MCID: DSM004
MIFTS: 67

Desmoid Tumor malady

Genetic diseases, Rare diseases, Cancer diseases, Muscle diseases categories
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Summaries for Desmoid Tumor

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Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 A desmoid tumor is the abnormal growth of cells in connective tissues, which are tissues that help to maintain the structure of the body and include the tissues covering muscle (fascia), cartilage and fat.  though these tumors have a tendency to invade surrounding tissues and organs (be aggressive), they rarely spread to more distant parts of the body (metastasize).  desmoid tumors occur in 2-5 people per million and are most often found in the muscles of the shoulder or abdominal wall, though they can occur in other parts of the body as well.  the first signs that a desmoid tumor is growing include a growing mass or lump; if the mass presses on other parts of the body, it could cause moderate pain, numbness, tingling, or limit the movement of limbs.  a desmoid tumor is usually diagnosed by magnetic resonance imaging (mri) followed by a biopsy.  treatment consists of surgery to remove as much of the tumor as possible; radiation therapy, chemotherapy, or hormone therapy may also be used to reduce the chance that the tumor might regrow following surgery.  the cause of desmoid tumors is not completely clear;  however, approximately 5% of these tumors are associated with an inherited colon cancer syndrome known as familial adenomatous polyposis (fap). last updated: 10/27/2011

MalaCards: Desmoid Tumor, also known as aggressive fibromatosis, is related to fibromatosis and gardner syndrome, and has symptoms including anomalies of the abdominal wall, soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma and bladder and ureter anomalies. An important gene associated with Desmoid Tumor is APC (adenomatous polyposis coli), and among its related pathways are Canonical Wnt signaling pathway and Angiogenesis. The compounds methylazoxymethanol acetate and 1-hydroxyanthraquinone have been mentioned in the context of this disorder. Affiliated tissues include colon, breast and bone, and related mouse phenotypes are limbs/digits/tail and pigmentation.

Genetics Home Reference:21 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.

Wikipedia:65 Aggressive fibromatosis is a rare condition marked by the presence of desmoid tumors, which are benign,... more...

Description from OMIM:47 135290

Aliases & Classifications for Desmoid Tumor

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47OMIM, 62UMLS, 21Genetics Home Reference, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Muscle diseases
Orphanet: 49 
Rare tumors


Characteristics (Orphanet epidemiological data):

49
desmoid tumor:
Inheritance: Sporadic; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

desmoid tumor 43 21 45 49
aggressive fibromatosis 43 21 49
desmoid disease, hereditary 47 62
familial infiltrative fibromatosis 21
musculoaponeurotic fibromatosis 21
hereditary desmoid disease 21
desmoid type fibromatosis 49
fibromatosis, aggressive 62
desmoid fibromatosis 21
deep fibromatosis 21


External Ids:

OMIM47 135290
ICD10 via Orphanet26 D48.1

Related Diseases for Desmoid Tumor

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

(show top 50)    (show all 144)
idRelated DiseaseScoreTop Affiliating Genes
1fibromatosis31.1APC, DES, ACTC1, CTNNB1, KIT, PDGFRB
2gardner syndrome30.8APC, CTNNB1
3gastrointestinal stromal tumor30.6PDGFRA, KIT
4colon cancer30.4CTNNB1, PDGFRB, APC
5fibrous histiocytoma30.4ACTC1, DES
6fibrosarcoma30.4DES, PDGFRA, PDGFRB, ACTC1
7lung cancer30.4PDGFRA, PDGFRB, PDGFB
8fibroma30.2DES, ACTC1
9wilms tumor30.1DES, CTNNB1, ACTC1
10neurofibromatosis30.1KIT, PDGFRA
11chondrosarcoma30.1PDGFRA, PDGFRB, DES
12astrocytoma30.1PDGFRB, PDGFB, PDGFRA
13prostate cancer30.0CTNNB1, PDGFRB, PDGFRA, APC
14leiomyoma30.0DES, ACTC1, PDGFRA, KIT
15leiomyosarcoma29.9PDGFRA, KIT, PDGFRB, DES, ACTC1
16sarcoma29.8DES, ACTC1, PDGFRA, PDGFRB, PDGFB, KIT
17familial adenomatous polyposis10.8
18desmoid disease, hereditary10.4
19pancreatitis10.4
20mediastinitis10.3
21cholangiocarcinoma10.3
22soft tissue sarcoma10.3
23back pain10.3
24cervicitis10.2
25histiocytoma10.2
26abdominal wall defect10.2
27dermatofibrosarcoma10.1PDGFB
28juvenile polyposis syndrome10.1APC
29fasciitis10.1ACTC1
30chondroma10.1PDGFRA
31systemic mastocytosis10.1PDGFRB
32infantile myofibromatosis10.1DES
33ossifying fibroma10.1
34parametritis10.1
35panhypopituitarism10.1
36diabetes insipidus10.1
37intussusception10.1
38medulloblastoma10.1APC, CTNNB1
39intestinal neoplasm10.1APC, CTNNB1
40hepatocellular adenoma10.1APC, CTNNB1
41turcot syndrome10.1APC, CTNNB1
42colorectal cancer, somatic10.1APC, CTNNB1
43peutz-jeghers syndrome10.1APC, CTNNB1
44tubular adenocarcinoma10.1CTNNB1, ACTC1
45liposarcoma10.1DES
46eosinophilia-myalgia syndrome10.1
47ureteral obstruction10.1
48short bowel syndrome10.1
49melorheostosis10.1
50trichinosis10.1

