eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| desmoid tumor | ||||
| Disease ID | 552 |
|---|---|
| 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:16) C0032580 | familial adenomatous polyposis | 25 C0032580 | adenomatous polyposis | 25 C0032580 | adenomatous polyposis coli | 2 C0032580 | familial adenomatous polyposis coli | 2 C0011649 | dermoid cysts | 1 C0024523 | malabsorption | 1 C0006142 | breast cancer | 1 C0017525 | giant cell tumor | 1 C0017525 | giant cell tumors | 1 C0011649 | dermoid cyst | 1 C0025202 | melanoma | 1 C0032580 | familial adenomatous polyposis syndrome | 1 C0155616 | secondary hypertension | 1 C0206698 | cholangiocarcinoma | 1 C0018801 | cardiac failure | 1 C0032580 | polyposis coli | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 552 |
|---|---|
| Disease | desmoid tumor |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:20) HP:0002829 | Arthralgia HP:0002239 | Gastrointestinal hemorrhage HP:0003326 | Myalgia HP:0003011 | Abnormality of the musculature HP:0100806 | Sepsis HP:0000126 | Hydronephrosis HP:0200008 | Intestinal polyposis HP:0100749 | Chest pain HP:0002027 | Abdominal pain HP:0001482 | Subcutaneous nodule HP:0008069 | Neoplasm of the skin HP:0004298 | Abnormality of the abdominal wall HP:0010614 | Fibroma HP:0010935 | Abnormality of the upper urinary tract HP:0001376 | Limitation of joint mobility HP:0007703 | Abnormality of retinal pigmentation HP:0002797 | Osteolysis HP:0002024 | Malabsorption HP:0100245 | Desmoid tumors HP:0005214 | Intestinal obstruction |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002664 | Neoplasia | 3 HP:0002861 | Melanoma | 1 HP:0001945 | Fever | 1 HP:0012587 | Gross hematuria | 1 HP:0001397 | Hepatic steatosis | 1 HP:0002024 | Intestinal malabsorption | 1 HP:0003764 | Naevus | 1 HP:0003002 | Breast carcinoma | 1 HP:0030731 | Carcinoma | 1 HP:0003419 | Low back pain | 1 HP:0003418 | Back pain | 1 HP:0001635 | Congestive heart failure | 1 HP:0200040 | Epidermal inclusion cyst | 1 |
| Disease ID | 552 |
|---|---|
| Disease | desmoid tumor |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0265479 | trisomy 20 |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total 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:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0100245 | Desmoid tumors | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| 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 |
| HP:0003011 | Abnormality of the musculature | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0004298 | Abnormality of the abdominal wall | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0010935 | Abnormality of the upper urinary tract | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200008 | Intestinal polyposis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003011 | Abnormality of the musculature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100806 | Sepsis | MP:0011708 | decreased fibroblast cell migration | reduced frequency of or less rapid fibroblast cell migration that is accomplished by extension and retraction of a fibroblast pseudopodium |
| HP:0002797 | Osteolysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004298 | Abnormality of the abdominal wall | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010614 | Fibroma | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0010935 | Abnormality of the upper urinary tract | MP:0013389 | Meibomian gland hypoplasia | underdevelopment or reduced size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate, usually due to a reduced number of cells |
| HP:0100245 | Desmoid tumors | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001482 | Subcutaneous nodule | MP:0013542 | abnormal submandibular gland branching morphogenesis | |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007703 | Abnormality of retinal pigmentation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 552 |
|---|---|
| Disease | desmoid tumor |
| Case | (Waiting for update.) |