Dermatofibrosarcoma Protuberans (DFSP) malady

Skin diseases, Cancer diseases, Genetic diseases categories

Summaries for Dermatofibrosarcoma Protuberans

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Dermatofibrosarcoma protuberans is an uncommon tumor that arises in the skin. the tumor is firm and often flesh-colored although it can be reddish, bluish, or purplish. the tumor is often found on the chest or shoulders, but it can be found on other parts of the body.  dermatofibrosarcoma protuberans may cause no symptoms, and the initial size of the tumor tends to be around 1 to 5 centimeters. this tumor has a low potential to spread to other tissues (metastasize). treatment often involves surgery to remove the tumor, such as by mohs’ micrographic surgery.  last updated: 11/18/2010

MalaCards: Dermatofibrosarcoma Protuberans, also known as DFSP, is related to dermatofibrosarcoma and sarcoma, and has symptoms including subcutaneous nodules/lipomas/tumefaction/swelling, chronic skin infection/ulcerations/ulcers/cancrum and erythema/erythematous lesions/erythroderma/polymorphous erythema. An important gene associated with Dermatofibrosarcoma Protuberans is PDGFB (platelet-derived growth factor beta polypeptide), and among its related pathways are Osteoblast Signaling and Striated Muscle Contraction. The compounds estrogen and procollagen have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are muscle and integument.

Genetics Home Reference:21 Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in the deep layers of skin. This condition is a type of soft tissue sarcoma, which are cancers that affect skin, fat, muscle, and similar tissues.

Wikipedia:63 Dermatofibrosarcoma protuberans (DFSP) is a very rare tumor. It is a rare neoplasm of the dermis layer... more...

Description from OMIM:46 607907

Aliases & Classifications for Dermatofibrosarcoma Protuberans

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases, Genetic diseases
Anatomical: Skin diseases

Characteristics (Orphanet epidemiological data):

dermatofibrosarcoma protuberans:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Adult

Aliases & Descriptions:

dermatofibrosarcoma protuberans 42 21 46 44 48 60
dfsp 42 21 48
dermatofibrosarcoma 21 60
metastatic dermatofibrosarcoma protuberans 42
familial dermatofibrosarcoma protuberans 42
giant cell fibroblastoma 42
darier-hoffmann tumor 21
darier-ferrand tumor 21

External Ids:

SNOMED-CT via Orphanet57 238863004, 276799004, 128742004
UMLS via Orphanet61 C0392784
OMIM46 607907
MESH via Orphanet35 C538219

Related Diseases for Dermatofibrosarcoma Protuberans

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

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1dermatofibrosarcoma32.3COL1A1, PDGFB
2sarcoma30.9S100B, VIM, S100A1, PDGFB, PDGFRB, ACTC1
3fibrous histiocytoma30.8CD34
4fibrosarcoma30.8VIM, PDGFRB, NES, DES, CD34, ACTC1
5giant cell tumor30.8VIM, S100B, CTSK, F13A1, DES, MUC1
6lipoma30.5CD34, DES, S100A1
8cutaneous fibrous histiocytoma30.2MMP11, CD34
9endometriosis30.2ACTC1, MMP11
10choroid plexus papilloma30.2MUC1, S100B
11epithelioid sarcoma30.2VIM, MUC1, CD34
12kaposi's sarcoma30.2PDGFB, F13A1, CD34
13glomus tumor30.2ACTC1, DES, S100A1, VIM
14spindle cell sarcoma30.2VIM, S100B, DES, MUC1, ACTC1
15meningioma30.2VIM, S100B, S100A1, PDGFB, PDGFRB, MUC1
16breast cancer30.2VIM, S100A1, APOD, MUC1, MMP11, ACTC1
17gastrointestinal stromal tumor30.2VIM, S100B, S100A1, PDGFRB, NES, DES
18adenocarcinoma30.2VIM, PDGFB, PDGFRB, NES, F13A1, MUC1
19melanoma30.2DES, CD34, EIF2AK3, MMP11, KIT, ACTC1
20basal cell carcinoma29.8F13A1, CD34, MMP11, ACTC1
22burn scar10.3
24merkel cell carcinoma10.3
25spindle cell lipoma10.3
27skin sarcoma10.3
28bednar's tumor10.3
30breast reconstruction10.2
31arteriovenous fistula10.2
33cushing's syndrome10.2
34malignant giant cell tumor of soft parts10.2
35adult fibrosarcoma10.2
36skin glomus tumor10.2
37acquired immunodeficiency syndrome10.2
38mycosis fungoides10.2
39adenosine deaminase deficiency10.2
40bone giant cell tumor10.2
41breast disease10.2
43malignant giant cell tumor10.2
46shwachman-diamond syndrome10.2