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



Diseases related to desmoid tumor

Symptoms for Desmoid Tumor

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

135290

Clinical features from OMIM:

135290

Symptoms:

49 (show all 21)
  • anomalies of the abdominal wall
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • bladder and ureter anomalies
  • sepsis severe/septicemia
  • skin tumors/lumps/epidermal cysts
  • muscle anomalies
  • malabsorption/chronic diarrhea/steatorrhea
  • restricted joint mobility/joint stiffness/ankylosis
  • retinitis pigmentosa/retinal pigmentary changes
  • articular/joint pain/arthralgia
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • thoracic/chest pain
  • myalgia/muscular pain
  • acute abdominal pain/colic
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • osteolysis/osteoclasia/bone destruction/erosions
  • intestinal obstruction/ileus
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • polyposis of the bowel/colon/intestine
  • fibromatosis/bone fibroma
  • early death/lethality

Drugs & Therapeutics for Desmoid Tumor

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Desmoid Tumor

Search NIH Clinical Center for Desmoid Tumor

Genetic Tests for Desmoid Tumor

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Anatomical Context for Desmoid Tumor

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33MalaCards
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MalaCards organs/tissues related to Desmoid Tumor:

33
Colon, Breast, Bone, Skin, Pancreas, Lymph node, Liver, Tongue, Testis, Lung, Thyroid, Prostate

Animal Models for Desmoid Tumor or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Desmoid Tumor:

37 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5CTNNB1, KIT, PDGFRA, APC
2MP:00011868.5APC, PDGFRA, PDGFB, KIT, CTNNB1
3MP:00053888.4CTNNB1, KIT, PDGFB, PDGFRA
4MP:00020068.4APC, PDGFRA, KIT, CTNNB1
5MP:00030128.4APC, PDGFRA, PDGFB, KIT, CTNNB1
6MP:00053918.3APC, PDGFRB, PDGFB, KIT, CTNNB1
7MP:00053828.3APC, PDGFRA, PDGFRB, KIT, CTNNB1
8MP:00053708.3APC, PDGFB, KIT, CTNNB1
9MP:00053818.3CTNNB1, KIT, PDGFRB, PDGFRA, APC
10MP:00053798.2APC, PDGFRA, PDGFRB, KIT, CTNNB1
11MP:00053908.1APC, PDGFRA, PDGFRB, KIT, CTNNB1
12MP:00028737.9APC, ACTC1, PDGFRA, PDGFRB, KIT, CTNNB1
13MP:00053677.9APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
14MP:00107717.9APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
15MP:00053807.9APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
16MP:00053897.9APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
17MP:00053977.8APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
18MP:00053847.8APC, ACTC1, PDGFRA, PDGFRB, KIT, CTNNB1
19MP:00053877.8APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
20MP:00036317.7APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
21MP:00053787.5APC, ACTC1, PDGFRA, PDGFRB, PDGFB, KIT
22MP:00053697.0CTNNB1, DES, APC, ACTC1, PDGFRA, PDGFRB
23MP:00053857.0DES, APC, ACTC1, PDGFRA, PDGFRB, PDGFB
24MP:00053767.0DES, APC, ACTC1, PDGFRA, PDGFRB, PDGFB
25MP:00107686.9DES, APC, ACTC1, PDGFRA, PDGFRB, PDGFB

Publications for Desmoid Tumor

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52PubMed
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Articles related to Desmoid Tumor:

(show top 50)    (show all 392)
idTitleAuthorsYear
1
A rare presentation of a large extra-abdominal desmoid tumor of the posterior neck and back. (24035615)
2013
2
Desmoid tumor of posterior cruciate ligament of the knee: a case report. (23432794)
2013
3
Lipomatosis of the sciatic nerve secondary to compression by a desmoid tumor. (23801100)
2013
4
Desmoid Tumor of the Hand: A Case Report. (23657047)
2013
5
The desmoid tumor: still an enigma. (21435664)
2012
6
Intra-thoracic desmoid tumor. (22628932)
2012
7
Desmoid tumor of the buttock in a preadolescent child. (22953269)
2011
8
A massive abdominal wall desmoid tumor occurring in a laparotomy scar: a case report. (21426541)
2011
9
Mifepristone (RU486), a pure antiprogesterone drug, in combination with vinblastine for the treatment of progesterone receptor-positive desmoid tumor. (20585823)
2010
10
Becker nevus with an underlying desmoid tumor: a case report and review including Mayo Clinic's experience. (21173323)
2010
11
Clinical outcomes of systemic therapy for patients with deep fibromatosis (desmoid tumor). (20187095)
2010
12
Evaluation of estrogen receptor alpha, estrogen receptor beta, progesterone receptor, and cKIT expression in desmoids tumors and their role in determining treatment options. (20305341)
2010
13
A rare case of desmoid tumor of thigh. (21966144)
2010
14
Sporadic, nontrauma-related, desmoid tumor of the pancreas: a rare disease-case report and literature review. (20300597)
2010
15
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. (18704758)
2009
16
Chest wall desmoid tumor with life-threatening intrathoracic extension. (19162501)
2009
17
Common peroneal nerve palsy following TNF-based isolated limb perfusion for irresectable extremity desmoid tumor. (19944662)
2009
18
A case of mesenteric desmoid tumor of the jejunum. (19942588)
2009
19
Sporadic desmoid tumor in an Ashkenazi patient homozygous for the APC*I1307K gene mutation. (18770064)
2008
20
Anterior mediastinal desmoid tumor with CT and MR imaging. (17721335)
2007
21
Intra-abdominal desmoid tumor following retroperitoneal lymph node dissection for testicular germ cell tumor. (16448440)
2006
22
Development and rapid growth of a desmoid tumor in the surgical corridor after suboccipital craniotomy for recurrent low-grade astrocytoma. (16645711)
2006
23
Soft-tissue malignant fibrous histiocytoma (high-grade undifferentiated pleomorphic sarcoma) arising in a desmoid tumor in a patient with Milroy's disease. (16437208)
2006
24
Plasminogen activator inhibitor-1 (PAI-1) modifies the formation of aggressive fibromatosis (desmoid tumor). (15674349)
2005
25
Desmoid tumor of the subscapularis presenting as isolated loss of external rotation of the shoulder. A report of two cases. (14711961)
2004
26
Bilateral ureteral compression by multiple abdominal desmoid tumors in Gardner syndrome: case report and literature review. (15533508)
2004
27
Sporadic hereditary pancreatic desmoid tumor: a new entity? (12869894)
2003
28
Quiz case. Extraabdominal desmoid tumor of the upper arm. (14652152)
2003
29
Intrathoracic desmoid tumor mimicking primary lung neoplasm. (11383835)
2001
30
Surgical treatment of a desmoid tumor from the serratus anterior in the subscapular region with use of a scapula-splitting posterior approach. (11307085)
2001
31
Desmoid tumors in three patients]. (11816139)
2001
32
Hypopharyngeal desmoid tumor. (10964306)
2000
33
Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). (10597266)
1999
34
Desmoid tumor of the chest wall following chest surgery: report of a case. (10489143)
1999
35
Recurring desmoid tumor of the foot: a case study. (9167934)
1997
36
Recurring desmoid tumor of the foot: a case study. (8696499)
1996
37
Sequential treatment of recurrent mesenteric desmoid tumor. (8635124)
1996
38
Deletion 5q in desmoid tumor and fluorescence in situ hybridization for chromosome 8 and/or 20 copy number. (8976374)
1996
39
Desmoid tumor of the ulna in a patient with neurofibromatosis. (8583048)
1995
40
Mesenteric desmoid tumor 19 years after radiation therapy for testicular seminoma. (7974887)
1994
41
Case report 771: Melorheostosis in association with desmoid tumor. (8316873)
1993
42
Gardner syndrome and desmoid tumors. (8266758)
1993
43
Paratesticular desmoid tumor. (3576898)
1987
44
Desmoid tumor of the paraspinous muscle involving the chest wall. (3929184)
1985
45
Dystrophic and psammomatous calcifications in a desmoid tumor. A light microscopic and ultrastructural study. (3965088)
1985
46
The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. (7091046)
1982
47
Desmoplastic fibroma vs. desmoid tumor of bone. Two cases illustrating a problem in differential diagnosis and classification. (6025046)
1967
48
Trauma and neoplasm; report of a case of desmoid tumor following simple fracture of the radius and ulna. (13403109)
1957
49
Extensive recurrent desmoid tumor of the abdominal wall: radical excision followed by reconstruction of the abdominal wall with plastic procedure. (13073476)
1953
50
Desmoid tumor. (21019323)
1946

Variations for Desmoid Tumor

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Desmoid Tumor:

1
id Gene Name Type Significance SNP ID Assembly Location
1APCAPC, 2-BP INS, CODON 1924insertionPathogenic/card/desmoid_tumor
2APCAPC, 4-BP DEL, NT5844deletionPathogenic/card/desmoid_tumor
3APCNM_000038.5: c.4575_4576ins337insertionPathogenic/card/desmoid_tumorGRCh38Chr 5, 112840169: 112840170
4APCAPC, 4-BP DEL, 7929TCTAdeletionPathogenic/card/desmoid_tumor

Expression for genes affiliated with Desmoid Tumor

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Desmoid Tumor

Search GEO for disease gene expression data for Desmoid Tumor.

Pathways for genes affiliated with Desmoid Tumor

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Sources:
50PathCards, 38NCBI BioSystems Database, 5Cell Signaling Technology, 60Thomson Reuters, 61Tocris Bioscience, 30KEGG, 55Reactome, 53QIAGEN, 51PharmGKB
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Pathways related to Desmoid Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CTNNB1, APC
2
Show member pathways
Angiogenesis38
9.6PDGFB, PDGFRA
39.6PDGFRB, CTNNB1
49.5PDGFRB, PDGFB
59.4APC, PDGFRA, CTNNB1
6
Show member pathways
9.2PDGFRB, PDGFRA, CTNNB1
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.1ACTC1, CTNNB1, DES
8
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
9.1PDGFRA, PDGFB, PDGFRB
9
Show member pathways
9.1PDGFRA, PDGFB, PDGFRB
10
Show member pathways
PDGF Pathway38
9.1PDGFRA, PDGFRB, PDGFB
11
Show member pathways
MAPK signaling pathway38
9.1PDGFRA, PDGFRB, PDGFB
12
Show member pathways
9.1PDGFB, PDGFRB, PDGFRA
13
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.1PDGFRB, PDGFRA, PDGFB
149.1PDGFRB, PDGFB, PDGFRA
159.1PDGFB, PDGFRA, PDGFRB
16
Show member pathways
9.0CTNNB1, KIT, APC
17
Show member pathways
Signal transduction PTEN pathway60
9.0KIT, CTNNB1, APC
188.8KIT, PDGFRA, ACTC1
19
Show member pathways
8.8PDGFRB, PDGFRA, APC, PDGFB
208.8PDGFRB, PDGFRA, PDGFB, APC
21
Show member pathways
Signaling Pathways in Glioblastoma38
8.7PDGFRA, PDGFB, CTNNB1, PDGFRB
22
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.7PDGFRB, PDGFRA, PDGFB, CTNNB1
23
Show member pathways
8.7CTNNB1, PDGFRB, PDGFRA, PDGFB
24
Show member pathways
8.7PDGFRA, PDGFRB, KIT
25
Show member pathways
8.7PDGFRB, KIT, PDGFRA
26
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.7KIT, PDGFRA, PDGFRB
278.7KIT, PDGFRB, PDGFRA
288.4CTNNB1, PDGFRB, PDGFRA, PDGFB, APC
29
Show member pathways
8.4APC, PDGFRA, PDGFRB, PDGFB, CTNNB1
308.4PDGFRA, APC, PDGFRB, PDGFB, CTNNB1
31
Show member pathways
8.3PDGFRB, PDGFRA, PDGFB, KIT
32
Show member pathways
8.3KIT, PDGFB, PDGFRB, PDGFRA
33
Show member pathways
8.3PDGFRB, KIT, PDGFRA, PDGFB
34
Show member pathways
8.3PDGFRB, PDGFRA, KIT, PDGFB
35
Show member pathways
8.3KIT, PDGFRA, PDGFRB, PDGFB
36
Show member pathways
8.3PDGFRB, PDGFRA, KIT, PDGFB
37
Show member pathways
8.3PDGFB, KIT, PDGFRB, PDGFRA
38
Show member pathways
8.3KIT, PDGFB, PDGFRB, PDGFRA
398.3PDGFB, PDGFRB, PDGFRA, KIT
40
Show member pathways
8.3PDGFRB, PDGFB, PDGFRA, KIT
41
Show member pathways
8.3KIT, PDGFRB, PDGFRA, PDGFB
42
Show member pathways
8.3PDGFRA, KIT, PDGFRB, PDGFB
43
Show member pathways
7.9PDGFRA, PDGFB, PDGFRB, KIT, CTNNB1
44
Show member pathways
7.9PDGFRB, CTNNB1, KIT, PDGFRA, PDGFB
45
Show member pathways
7.9CTNNB1, PDGFRA, KIT, PDGFRB, PDGFB
46
Show member pathways
7.7MCM5, PDGFRA, KIT, PDGFRB, PDGFB
47
Show member pathways
7.6PDGFRB, APC, PDGFB, PDGFRA, KIT, CTNNB1
48
Show member pathways
7.6APC, PDGFRB, CTNNB1, KIT, PDGFRA, PDGFB
497.6APC, KIT, CTNNB1, PDGFRA, PDGFRB, PDGFB
50
Show member pathways
7.0CTNNB1, KIT, DES, APC, PDGFRB, PDGFB

