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 | 
|---|
 	Dystonia Exome Panel.
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 %  | 
 	PDGFB. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). 
PDGFB
 
Specificity
 
100 % 
Genes
 
50 %  | 
 	Dermatofibrosarcoma protuberans (sequence analysis of PDGFB gene).
By CGC Genetics (Portugal). 
PDGFB
 
Specificity
 
100 % 
Genes
 
50 %  | 
 	Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States). 
SLC20A2, XPR1, PDGFB, PDGFRB
 
Specificity
 
25 % 
Genes
 
50 %  | 
 	Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection.
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 %  | 
 	Neurogenetic Disorders - panels.
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 %  | 
 	Dermatofibrosarcoma protuberans.
By Centogene AG - the Rare Disease Company (Germany). 
PDGFB
 
Specificity
 
100 % 
Genes
 
50 %  | 
 	Basal ganglia calcification Panel.
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.
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	Dystonia Exome Panel.
	PDGFB. Complete sequencing.
	Dermatofibrosarcoma protuberans (sequence analysis of PDGFB gene).
	Neurogenetic Disorders - panels.