{"Name":"Microcystic lymphatic malformation","DiseaseID__c":"GARD:0013020","id":13020,"encodedName":"microcystic-lymphatic-malformation","IsDeleted":false,"Disease_Name_Full__c":"Microcystic lymphatic malformation","Xref_IDs__c":"C45485; C4738056; MEDGEN:1843242; MONDO:0019329; ORPHA:79490","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0013020","Disease_Description__c":"Microcystic lymphatic malformation is one subtype of lymphatic malformation (LM), a congenital malformation of the lymphatic vessels in soft tissues, including the skin. LM is classified into the macrocystic type, cysts larger than 2 cm with clear margins (previously known as cystic hygromas), and the microcystic type, consisting of cysts smaller than 2 cm, that appear diffuse, and grow without clear borders (previously known as lymphangioma circumscriptum). When the two types concur it is called the combined type. Microcystic lesions are commonly found inside the mouth, throat, and in the tongue, parotid gland and submandibular gland. Symptoms include deformity, and problems with breathing and feeding. The exact cause is unknown but is likely related to a malformation of the lymphatic system at six to ten weeks of gestation, when some lymphatic tissue fails to communicate with the lymphatic and venous system.","GARD_Name__c":"Microcystic lymphatic malformation","GARD_Synonym__c":"capillary lymphatic malformation; cutaneous lymphangioma circumscriptum; microcystic infiltrating lymphatic malformation; microcystic lymphangioma; superficial lymphangioma; superficial lymphatic malformation","Curated_Disease_Description_Source__c":"GARD:0013020","Curated_Disease_Description__c":"A rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.","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:79490","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019329","ORPHANET_ID__c":"ORPHA:79490","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación linfática microquística","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"malformación linfática microquística","Spanish_GARD_Synonym__c":"linfangioma capilar; linfangioma cutáneo circunscrito; linfangioma microquístico; linfangioma superficial; malformacion linfática microquística infiltrante; malformación linfática capilar; malformación linfática superficial","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 rare common cystic lymphatic malformation characterized by a benign cystic lesion composed of dilated lymphatic channels. Microcystic lesions consist of cysts smaller than 1 cm in diameter. They usually present at birth or during the first years of life and most often occur in the head and neck region but may affect any site. Symptoms depend on the location and extent of the lesion. Infection, trauma, or intracystic hemorrhage can lead to lesional expansion. Malignant transformation does not occur.","Curated_Disease_Description_Source__c":"GARD:0013020","GARD_Synonym__c":"capillary lymphatic malformation; cutaneous lymphangioma circumscriptum; microcystic infiltrating lymphatic malformation; microcystic lymphangioma; superficial lymphangioma; superficial lymphatic malformation","Name":"Microcystic lymphatic malformation","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic 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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79490"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79490"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4738056","Source__c":"C4738056","Xref__c":"C4738056"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1843242","Source__c":"C4738056","Xref__c":"MEDGEN:1843242"},{"URL__c":"https://www.orpha.net/en/disease/detail/79490","Source__c":"C4738056; MONDO:0019329; ORPHA:79490","Xref__c":"ORPHA:79490"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019329","Source__c":"GARD:0013020","Xref__c":"MONDO:0019329"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C45485","Source__c":"MONDO:0019329","Xref__c":"C45485"}],"tags":{"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"],"Specialist":["Genetics","Otolaryngology","Vascular Medicine","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["capillary lymphatic malformation"," cutaneous lymphangioma circumscriptum"," microcystic infiltrating lymphatic malformation"," microcystic lymphangioma"," superficial lymphangioma"," superficial lymphatic malformation"]}