DSRCT
MCID: DSM007
MIFTS: 48

Desmoplastic Small Round Cell Tumor (DSRCT) malady

Cancer diseases category

Summaries for Desmoplastic Small Round Cell Tumor

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Desmoplastic small round cell tumors (dsrct), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. the most common symptoms include abdominal pain, abdominal mass and symptoms of gastrointestinal obstruction. dsrcts are treated first with chemotherapy, then with surgery to remove the tumor, if possible. radiation therapy is sometimes given, depending on the tumor. in addition, some people with dsrct are candidates for a bone marrow transplant. last updated: 6/19/2009

MalaCards: Desmoplastic Small Round Cell Tumor, also known as desmoplastic small round-cell tumor, is related to sarcoma and synovial sarcoma, and has symptoms including wasted (excluding lipodystrophy)/poorly muscled build/cachexy, central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer and ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma). An important gene associated with Desmoplastic Small Round Cell Tumor is EWSR1 (EWS RNA-binding protein 1), and among its related pathways are CDO in myogenesis and Id Signaling Pathway. The compounds procollagen and askin have been mentioned in the context of this disorder. Affiliated tissues include bone, ovary and lung, and related mouse phenotypes are respiratory system and muscle.

Wikipedia:63 Desmoplastic small-round-cell tumor is classified as a soft tissue sarcoma. It is an aggressive and rare... more...

Aliases & Classifications for Desmoplastic Small Round Cell Tumor

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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Characteristics (Orphanet epidemiological data):

48
desmoplastic small round cell tumor:
Inheritance: Sporadic; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

desmoplastic small round cell tumor 42 48 60
desmoplastic small round-cell tumor 42 44
dsrct 42 48


External Ids:

MESH via Orphanet35 D058405
ICD10 via Orphanet26 C48.2
SNOMED-CT via Orphanet57 128735004
UMLS via Orphanet61 C0281508

Related Diseases for Desmoplastic Small Round Cell Tumor

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17GeneCards, 18GeneDecks
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Diseases related to Desmoplastic Small Round Cell Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 135)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma31.3CALB2, PDGFA, EWSR1, WT1, DES, MYOD1
2synovial sarcoma30.9MUC1, DES, CALB2
3rhabdomyosarcoma30.8DES, WT1, EWSR1, CALB2, MYF5, MYOD1
4alveolar rhabdomyosarcoma30.7WT1, DES, MYOD1, MYOG, ENO2
5leydig cell tumor30.5CALB2
6sertoli-leydig cell tumor30.5MUC1, WT1, CALB2
7gastrointestinal stromal tumor30.5ENO2, ACTC1, DES
8leukemia30.5EWSR1, WT1, CD99, ALPP
9ovarian cancer30.5CALB2, WT1, MUC1, ALPP, TGFB3
10sertoli cell tumor30.5ALPP, ENO2, MUC1, SYP, DES, CALB2
11melanoma30.5CALB2, PDGFA, EWSR1, DES, MYOD1, ACTC1
12small cell sarcoma10.9
13peritonitis10.6
14hepatitis10.6
15primitive neuroectodermal tumor10.5
16acute t cell leukemia10.3
17familial melanoma10.3
18hypoglycemia10.3
19fibrous synovial sarcoma10.3
20acute leukemia10.3
21hepatitis a10.3
22lymphoblastic leukemia10.3
23malignant peripheral nerve sheath tumor10.3
24stomach cancer10.3
25t-cell leukemia10.3
26thymoma10.0CALB2
27metanephric adenoma10.0WT1
28alveolar soft part sarcoma10.0MYOD1
29infantile myofibromatosis10.0DES
30melanotic neuroectodermal tumor10.0SYP
31hemangioma10.0ACTC1
32central nervous system cancer10.0ENO2
33ovarian small cell carcinoma10.0TTF1
34nephroblastoma10.0WT1, EWSR1
35pancreatitis10.0ALPP
36adenomatoid tumor10.0CALB2, WT1
37fibrous meningioma10.0MUC1
38malignant mesenchymoma10.0MYOD1, MYOG
39angiomyolipoma10.0ACTC1, DES
40adenosarcoma10.0DES, ACTC1
41cystadenocarcinoma10.0MUC1
42testicular cancer10.0ALPP
43sex cord-gonadal stromal tumor10.0CALB2
44fasciitis10.0ACTC1
45lipoma10.0DES
46benign mesothelioma10.0WT1, CALB2
47myoepithelioma10.0EWSR1, ACTC1
48endometriosis10.0ACTC1, CALB2
49mesenchymal chondrosarcoma10.0DES, MUC1
50desmoid tumor10.0DES, ACTC1

