{"Name":"Urachal cyst","DiseaseID__c":"GARD:0005425","id":5425,"encodedName":"urachal-cyst","IsDeleted":false,"Disease_Name_Full__c":"Urachal cyst","Xref_IDs__c":"17234001; C0041915; C85216; D014496; HP:0012618; MEDGEN:21770; MONDO:0018844; ORPHA:488","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018844","Disease_Description__c":"Urachal cyst is a congenital urachal anomaly (see this term) characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.","GARD_Name__c":"Urachal cyst","GARD_Synonym__c":"congenital cyst of urachus; congenital urachal cyst; urachal cyst (disease)","Curated_Disease_Description_Source__c":"GARD:0005425","Curated_Disease_Description__c":"A Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:488","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018844","ORPHANET_ID__c":"ORPHA:488","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Quiste uracal","Spanish_Description_Source__c":"ORPHA:488","Spanish_Description__c":"Es una anomalía congénita del uraco que se caracteriza por un fallo en el cierre completo del uraco, en el que ambos extremos están cerrados mientras que la luz central permanece abierta. Por lo general es asintomático, pero puede llegar a ser clínicamente significativo cuando se infecta, presentándose como una masa en la región umbilical acompañada de dolor abdominal y fiebre.","Spanish_Disease_Name__c":"quiste uracal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria.","Curated_Disease_Description_Source__c":"GARD:0005425","GARD_Synonym__c":"congenital cyst of urachus; congenital urachal cyst; urachal cyst (disease)","Name":"Urachal cyst","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:488"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:488"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C014496","Source__c":"C0041915; MONDO:0018844","Xref__c":"D014496"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85216","Source__c":"C0041915; MONDO:0018844","Xref__c":"C85216"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0041915","Source__c":"C0041915","Xref__c":"C0041915"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21770","Source__c":"C0041915","Xref__c":"MEDGEN:21770"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17234001","Source__c":"MONDO:0018844","Xref__c":"17234001"},{"URL__c":"https://www.orpha.net/en/disease/detail/488","Source__c":"C0041915; MONDO:0018844; ORPHA:488","Xref__c":"ORPHA:488"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018844","Source__c":"GARD:0005425","Xref__c":"MONDO:0018844"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012618","Source__c":"C0041915","Xref__c":"HP:0012618"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Painful or difficult urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100518","HPO_Synonym__c":"Painful or difficult urination","HPO_Name__c":"Dysuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abscess is a localized collection of purulent material surrounded by inflammation and granulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025615","HPO_Name__c":"Abscess","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032169","HPO_Synonym__c":"Unusual course of infection","HPO_Name__c":"Severe infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100525","HPO_Name__c":"Urachus fistula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002586","HPO_Synonym__c":"Inflammation of the peritoneum","HPO_Name__c":"Peritonitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal enlargement or swelling in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031500","HPO_Name__c":"Abdominal mass","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","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:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden sensation of feeling cold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025143","HPO_Synonym__c":"Chills","HPO_Name__c":"Chills","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:488","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012085","HPO_Synonym__c":"High urine neutrophil count","HPO_Name__c":"Pyuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Account":["Nephrology"],"Disease Category":["Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Nephrology","Urologist","Pediatrics"]},"synonyms":["congenital cyst of urachus"," congenital urachal cyst"," urachal cyst (disease)"]}