MCID: DSM004
MIFTS: 69

Desmoid Tumor malady

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

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NIH Rare Diseases:42 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 based summary: Desmoid Tumor, also known as aggressive fibromatosis, is related to gardner syndrome and gastrointestinal stromal tumor, and has symptoms including anomalies of the abdominal wall, subcutaneous nodules/lipomas/tumefaction/swelling and muscle 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 bone, colon and breast, 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:46 135290

Aliases & Classifications for Desmoid Tumor

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Desmoid Tumor, Aliases & Descriptions:

Name: Desmoid Tumor 42 21 44 48
Aggressive Fibromatosis 42 21 48
Musculoaponeurotic Fibromatosis 21 62
Desmoid Disease, Hereditary 46 62
Fibromatosis, Familial Infiltrative 62
Familial Infiltrative Fibromatosis 21
 
Hereditary Desmoid Disease 21
Desmoid-Type Fibromatosis 62
Desmoid Type Fibromatosis 48
Fibromatosis, Aggressive 62
Desmoid Fibromatosis 21
Deep Fibromatosis 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Muscle diseases
Orphanet: 48 
Rare tumors


Characteristics (Orphanet epidemiological data):

48
desmoid tumor:
Inheritance: Sporadic; Age of onset: Adolescence / Young adulthood; Age of death: Normal


External Ids:

OMIM46 135290
ICD10 via Orphanet26 D48.1

Related Diseases for Desmoid Tumor

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

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1gardner syndrome31.3APC, CTNNB1
2gastrointestinal stromal tumor30.8PDGFRA, KIT
3fibrous histiocytoma30.7DES, ACTC1
4fibromatosis30.4DES, APC, ACTC1, PDGFRB, KIT, CTNNB1
5fibroma30.4ACTC1, DES
6paraganglioma30.4ACTC1, DES
7wilms tumor30.2DES, ACTC1, CTNNB1
8fibrosarcoma30.2PDGFRB, PDGFRA, ACTC1, DES
9neurofibromatosis30.2KIT, PDGFRA
10lung cancer30.1PDGFRA, PDGFRB, PDGFB
11chondrosarcoma30.1PDGFRB, PDGFRA, DES
12astrocytoma30.1PDGFB, PDGFRB, PDGFRA
13prostate cancer29.9APC, PDGFRA, PDGFRB, CTNNB1
14leiomyoma29.7KIT, PDGFRA, ACTC1, DES
15leiomyosarcoma29.3KIT, PDGFRB, PDGFRA, ACTC1, DES
16sarcoma29.3DES, ACTC1, PDGFRA, PDGFRB, PDGFB, KIT
17familial adenomatous polyposis10.8
18dermatofibrosarcoma protuberans10.5PDGFB
19juvenile polyposis syndrome10.5APC
20fasciitis10.5ACTC1
21pancreatitis10.5
22chondroma10.4PDGFRA
23systemic mastocytosis10.4PDGFRB
24infantile myofibromatosis10.4DES
25medulloblastoma10.4APC, CTNNB1
26intestinal neoplasm10.4APC, CTNNB1
27hepatocellular adenoma10.4APC, CTNNB1
28turcot syndrome10.4CTNNB1, APC
29colorectal cancer, somatic10.4APC, CTNNB1
30peutz-jeghers syndrome10.3APC, CTNNB1
31tubular adenocarcinoma10.3CTNNB1, ACTC1
32colon cancer10.3
33mediastinitis10.3
34liposarcoma10.3DES
35cholangiocarcinoma10.3
36hypertension10.3
37soft tissue sarcoma10.3
38back pain10.3
39angiosarcoma10.3PDGFRA, ACTC1
40myelofibrosis10.3PDGFRA, PDGFRB
41adenosarcoma10.3DES, ACTC1
42bone marrow cancer10.2PDGFRA, PDGFRB
43epithelioid leiomyosarcoma10.2ACTC1, DES
44adrenal cortical adenoma10.2CTNNB1, APC
45spindle cell carcinoma10.2DES, ACTC1
46spindle cell sarcoma10.2DES, ACTC1
47gastric cancer10.2
48ureteral obstruction10.2
49cervicitis10.2
50histiocytoma10.2