Graphical network of the top 20 diseases related to Desmoplastic Small Round Cell Tumor:



Diseases related to desmoplastic small round cell tumor

Clinical Features for Desmoplastic Small Round Cell Tumor

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Sources:
48Orphanet
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Symptoms:

48 (show all 19)
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • peritoneal diseases
  • lymphadenopathy/polyadenopathies
  • digestive neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • intestinal obstruction/ileus
  • hepatomegaly/liver enlargement (excluding storage disease)
  • mediastinal/hilar adenopathies
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • ascitis
  • testis anomalies
  • anaemia
  • nose/nasal sinus neoplasm/tumor/carcinoma/cancer
  • acute abdominal pain/colic

Drugs & Therapeutics for Desmoplastic Small Round Cell Tumor

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Desmoplastic Small Round Cell Tumor

Drug clinical trials:

Search ClinicalTrials for Desmoplastic Small Round Cell Tumor

Search NIH Clinical Center for Desmoplastic Small Round Cell Tumor

Search CenterWatch for Desmoplastic Small Round Cell Tumor

Genetic Tests for Desmoplastic Small Round Cell Tumor

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Anatomical Context for Desmoplastic Small Round Cell Tumor

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32MalaCards
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MalaCards organs/tissues related to Desmoplastic Small Round Cell Tumor:

32
Bone, Ovary, Lung, Liver, Brain, Spleen, Spinal cord, Small intestine, Lymph node, Bone marrow, Testis, Pancreas

Animal Models for Desmoplastic Small Round Cell Tumor or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Desmoplastic Small Round Cell Tumor:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.7TGFB3, ENO2, MYOG, MYOD1, MYF5
2MP:00053699.5PDGFA, WT1, MYF5, MYOD1, ACTC1
3MP:00028738.9TGFB3, CALB2, EWSR1, WT1, SYP, MYF5

Publications for Desmoplastic Small Round Cell Tumor

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Genetic Variations for Desmoplastic Small Round Cell Tumor

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Expression for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Desmoplastic Small Round Cell Tumor

Search GEO for disease gene expression data for Desmoplastic Small Round Cell Tumor.

Pathways for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3MYF5
210.0MYOG, MYOD1, MYF5
39.8TSPAN7, BAIAP3, WT1, EWSR1, PDGFA

