eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| dermatofibrosarcoma protuberans | ||||
| Disease ID | 347 |
|---|---|
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0206647 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0027708 | wilms tumor | 1 C0153676 | pulmonary metastasis | 1 C0036203 | cutaneous sarcoid | 1 C0346976 | pancreatic metastasis | 1 C0153676 | pulmonary metastases | 1 C0036203 | cutaneous sarcoidosis | 1 C0018553 | cowden syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:48) 23527 | ACAP2 | 3.655 | DISEASES 56 | ACRV1 | 1.441 | DISEASES 347 | APOD | 3.015 | DISEASES 800 | CALD1 | 2.978 | DISEASES 9332 | CD163 | 2.066 | DISEASES 387836 | CLEC2A | 2.026 | DISEASES 64764 | CREB3L2 | 5.142 | DISEASES 115908 | CTHRC1 | 1.706 | DISEASES 1649 | DDIT3 | 1.017 | DISEASES 2130 | EWSR1 | 2.95 | DISEASES 2205 | FCER1A | 1.204 | DISEASES 2254 | FGF9 | 1.231 | DISEASES 81608 | FIP1L1 | 1.651 | DISEASES 4303 | FOXO4 | 4.988 | DISEASES 2804 | GOLGB1 | 1.103 | DISEASES 26762 | HAVCR1 | 1.424 | DISEASES 3039 | HBA1 | 1.075 | DISEASES 3052 | HCCS | 1.844 | DISEASES 8091 | HMGA2 | 1.05 | DISEASES 3736 | KCNA1 | 1.013 | DISEASES 80333 | KCNIP4 | 2.111 | DISEASES 4222 | MEOX1 | 2.549 | DISEASES 2315 | MLANA | 1.883 | DISEASES 4311 | MME | 2.247 | DISEASES 4585 | MUC4 | 1.505 | DISEASES 10763 | NES | 2.399 | DISEASES 10360 | NPM3 | 2.61 | DISEASES 8013 | NR4A3 | 1.215 | DISEASES 56953 | NT5M | 1.113 | DISEASES 4958 | OMD | 1.343 | DISEASES 5155 | PDGFB | 6.654 | DISEASES 6277 | S100A6 | 1.613 | DISEASES 6280 | S100A9 | 1.433 | DISEASES 5265 | SERPINA1 | 2.331 | DISEASES 12 | SERPINA3 | 2.52 | DISEASES 153769 | SH3RF2 | 3.398 | DISEASES 23583 | SMUG1 | 1.133 | DISEASES 6663 | SOX10 | 2.002 | DISEASES 6760 | SS18 | 2.263 | DISEASES 6756 | SSX1 | 1.885 | DISEASES 727837 | SSX2B | 1.671 | DISEASES 7048 | TGFBR2 | 1.109 | DISEASES 9967 | THRAP3 | 2.696 | DISEASES 7088 | TLE1 | 2.246 | DISEASES 7161 | TP73 | 1.157 | DISEASES 7321 | UBE2D1 | 1.825 | DISEASES 7490 | WT1 | 1.873 | DISEASES 285525 | YIPF7 | 2.827 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 347 |
|---|---|
| Disease | dermatofibrosarcoma protuberans |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0010783 | Erythema HP:0100244 | Fibrosarcoma HP:0001482 | Subcutaneous nodule HP:0001072 | Thickened skin HP:0200042 | Skin ulcer HP:0008069 | Neoplasm of the skin |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 347 |
|---|---|
| Disease | dermatofibrosarcoma protuberans |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0100244 | Fibrosarcoma | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| Disease ID | 347 |
|---|---|
| Disease | dermatofibrosarcoma protuberans |
| Case | (Waiting for update.) |