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



Diseases related to desmoid tumor

Symptoms for Desmoid Tumor

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Symptoms by clinical synopsis from OMIM:

135290

Clinical features from OMIM:

135290

Symptoms:

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

HPO human phenotypes related to Desmoid Tumor:

(show all 20)
id Description Frequency HPO Source Accession
1 desmoid tumors hallmark (90%) HP:0100245
2 abnormality of the abdominal wall hallmark (90%) HP:0004298
3 sarcoma hallmark (90%) HP:0100242
4 abdominal pain typical (50%) HP:0002027
5 myalgia typical (50%) HP:0003326
6 intestinal polyposis typical (50%) HP:0200008
7 epidermoid cyst frequent (33%) HP:0200040
8 limitation of joint mobility occasional (7.5%) HP:0001376
9 malabsorption occasional (7.5%) HP:0002024
10 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
11 osteolysis occasional (7.5%) HP:0002797
12 arthralgia occasional (7.5%) HP:0002829
13 intestinal obstruction occasional (7.5%) HP:0005214
14 abnormal retinal pigmentation occasional (7.5%) HP:0007703
15 neoplasm of the skin occasional (7.5%) HP:0008069
16 abnormality of the upper urinary tract occasional (7.5%) HP:0010935
17 chest pain occasional (7.5%) HP:0100749
18 sepsis occasional (7.5%) HP:0100806
19 colon cancer rare (5%) HP:0003003
20 autosomal dominant inheritance HP:0000006

Drugs & Therapeutics for Desmoid Tumor

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Drug clinical trials:

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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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MalaCards organs/tissues related to Desmoid Tumor:

32
Bone, Colon, Breast, Skin, Lymph node, Liver, Lung, Pancreas, Thyroid, Prostate, Testis, Testes, Tongue, Small intestine

Animal Models for Desmoid Tumor or affiliated genes

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MGI Mouse Phenotypes related to Desmoid Tumor:

36 (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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Articles related to Desmoid Tumor:

(show top 50)    (show all 413)
idTitleAuthorsYear
1
Prognostic factors for desmoid tumor: a surgical series of 233 patients at a single institution. (24789435)
2014
2
A rare presentation of a large extra-abdominal desmoid tumor of the posterior neck and back. (24035615)
2013
3
Desmoid tumor of the facet joint: a case report. (24757464)
2013
4
Desmoid tumor of posterior cruciate ligament of the knee: a case report. (23432794)
2013
5
Lipomatosis of the sciatic nerve secondary to compression by a desmoid tumor. (23801100)
2013
6
Desmoid Tumor of the Hand: A Case Report. (23657047)
2013
7
The desmoid tumor: still an enigma. (21435664)
2012
8
Intra-thoracic desmoid tumor. (22628932)
2012
9
Desmoid tumor of the buttock in a preadolescent child. (22953269)
2011
10
A massive abdominal wall desmoid tumor occurring in a laparotomy scar: a case report. (21426541)
2011
11
Mifepristone (RU486), a pure antiprogesterone drug, in combination with vinblastine for the treatment of progesterone receptor-positive desmoid tumor. (20585823)
2010
12
Becker nevus with an underlying desmoid tumor: a case report and review including Mayo Clinic's experience. (21173323)
2010
13
Clinical outcomes of systemic therapy for patients with deep fibromatosis (desmoid tumor). (20187095)
2010
14
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
15
A rare case of desmoid tumor of thigh. (21966144)
2010
16
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
17
Chest wall desmoid tumor with life-threatening intrathoracic extension. (19162501)
2009
18
Common peroneal nerve palsy following TNF-based isolated limb perfusion for irresectable extremity desmoid tumor. (19944662)
2009
19
A case of mesenteric desmoid tumor of the jejunum. (19942588)
2009
20
Sporadic desmoid tumor in an Ashkenazi patient homozygous for the APC*I1307K gene mutation. (18770064)
2008
21
Anterior mediastinal desmoid tumor with CT and MR imaging. (17721335)
2007
22
Intra-abdominal desmoid tumor following retroperitoneal lymph node dissection for testicular germ cell tumor. (16448440)
2006
23
Development and rapid growth of a desmoid tumor in the surgical corridor after suboccipital craniotomy for recurrent low-grade astrocytoma. (16645711)
2006
24
Plasminogen activator inhibitor-1 (PAI-1) modifies the formation of aggressive fibromatosis (desmoid tumor). (15674349)
2005
25
Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma. (15793634)
2005
26
Desmoid tumor of the subscapularis presenting as isolated loss of external rotation of the shoulder. A report of two cases. (14711961)
2004
27
Bilateral ureteral compression by multiple abdominal desmoid tumors in Gardner syndrome: case report and literature review. (15533508)
2004
28
Genetic deletion of receptor for hyaluronan-mediated motility (Rhamm) attenuates the formation of aggressive fibromatosis (desmoid tumor). (14534534)
2003
29
Sporadic hereditary pancreatic desmoid tumor: a new entity? (12869894)
2003
30
Quiz case. Extraabdominal desmoid tumor of the upper arm. (14652152)
2003
31
Intrathoracic desmoid tumor mimicking primary lung neoplasm. (11383835)
2001
32
Surgical treatment of a desmoid tumor from the serratus anterior in the subscapular region with use of a scapula-splitting posterior approach. (11307085)
2001
33
Hypopharyngeal desmoid tumor. (10964306)
2000
34
Predominance of beta-catenin mutations and beta-catenin dysregulation in sporadic aggressive fibromatosis (desmoid tumor). (10597266)
1999
35
Desmoid tumor of the chest wall following chest surgery: report of a case. (10489143)
1999
36
Recurring desmoid tumor of the foot: a case study. (9167934)
1997
37
Recurring desmoid tumor of the foot: a case study. (8696499)
1996
38
Sequential treatment of recurrent mesenteric desmoid tumor. (8635124)
1996
39
Deletion 5q in desmoid tumor and fluorescence in situ hybridization for chromosome 8 and/or 20 copy number. (8976374)
1996
40
Desmoid tumor of the ulna in a patient with neurofibromatosis. (8583048)
1995
41
Mesenteric desmoid tumor 19 years after radiation therapy for testicular seminoma. (7974887)
1994
42
Case report 771: Melorheostosis in association with desmoid tumor. (8316873)
1993
43
Gardner syndrome and desmoid tumors. (8266758)
1993
44
Paratesticular desmoid tumor. (3576898)
1987
45
Desmoid tumor of the paraspinous muscle involving the chest wall. (3929184)
1985
46
Dystrophic and psammomatous calcifications in a desmoid tumor. A light microscopic and ultrastructural study. (3965088)
1985
47
The desmoid tumor. I. Incidence, sex-, age- and anatomical distribution in the Finnish population. (7091046)
1982
48
Desmoplastic fibroma vs. desmoid tumor of bone. Two cases illustrating a problem in differential diagnosis and classification. (6025046)
1967
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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Clinvar genetic disease variations for Desmoid Tumor:

6
id Gene Name Type Significance SNP ID Assembly Location
1APCAPC, 2-BP INS, CODON 1924insertionPathogenic
2APCAPC, 4-BP DEL, NT5844deletionPathogenic
3APCNM_000038.5: c.4575_4576ins337insertionPathogenicGRCh38Chr 5, 112840169: 112840170
4APCAPC, 4-BP DEL, 7929TCTAdeletionPathogenic

Expression for genes affiliated with Desmoid Tumor

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Expression patterns in normal tissues for genes affiliated with Desmoid Tumor

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Pathways for genes affiliated with Desmoid Tumor

