eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| inflammatory myofibroblastic tumor | ||||
| Disease ID | 1353 |
|---|---|
| Disease | inflammatory myofibroblastic tumor |
| Definition | A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. |
| Synonym | imt inflamm pseudotumor inflammatory fibrosarcoma inflammatory myofibroblastic neoplasm inflammatory myofibroblastic tumour inflammatory pseudotumor inflammatory pseudotumor (morphologic abnormality) inflammatory pseudotumors inflammatory pseudotumour myofibroblastic tumor myofibroblastic tumor (morphologic abnormality) myofibroblastic tumors myofibroblastic tumour pseudotumor inflamm pseudotumor inflammatory pseudotumor, inflammatory pseudotumors, inflammatory |
| Orphanet | |
| DOID | |
| UMLS | C0334121 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:24) C0023827 | liposarcoma | 2 C0030807 | pemphigus | 2 C0024299 | lymphoma | 2 C0021831 | bowel disease | 1 C0879615 | stromal tumour | 1 C0206754 | neuroendocrine tumors | 1 C0019069 | hemophilia | 1 C0740277 | bile duct carcinoma | 1 C0238463 | papillary thyroid cancer | 1 C0027813 | neuritis | 1 C0016045 | fibroma | 1 C0007115 | thyroid cancer | 1 C0032326 | pneumothorax | 1 C0018552 | hamartoma | 1 C0029134 | optic neuritis | 1 C0004623 | bacterial infection | 1 C0007115 | thyroid ca | 1 C1261473 | sarcoma | 1 C0043092 | wegener's granulomatosis | 1 C0008311 | cholangitis | 1 C0238198 | gastrointestinal stromal tumour | 1 C0021390 | inflammatory bowel disease | 1 C0015469 | facial paralysis | 1 C0206754 | neuroendocrine tumor | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:35) 238 | ALK | 6.489 | DISEASES 54880 | BCOR | 1.35 | DISEASES 800 | CALD1 | 4.071 | DISEASES 833 | CARS | 2.147 | DISEASES 9332 | CD163 | 1.87 | DISEASES 8218 | CLTCL1 | 1.042 | DISEASES 1378 | CR1 | 1.924 | DISEASES 1380 | CR2 | 2.594 | DISEASES 64764 | CREB3L2 | 2.129 | DISEASES 1499 | CTNNB1 | 1.797 | DISEASES 1639 | DCTN1 | 2.802 | DISEASES 27436 | EML4 | 1.969 | DISEASES 2120 | ETV6 | 2.1 | DISEASES 2130 | EWSR1 | 1.902 | DISEASES 388698 | FLG2 | 1.987 | DISEASES 2335 | FN1 | 2.198 | DISEASES 6624 | FSCN1 | 1.711 | DISEASES 3178 | HNRNPA1 | 1.285 | DISEASES 4193 | MDM2 | 1.706 | DISEASES 9968 | MED12 | 1.278 | DISEASES 2315 | MLANA | 1.26 | DISEASES 344022 | NOTO | 1.945 | DISEASES 4916 | NTRK3 | 1.805 | DISEASES 5081 | PAX7 | 1.108 | DISEASES 27445 | PCLO | 1.559 | DISEASES 5792 | PTPRF | 1.922 | DISEASES 5935 | RBM3 | 1.993 | DISEASES 6098 | ROS1 | 3.449 | DISEASES 6281 | S100A10 | 1.547 | DISEASES 22872 | SEC31A | 3.111 | DISEASES 23583 | SMUG1 | 1.997 | DISEASES 727837 | SSX2B | 1.048 | DISEASES 7170 | TPM3 | 5.08 | DISEASES 7171 | TPM4 | 4.355 | DISEASES 7321 | UBE2D1 | 1.599 | DISEASES |
| Locus | Symbol | Locus(Total Locus:6) |
| Disease ID | 1353 |
|---|---|
| Disease | inflammatory myofibroblastic tumor |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:17) HP:0002664 | Neoplasia | 3 HP:0002665 | Lymphoma | 2 HP:0012034 | Liposarcoma | 2 HP:0003470 | Inability to move | 2 HP:0012223 | Ruptured spleen | 1 HP:0001548 | Overgrowth | 1 HP:0100653 | Optic neuritis | 1 HP:0100242 | Sarcoma | 1 HP:0010566 | Hamartoma | 1 HP:0001733 | Pancreatic inflammation | 1 HP:0010614 | Fibroma | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0001744 | Splenomegaly | 1 HP:0002249 | Melena | 1 HP:0002107 | Collapsed lung | 1 HP:0007209 | Facial paresis | 1 HP:0030151 | Cholangitis | 1 |
| Disease ID | 1353 |
|---|---|
| Disease | inflammatory myofibroblastic tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113488022 | 20393746 | 673 | BRAF | umls:C0334121 | BeFree | In this study, KIT exons 9, 11, 13, and 17, PDGFRA exons 12, 14, and 18, and a part of exon 15 BRAF for point mutation V600E were screened in 23 cases of Vanek's tumor, both classical (n = 16) and inflammatory pseudotumor-like (n = 7). | 0.000271442 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20393746 | 3815 | KIT | umls:C0334121 | BeFree | In this study, KIT exons 9, 11, 13, and 17, PDGFRA exons 12, 14, and 18, and a part of exon 15 BRAF for point mutation V600E were screened in 23 cases of Vanek's tumor, both classical (n = 16) and inflammatory pseudotumor-like (n = 7). | 0.000814326 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20393746 | 5156 | PDGFRA | umls:C0334121 | BeFree | In this study, KIT exons 9, 11, 13, and 17, PDGFRA exons 12, 14, and 18, and a part of exon 15 BRAF for point mutation V600E were screened in 23 cases of Vanek's tumor, both classical (n = 16) and inflammatory pseudotumor-like (n = 7). | 0.000542884 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1353 |
|---|---|
| Disease | inflammatory myofibroblastic tumor |
| Case | (Waiting for update.) |