{"Name":"Desmoid tumor","DiseaseID__c":"GARD:0001820","id":1820,"encodedName":"desmoid-tumor","IsDeleted":false,"Disease_Name_Full__c":"Desmoid tumor","Xref_IDs__c":"C0079218; C9182; D018222; DOID:0080366; HP:6001034; MEDGEN:38187; MONDO:0007608; OMIM:135290; ORPHA:873","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007608","Disease_Description__c":"A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.","GARD_Name__c":"Desmoid tumor","GARD_Synonym__c":"aggressive fibromatosis; deep fibromatosis; deep fibromatosis/desmoid tumor; deep fibromatosis/desmoid tumour; desmoid; desmoid fibromatosis; desmoid tumour; desmoid type fibromatosis; desmoid-type fibromatosis; invasive fibroma","Curated_Disease_Description_Source__c":"MedlinePlus Genetics","Curated_Disease_Description__c":"A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Affected individuals typically develop a single tumor, although some have multiple tumors. Desmoid tumors most often develop when people are in their 30s or 40s, although they can occur anytime between adolescence and late adulthood. Tumors that form in the abdomen or abdominal wall are called abdominal desmoid tumors, those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors, and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs. Desmoid tumors are fibrous, much like scar tissue. They are generally noncancerous (benign) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. Desmoid tumors can recur, even after they are removed. In about 20 percent of cases, the tumors shrink or disappear with minimal or no treatment (spontaneously regress). Desmoid tumors may not cause any signs or symptoms. When they do cause symptoms, the most common one is pain. The pain is often due to the tumor pressing against nearby organs, tissues, or blood vessels. Other signs and symptoms are often caused by growth of the tumor into the surrounding tissue, and they can vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints, making it difficult to move the arms or legs. Desmoid tumors can also occur in combination with other conditions. Desmoid tumors are found in 10 to 30 percent of people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of FAP are described as sporadic.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:873","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007608","ORPHANET_ID__c":"ORPHA:873","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor desmoide","Spanish_Description_Source__c":"ORPHA:873","Spanish_Description__c":"Un tumor desmoide (TD) es un tumor benigno de los tejidos blandos localmente invasivo, asociado a una alta tasa de recurrencia pero sin potencial metastásico.","Spanish_Disease_Name__c":"tumor desmoide","Spanish_GARD_Synonym__c":"fibromatosis agresiva; fibromatosis tipo desmoide","Category_Linearization__c":"ORPHA:250908","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Affected individuals typically develop a single tumor, although some have multiple tumors. Desmoid tumors most often develop when people are in their 30s or 40s, although they can occur anytime between adolescence and late adulthood. Tumors that form in the abdomen or abdominal wall are called abdominal desmoid tumors, those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors, and tumors found in other regions of the body are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most often in the shoulders, upper arms, and upper legs. Desmoid tumors are fibrous, much like scar tissue. They are generally noncancerous (benign) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue and can be very difficult to remove surgically. Desmoid tumors can recur, even after they are removed. In about 20 percent of cases, the tumors shrink or disappear with minimal or no treatment (spontaneously regress). Desmoid tumors may not cause any signs or symptoms. When they do cause symptoms, the most common one is pain. The pain is often due to the tumor pressing against nearby organs, tissues, or blood vessels. Other signs and symptoms are often caused by growth of the tumor into the surrounding tissue, and they can vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints, making it difficult to move the arms or legs. Desmoid tumors can also occur in combination with other conditions. Desmoid tumors are found in 10 to 30 percent of people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths (called polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of FAP are described as sporadic.","Curated_Disease_Description_Source__c":"MedlinePlus Genetics","GARD_Synonym__c":"aggressive fibromatosis; deep fibromatosis; deep fibromatosis/desmoid tumor; deep fibromatosis/desmoid tumour; desmoid; desmoid fibromatosis; desmoid tumour; desmoid type fibromatosis; desmoid-type fibromatosis; invasive fibroma","Name":"Desmoid tumor","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Children's Tumor Foundation","Website__c":"https://www.ctf.org/"},{"Account_Name__c":"Desmoid Tumor Research Foundation","Website__c":"https://dtrf.org/"},{"Account_Name__c":"The Limb Preservation Foundation","Website__c":"http://limbpreservation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:873"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:873"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1851124"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001820","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1345","Source__c":"Gene Review","Xref__c":"NBK1345"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080366","Source__c":"MONDO:0007608","Xref__c":"DOID:0080366"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0079218","Source__c":"C0079218","Xref__c":"C0079218"},{"URL__c":"https://www.orpha.net/en/disease/detail/873","Source__c":"C0079218; MONDO:0007608; ORPHA:873","Xref__c":"ORPHA:873"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9182","Source__c":"C0079218; MONDO:0007608","Xref__c":"C9182"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=38187","Source__c":"C0079218","Xref__c":"MEDGEN:38187"},{"URL__c":"https://www.omim.org/entry/135290","Source__c":"MONDO:0007608","Xref__c":"OMIM:135290"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47284001","Source__c":"C0079218","Xref__c":"47284001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018222","Source__c":"C0079218; MONDO:0007608","Xref__c":"D018222"},{"URL__c":"https://hpo.jax.org/browse/term/HP:6001034","Source__c":"C0079218","Xref__c":"HP:6001034"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007608","Source__c":"GARD:0001820","Xref__c":"MONDO:0007608"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725049005","Source__c":"C0079218","Xref__c":"725049005"},{"URL__c":"https://medlineplus.gov/genetics/condition/desmoid-tumor","Source__c":"GARD:0001820","Xref__c":"https://medlineplus.gov/genetics/condition/desmoid-tumor"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/apc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe distention of the kidney with dilation of the renal pelvis and calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000126","HPO_Name__c":"Hydronephrosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of any abnormality affecting the abdominal wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004298","HPO_Synonym__c":"Abnormality of external features of the abdomen; Abnormality of the abdominal wall","HPO_Name__c":"Abnormal abdominal wall morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005214","HPO_Synonym__c":"Bowel obstruction; Intestinal blockage; Intestinal obstruction","HPO_Name__c":"Intestinal obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100245","HPO_Synonym__c":"Desmoid tumors","HPO_Name__c":"Gastrointestinal desmoid tumor","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200008","HPO_Synonym__c":"Multiple intestinal polyps","HPO_Name__c":"Intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \\\"fibroblastic\\\" or \\\"fibromatous\\\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010614","HPO_Name__c":"Fibroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the upper urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010935","HPO_Synonym__c":"Abnormality of the upper urinary tract","HPO_Name__c":"Abnormality of the upper urinary tract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:873","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality originating in one or more muscles, i.e., of the set of muscles of body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003011","HPO_Synonym__c":"Muscular abnormality","HPO_Name__c":"Abnormality of the musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["aggressive fibromatosis"," deep fibromatosis"," deep fibromatosis/desmoid tumor"," deep fibromatosis/desmoid tumour"," desmoid"," desmoid fibromatosis"," desmoid tumour"," desmoid type fibromatosis"," desmoid-type fibromatosis"," invasive fibroma"],"spanishId":13698,"spanishName":"tumores-desmoides"}