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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
Angiogenesis37
9.6PDGFRA, PDGFB
39.6CTNNB1, PDGFRB
49.5PDGFB, PDGFRB
59.4CTNNB1, PDGFRA, APC
6
Show member pathways
9.2PDGFRA, PDGFRB, CTNNB1
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.1DES, ACTC1, CTNNB1
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 Receptor37
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
9.1PDGFB, PDGFRB, PDGFRA
9
Show member pathways
9.1PDGFRA, PDGFRB, PDGFB
10
Show member pathways
PDGF Pathway37
9.1PDGFB, PDGFRB, PDGFRA
11
Show member pathways
MAPK signaling pathway37
9.1PDGFRA, PDGFRB, PDGFB
12
Show member pathways
9.1PDGFRA, PDGFRB, PDGFB
13
Show member pathways
IL23-mediated signaling events37
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling37
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.1PDGFRA, PDGFRB, PDGFB
149.1PDGFRA, PDGFRB, PDGFB
159.1PDGFB, PDGFRB, PDGFRA
16
Show member pathways
9.0CTNNB1, KIT, APC
17
Show member pathways
Signal transduction PTEN pathway60
9.0CTNNB1, KIT, APC
188.8KIT, PDGFRA, ACTC1
198.8PDGFB, PDGFRB, PDGFRA, APC
20
Show member pathways
8.8APC, PDGFRA, PDGFRB, PDGFB
21
Show member pathways
8.7PDGFRA, PDGFRB, PDGFB, CTNNB1
22
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
8.7PDGFRA, PDGFRB, PDGFB, CTNNB1
23
Show member pathways
Signaling Pathways in Glioblastoma37
8.7CTNNB1, PDGFB, PDGFRB, PDGFRA
24
Show member pathways
8.7KIT, PDGFRB, PDGFRA
25
Show member pathways
8.7PDGFRA, PDGFRB, KIT
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, PDGFRB, PDGFRA
278.7PDGFRA, PDGFRB, KIT
288.4CTNNB1, PDGFB, PDGFRB, PDGFRA, APC
298.4CTNNB1, PDGFB, PDGFRB, PDGFRA, APC
30
Show member pathways
8.4APC, PDGFRA, PDGFRB, PDGFB, CTNNB1
31
Show member pathways
8.3PDGFRA, PDGFRB, PDGFB, KIT
32
Show member pathways
8.3PDGFRA, PDGFRB, PDGFB, KIT
33
Show member pathways
8.3PDGFRA, PDGFRB, PDGFB, KIT
34
Show member pathways
8.3PDGFRA, PDGFRB, PDGFB, KIT
35
Show member pathways
8.3KIT, PDGFB, PDGFRB, PDGFRA
36
Show member pathways
8.3PDGFRA, PDGFRB, PDGFB, KIT
37
Show member pathways
8.3PDGFRA, PDGFRB, PDGFB, KIT
38
Show member pathways
8.3KIT, PDGFB, PDGFRB, PDGFRA
398.3PDGFRA, PDGFRB, PDGFB, KIT
40
Show member pathways
8.3KIT, PDGFB, PDGFRB, PDGFRA
41
Show member pathways
8.3PDGFRA, PDGFRB, PDGFB, KIT
42
Show member pathways
8.3KIT, PDGFB, PDGFRB, PDGFRA
43
Show member pathways
7.9PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
44
Show member pathways
7.9PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
45
Show member pathways
7.9PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
46
Show member pathways
7.7MCM5, PDGFRA, PDGFRB, PDGFB, KIT
47
Show member pathways
7.6APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
48
Show member pathways
7.6APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
497.6APC, PDGFRA, PDGFRB, PDGFB, KIT, CTNNB1
50
Show member pathways
7.0DES, APC, PDGFRA, PDGFRB, PDGFB, KIT

Compounds for genes affiliated with Desmoid Tumor

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Compounds related to Desmoid Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1methylazoxymethanol acetate4410.2APC, CTNNB1
21-hydroxyanthraquinone4410.2APC, CTNNB1
3samp4410.1CTNNB1, APC
41,2-dimethylhydrazine4410.1CTNNB1, APC
5azoxymethane4410.0APC, CTNNB1
6exisulind449.8APC, CTNNB1
7orcein449.7ACTC1, DES
82-amino-3-methylimidazo(4,5-f)quinoline449.7CTNNB1, APC
9s 100449.5DES, ACTC1
10dmpq dihydrochloride619.5PDGFRA, PDGFRB, PDGFB
11su 6668619.5PDGFRA, PDGFRB, PDGFB
12su 16f619.5PDGFRB, PDGFB, PDGFRA
13sunitinib malate619.5PDGFB, PDGFRB, PDGFRA
14su6668449.4KIT, PDGFRB
15procollagen449.4PDGFB, ACTC1, DES
16biotin44 24 1111.4CTNNB1, DES, ACTC1
17zd6474449.3PDGFRB, KIT
18tgf beta1449.1PDGFRA, PDGFRB, CTNNB1, PDGFB
19pkc 412449.1KIT, PDGFRB, PDGFRA
20ag-1296449.1PDGFRA, PDGFRB, KIT
21gefitinib44 50 1111.1KIT, PDGFRB, CTNNB1
22pazopanib50 1110.1PDGFRB, PDGFRA, KIT
23sunitinib44 50 1111.1KIT, PDGFRB, PDGFRA
24regorafenib50 1110.0KIT, PDGFRA, PDGFRB
25hematoxylin449.0DES, KIT, ACTC1
26bromodeoxyuridine449.0PDGFRB, PDGFB, DES, CTNNB1
27p002448.8DES, CTNNB1, KIT
28phosphoinositide448.7KIT, APC, CTNNB1, PDGFRB
29ribonucleic acid448.7KIT, ACTC1, PDGFRB, PDGFB
30cycloheximide448.6CTNNB1, KIT, PDGFB, APC
31methionine448.5KIT, PDGFRB, APC, DES
32rapamycin448.4PDGFRA, APC, PDGFRB, KIT, CTNNB1
33glycogen44 249.4DES, APC, CTNNB1, KIT, ACTC1
34formaldehyde44 249.4ACTC1, KIT, DES
35phosphatidylinositol448.4APC, PDGFRA, PDGFRB, KIT, CTNNB1
36phosphotyrosine448.3KIT, PDGFB, CTNNB1, PDGFRB, PDGFRA
37thymidine44 249.2KIT, DES, PDGFRA, PDGFB, CTNNB1
38threonine448.2PDGFRB, KIT, APC, DES, CTNNB1
39oligonucleotide448.0PDGFRB, PDGFRA, APC, KIT, CTNNB1, PDGFB
40testosterone44 61 24 1110.9DES, APC, ACTC1, CTNNB1, KIT, PDGFRB
41glucose447.8DES, APC, ACTC1, PDGFRB, PDGFB, KIT
42serine447.8APC, CTNNB1, KIT, PDGFB, PDGFRB, DES
43progesterone44 28 61 24 1111.5KIT, DES, APC, ACTC1, PDGFRB, PDGFB
44calcium44 50 24 1110.5KIT, PDGFRB, PDGFRA, DES, APC, ACTC1
45retinoic acid44 248.5PDGFRA, KIT, DES, APC, ACTC1, PDGFRB
46imatinib44 50 119.4PDGFB, CTNNB1, ACTC1, KIT, PDGFRB, PDGFRA
47vegf447.4CTNNB1, DES, ACTC1, PDGFRA, PDGFRB, KIT
48paraffin447.1ACTC1, PDGFRA, PDGFRB, PDGFB, DES, APC
49estrogen447.1APC, PDGFRA, PDGFRB, PDGFB, CTNNB1, DES
50tyrosine447.0CTNNB1, KIT, PDGFB, PDGFRB, PDGFRA, ACTC1

GO Terms for genes affiliated with Desmoid Tumor

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Cellular components related to Desmoid Tumor according to GeneCards/GeneDecks:

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

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:0199019.3CTNNB1, PDGFRB, APC
4platelet-derived growth factor bindingGO:0484079.3PDGFB, PDGFRB, PDGFRA
5platelet-derived growth factor receptor bindingGO:0051619.2PDGFB, PDGFRB, PDGFRA
6transmembrane receptor protein tyrosine kinase activityGO:0047148.9KIT, PDGFRA
7ATP bindingGO:0055247.8MCM5, ACTC1, PDGFRA, PDGFRB, KIT
8protein bindingGO:0055156.5DES, APC, MCM5, PDGFRA, PDGFRB, PDGFB

Products for genes affiliated with Desmoid Tumor

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  • Antibodies
  • Proteins
  • Lysates

Sources for Desmoid Tumor

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet