Dermatofibrosarcoma Protuberans
Description
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
Clinical Features
Top most frequent phenotypes and symptoms related to Dermatofibrosarcoma Protuberans
- Neoplasm
- Aggressive behavior
- Erythema
- Leukemia
- Subcutaneous nodule
- Thickened skin
- Skin ulcer
- Neoplasm of the skin
- Sarcoma
- Chronic myelogenous leukemia
And another 3 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available DERMATOFIBROSARCOMA PROTUBERANS have a estimated prevalence of 10 per 100k worldwide.— No data available about the known clinical features onset.
Alternative names
Dermatofibrosarcoma Protuberans Is also known as dfsp, giant cell fibroblastoma.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Dermatofibrosarcoma Protuberans Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Genetic Services Laboratory University of Chicago (United States).
BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)
View the complete list with 150 more genes
Specificity
1 %
Genes
50 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
PDGFB
Specificity
100 %
Genes
50 % |
![]() By CGC Genetics (Portugal).
PDGFB
Specificity
100 %
Genes
50 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SLC20A2, XPR1, PDGFB, PDGFRB
Specificity
25 %
Genes
50 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SLC20A2, SLC6A3, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TARDBP, TWNK, TH, GIGYF2, UCHL1, XPR1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, CHCHD10 , (...)
View the complete list with 48 more genes
Specificity
2 %
Genes
50 % |
![]() By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
Specificity
1 %
Genes
50 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
PDGFB
Specificity
100 %
Genes
50 % |
![]() By CeGaT GmbH (Germany).
SLC20A2, BRAF, TBCE, TREX1, TYROBP, XPR1, CA2, PANK2, SAMHD1, TREM2, RNASEH2A, IFIH1, COL4A1, ADAR, RNASEH2C, RNASEH2B, CTC1, ERCC6, ERCC8, AIRE , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
50 % |
You can get up to 13 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; MODY2 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL EPILEPSY, MYOCLONIC JUVENILE; EJM ROBERTS SYNDROME; RBS