PedAM

Pediatric Disease Annotations & Medicines


	inflammatory myofibroblastic tumor

Disease ID	789
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	ORPHANET:178342
DOID	DOID:0050905
UMLS	C0334121
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0024299 \| lymphoma \| 2 C0003615 \| appendicitis \| 1 C0740277 \| bile duct carcinoma \| 1 C0023798 \| lipoma \| 1 C0085693 \| acute appendicitis \| 1 C0023827 \| liposarcoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) TPM3 \| 7170 \| ORPHANET TPM4 \| 7171 \| ORPHANET ALK \| 238 \| ORPHANET RANBP2 \| 5903 \| ORPHANET CLTC \| 1213 \| ORPHANET CARS \| 833 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:68) 6405 \| SEMA3F \| DISEASES 51009 \| DERL2 \| DISEASES 595 \| CCND1 \| DISEASES 4617 \| MYF5 \| DISEASES 3488 \| IGFBP5 \| DISEASES 471 \| ATIC \| DISEASES 10342 \| TFG \| DISEASES 4656 \| MYOG \| DISEASES 1088 \| CEACAM8 \| DISEASES 4654 \| MYOD1 \| DISEASES 968 \| CD68 \| DISEASES 3852 \| KRT5 \| DISEASES 6382 \| SDC1 \| DISEASES 1401 \| CRP \| DISEASES 5156 \| PDGFRA \| DISEASES 466 \| ATF1 \| DISEASES 943 \| TNFRSF8 \| DISEASES 7531 \| YWHAE \| DISEASES 29999 \| FSCN3 \| DISEASES 1213 \| CLTC \| DISEASES 7157 \| TP53 \| DISEASES 54539 \| NDUFB11 \| DISEASES 5903 \| RANBP2 \| DISEASES 3815 \| KIT \| DISEASES 2264 \| FGFR4 \| DISEASES 9965 \| FGF19 \| DISEASES 4286 \| MITF \| DISEASES 4869 \| NPM1 \| DISEASES 794 \| CALB2 \| DISEASES 171389 \| NLRP6 \| DISEASES 947 \| CD34 \| DISEASES 8496 \| PPFIBP1 \| DISEASES 4684 \| NCAM1 \| DISEASES 27436 \| EML4 \| DISEASES 64764 \| CREB3L2 \| DISEASES 27445 \| PCLO \| DISEASES 23583 \| SMUG1 \| DISEASES 3178 \| HNRNPA1 \| DISEASES 1499 \| CTNNB1 \| DISEASES 7171 \| TPM4 \| DISEASES 2335 \| FN1 \| DISEASES 22872 \| SEC31A \| DISEASES 9332 \| CD163 \| DISEASES 5792 \| PTPRF \| DISEASES 4916 \| NTRK3 \| DISEASES 1639 \| DCTN1 \| DISEASES 800 \| CALD1 \| DISEASES 1378 \| CR1 \| DISEASES 1380 \| CR2 \| DISEASES 6098 \| ROS1 \| DISEASES 7170 \| TPM3 \| DISEASES 6281 \| S100A10 \| DISEASES 7321 \| UBE2D1 \| DISEASES 9968 \| MED12 \| DISEASES 5081 \| PAX7 \| DISEASES 727837 \| SSX2B \| DISEASES 5935 \| RBM3 \| DISEASES 54880 \| BCOR \| DISEASES 833 \| CARS \| DISEASES 2315 \| MLANA \| DISEASES 6624 \| FSCN1 \| DISEASES 388698 \| FLG2 \| DISEASES 238 \| ALK \| DISEASES 2120 \| ETV6 \| DISEASES 344022 \| NOTO \| DISEASES 2130 \| EWSR1 \| DISEASES 4193 \| MDM2 \| DISEASES 8218 \| CLTCL1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:6) TPM3 \| 1q21.3 CLTC \| 17q23.1 RANBP2 \| 2q13 CARS \| 11p15.4 TPM4 \| 19p13.12-p13.11 ALK \| 2p23.2-p23.1

Disease ID	789
Disease	inflammatory myofibroblastic tumor
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0002665 \| Lymphoma \| 2 HP:0012032 \| Lipoma \| 1 HP:0001548 \| Overgrowth \| 1 HP:0002664 \| Neoplasia \| 1 HP:0012034 \| Liposarcoma \| 1 HP:0002249 \| Melena \| 1 HP:0012223 \| Ruptured spleen \| 1

Disease ID	789
Disease	inflammatory myofibroblastic tumor
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1112570 \| paraneoplastic pemphigus C0020635 \| hypopituitarism
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

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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