PedAM

Pediatric Disease Annotations & Medicines


	dermatofibrosarcoma protuberans

Disease ID	200
Disease	dermatofibrosarcoma protuberans
Definition	A sarcoma of the deep layers of the skin. The tumors are locally aggressive tends to recur but rarely metastatic. It can be classified into variants depending on the cell type tumors are derived from or by its characteristics: Pigmented variant from MELANIN-containing DERMAL DENDRITIC CELLS; Myxoid variant, myxoid STROMAL CELLS; Giant cell variant characterized by GIANT CELLS in the tumors; and Fibrosarcomatous variant chracterized by tumor areas histologically indistinguishable from FIBROSARCOMA.
Synonym	[m]dermatofibrosarcoma nos [m]dermatofibrosarcoma nos (morphologic abnormality) [m]dermatofibrosarcoma nos (qualifier value) darier ferrand tumor darier hoffmann tumor darier-ferrand tumor darier-hoffmann tumor dermatofibrosarcoma dermatofibrosarcoma (disorder) dermatofibrosarcoma [disease/finding] dermatofibrosarcoma protuberan dermatofibrosarcomas protuberan, dermatofibrosarcoma protuberans, dermatofibrosarcoma tumor, darier-ferrand tumor, darier-hoffmann
Orphanet	ORPHANET:31112
OMIM	OMIM:607907
DOID	DOID:3507
UMLS	C0206647
MeSH	D018223
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:7) C0036203 \| cutaneous sarcoid \| 1 C0018553 \| cowden syndrome \| 1 C0153676 \| pulmonary metastases \| 1 C0346976 \| pancreatic metastasis \| 1 C0027708 \| wilms tumor \| 1 C0153676 \| pulmonary metastasis \| 1 C0036203 \| cutaneous sarcoidosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) COL1A1 \| 1277 \| ORPHANET;GHR PDGFB \| 5155 \| ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:92) 4706 \| NDUFAB1 \| DISEASES 7049 \| TGFBR3 \| DISEASES 4320 \| MMP11 \| DISEASES 1277 \| COL1A1 \| DISEASES 8456 \| FOXN1 \| DISEASES 2026 \| ENO2 \| DISEASES 7130 \| TNFAIP6 \| DISEASES 9098 \| USP6 \| DISEASES 968 \| CD68 \| DISEASES 29775 \| CARD10 \| DISEASES 2006 \| ELN \| DISEASES 9667 \| SAFB2 \| DISEASES 2521 \| FUS \| DISEASES 5156 \| PDGFRA \| DISEASES 4069 \| LYZ \| DISEASES 23247 \| KIAA0556 \| DISEASES 384 \| ARG2 \| DISEASES 5159 \| PDGFRB \| DISEASES 6598 \| SMARCB1 \| DISEASES 7299 \| TYR \| DISEASES 2891 \| GRIA2 \| DISEASES 2247 \| FGF2 \| DISEASES 1462 \| VCAN \| DISEASES 1009 \| CDH11 \| DISEASES 7157 \| TP53 \| DISEASES 57410 \| SCYL1 \| DISEASES 3026 \| HABP2 \| DISEASES 22925 \| PLA2R1 \| DISEASES 221895 \| JAZF1 \| DISEASES 84779 \| NAA11 \| DISEASES 9372 \| ZFYVE9 \| DISEASES 3815 \| KIT \| DISEASES 57519 \| STARD9 \| DISEASES 117159 \| DCD \| DISEASES 51151 \| SLC45A2 \| DISEASES 4665 \| NAB2 \| DISEASES 79058 \| ASPSCR1 \| DISEASES 794 \| CALB2 \| DISEASES 4046 \| LSP1 \| DISEASES 947 \| CD34 \| DISEASES 27243 \| CHMP2A \| DISEASES 3642 \| INSM1 \| DISEASES 7030 \| TFE3 \| DISEASES 23512 \| SUZ12 \| DISEASES 4222 \| MEOX1 \| DISEASES 3039 \| HBA1 \| DISEASES 23527 \| ACAP2 \| DISEASES 3052 \| HCCS \| DISEASES 64764 \| CREB3L2 \| DISEASES 5155 \| PDGFB \| DISEASES 115908 \| CTHRC1 \| DISEASES 7490 \| WT1 \| DISEASES 285525 \| YIPF7 \| DISEASES 8013 \| NR4A3 \| DISEASES 81608 \| FIP1L1 \| DISEASES 23583 \| SMUG1 \| DISEASES 2804 \| GOLGB1 \| DISEASES 26762 \| HAVCR1 \| DISEASES 347 \| APOD \| DISEASES 9967 \| THRAP3 \| DISEASES 5265 \| SERPINA1 \| DISEASES 7048 \| TGFBR2 \| DISEASES 153769 \| SH3RF2 \| DISEASES 9332 \| CD163 \| DISEASES 4311 \| MME \| DISEASES 6663 \| SOX10 \| DISEASES 800 \| CALD1 \| DISEASES 2205 \| FCER1A \| DISEASES 10763 \| NES \| DISEASES 6277 \| S100A6 \| DISEASES 6280 \| S100A9 \| DISEASES 10360 \| NPM3 \| DISEASES 7321 \| UBE2D1 \| DISEASES 4303 \| FOXO4 \| DISEASES 727837 \| SSX2B \| DISEASES 4958 \| OMD \| DISEASES 7088 \| TLE1 \| DISEASES 6756 \| SSX1 \| DISEASES 7161 \| TP73 \| DISEASES 2315 \| MLANA \| DISEASES 80333 \| KCNIP4 \| DISEASES 2254 \| FGF9 \| DISEASES 3736 \| KCNA1 \| DISEASES 56953 \| NT5M \| DISEASES 12 \| SERPINA3 \| DISEASES 8091 \| HMGA2 \| DISEASES 387836 \| CLEC2A \| DISEASES 2130 \| EWSR1 \| DISEASES 6760 \| SS18 \| DISEASES 4585 \| MUC4 \| DISEASES 56 \| ACRV1 \| DISEASES 1649 \| DDIT3 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) PDGFB \| 22q13.1 COL1A1 \| 17q21.33

Disease ID	200
Disease	dermatofibrosarcoma protuberans
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:6) HP:0001072 \| Thickened skin HP:0100244 \| Fibrosarcoma HP:0008069 \| Neoplasm of the skin HP:0200042 \| Skin ulcer HP:0001482 \| Subcutaneous nodule HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0002664 \| Neoplasia \| 1 HP:0002667 \| Wilms tumor \| 1

Disease ID	200
Disease	dermatofibrosarcoma protuberans
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0406579 \| giant cell fibroblastoma C0346976 \| pancreatic metastasis C0153687 \| skin metastasis C0153676 \| pulmonary metastasis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0406579 \| giant cell fibroblastoma \| 1 C0346976 \| pancreatic metastasis \| 1 C0153676 \| pulmonary metastasis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0200042	Skin ulcer	MP:0003257	abnormal abdominal wall morphology;HP:0100242	Sarcoma

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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