Compounds for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1procollagen4410.7ALPP
2askin4410.5EWSR1, ENO2
3estrogen4410.5CALB2, MYOD1, MYOG
4butyrate4410.4MYOG, MYOD1, CALB2
5reticulin4410.4SYP, DES, MUC1, ACTC1
6orcein4410.4DES, ACTC1
7smcc4410.4SYP, ENO2
8progestin4410.3DES, MUC1, ALPP, TGFB3
9mucicarmine4410.3SYP, ACTC1, MUC1, DES, CALB2
10s 1004410.3MUC1, ACTC1, DES, SYP, ENO2
11silver4410.2CALB2, DES, SYP, ENO2
12ethanol44 49 11 2413.2CALB2, DES, SYP, MUC1, TGFB3
13formaldehyde44 2411.2ACTC1, MUC1, SYP, DES, ENO2
14hyaluronic acid44 2411.2DES, MUC1, WT1, CALB2, ENO2
15ganglioside4410.2SYP, ENO2, DES
16glucose4410.2MYOG, MUC1, ACTC1
17bromodeoxyuridine4410.1MYOG, MYOD1, DES, MYF5, ENO2
18dopamine44 28 11 2413.1CALB2, SLC29A4, ENO2, TGFB3
19choline44 11 2412.1CALB2, ENO2, ALPP, SYP
20glycogen44 2411.1ENO2, SYP, ACTC1, DES, MUC1
2112-o-tetradecanoylphorbol 13-acetate4410.1MYOG, MYOD1, DES, WT1, PDGFA, MUC1
22hematoxylin4410.1CALB2, DES, SYP, MUC1, ACTC1, ENO2
23creatinine4410.1WT1, MYF5, MYOD1, ACTC1, ALPP, SYP
24chloramphenicol44 2 1112.1WT1, MYOD1, ALPP, MUC1
25norepinephrine44 11 2412.1SLC29A4, ENO2, ALPP, DES, SYP
26toluidine4410.1ENO2, DES
27forskolin44 49 1112.1ENO2, MUC1, WT1, SYP, MYOG
28b 7234410.0MUC1, CALB2, WT1, DES, SYP, ACTC1
29acetylcholine44 49 28 11 2414.0SYP, ENO2, MYF5, CALB2, MYOD1, MYOG
30cyclic amp44 2411.0SYP, EWSR1, MUC1, TGFB3, PDGFA, MYOD1
31oligonucleotide4410.0TGFB3, MYOG, MYOD1, PDGFA, EWSR1, WT1
32ribonucleic acid449.9MUC1, WT1, ACTC1, ENO2, TGFB3, PDGFA
33cisplatin44 49 59 1112.9SYP, MUC1, ALPP, ENO2, BAIAP3
34thymidine44 2410.9DES, WT1, ALPP, TGFB3, CALB2, MUC1
35cysteine449.9DES, ALPP, MYOG, MYOD1, SYP, MUC1
36steroid449.9WT1, ACTC1, MYOG, SYP, DES, CALB2
37biotin44 11 2411.8ACTC1, MUC1, DES
38dexamethasone44 49 28 1112.8ALPP, TGFB3, MUC1, ENO2, SYP, PDGFA
39nitric oxide44 11 2411.8ENO2, TGFB3, MUC1, MYOG, SYP, WT1
40pd 98,059449.8ALPP, MYOG, PDGFA, ENO2
41cholesterol44 28 11 2412.7MUC1, SYP, ENO2, TSPAN7, ALPP
42oxygen44 2410.7ENO2, DES, PDGFA, MYOD1, TGFB3, ACTC1
43progesterone44 59 28 11 2413.7TGFB3, WT1, PDGFA, DES, SYP, CALB2
44serine449.7SYP, DES, MYOG, MUC1, MYOD1, ALPP
45testosterone44 59 11 2412.4ALPP, ENO2, ACTC1, MYOD1, SYP, DES
46tyrosine449.3MUC1, ACTC1, ENO2, TGFB3, MYOD1, CALB2
47vegf449.3TGFB3, ALPP, DES, SYP, ENO2, ACTC1
48calcium44 49 11 2412.2MUC1, MYOG, ALPP, ACTC1, MYOD1, MYF5
49retinoic acid44 2410.1MYF5, MYOD1, EWSR1, WT1, DES, SYP
50paraffin449.0CALB2, ALPP, ENO2, MYOD1, TGFB3, ACTC1

GO Terms for genes affiliated with Desmoplastic Small Round Cell Tumor

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16Gene Ontology
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Biological processes related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular response to estradiol stimulusGO:07139210.2MYOG, MYOD1
2muscle cell fate commitmentGO:04269310.2MYF5, MYOG, MYOD1
3positive regulation of muscle cell differentiationGO:05114910.1MYF5, MYOD1, MYOG
4muscle cell differentiationGO:04269210.0MYOG, MYOD1, MYF5
5skeletal muscle tissue developmentGO:0075199.9MYOG, MYF5, MYOD1
6skeletal muscle fiber developmentGO:0487419.9MYOG, MYOD1

Molecular functions related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.7TGFB3, MYOG, MYOD1, MYF5, PDGFA
2E-box bindingGO:0708889.7MYOG, MYOD1, MYF5

Products for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources for Desmoplastic Small Round Cell 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet