{"Name":"EPHB4-related lymphatic-related hydrops fetalis","DiseaseID__c":"GARD:0022302","id":22302,"encodedName":"ephb4-related-lymphatic-related-hydrops-fetalis","IsDeleted":false,"Disease_Name_Full__c":"EPHB4-related lymphatic-related hydrops fetalis","Xref_IDs__c":"1222666002; C5680140; MEDGEN:1802765; MONDO:0035475; ORPHA:568065","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Description_Source__c":"MONDO:0035475","Disease_Description__c":"A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.","GARD_Name__c":"EPHB4-related lymphatic-related hydrops fetalis","GARD_Synonym__c":"ephb4-related generalised lymphatic dysplasia with atrial septal defect; ephb4-related generalised lymphatic dysplasia with non-immune hydrops fetalis; ephb4-related generalized lymphatic dysplasia with atrial septal defect; ephb4-related generalized lymphatic dysplasia with non-immune hydrops fetalis; ephb4-related lrhf/gld; ephrin receptor b4-related lymphatic-related hydrops fetalis","Curated_Disease_Description_Source__c":"MONDO:0035475","Curated_Disease_Description__c":"A rare primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:568065","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035475","ORPHANET_ID__c":"ORPHA:568065","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hidropesía fetal linfática asociada al gen ephb4","Spanish_Description_Source__c":"ORPHA:568065","Spanish_Description__c":"Es un linfedema primario poco frecuente caracterizado por un fenotipo linfático altamente variable que va desde grave hidropesía fetal linfática, que puede ocasionar el fallecimiento perinatal o remitir completamente y tornarse asintomático, hasta una presentación leve en pacientes de edad más avanzada con venas varicosas persistentes, edema periférico y alteración del drenaje linfático en las extremidades inferiores. También se ha descrito comunicación interauricular asociada al trastorno, pudiendo ser la única anomalía presente en algunos pacientes.","Spanish_Disease_Name__c":"hidropesía fetal linfática asociada al gen ephb4","Spanish_GARD_Synonym__c":"displasia linfática generalizada asociada al gen ephb4 con comunicación interauricular; displasia linfática generalizada asociada al gen ephb4 con hidropesía fetal no inmunológica","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 primary lymphedema characterized by a highly variable lymphatic phenotype ranging from severe lymphatic-related hydrops fetalis, which may cause perinatal demise or fully resolve to become completely asymptomatic, to a mild presentation in older patients with persistent varicose veins, peripheral edema, and impaired lymph drainage in the lower limbs. Atrial septal defect has been described in association and may be the only anomaly in some patients.","Curated_Disease_Description_Source__c":"MONDO:0035475","GARD_Synonym__c":"ephb4-related generalised lymphatic dysplasia with atrial septal defect; ephb4-related generalised lymphatic dysplasia with non-immune hydrops fetalis; ephb4-related generalized lymphatic dysplasia with atrial septal defect; ephb4-related generalized lymphatic dysplasia with non-immune hydrops fetalis; ephb4-related lrhf/gld; ephrin receptor b4-related lymphatic-related hydrops fetalis","Name":"EPHB4-related lymphatic-related hydrops fetalis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Cardiology","Tag_Category__c":"Specialist"},{"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":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"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":"Antenatal","Provided_By__c":"ORPHA:568065"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1802765","Source__c":"C5680140","Xref__c":"MEDGEN:1802765"},{"URL__c":"https://www.orpha.net/en/disease/detail/568065","Source__c":"C5680140; MONDO:0035475; ORPHA:568065","Xref__c":"ORPHA:568065"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680140","Source__c":"C5680140","Xref__c":"C5680140"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222666002","Source__c":"C5680140","Xref__c":"1222666002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035475","Source__c":"GARD:0022302","Xref__c":"MONDO:0035475"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPHB4","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","Cardiology","Dermatology","Congenital Heart Disease","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ephb4-related generalised lymphatic dysplasia with atrial septal defect"," ephb4-related generalised lymphatic dysplasia with non-immune hydrops fetalis"," ephb4-related generalized lymphatic dysplasia with atrial septal defect"," ephb4-related generalized lymphatic dysplasia with non-immune hydrops fetalis"," ephb4-related lrhf/gld"," ephrin receptor b4-related lymphatic-related hydrops fetalis"]}