Two Non-Cross-Linked Porcine Dermal Matrices in Abdominal Wall Reconstruction Recruiting NCT02228889 Phase 4
2 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Nirogacestat Versus Placebo in Adult Patients With Progressing Desmoid Tumors/Aggressive Fibromatosis (DT/AF) Recruiting NCT03785964 Phase 3 Nirogacestat oral tablet;Placebo Oral Tablet
3 Ledderhose Disease: Radiotherapy or Not? A Randomised, Multicentre, Prospective, Double Blind Phase III Trial Investigating the Effect of Radiotherapy on Patients With Ledderhose Disease Recruiting NCT03507010 Phase 3
4 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
5 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2 Toremifene
6 Dupuytren's Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010) - a Randomized Trial Unknown status NCT01184586 Phase 2
7 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
8 A Phase II Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Completed NCT02495519 Phase 2 Imatinib
9 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
10 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
11 Phase II Pilot Study Of Moderate Dose Radiotherapy For Inoperable Aggressive Fibromatoses Completed NCT00030680 Phase 2
12 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
13 PHASE II STUDY OF THE SAFETY AND EFFICACY OF TOREMIFENE IN THE THERAPY OF DESMOID TUMORS Completed NCT00002595 Phase 2 toremifene
14 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
15 Vinblastine and Methotrexate in Children With Multivessel Pulmonary Vein Stenosis-A Phase II Study Completed NCT00215046 Phase 2 Vinblastine;Methotrexate
16 Doxorubicin Eluting Intra-arterial Embolization for Aggressive Desmoid Fibromatosis Recruiting NCT03966742 Phase 2
17 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
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 A Phase I/IIA, Multi-Centre, Open-Label, Dose-Escalation Study With Expansion Arms to Assess the Safety, Tolerability, Pharmacokinetics and Preliminary Efficacy of CB-103 Administered Orally in Adult Patients With Advanced or Metastatic Solid Tumours and Haematological Malignancies Characterised by Alterations of the NOTCH Signalling Pathway Recruiting NCT03422679 Phase 1, Phase 2 CB-103
20 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors : Phase 2 Clinical Trial Recruiting NCT01876082 Phase 2 PAZOPANIB treatment;Active Comparator: Vinblastine and Methotrexate
21 Phase II Trial of Nab-paclitaxel for the Treatment of Desmoid Tumors and Multiply Relapsed/Refractory Desmoplastic Small Round Cell Tumors and Ewing Sarcoma Recruiting NCT03275818 Phase 2 nab paclitaxel
22 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
23 Open-label Trial of Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2 Imatinib Mesylate
24 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
25 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
26 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors in Adults and Children (CHP-914) Withdrawn NCT00978146 Phase 2 Hydroxyurea
27 A Pilot Study of Intralesional Injection of Triamcinolone Acetonide for Desmoid Tumors Recruiting NCT03627741 Phase 1 Triamcinolone Acetonide
28 Phase 1 Trial of BC2059 (Tegavivint) in Patients With Unresectable Desmoid Tumor Recruiting NCT03459469 Phase 1 Tegavivint
29 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
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 Peripheral Primitive Fibromatosis. Study Evaluating a Simple Initial Monitoring With Search of Scalability Predictive Factors and Registration of Treatments in Case of Progression Unknown status NCT01801176
32 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Unknown status NCT02547831
33 Does Fibrosis Diathesis Influence the Recovery of Knee Mobility After Total Knee Replacement? Unknown status NCT02294890
34 Genes Associated With Hereditary and Drug-Induced Gingival Overgrowth Completed NCT00104026
35 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
36 Observational - Potentially Actionable Mutations in Archived Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) Completed NCT01567046
37 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Completed NCT02476305
38 Sentinel Lymph Node Biopsy in Porocarcinoma: A Case Reports Completed NCT03647631
39 Biomarker for Hyaline Fibromatosis Syndrome - An International, Multicenter, Epidemiological Protocol Recruiting NCT03196115
40 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
41 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis Recruiting NCT02867033
42 The Project: EveryChild Protocol: A Registry, Eligibility Screening, Biology and Outcome Study Recruiting NCT02402244
43 Pilot Investigation of 18F-FES PET/CT Imaging of Desmoid Tumors Active, not recruiting NCT02374931 Early Phase 1 F-18 16 Alpha-Fluoroestradiol
44 Natural Disease Progress of Dupuytren Disease Active, not recruiting NCT01923103
45 A COG Soft Tissue Sarcoma Diagnosis, Biology and Banking Protocol Active, not recruiting NCT00919269
46 Role of Doppler Ultrasound in Evaluation of Superficial Soft Tissue Masses Not yet recruiting NCT03171857
47 Effect of Pulsed Radiofrequency to the Suprascapular Nerve in Treating Frozen Shoulder Pain Not yet recruiting NCT03456531 NSAIDs "ibubrofen,Aspirin"
48 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

Search NIH Clinical Center for Fibromatosis

Genetic Tests for Fibromatosis

Anatomical Context for Fibromatosis

MalaCards organs/tissues related to Fibromatosis:

41
Breast, Bone, Skin, Thyroid, Colon, Tongue, Lymph Node

Publications for Fibromatosis

Articles related to Fibromatosis:

(show top 50) (show all 3359)
# Title Authors PMID Year
1
Paratesticular fibrous pseudotumor: a morphologic and immunohistochemical study of 13 cases. 9 38
20216379 2010
2
[Gardner fibroma: case report and discussion of a new soft tissue tumor entity]. 9 38
20063100 2010
3
High frequency of beta-catenin heterozygous mutations in extra-abdominal fibromatosis: a potential molecular tool for disease management. 9 38
20197769 2010
4
Prognostic factors in desmoid-type fibromatosis: a clinicopathological and immunohistochemical analysis of 46 cases. 9 38
20085516 2010
5
[Expression of beta-catenin and estrogen receptor in desmoid-type fibromatosis]. 9 38
20369480 2010
6
Beta-catenin expression in pediatric fibroblastic and myofibroblastic lesions: a study of 100 cases. 9 38
18939887 2009
7
Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum. 9 38
19191226 2009
8
Pediatric aggressive fibromatosis of the head and neck: a 20-year retrospective review. 9 38
18778992 2008
9
Beta-catenin mutations do not contribute to cardiac fibroma pathogenesis. 9 38
18078366 2008
10
Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. 9 38
17711447 2007
11
Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. 9 38
17721184 2007
12
Characterization of the interaction between anthrax toxin and its cellular receptors. 9 38
17381430 2007
13
Preoperative treatment of uterine leiomyomas: clinical findings and expression of transforming growth factor-beta3 and connective tissue growth factor. 9 38
16697947 2006
14
Differential expression of smooth muscle myosin, smooth muscle actin, h-caldesmon, and calponin in the diagnosis of myofibroblastic and smooth muscle lesions of skin and soft tissue. 9 38
16625070 2006
15
[Clonality study of palmar fibromatosis]. 9 38
16776980 2006
16
L1 (CD171) is highly expressed in gastrointestinal stromal tumors. 9 38
16400320 2006
17
Desmoplastic fibroma of bone: an immunohistochemical study including beta-catenin expression and mutational analysis for beta-catenin. 9 38
16153468 2005
18
Nuclear beta-catenin expression distinguishes deep fibromatosis from other benign and malignant fibroblastic and myofibroblastic lesions. 9 38
15832090 2005
19
Nuclear beta-catenin in mesenchymal tumors. 9 38
15375433 2005
20
Response of estrogen receptor-positive intraabdominal fibromatosis to aromatase inhibitor therapy. 9 38
14607040 2003
21
Matrix metalloproteinases and tissue inhibitors of metalloproteinases in sera and tissue of patients with Dupuytren's disease. 9 38
14504511 2003
22
An immunohistochemical study of metaplastic spindle cell carcinoma, phyllodes tumor and fibromatosis of the breast. 9 38
14608534 2003
23
Beta-catenin expression in Dupuytren's disease: potential role for cell-matrix interactions in modulating beta-catenin levels in vivo and in vitro. 9 38
12802275 2003
24
[Immunohistochemical differentiation of leiomyocellular tumors and tumors with myogenic differentiation]. 9 38
12874903 2003
25
Beta-catenin immunohistochemistry separates mesenteric fibromatosis from gastrointestinal stromal tumor and sclerosing mesenteritis. 9 38
12360044 2002
26
Fibromatosis of the breast and mutations involving the APC/beta-catenin pathway. 9 38
11823972 2002
27
Superficial fibromatoses are genetically distinct from deep fibromatoses. 9 38
11455002 2001
28
Primary fibromatosis of the breast in a patient with multiple desmoid tumors--report of a case with evaluation of estrogen and progesterone receptors. 9 38
11770022 2001
29
Fibromatosis of the breast: age-correlated morphofunctional features of 33 cases. 9 38
10656738 2000
30
APC and beta-catenin in alveolar soft part sarcoma (ASPS)--immunohistochemical and molecular genetic analysis. 9 38
10834386 2000
31
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. 9 38
8968744 1996
32
TGF beta and bFGF synthesis and localization in Dupuytren's disease (nodular palmar fibromatosis) relative to cellular activity, myofibroblast phenotype and oncofetal variants of fibronectin. 9 38
8789403 1995
33
Differential expression of fibronectin splice variants, oncofetal glycosylated fibronectin and laminin isoforms in nodular palmar fibromatosis. 9 38
8822112 1995
34
Oestrogen and progesterone receptor expression in mammary fibromatosis. 9 38
8496393 1993
35
Infantile digital fibromatosis. Immunohistochemical and immunoelectron microscopic studies. 9 38
1697612 1990
36
Antifibrotic Potential of MiR-335-3p in Hereditary Gingival Fibromatosis. 38
31323181 2019
37
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum. 38
31131956 2019
38
Neurovascular alterations of muscularis propria in the human anterior vaginal wall in pelvic organ prolapse. 38
31148163 2019
39
Not all abdominal masses after colorectal cancer surgery are malignant: intra-abdominal fibromatosis masquerading as recurrence. 38
30927550 2019
40
[Is there a magic bullet for sarcomas? : Personalised treatment for maligant tumours of bone and soft tissue]. 38
31396640 2019
41
Breast fibromatosis: Making the case for primary vs secondary subtypes. 38
31429159 2019
42
Wearable haptic interfaces for applications in gynecologic robotic surgery: a proof of concept in robotic myomectomy. 38
31062181 2019
43
Desmoid-type fibromatosis of the head and neck in children: A changing situation. 38
31059930 2019
44
Targeted therapy of desmoid-type fibromatosis: mechanism, current situation, and future prospects. 38
30798508 2019
45
Largest size of extra-abdominal fibromatosis of axilla in a young man. 38
31375508 2019
46
Exomic and transcriptomic alterations of hereditary gingival fibromatosis. 38
30907493 2019
47
SOX11 expression in a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma containing BRAF c.1799_1801delTGA and CTNNB1 c.133T>C mutations. 38
31327063 2019
48
Stomatitis and Hyperpigmented Papules and Plaques in a Patient With a Desmoid-Type Fibromatosis Tumor: Challenge. 38
31343424 2019
49
Abnormal Presentation of Aggressive Fibromatosis After Radiotherapy for Keloids: Case Report and Brief Literature Review. 38
30557185 2019
50
Mesenteric Fibromatosis: A Case Report. 38
31391444 2019

Variations for Fibromatosis

Cosmic variations for Fibromatosis:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM575 NRAS soft tissue,skin,sarcoma,NS c.38G>C p.G13A 1:114716123-114716123 3

Expression for Fibromatosis

Search GEO for disease gene expression data for Fibromatosis.

Pathways for Fibromatosis

Pathways related to Fibromatosis according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 VIM SOS1 KIT CTNNB1 APC
2
Show member pathways
12.73 SOS1 KIT CTNNB1 APC
3
Show member pathways
12.61 SOS1 KIT CTNNB1 APC
4 12.57 SOS1 KIT CTNNB1 APC
5
Show member pathways
12.44 SOS1 KIT CTNNB1 APC
6
Show member pathways
12.09 SOS1 KIT CTNNB1 APC
7 11.92 SOS1 CTNNB1 APC
8 11.78 REST CTNNB1 APC
9 11.65 VIM REST CTNNB1 APC
10
Show member pathways
11.64 VIM CTNNB1 APC
11 11.6 SOS1 CTNNB1 APC
12 11.54 SOS1 CTNNB1 APC
13
Show member pathways
11.49 VIM REST CTNNB1 APC
14 11.24 CTNNB1 APC
15 11.2 CTNNB1 ACTC1
16 11.19 VIM DES ACTC1
17 11.09 VIM CTNNB1
18 11.05 CTNNB1 APC
19 10.94 CTNNB1 APC
20 10.77 CTNNB1 APC
21 10.64 SOS1 KIT
22 10.63 SOS1 CTNNB1 APC

GO Terms for Fibromatosis

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.91 VIM SOS1 SAMD9 REST KIT DES
2 cytoskeleton GO:0005856 9.85 VIM DES CTNNB1 APC ACTC1
3 lamellipodium GO:0030027 9.54 CTNNB1 APC ACTC1
4 cell-cell junction GO:0005911 9.5 KIT DES CTNNB1
5 catenin complex GO:0016342 9.4 CTNNB1 APC
6 beta-catenin destruction complex GO:0030877 9.16 CTNNB1 APC
7 Wnt signalosome GO:1990909 8.96 CTNNB1 APC
8 fascia adherens GO:0005916 8.62 DES CTNNB1
9 cytosol GO:0005829 10.03 VIM SOS1 SAMD9 REST DES CTNNB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.67 VIM KIT CTNNB1 ACTC1
2 regulation of cell differentiation GO:0045595 9.51 CTNNB1 APC
3 T cell differentiation GO:0030217 9.49 KIT CTNNB1
4 negative regulation of neurogenesis GO:0050768 9.48 REST CTNNB1
5 beta-catenin destruction complex disassembly GO:1904886 9.46 CTNNB1 APC
6 positive regulation of apoptotic process GO:0043065 9.46 SOS1 REST CTNNB1 APC
7 cell fate specification GO:0001708 9.43 CTNNB1 APC
8 intermediate filament organization GO:0045109 9.4 VIM DES
9 regulation of osteoblast differentiation GO:0045667 9.32 REST CTNNB1
10 positive regulation of pseudopodium assembly GO:0031274 9.26 KIT APC
11 regulation of T cell proliferation GO:0042129 8.96 SOS1 CTNNB1
12 muscle filament sliding GO:0030049 8.8 VIM DES ACTC1

Sources for Fibromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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