Compounds for genes affiliated with Desmoid Tumor

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Sources:
45Novoseek, 61Tocris Bioscience, 24HMDB, 11DrugBank, 51PharmGKB, 29IUPHAR
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Compounds related to Desmoid Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1methylazoxymethanol acetate4510.2CTNNB1, APC
21-hydroxyanthraquinone4510.2APC, CTNNB1
3samp4510.1CTNNB1, APC
41,2-dimethylhydrazine4510.1CTNNB1, APC
5azoxymethane4510.0APC, CTNNB1
6orcein459.7ACTC1, DES
72-amino-3-methylimidazo(4,5-f)quinoline459.7CTNNB1, APC
8s 100459.5DES, ACTC1
9dmpq dihydrochloride619.5PDGFRA, PDGFRB, PDGFB
10su 6668619.5PDGFRA, PDGFRB, PDGFB
11su 16f619.5PDGFRB, PDGFB, PDGFRA
12sunitinib malate619.5PDGFB, PDGFRB, PDGFRA
13su6668459.4KIT, PDGFRB
14procollagen459.4PDGFB, ACTC1, DES
15biotin45 24 1111.4ACTC1, CTNNB1, DES
16zd6474459.3PDGFRB, KIT
17su5416459.1KIT, PDGFRB
18tgf beta1459.1PDGFRB, PDGFB, CTNNB1, PDGFRA
19pkc 412459.1KIT, PDGFRB, PDGFRA
20ag-1296459.1PDGFRA, PDGFRB, KIT
21gefitinib45 51 1111.1PDGFRB, CTNNB1, KIT
22pazopanib51 1110.1PDGFRB, PDGFRA, KIT
23sunitinib45 51 1111.1PDGFRA, KIT, PDGFRB
24regorafenib51 1110.0PDGFRB, KIT, PDGFRA
25hematoxylin459.0DES, ACTC1, KIT
26bromodeoxyuridine459.0PDGFB, PDGFRB, CTNNB1, DES
27p002458.8CTNNB1, DES, KIT
28phosphoinositide458.7APC, KIT, PDGFRB, CTNNB1
29ribonucleic acid458.7KIT, PDGFB, PDGFRB, ACTC1
30cycloheximide458.6CTNNB1, PDGFB, KIT, APC
31methionine458.5KIT, APC, DES, PDGFRB
32rapamycin458.4PDGFRA, APC, PDGFRB, KIT, CTNNB1
33glycogen45 249.4DES, APC, CTNNB1, KIT, ACTC1
34phosphatidylinositol458.4PDGFRB, KIT, CTNNB1, PDGFRA, APC
35formaldehyde45 249.4ACTC1, DES, KIT
36phosphotyrosine458.3KIT, PDGFB, CTNNB1, PDGFRB, PDGFRA
37thymidine45 249.2DES, PDGFRA, PDGFB, KIT, CTNNB1
38threonine458.2APC, DES, KIT, PDGFRB, CTNNB1
39oligonucleotide458.0PDGFRB, PDGFRA, APC, KIT, CTNNB1, PDGFB
40testosterone45 61 24 1110.9DES, APC, ACTC1, CTNNB1, KIT, PDGFRB
41glucose457.8DES, APC, ACTC1, PDGFRB, PDGFB, KIT
42serine457.8CTNNB1, KIT, PDGFB, APC, DES, PDGFRB
43progesterone45 29 61 24 1111.5KIT, DES, APC, ACTC1, PDGFRB, PDGFB
44calcium45 51 24 1110.5APC, ACTC1, DES, PDGFRA, PDGFRB, KIT
45retinoic acid45 248.5PDGFRA, KIT, DES, APC, ACTC1, PDGFRB
46imatinib45 51 119.4PDGFB, CTNNB1, ACTC1, KIT, PDGFRB, PDGFRA
47vegf457.4CTNNB1, DES, ACTC1, PDGFRA, PDGFRB, KIT
48paraffin457.1ACTC1, PDGFRA, PDGFRB, PDGFB, DES, APC
49estrogen457.1APC, PDGFRA, PDGFRB, PDGFB, CTNNB1, DES
50tyrosine457.0CTNNB1, KIT, PDGFB, PDGFRB, PDGFRA, ACTC1

GO Terms for genes affiliated with Desmoid Tumor

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Sources:
16Gene Ontology
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Cellular components related to Desmoid Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1beta-catenin destruction complexGO:03087710.0APC, CTNNB1
2cell-cell adherens junctionGO:0059139.8CTNNB1, APC
3intrinsic component of plasma membraneGO:0312269.6PDGFRA, PDGFRB
4fascia adherensGO:0059169.6DES, CTNNB1
5lateral plasma membraneGO:0163289.5APC, CTNNB1
6cytoplasmic side of plasma membraneGO:0098989.2CTNNB1, KIT
7cytoplasmGO:0057378.0ACTC1, APC, PDGFRA, PDGFRB, PDGFB, CTNNB1

Biological processes related to Desmoid Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:04433610.2CTNNB1, APC
2proximal/distal pattern formationGO:00995410.1CTNNB1, APC
3positive regulation of fibroblast growth factor receptor signaling pathwayGO:04574310.1CTNNB1, PDGFB
4T cell differentiation in thymusGO:03307710.1CTNNB1, APC
5male genitalia developmentGO:03053910.0CTNNB1, PDGFRA
6negative regulation of platelet activationGO:01054410.0PDGFRA, PDGFB
7metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:07226210.0PDGFB, PDGFRB
8thymus developmentGO:04853810.0CTNNB1, APC
9positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:03579310.0PDGFRB, PDGFB
10metanephric glomerular capillary formationGO:0722779.9PDGFRA, PDGFRB
11positive regulation of DNA biosynthetic processGO:20005739.9PDGFB, PDGFRB
12positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathwayGO:0380919.9PDGFRA, PDGFRB
13positive regulation of chemotaxisGO:0509219.9PDGFB, PDGFRB
14positive regulation of calcium ion importGO:0902809.9PDGFB, PDGFRB
15positive regulation of smooth muscle cell migrationGO:0149119.9PDGFRB, PDGFB
16retina vasculature development in camera-type eyeGO:0612989.9PDGFRB, PDGFRA
17cellular response to growth factor stimulusGO:0713639.8CTNNB1, PDGFB
18positive regulation of reactive oxygen species metabolic processGO:20003799.8PDGFB, PDGFRB
19positive regulation of mitosisGO:0458409.8PDGFRB, PDGFB
20adrenal gland developmentGO:0303259.8PDGFRB, PDGFRA
21positive regulation of DNA replicationGO:0457409.8PDGFB, PDGFRA
22positive regulation of cell divisionGO:0517819.7PDGFB, APC
23positive regulation of pseudopodium assemblyGO:0312749.7APC, KIT
24muscle filament slidingGO:0300499.7DES, ACTC1
25positive regulation of fibroblast proliferationGO:0481469.6PDGFB, PDGFRA
26positive regulation of smooth muscle cell proliferationGO:0486619.6PDGFRB, PDGFB
27response to estradiolGO:0323559.6PDGFRB, PDGFB, CTNNB1
28response to drugGO:0424939.6CTNNB1, PDGFB, ACTC1
29cardiac myofibril assemblyGO:0550039.6ACTC1, PDGFRA, PDGFRB
30somatic stem cell maintenanceGO:0350199.6KIT, APC
31platelet-derived growth factor receptor signaling pathwayGO:0480089.5PDGFRA, PDGFRB, PDGFB
32cellular component disassembly involved in execution phase of apoptosisGO:0069219.5CTNNB1, APC
33positive regulation of ERK1 and ERK2 cascadeGO:0703749.5PDGFRA, PDGFRB, PDGFB
34in utero embryonic developmentGO:0017019.5PDGFRA, PDGFRB, CTNNB1
35positive regulation of MAP kinase activityGO:0434069.4PDGFB, PDGFRB
36positive regulation of MAPK cascadeGO:0434109.3CTNNB1, KIT, PDGFB
37positive regulation of phospholipase C activityGO:0108639.1KIT, PDGFRB, PDGFRA
38protein autophosphorylationGO:0467779.0KIT, PDGFRB, PDGFRA
39positive regulation of phosphatidylinositol 3-kinase activityGO:0435528.7KIT, PDGFB, PDGFRB, PDGFRA
40cell chemotaxisGO:0603268.7KIT, PDGFB, PDGFRB, PDGFRA
41positive regulation of phosphatidylinositol 3-kinase signalingGO:0140688.7PDGFRA, PDGFRB, PDGFB, KIT
42peptidyl-tyrosine phosphorylationGO:0181088.7PDGFRA, PDGFRB, PDGFB, KIT
43phosphatidylinositol-mediated signalingGO:0480158.7KIT, PDGFB, PDGFRB, PDGFRA
44fibroblast growth factor receptor signaling pathwayGO:0085438.7KIT, PDGFB, PDGFRB, PDGFRA
45Fc-epsilon receptor signaling pathwayGO:0380958.7PDGFRA, PDGFRB, PDGFB, KIT
46epidermal growth factor receptor signaling pathwayGO:0071738.7PDGFRA, PDGFRB, PDGFB, KIT
47neurotrophin TRK receptor signaling pathwayGO:0480118.7PDGFRA, PDGFRB, PDGFB, KIT
48positive regulation of cell proliferationGO:0082848.6KIT, PDGFB, PDGFRB, PDGFRA
49positive regulation of cell migrationGO:0303358.4APC, PDGFRA, PDGFRB, PDGFB, KIT
50innate immune responseGO:0450878.3PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1

Molecular functions related to Desmoid Tumor according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cadherin bindingGO:0452969.7CTNNB1, APC
2vascular endothelial growth factor bindingGO:0380859.6PDGFRA, PDGFRB
3protein kinase bindingGO:0199019.3APC, PDGFRB, CTNNB1
4platelet-derived growth factor bindingGO:0484079.3PDGFRA, PDGFRB, PDGFB
5platelet-derived growth factor receptor bindingGO:0051619.2PDGFB, PDGFRB, PDGFRA
6transmembrane receptor protein tyrosine kinase activityGO:0047148.9PDGFRA, KIT
7ATP bindingGO:0055247.8MCM5, ACTC1, KIT, PDGFRB, PDGFRA
8protein bindingGO:0055156.5DES, APC, MCM5, PDGFRA, PDGFRB, PDGFB

Products for genes affiliated with Desmoid Tumor

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Sources for Desmoid Tumor

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet