PedAM
Pediatric Disease Annotations & Medicines
| desmoid tumor | ||||
| Disease ID | 326 |
|---|---|
| Disease | desmoid tumor |
| Definition | A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed) |
| Synonym | aggressive fibromatoses aggressive fibromatosis aggressive fibromatosis (morphologic abnormality) deep fibromatosis deep fibromatosis (disorder) deep fibromatosis/desmoid tumor desmoid desmoid fibromatosis desmoid fibromatosis (disorder) desmoid tumors desmoid tumour desmoid tumours desmoid, nos desmoid-type fibromatosis desmoids extra-abdominal desmoid fibromatoses, aggressive fibromatosis desmoid fibromatosis, aggressive fibromatosis, aggressive [disease/finding] invasive fibroma musculoaponeurotic fibromatosis |
| Orphanet | |
| UMLS | C0079218 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0032580 | familial adenomatous polyposis | 17 C0032580 | adenomatous polyposis | 17 C0026764 | myeloma | 1 C0017525 | giant cell tumor | 1 C0032580 | familial adenomatous polyposis coli | 1 C0032580 | familial adenomatous polyposis syndrome | 1 C0008479 | chondrosarcoma | 1 C0032580 | adenomatous polyposis coli | 1 C0017525 | giant cell tumors | 1 C0025202 | melanoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 326 |
|---|---|
| Disease | desmoid tumor |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0000126 | Hydronephrosis HP:0005214 | Intestinal obstruction HP:0010614 | Fibroma HP:0002239 | Gastrointestinal hemorrhage HP:0002829 | Arthralgia HP:0010935 | Abnormality of the upper urinary tract HP:0100749 | Chest pain HP:0004298 | Abnormality of the abdominal wall HP:0100806 | Sepsis HP:0200008 | Intestinal polyposis HP:0001376 | Limitation of joint mobility HP:0002797 | Osteolysis HP:0003011 | Abnormality of the musculature HP:0008069 | Neoplasm of the skin HP:0002024 | Malabsorption HP:0001482 | Subcutaneous nodule HP:0002027 | Abdominal pain HP:0100245 | Desmoid tumors HP:0003326 | Myalgia HP:0007703 | Abnormality of retinal pigmentation |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0030731 | Carcinoma | 1 HP:0003764 | Naevus | 1 HP:0002664 | Neoplasia | 1 HP:0006765 | Chondrosarcoma | 1 HP:0002861 | Melanoma | 1 HP:0012587 | Gross hematuria | 1 HP:0001397 | Hepatic steatosis | 1 HP:0001945 | Fever | 1 |
| Disease ID | 326 |
|---|---|
| Disease | desmoid tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0265479 | trisomy 20 |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913409 | 23913621 | 1495 | CTNNA1 | umls:C0079218 | BeFree | A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (cadherin-associated protein) β-1 (CTNNB1) gene as a molecular predictor of local recurrence in patients with primary, sporadic desmoid tumor (DT) has been reported. | 0.000271442 | 2013 | CTNNB1 | 3 | 41224646 | C | A,G,T |
| rs121913409 | 23913621 | 29119 | CTNNA3 | umls:C0079218 | BeFree | A role for the serine to phenylalanine substitution at codon 45 (the S45F mutation) in the catenin (cadherin-associated protein) β-1 (CTNNB1) gene as a molecular predictor of local recurrence in patients with primary, sporadic desmoid tumor (DT) has been reported. | 0.000271442 | 2013 | CTNNB1 | 3 | 41224646 | C | A,G,T |
| rs121913409 | 24788118 | 1499 | CTNNB1 | umls:C0079218 | BeFree | CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid tumors: a pilot study. | 0.018140455 | 2014 | CTNNB1 | 3 | 41224646 | C | A,G,T |
| rs3822214 | 25174682 | 3815 | KIT | umls:C0079218 | BeFree | Impact of KIT exon 10 M541L allelic variant on the response to imatinib in aggressive fibromatosis: analysis of the desminib series by competitive allele specific Taqman PCR technology. | 0.000814326 | 2014 | KIT | 4 | 54727298 | A | C,G |
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:3) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0079218 | imatinib mesylate | D000068877 | - | fibromatosis, aggressive | MESH:D018222 | therapeutic | 17453242 | ||
| C0079218 | melphalan | D008558 | 148-82-3 | fibromatosis, aggressive | MESH:D018222 | therapeutic | 19944662 | ||
| C0079218 | sulindac | D013467 | 38194-50-2 | fibromatosis, aggressive | MESH:D018222 | therapeutic | 19069698 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |