PedAM
Pediatric Disease Annotations & Medicines
| congenital fibrosarcoma | ||||
| Disease ID | 1895 |
|---|---|
| Disease | congenital fibrosarcoma |
| Definition | A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. |
| Synonym | infantile fibrosarcoma infantile fibrosarcoma (congenital fibrosarcoma) infantile fibrosarcoma (disorder) infantile fibrosarcoma (morphologic abnormality) |
| DOID | |
| UMLS | C0334459 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 4015 | LOX | DISEASES 4656 | MYOG | DISEASES 4016 | LOXL1 | DISEASES 6598 | SMARCB1 | DISEASES 2252 | FGF7 | DISEASES 8826 | IQGAP1 | DISEASES 1213 | CLTC | DISEASES 207 | AKT1 | DISEASES 342096 | GOLGA6A | DISEASES 9965 | FGF19 | DISEASES 861 | RUNX1 | DISEASES 3960 | LGALS4 | DISEASES 5604 | MAP2K1 | DISEASES 3667 | IRS1 | DISEASES 27436 | EML4 | DISEASES 7329 | UBE2I | DISEASES 1482 | NKX2-5 | DISEASES 5454 | POU3F2 | DISEASES 7490 | WT1 | DISEASES 2885 | GRB2 | DISEASES 50618 | ITSN2 | DISEASES 4916 | NTRK3 | DISEASES 7170 | TPM3 | DISEASES 5081 | PAX7 | DISEASES 727837 | SSX2B | DISEASES 2308 | FOXO1 | DISEASES 5077 | PAX3 | DISEASES 7341 | SUMO1 | DISEASES 12 | SERPINA3 | DISEASES 2120 | ETV6 | DISEASES 9612 | NCOR2 | DISEASES 4908 | NTF3 | DISEASES 2130 | EWSR1 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1895 |
|---|---|
| Disease | congenital fibrosarcoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1895 |
|---|---|
| Disease | congenital fibrosarcoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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