MCID: FBR019
MIFTS: 43

Fibromatosis malady

Categories: Rare diseases

Aliases & Classifications for Fibromatosis

Aliases & Descriptions for Fibromatosis:

Name: Fibromatosis 50 52 69

Classifications:



Summaries for Fibromatosis

NIH Rare Diseases : 50 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. last updated: 5/10/2010

MalaCards based summary : Fibromatosis is related to gastrointestinal stromal tumor and intestinal obstruction. An important gene associated with Fibromatosis is ANTXR2 (Anthrax Toxin Receptor 2), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Glioma. The drugs Sorafenib and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and bone, and related phenotypes are cardiovascular system and cellular

Wikipedia : 71 The term fibromatosis refers to a group of benign soft tissue tumors which have certain characteristics... more...

Related Diseases for Fibromatosis

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

(show top 50) (show all 242)
id Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 29.5 ACTC1 DES KIT VIM
2 intestinal obstruction 29.2 ACTC1 DES VIM
3 hyaline fibromatosis syndrome 12.3
4 gingival fibromatosis 12.2
5 pseudosarcomatous fibromatosis 12.2
6 infantile digital fibromatosis 12.2
7 fibromatosis, gingival, 1 12.2
8 fibromatosis, gingival, with progressive deafness 12.1
9 plantar fascial fibromatosis 11.9
10 fibromatosis, gingival, 4 11.8
11 fibromatosis, gingival, 3 11.8
12 fibromatosis, gingival, 2 11.8
13 fibromatosis, gingival, with distinctive facies 11.8
14 ledderhose disease 11.8
15 fibromatosis multiple non ossifying 11.7
16 hypertrichosis terminalis, generalized, with or without gingival hyperplasia 11.7
17 zimmermann-laband syndrome 1 11.5
18 desmoid tumor 11.5
19 desmoid disease, hereditary 11.5
20 ramon syndrome 11.2
21 dupuytren contracture dupuytren contracture 1, included 11.2
22 infantile myofibromatosis 11.2
23 dupuytren contracture 11.2
24 peritonitis 11.1
25 amelogenesis imperfecta, type ig 11.0
26 zimmermann-laband syndrome 11.0
27 myofibromatosis, infantile, 1 10.9
28 zimmermann-laband syndrome 2 10.7
29 oculocerebral syndrome with hypopigmentation 10.7
30 peyronie's disease 10.7
31 hyalinosis, inherited systemic 10.7
32 congenital torticollis 10.7
33 calcified aponeurotic fibroma 10.7
34 gingivitis 10.5
35 reticulohistiocytic granuloma 10.2 ANTXR2 DES
36 central nervous system adult germ cell tumor 10.2 ANTXR2 VIM
37 inflammatory linear verrucous epidermal nevus 10.2 DES VIM
38 breast ductal carcinoma 10.2 CTNNB1 PGR
39 biliary papillomatosis 10.2 DES VIM
40 tanycytic ependymoma 10.2 DES VIM
41 oral erosive lichen 10.2 ACTC1 DES
42 papilloma 10.2 CTNNB1 PGR
43 vagina leiomyosarcoma 10.2 ACTC1 DES
44 cavernous sinus meningioma 10.2 DES VIM
45 male reproductive system disease 10.2 DES VIM
46 lymphomatoid papulosis 10.2 ACTC1 VIM
47 petrous apex meningioma 10.2 DES VIM
48 macular degeneration, early-onset 10.2 APC CTNNB1
49 chest wall parachordoma 10.2 ACTC1 VIM
50 isolated anterior cervical hypertrichosis 10.2 ACTC1 VIM

Graphical network of the top 20 diseases related to Fibromatosis:



Diseases related to Fibromatosis

Symptoms & Phenotypes for Fibromatosis

MGI Mouse Phenotypes related to Fibromatosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 PGR SOS1 VIM ACTC1 ANTXR2 APC
2 cellular MP:0005384 10.09 ACTC1 ANTXR2 APC CTNNB1 DES KIT
3 homeostasis/metabolism MP:0005376 9.97 ACTC1 APC CTNNB1 DES KIT PGR
4 mortality/aging MP:0010768 9.91 ACTC1 ANTXR2 APC CTNNB1 DES KIT
5 embryo MP:0005380 9.88 CTNNB1 KIT PGR SOS1 VIM APC
6 immune system MP:0005387 9.87 ANTXR2 APC CTNNB1 KIT PGR SOS1
7 muscle MP:0005369 9.76 ACTC1 APC CTNNB1 DES KIT PGR
8 no phenotypic analysis MP:0003012 9.43 ANTXR2 APC CTNNB1 KIT PGR SOS1
9 reproductive system MP:0005389 9.1 ANTXR2 APC CTNNB1 KIT PGR VIM

Drugs & Therapeutics for Fibromatosis

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

(show top 50) (show all 74)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
4
Nicotinamide Approved, Nutraceutical Phase 3 98-92-0 936
5 Vitamin B Complex Phase 3,Phase 2
6 Protein Kinase Inhibitors Phase 3,Phase 1,Phase 2
7 Nicotinic Acids Phase 3
8 Trace Elements Phase 3
9 Vitamins Phase 3
10 Micronutrients Phase 3
11 Folate Nutraceutical Phase 3,Phase 2
12 Vitamin B9 Nutraceutical Phase 3,Phase 2
13 Vitamin B3 Nutraceutical Phase 3
14
Toremifene Approved, Investigational Phase 2 89778-26-7 3005573
15
Vinblastine Approved Phase 2 865-21-4 13342 241903
16
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
17
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
18
Tamoxifen Approved Phase 2,Phase 1 10540-29-1 2733526
19
Aminolevulinic acid Approved Phase 2 106-60-5 137
20
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
21
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
22
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
23
Sulindac Approved Phase 2 38194-50-2 5352 1548887
24
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
25 Selective Estrogen Receptor Modulators Phase 2,Phase 1
26 Hormone Antagonists Phase 2,Phase 1
27 Hormones Phase 2,Phase 1
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
29 Estrogen Receptor Modulators Phase 2,Phase 1
30 Estrogens Phase 2,Phase 1
31 Antineoplastic Agents, Hormonal Phase 2,Phase 1
32 Bone Density Conservation Agents Phase 2,Phase 1
33 Imatinib Mesylate Phase 1, Phase 2 123596
34 Folic Acid Antagonists Phase 2
35 Nucleic Acid Synthesis Inhibitors Phase 2
36 Dermatologic Agents Phase 2
37 Angiogenesis Inhibitors Phase 2
38 Angiogenesis Modulating Agents Phase 2
39 Immunosuppressive Agents Phase 2,Phase 1
40 Antimetabolites Phase 2
41 Antimetabolites, Antineoplastic Phase 2
42 Antimitotic Agents Phase 2
43 Antirheumatic Agents Phase 2
44 Antineoplastic Agents, Phytogenic Phase 2
45 Calcium, Dietary Phase 2
46 Anesthetics Phase 2
47 Pharmaceutical Solutions Phase 2
48 Estrogen Antagonists Phase 2,Phase 1
49 Anti-Bacterial Agents Phase 1, Phase 2
50 Photosensitizing Agents Phase 2

Interventional clinical trials:

(show all 33)
id Name Status NCT ID Phase
1 Prospective Trial Comparing the Performance Profiles of Two Non-Cross-Linked Porcine Dermal Matrices in Abdominal Wall Reconstruction Recruiting NCT02228889 Phase 4
2 Sorafenib Tosylate in Treating Patients With Desmoid Tumors or Aggressive Fibromatosis Active, not recruiting NCT02066181 Phase 3
3 Toremifene in Desmoid Tumor: Prospective Clinical Trial and Identification of Potential Molecular Targets Unknown status NCT02353429 Phase 2
4 Dupuytren's Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010) Unknown status NCT01184586 Phase 2
5 Radiation Therapy in Treating Patients With Aggressive Fibromatoses Completed NCT00030680 Phase 2
6 Imatinib Mesylate in Treating Patients With Recurrent or Refractory Fibromatosis Completed NCT00287846 Phase 1, Phase 2
7 Study to Evaluate Imatinib in Desmoid Tumors Completed NCT01137916 Phase 2
8 Vinblastine and Methotrexate in Treating Children With Desmoid Tumors Completed NCT00003019 Phase 2
9 Toremifene in Treating Patients With Desmoid Tumors Completed NCT00002595 Phase 2
10 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2
11 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2
12 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
13 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
14 PAZOPANIB Efficacy and Tolerance in Desmoids Tumors Recruiting NCT01876082 Phase 2
15 Phase II Trial of the Gamma-Secretase Inhibitor PF-03084014 in Adults With Desmoid Tumors/Aggressive Fibromatosis Active, not recruiting NCT01981551 Phase 2
16 A Trial of Imatinib for Patients With Aggressive Desmoid Tumor (Aggressive Fibromatosis) Active, not recruiting NCT02495519 Phase 2
17 Sulindac and Tamoxifen in Treating Patients With Desmoid Tumor Active, not recruiting NCT00068419 Phase 2
18 Imatinib in Patients With Desmoid Tumor and Chondrosarcoma Active, not recruiting NCT00928525 Phase 2
19 Effect of Hydroxyurea as Treatment for Primary Desmoid Tumors Withdrawn NCT00978146 Phase 2
20 Endoxifen in Adults With Hormone Receptor Positive Solid Tumors Recruiting NCT01273168 Phase 1
21 Knee Stiffness in Fibrosis Diathesis Unknown status NCT02294890
22 Genes Associated With Hereditary and Drug-Induced Gingival Overgrowth Completed NCT00104026
23 A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome Completed NCT01286662
24 Studying Genes in Tissue Samples From Younger and Adolescent Patients With Soft Tissue Sarcomas Completed NCT01567046
25 National Clinical-biological Prospective Cohort of Incident Cases of Aggressive Fibromatosis (ALTITUDES) Recruiting NCT02867033
26 Peripheral Primitive Fibromatosis Recruiting NCT01801176
27 Tailored Beta-catenin Mutational Approach in Extra-abdominal Sporadic Desmoids Tumor Patients Recruiting NCT02547831
28 18F-FES PET/CT in Imaging Patients With Desmoid Tumors Recruiting NCT02374931
29 Optional Sub-study to Intraoperative Imaging With ICG Registry Recruiting NCT02651246
30 Evaluation of the Cryodestruction of Non Abdominopelvic Desmoid Tumors in Patients Progressing Despite Medical Treatment Recruiting NCT02476305
31 Collecting and Storing Tissue, Blood, and Bone Marrow Samples From Patients With Rhabdomyosarcoma or Other Soft Tissue Sarcoma Recruiting NCT00919269
32 Natural Disease Progress of Dupuytren Disease Active, not recruiting NCT01923103
33 Compassionate Use Protocol for PF-03084014 in Patients With Advanced Solid Tumor Malignancies Available NCT02955446

Search NIH Clinical Center for Fibromatosis

Genetic Tests for Fibromatosis

Anatomical Context for Fibromatosis

MalaCards organs/tissues related to Fibromatosis:

39
Breast, Skin, Bone, Colon, Tongue, Lung, Thyroid

Publications for Fibromatosis

Articles related to Fibromatosis:

(show top 50) (show all 827)
id Title Authors Year
1
Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. ( 28103792 )
2017
2
Plantar Fascial Fibromatosis: Two Cases Treated With Low-Energy Focused Shock Waves. ( 28002162 )
2017
3
Erratum to: Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome. ( 28148224 )
2017
4
Spatio-temporal genetic heterogeneity of CTNNB1 mutations in sporadic desmoid type fibromatosis lesions. ( 26666421 )
2016
5
Cicatricial Fibromatosis Diagnosis after Suspected Local Recurrence at the Bronchial Stump Following Lobectomy for Lung Cancer. ( 27064987 )
2016
6
Comparison of I^-Catenin and LEF1 Immunohistochemical Stains in Desmoid-type Fibromatosis and its Selected Mimickers, With Unexpected Finding of LEF1 Positivity in Scars. ( 28027119 )
2016
7
Case of infantile digital fibromatosis: Observation of its dermoscopic features. ( 27859517 )
2016
8
Diode Laser Versus Scalpel in the Treatment of Hereditary Gingival Fibromatosis in a 6-Year Old Boy. ( 27994842 )
2016
9
Active plantar fibromatosis occurring under anti-TNFI+ therapy for spondyloarthritis. ( 27324608 )
2016
10
The etiopathogenesis of uterine fibromatosis. ( 27974911 )
2016
11
An Aggressive Retroperitoneal Fibromatosis. ( 27147794 )
2016
12
Benign Nerve Sheath Myxoma in an Infant Misdiagnosed as Infantile Digital Fibromatosis. ( 27196676 )
2016
13
Extra-abdominal desmoid fibromatosis: A review of management, current guidance and unanswered questions. ( 26965303 )
2016
14
Early experience: high-intensity focused ultrasound treatment for intra-abdominal aggressive fibromatosis of failure in surgery. ( 27052682 )
2016
15
Desmoid-type fibromatosis of the head and neck in children: a case report and review of the literature. ( 27286970 )
2016
16
Idiopathic Gingival Fibromatosis: Case Report and Review of the Literature. ( 27043333 )
2016
17
Massively Distended Abdomen Caused by Fibromatosis Previously Misdiagnosed as Myxofibrosarcoma. ( 27858546 )
2016
18
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. ( 27174544 )
2016
19
Hereditary gingival fibromatosis with extreme ridge thickness and insufficient interarch distance: A clinical report of surgical and prosthetic management. ( 26873770 )
2016
20
Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis. ( 27061595 )
2016
21
Combination chemotherapy with methotrexate and vinblastine for surgically unresectable, aggressive fibromatosis. ( 27365524 )
2016
22
Ultrastructural evaluation of gingival connective tissue in hereditary gingival fibromatosis. ( 27260277 )
2016
23
Fibromatosis Associated With Neuromuscular Choristoma: Evaluation by FDG PET/CT. ( 28005643 )
2016
24
A case of thyroid fibromatosis, a rare lesion of this gland. ( 27855230 )
2016
25
Iodine-125 Interstitial Brachytherapy for Pediatric Desmoid-Type Fibromatosis of the Head and Neck: A Case Report. ( 27875709 )
2016
26
Papillary thyroid carcinoma with nodular fasciitis-like stroma and I^-catenin mutations should be renamed papillary thyroid carcinoma with desmoid-type fibromatosis. ( 27713418 )
2016
27
An Uncommon Cause of Mid-foot Pain: Ultrasound Imaging for Plantar Fibromatosis and Entrapment of the Lateral Plantar Nerve. ( 27056958 )
2016
28
Pregnancy after abdominal wall mesh repair in desmoid fibromatosis. ( 28007018 )
2016
29
Infantile Digital Fibromatosis: A Rare Case Report. ( 27057032 )
2016
30
Desmoid-type fibromatosis of the breast. A case report. ( 27612042 )
2016
31
Mesenteric Fibromatosis in Crohn's Disease as a Potential Effect of Adalimumab. ( 27144199 )
2016
32
Gingival Fibromatosis with Significant De Novo Formation of Fibrotic Tissue and a High Rate of Recurrence. ( 27609299 )
2016
33
Idiopathic gingival fibromatosis with asymmetrical presentation and electrosurgical management. ( 27041849 )
2016
34
Bilateral perirenal space fibromatosis with renal infiltration: case report and review of literature. ( 27920876 )
2016
35
Inflammatory myofibroblastic tumor with RANBP2 and ALK gene rearrangement with bland cytological features mimicking desmoid-type fibromatosis: A case report and review of the literature. ( 26893756 )
2016
36
Gingival fibromatosis: clinical, molecular and therapeutic issues. ( 26818898 )
2016
37
Pazopanib: a novel treatment option for aggressive fibromatosis. ( 27957320 )
2016
38
CTNNB1 Mutations and Estrogen Receptor Expression in Neuromuscular Choristoma and Its Associated Fibromatosis. ( 27259010 )
2016
39
Desmoid Fibromatosis Presenting as Deep Venous Thrombosis: A Case Report and Discussion. ( 27994217 )
2016
40
A Rare Cervical Dystonia Mimic in Adults: Congenital Muscular Torticollis (Fibromatosis colli), a Follow-up. ( 26869987 )
2016
41
Giant maxillary gingival fibromatosis. ( 27791424 )
2016
42
Primary Desmoid-Type Fibromatosis of the Mesentery: Report of an Unusual Tumor Localization. ( 27389142 )
2016
43
Hyaline Fibromatosis Syndrome: A Rare Inherited Disorder. ( 27688461 )
2016
44
Genetic analysis of hereditary gingival fibromatosis using whole exome sequencing and bioinformatics. ( 27614106 )
2016
45
Desmoid-Type Fibromatosis of the Tongue. ( 27091208 )
2016
46
Long-term outcomes of 47 patients with aggressive fibromatosis of the chest treated with surgery. ( 27425579 )
2016
47
Image Gallery: Complete remission of aggressive desmoid-type fibromatosis after low-dose methotrexate for 2A weeks in a child with psoriasis. ( 27650749 )
2016
48
Desmoid fibromatosis: MRI features of response to systemic therapy. ( 27502790 )
2016
49
Pediatric desmoid fibromatosis of the parapharyngeal space: A case report and review of literature. ( 27040413 )
2016
50
Morphologic Spectrum of Desmoid-Type Fibromatosis. ( 27124915 )
2016

Variations for Fibromatosis

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 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 APC CTNNB1 KIT SOS1 VIM
2
Show member pathways
12.51 APC CTNNB1 KIT PGR SOS1
3 12.33 APC CTNNB1 KIT SOS1
4
Show member pathways
12.1 APC CTNNB1 KIT
5 11.9 APC CTNNB1 SOS1
6
Show member pathways
11.64 APC CTNNB1 VIM
7 11.6 APC CTNNB1 SOS1
8 11.54 APC CTNNB1 SOS1
9
Show member pathways
11.28 APC CTNNB1 KIT SOS1
10 11.19 ACTC1 DES VIM
11 11.06 CTNNB1 VIM
12 11.02 APC CTNNB1
13 10.96 APC CTNNB1 SOS1
14 10.9 APC CTNNB1
15 10.84 ANTXR2 PGR
16 10.73 APC CTNNB1
17 10.66 KIT SOS1

GO Terms for Fibromatosis

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.83 ACTC1 APC CTNNB1 DES VIM
2 cell-cell junction GO:0005911 9.54 CTNNB1 DES KIT
3 lamellipodium GO:0030027 9.5 ACTC1 APC CTNNB1
4 Wnt signalosome GO:1990909 9.26 APC CTNNB1
5 beta-catenin destruction complex GO:0030877 9.16 APC CTNNB1
6 fascia adherens GO:0005916 8.96 CTNNB1 DES
7 catenin complex GO:0016342 8.62 APC CTNNB1
8 cytosol GO:0005829 10.06 ACTC1 APC CTNNB1 DES PGR SAMD9
9 cytoplasm GO:0005737 10.06 ACTC1 APC CTNNB1 DES KIT PGR

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.46 ACTC1 CTNNB1 KIT VIM
2 T cell differentiation GO:0030217 9.4 CTNNB1 KIT
3 beta-catenin destruction complex disassembly GO:1904886 9.37 APC CTNNB1
4 intermediate filament organization GO:0045109 9.32 DES VIM
5 positive regulation of pseudopodium assembly GO:0031274 9.26 APC KIT
6 regulation of T cell proliferation GO:0042129 8.96 CTNNB1 SOS1
7 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Sources for Fibromatosis

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
Content
Loading form....