{"Name":"CELSR1-related late-onset primary lymphedema","DiseaseID__c":"GARD:0022306","id":22306,"encodedName":"celsr1-related-late-onset-primary-lymphedema","IsDeleted":false,"Disease_Name_Full__c":"CELSR1-related late-onset primary lymphedema","Xref_IDs__c":"1222668001; C5681848; MEDGEN:1802645; MONDO:0035499; ORPHA:569816","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0035499","Disease_Description__c":"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.","GARD_Name__c":"CELSR1-related late-onset primary lymphedema","GARD_Synonym__c":"cadherin egf lag seven-pass g-type receptor 1-related late-onset primary lymphedema","Curated_Disease_Description_Source__c":"MONDO:0035499","Curated_Disease_Description__c":"A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:569816","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035499","ORPHANET_ID__c":"ORPHA:569816","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfedema primario de inicio tardío asociado al gen celsr1","Spanish_Description_Source__c":"ORPHA:569816","Spanish_Description__c":"Es un linfedema primario de origen genético poco frecuente caracterizado por linfedema de las extremidades inferiores, uni- o bilateral, de gravedad variable. El trastorno muestra una penetrancia casi completa con un inicio en la infancia o la adolescencia en las mujeres, mientras que en varones muestra una penetrancia incompleta con enfermedad de inicio tardío. La linfogammagrafía en los individuos más gravemente afectos revela anomalías linfáticas compatibles con linfangiectasia, disfunción valvular y reflujo del conducto torácico.","Spanish_Disease_Name__c":"linfedema primario de inicio tardío asociado al gen celsr1","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 rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux.","Curated_Disease_Description_Source__c":"MONDO:0035499","GARD_Synonym__c":"cadherin egf lag seven-pass g-type receptor 1-related late-onset primary lymphedema","Name":"CELSR1-related late-onset primary lymphedema","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Lymphedema Network","Website__c":"https://lymphnet.org/"}],"GARD_Disease_Tag__c":[{"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"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:569816"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:569816"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:569816"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:569816"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681848","Source__c":"C5681848","Xref__c":"C5681848"},{"URL__c":"https://www.orpha.net/en/disease/detail/569816","Source__c":"C5681848; MONDO:0035499; ORPHA:569816","Xref__c":"ORPHA:569816"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1802645","Source__c":"C5681848","Xref__c":"MEDGEN:1802645"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035499","Source__c":"GARD:0022306","Xref__c":"MONDO:0035499"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222668001","Source__c":"C5681848","Xref__c":"1222668001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CELSR1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["cadherin egf lag seven-pass g-type receptor 1-related late-onset primary lymphedema"]}