Graphical network of the top 20 diseases related to Dermatofibrosarcoma Protuberans:

Diseases related to dermatofibrosarcoma protuberans

Clinical Features for Dermatofibrosarcoma Protuberans

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46OMIM, 48Orphanet
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Clinical features from OMIM:



  • subcutaneous nodules/lipomas/tumefaction/swelling
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • thick skin/pachydermia/orange skin
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)

Drugs & Therapeutics for Dermatofibrosarcoma Protuberans

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

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Drug clinical trials:

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Genetic Tests for Dermatofibrosarcoma Protuberans

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Anatomical Context for Dermatofibrosarcoma Protuberans

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MalaCards organs/tissues related to Dermatofibrosarcoma Protuberans:


Animal Models for Dermatofibrosarcoma Protuberans or affiliated genes

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MGI Mouse Phenotypes related to Dermatofibrosarcoma Protuberans:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.2PDGFB, PDGFRB, ACTC1
2MP:001077110.0CD34, PDGFB, S100B, COL1A1
3MP:00053799.6PDGFRB, CTSK, EIF2AK3, KIT
4MP:00053859.3COL1A1, VIM, S100A1, PDGFB, PDGFRB, F13A1
5MP:00053869.1COL1A1, VIM, S100B, S100A1, APOD, NES

Publications for Dermatofibrosarcoma Protuberans

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Genetic Variations for Dermatofibrosarcoma Protuberans

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Expression for genes affiliated with Dermatofibrosarcoma Protuberans

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dermatofibrosarcoma Protuberans

Search GEO for disease gene expression data for Dermatofibrosarcoma Protuberans.

Pathways for genes affiliated with Dermatofibrosarcoma Protuberans

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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN
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Compounds for genes affiliated with Dermatofibrosarcoma Protuberans

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44Novoseek, 24HMDB, 49PharmGKB, 28IUPHAR, 11DrugBank, 2BitterDB, 59Tocris Bioscience
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Compounds related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

(show top 50)    (show all 74)
idCompoundScoreTop Affiliating Genes
2procollagen4410.6F13A1, P4HTM
3glycogen44 2411.6ACTC1, KIT
4glucose4410.5ACTC1, MUC1, PDGFRB
5creatinine4410.4ACTC1, APOD
6reticulin4410.4VIM, DES, MUC1, ACTC1
7eosin4410.4VIM, S100B, MUC1
8orcein4410.4VIM, S100B, DES, ACTC1
92-methoxyethanol4410.4S100A1, ACTC1, VIM
10toluidine4410.3VIM, S100A1, KIT, DES
11fluorochrome4410.3VIM, KIT, CD34
12aspartate4410.3CTSK, COL1A1, EIF2AK3
13ganglioside4410.2DES, PDGFRB, VIM, NES
14acetylcholine44 49 28 11 2414.2NES, S100A1
15serine4410.2DES, S100B, PDGFB, CTSK, TNFAIP6
16s 1004410.2VIM, ACTC1, MUC1, DES, F13A1, S100B
17silver4410.2F13A1, PDGFB, S100A1, DES, CD34
18chloramphenicol44 2 1112.2S100B, VIM, PDGFB, MUC1, COL1A1
19biotin44 11 2412.1S100A1, DES, MUC1, ACTC1, VIM
20bromodeoxyuridine4410.1PDGFRB, DES, NES, PDGFB, S100B, VIM
21agar4410.1PDGFB, VIM, MUC1, PDGFRB, CD34
22ribonucleic acid4410.1ACTC1, KIT, COL1A1, MUC1, PDGFRB, PDGFB
23dexamethasone44 49 28 1113.1CD163, COL1A1, PDGFB, S100B, TNFAIP6
24mucicarmine4410.1S100A1, VIM, S100B, DES, MUC1, ACTC1
25formaldehyde44 2411.1MUC1, KIT, DES, S100B, VIM, ACTC1
26matrigel4410.1NES, PDGFRB, VIM, ACTC1, MUC1
27imatinib44 49 1112.1COL1A1, S100B, DES, PDGFRB, ACTC1, KIT
28actomyosin4410.1S100A1, VIM, ACTC1
29b 7234410.0VIM, ACTC1, MUC1, S100B, S100A1, F13A1
30methionine4410.0PDGFRB, S100B, VIM, DES, KIT
31thymidine44 2410.9S100B, COL1A1, CD34, KIT, MUC1, DES
3212-o-tetradecanoylphorbol 13-acetate449.9MMP11, DES, CD34, MUC1, VIM
33hyaluronic acid44 2410.9DES, TNFAIP6, VIM, MUC1
34iron44 2410.9F13A1, VIM, S100B, S100A1, ACTC1, DES
35proline449.9DES, PDGFRB, MMP11, P4HTM, CTSK, S100B
36dihydrotestosterone44 28 11 2412.9MUC1, DES, APOD, VIM
37testosterone44 59 11 2412.8MUC1, ACTC1, DES, KIT, S100B, PDGFRB
38oligonucleotide449.8PDGFB, VIM, COL1A1, MMP11, KIT, F13A1
39oxygen44 2410.7P4HTM, EIF2AK3, MMP11, DES, NES, CTSK
40hematoxylin449.7DES, MUC1, CD34, KIT, ACTC1, F13A1
41nitric oxide44 11 2411.7S100B, NES, MUC1, S100A1, EIF2AK3, KIT
42agarose449.7APOD, MUC1, S100B, KIT
43lipid449.6PDGFB, MUC1, CD163, NES, APOD, PDGFRB
44cysteine449.5VIM, DES, MUC1, MMP11, COL1A1, S100B
45vegf449.3DES, PDGFRB, COL1A1, VIM, S100B, PDGFB
46tyrosine449.1S100A1, ACTC1, EIF2AK3, S100B, PDGFB, PDGFRB
47progesterone44 59 28 11 2413.1PDGFRB, APOD, NES, F13A1, DES, MUC1
48retinoic acid44 2410.0COL1A1, VIM, S100B, S100A1, PDGFRB, APOD
49calcium44 49 11 2411.9EIF2AK3, S100A1, COL1A1, KIT, ACTC1, CD163
50paraffin448.9S100A1, ACTC1, KIT, VIM, S100B, PDGFB

GO Terms for genes affiliated with Dermatofibrosarcoma Protuberans

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16Gene Ontology
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Cellular components related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00588210.1DES, NES, VIM
2extracellular spaceGO:0056159.4COL1A1, S100B, PDGFB, APOD, CTSK, KIT
3extracellular regionGO:0055769.2MMP11, COL1A1, S100B, PDGFB, APOD, CTSK

Biological processes related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1metanephric glomerular mesangial cell proliferation involved in metanephros developmentGO:07226210.6PDGFB, PDGFRB
2positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathwayGO:03579310.6PDGFRB, PDGFB
3paracrine signalingGO:03800110.5PDGFB, CD34
4intramembranous ossificationGO:00195710.5COL1A1, CTSK
5cell chemotaxisGO:06032610.5KIT, PDGFRB, PDGFB
6positive regulation of phosphatidylinositol 3-kinase activityGO:04355210.5KIT, PDGFRB, PDGFB
7positive regulation of DNA biosynthetic processGO:200057310.5PDGFRB, PDGFB
8positive regulation of phospholipase C activityGO:01086310.5PDGFRB, KIT
9positive regulation of phosphatidylinositol 3-kinase cascadeGO:01406810.4KIT, PDGFRB, PDGFB
10peptidyl-tyrosine phosphorylationGO:01810810.4KIT, PDGFRB, PDGFB
11positive regulation of chemotaxisGO:05092110.4PDGFRB, PDGFB
12stem cell proliferationGO:07208910.4NES, CD34
13muscle filament slidingGO:03004910.4VIM, DES, ACTC1
14positive regulation of calcium ion importGO:09028010.4PDGFRB, PDGFB
15hemopoiesisGO:03009710.3KIT, CD34, PDGFB
16positive regulation of smooth muscle cell migrationGO:01491110.3PDGFRB, PDGFB
17collagen catabolic processGO:03057410.2COL1A1, CTSK, MMP11
18cardiac myofibril assemblyGO:05500310.1ACTC1, PDGFRB
19extracellular matrix disassemblyGO:02261710.1COL1A1, CTSK, MMP11
20innate immune responseGO:0450879.9KIT, CTSK, PDGFRB, PDGFB, S100B
21extracellular matrix organizationGO:0301989.7COL1A1, PDGFB, CTSK, MMP11

Molecular functions related to Dermatofibrosarcoma Protuberans according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor receptor bindingGO:00516110.3PDGFRB, PDGFB
2platelet-derived growth factor bindingGO:04840710.2PDGFRB, PDGFB, COL1A1
3S100 protein bindingGO:0445489.9S100A1, S100B
4identical protein bindingGO:0428029.6COL1A1, VIM, S100B, S100A1, DES, EIF2AK3

Products for genes affiliated with Dermatofibrosarcoma Protuberans

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Sources for Dermatofibrosarcoma Protuberans

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet