MCID: FBR019
MIFTS: 47

Fibromatosis malady

Summaries for Fibromatosis

Sources:
43NIH Rare Diseases, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Fibromatosis is related to fibromatosis, gingival and desmoid tumor. An important gene associated with Fibromatosis is SOS1 (son of sevenless homolog 1 (Drosophila)), and among its related pathways are Glioma and Hyaluronan uptake and degradation. The compounds procollagen and orcein have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and brain, and related mouse phenotypes are mortality/aging and cardiovascular system.

Wikipedia:64 The term fibromatosis refers to a group of benign soft tissue tumors which have certain characteristics... more...

Aliases & Classifications for Fibromatosis

Sources:
43NIH Rare Diseases, 45Novoseek, 61UMLS
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Aliases & Descriptions:

fibromatosis 43 45 61


Related Diseases for Fibromatosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Fibromatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 204)
idRelated DiseaseScoreTop Affiliating Genes
1fibromatosis, gingival31.3SOS1, CD36, MMP2, MMP1, SERPINH1, TGFB1
2desmoid tumor31.1ACTC1, DES, CTNNB1
3gastrointestinal stromal tumor30.5ACTC1, DES, VIM
4spindle cell carcinoma30.3VIM, DES, ACTC1
5infantile myofibromatosis30.3DES
6adenoma30.2CTNNB1, ACTC1
7squamous cell carcinoma30.0VIM, CTNNB1, MMP2, MMP1, ACTC1, SERPINH1
8fibrous histiocytoma29.8ACTC1, DES, VIM
9arthritis29.8MMP2, MMP1, TGFB1
10basal cell carcinoma29.7ACTC1, MMP1, CTNNB1
11juvenile hyaline fibromatosis10.9
12infantile digital fibromatosis10.7
13congenital generalized fibromatosis10.6
14gingival fibromatosis with hypertrichosis10.5
15gingival fibromatosis, 210.4
16gingival fibromatosis, 110.3
17gingival fibromatosis, 310.3
18gingival fibromatosis, 410.3
19plantar fascial fibromatosis10.2
20hyalinosis, inherited systemic10.2
21jones syndrome10.2
22laband syndrome10.2
23amelogenesis imperfecta and gingival fibromatosis syndrome10.2
24aggressive periodontitis10.2
25n syndrome10.2
26ramon syndrome10.2
27gingival fibromatosis with distinctive facies10.2
28mental retardation10.2
29zimmermann-laband syndrome10.2
30ovarian fibroma10.2
31cherubism10.2
32familial adenomatous polyposis10.2
33fibromatosis multiple non ossifying10.2
34gardner syndrome10.2
35gingival fibromatosis - facial dysmorphism10.2
36myofibroma10.1
37mental retardation epilepsy10.1
38phyllode tumor10.1
39breast reconstruction10.0
40amelogenesis imperfecta10.0
41melorheostosis10.0
42hemophilia10.0
43desmoid disease, hereditary10.0
44mass syndrome10.0
45oral squamous cell carcinoma10.0
46familial dupuytren contracture10.0
47choristoma10.0
48gingivitis10.0MMP1
49liver cirrhosis10.0TGFB1
50fasciitis10.0ACTC1

Graphical network of the top 20 diseases related to Fibromatosis:



Diseases related to fibromatosis

Clinical Features for Fibromatosis

Drugs & Therapeutics for Fibromatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Fibromatosis

Drug clinical trials:

Search ClinicalTrials for Fibromatosis

Search NIH Clinical Center for Fibromatosis

Search CenterWatch for Fibromatosis

Genetic Tests for Fibromatosis

Anatomical Context for Fibromatosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Fibromatosis:

33
Bone marrow, Lymph node, Brain, Spinal cord, Small intestine, Colon, Lung, Pancreas, Thyroid, Breast, Skin, Tonsil, T cells, B cells, Tongue, Appendix

Animal Models for Fibromatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fibromatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076810.1SOS1, CTNNB1, DES, ANTXR2, CD36, FGF19
2MP:000538510.0SERPINH1, VIM, SOS1, CTNNB1, IER3, DES
3MP:000536910.0SOS1, IER3, CD36, MMP2, ACTC1, TGFB1

Publications for Fibromatosis

Sources:
51PubMed
See all sources

Articles related to Fibromatosis:

(show top 50)    (show all 692)
idTitleAuthorsYear
1
Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2. (23734713)
2013
2
Intra-abdominal fibromatosis: differentiation from gastrointestinal stromal tumour based on biphasic contrast-enhanced CT findings. (23953007)
2013
3
Paraspinal desmoid-type fibromatosis as a cause of low back pain. (24176807)
2013
4
Results of a phase II pilot study of moderate dose radiotherapy for inoperable desmoid-type fibromatosis--an EORTC STBSG and ROG study (EORTC 62991-22998). (23868907)
2013
5
Periodontal manifestations of von Recklinghausen neuro fibromatosis. (23869137)
2013
6
Endometrial proliferative lesions associated with uterine fibromatosis. (23188434)
2012
7
Immunoreactivity for calretinin and keratins in desmoid fibromatosis and other myofibroblastic tumors: a diagnostic pitfall. (22531174)
2012
8
Fibromatosis of the cecum presenting with acute appendicitis: a case report. (22259254)
2012
9
Deep soft tissue leiomyoma mimicking fibromatosis in a 5-year-old male. (22078158)
2012
10
Gummy smile: could it be genetic? Hereditary gingival fibromatosis. (23346694)
2012
11
Congenital infantile fibromatosis of the cheek: report of a rare case and differential diagnosis. (21658911)
2011
12
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. (21328543)
2011
13
Longitudinal patterns of viremia and oral shedding of rhesus rhadinovirus and retroperitoneal fibromatosis herpesviruses in age-structured captive breeding populations of rhesus Macaques (Macaca mulatta). (21819683)
2011
14
Primary or recurring extra-abdominal desmoid fibromatosis: assessment of treatment by observation only. (21075698)
2010
15
Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex. (20108343)
2010
16
Nipple-sparing skin-sparing mastectomy and vertical latissimus dorsi flap reconstruction for bilateral fibromatosis of the breast. (20133249)
2010
17
Congenital infantile digital fibromatosis: a case report and review of the literature. (21139926)
2009
18
Early onset of hereditary gingival fibromatosis in a 28-month-old. (19722435)
2009
19
Treatment of aggressive fibromatosis: the experience of a single institution. (19875275)
2009
20
Control of aggressive fibromatosis by treatment with imatinib mesylate: a step forward? (18825412)
2009
21
Desmoid-type fibromatosis: a front-line conservative approach to select patients for surgical treatment. (19568815)
2009
22
Aggressive fibromatosis in the maxilla. (18639958)
2009
23
A case report of synchronous osteoblastoma and fibromatosis. (18270286)
2008
24
Review: aggressive fibromatosis and breast implant. (18827792)
2008
25
Infantile digital fibromatosis. (18571599)
2008
26
Resolution of hydronephrosis due to massive mesenteric fibromatosis using cyclo-oxygenase 2 inhibitors. (17905129)
2007
27
Further documentation of spontaneous regression of infantile digital fibromatosis. (17542881)
2007
28
An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients. (17160433)
2007
29
Successful reconstruction of large oropharyngeal defect with pectoralis major myocutaneous flap in a four-year-old boy with recurrent fibromatosis. (17261180)
2007
30
Juvenile hyaline fibromatosis: a case report. (17183860)
2006
31
Fibromatosis of the remnant pancreas after pylorus-preserving pancreaticoduodenectomy. (16773761)
2006
32
Fibromatosis of the breast--a case report. (17183863)
2006
33
Proliferation of fibroblasts cultured from normal gingiva and hereditary gingival fibromatosis is dependent on fatty acid synthase activity. (15974853)
2005
34
Gingival fibromatosis and significant tooth eruption delay in an 11-year-old male: a 30-month follow-up. (16011789)
2005
35
Management of airway obstruction in a severe case of juvenile hyaline fibromatosis. (15725846)
2005
36
Fibromatosis presenting as acute mastoiditis: a case report. (15794545)
2005
37
Mesenteric fibromatosis in a young girl without familial adenomatous polyposis. (15937804)
2005
38
Agressive fibromatosis involving the mandible--case report and review of the literature. (15599346)
2005
39
Juvenile hyaline fibromatosis: a case report and review of the literature. (15533058)
2004
40
Recurrent infantile digital fibromatosis--a rare entity. (11883128)
2001
41
Succinylcholine resistance in a patient with juvenile hyaline fibromatosis. (9366483)
1997
42
Congenital generalized fibromatosis. Extraosseous accumulation of bone seeking radiopharmaceutical. (8732847)
1996
43
Juvenile hyaline fibromatosis in two South African black children. (8891831)
1996
44
Extra-abdominal fibromatosis. An immunohistochemical analysis]. (8113044)
1993
45
Spontaneous isolated intra-abdominal mesenteric fibromatosis. Case report. (1677287)
1991
46
Congenital generalized fibromatosis with predominant osseous involvement in a Chinese newborn. (2915040)
1989
47
Juvenile hyaline fibromatosis. (2437165)
1987
48
Identification of actin microfilaments in the intracytoplasmic inclusions present in recurring infantile digital fibromatosis (Reye tumor). (3029741)
1986
49
Infantile digital fibromatosis. Ultrastructural, histochemical, and tissue culture observations. (6253042)
1980
50
Infantile digital fibromatosis. (4431801)
1974

Genetic Variations for Fibromatosis

Expression for genes affiliated with Fibromatosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fibromatosis

Search GEO for disease gene expression data for Fibromatosis.

Pathways for genes affiliated with Fibromatosis

Sources:
30KEGG, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Fibromatosis

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
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Compounds related to Fibromatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1procollagen4510.9TGFB1
2orcein4510.8VIM, ACTC1, DES
3phxa 854510.8MMP1, MMP2
4s 1004510.8ACTC1, DES, VIM
5reticulin4510.8DES, ACTC1, VIM
6mucicarmine4510.8DES, ACTC1, VIM
7silicone4510.8CD36, MMP2, VIM
8hydroxyproline45 11 2412.8MMP1, TGFB1, MMP2, CD36
9dexamethasone45 50 29 1113.8HAS3, CTNNB1, TGFB1
10hematoxylin4510.8ACTC1, MMP1, DES, VIM
11phalloidin4510.7VIM, DES, CTNNB1
12candesartan45 29 1112.7TGFB1, MMP1, MMP2
13creatinine4510.7TGFB1, MMP1, MMP2, CD36, ACTC1
14formaldehyde45 2411.7VIM, TGFB1, ACTC1, MMP1, DES
15serine4510.7SOS1, DES, MMP2, TGFB1, MMP1
16zoledronic acid4510.7MMP1, CD36, MMP2
17l-ascorbic acid 2-phosphate4510.7CD36, TGFB1
18biotin45 11 2412.7DES, CTNNB1, ACTC1, VIM
19cytochalasin d45 6011.7MMP2, TGFB1, MMP1, CD36, CTNNB1, VIM
20tgf beta14510.7TGFB1, CTNNB1, VIM, MMP2, CD36, MMP1
2112-o-tetradecanoylphorbol 13-acetate4510.7VIM, MMP1, MMP2, TGFB1, DES
22halofuginone4510.7MMP2, CD36
23hydrocortisone45 2 60 1113.7VIM, HAS1, HAS3, MMP1, MMP2, CD36
24adriamycin4510.7CTNNB1, VIM, DES, CD36
25cgs-27023a4510.7MMP1, MMP2
26b 7234510.7DES, VIM, ACTC1
27glycosaminoglycan4510.7CD36, MMP1, ACTC1, TGFB1, HAS3, HAS1
28rosiglitazone45 50 29 11 2414.7MMP2, MMP1, TGFB1, CD36
29sb 20358045 6011.7VIM, TGFB1, MMP1, MMP2, CD36, CTNNB1
30troglitazone45 29 60 1113.7MMP1, CD36, TGFB1, MMP2
31matrigel4510.7TGFB1, ACTC1, MMP1, MMP2, CD36, VIM
32paraffin4510.6CTNNB1, VIM, TGFB1, ACTC1, MMP1, MMP2
33alendronate45 50 1112.6MMP1, CD36, MMP2
34hyaluronic acid45 2411.6HAS3, HAS1, VIM, MMP2, MMP1, TGFB1
35progesterone45 60 29 11 2414.6MMP2, ACTC1, VIM, CTNNB1, DES, MMP1
36vegf4510.6MMP1, CD36, MMP2, VIM, ACTC1, CTNNB1
37alginate4510.6CD36
38h2o24510.6DES, VIM, MMP2, MMP1, CTNNB1, CD36
39retinoic acid45 2411.6TGFB1, HAS3, VIM, CTNNB1, DES, CD36
40bromodeoxyuridine4510.6DES, CTNNB1, VIM, TGFB1
41dihydrotestosterone45 29 11 2413.6VIM, CTNNB1, TGFB1, DES
42testosterone45 60 11 2413.5VIM, CTNNB1, MMP1, MMP2, DES, ACTC1
43herbimycin a45 6011.5MMP1, CTNNB1, CD36, MMP2
44doxorubicin45 50 1112.5TGFB1, MMP1, CTNNB1, DES, VIM
45ns 39845 6011.5MMP2, MMP1, TGFB1
46bafilomycin a145 60 1112.5SERPINH1, MMP2, DES
47thps4510.4MMP2, MMP1
483-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide4510.4MMP2, DES, TGFB1
49benzylamide4510.3TGFB1, CD36
50vgvapg4510.1MMP2, MMP1

GO Terms for genes affiliated with Fibromatosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Fibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fascia adherensGO:00591610.4DES, CTNNB1

Biological processes related to Fibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix assemblyGO:08502910.5TGFB1, HAS3, HAS1
2muscle filament slidingGO:03004910.4ACTC1, DES, VIM
3extracellular polysaccharide biosynthetic processGO:04522610.4HAS3, HAS1
4extracellular matrix organizationGO:03019810.3TGFB1, SERPINH1, MMP1, MMP2
5hyaluronan biosynthetic processGO:03021310.3HAS1, HAS3
6positive regulation of apoptotic processGO:04306510.0TGFB1, IER3, CTNNB1, SOS1

Molecular functions related to Fibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hyaluronan synthase activityGO:05050110.4HAS3, HAS1

Products for genes affiliated with Fibromatosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fibromatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet