{"Name":"Congenital Epstein-Barr virus infection","DiseaseID__c":"GARD:0018903","id":18903,"encodedName":"congenital-epstein-barr-virus-infection","IsDeleted":false,"Disease_Name_Full__c":"Congenital Epstein-Barr virus infection","Xref_IDs__c":"716660007; C4274357; MEDGEN:908580; MONDO:0019094; ORPHA:70596","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019094","Disease_Description__c":"A rare infectious disease that causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection.","GARD_Name__c":"Congenital Epstein-Barr virus infection","GARD_Synonym__c":"antenatal ebv infection; antenatal epstein-barr virus infection; congenital ebv infection; congenital infection caused by epstein-barr virus; congenital infection caused by human herpesvirus 4; mother-to-child transmission of epstein-barr virus infection","Curated_Disease_Description_Source__c":"ORPHA:70596","Curated_Disease_Description__c":"A rare infectious disease that causes no clinical manifestations in the majority of infants. Rarely, it has been reported to present after birth with multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas, and multiple areas of metaphysitis of the long bones. Low birth weight may also be reported.","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:70596","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019094","ORPHANET_ID__c":"ORPHA:70596","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infección congénita por el virus de epstein-barr","Spanish_Description_Source__c":"ORPHA:70596","Spanish_Description__c":"Es una enfermedad infecciosa poco frecuente que no presenta manifestaciones clínicas en la mayoría de los lactantes. De hecho, la aparición de una infección congénita por EBV nunca se ha demostrado de manera concluyente y debe ser muy poco frecuente. Hasta la fecha, se ha descrito un único caso que presentaba anomalías congénitas múltiples (micrognatia, criptorquidia, cataratas centrales), distrofia, hipotonía generalizada, hepatoesplenomegalia, petequias difusas y hematomas, y múltiples áreas de metafisitis en los huesos largos al nacimiento. También se ha descrito bajo peso al nacer. No hay ningún procedimiento específico de seguimiento del feto después de la infección primaria por EBV materno.","Spanish_Disease_Name__c":"infección congénita por el virus de epstein-barr","Spanish_GARD_Synonym__c":"infección congénita por ebv; infección prenatal por ebv; infección prenatal por el virus de epstein-barr; transmisión materna de la infección por el virus epstein-barr","Category_Linearization__c":"ORPHA:68416","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 infectious disease that causes no clinical manifestations in the majority of infants. Rarely, it has been reported to present after birth with multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas, and multiple areas of metaphysitis of the long bones. Low birth weight may also be reported.","Curated_Disease_Description_Source__c":"ORPHA:70596","GARD_Synonym__c":"antenatal ebv infection; antenatal epstein-barr virus infection; congenital ebv infection; congenital infection caused by epstein-barr virus; congenital infection caused by human herpesvirus 4; mother-to-child transmission of epstein-barr virus infection","Name":"Congenital Epstein-Barr virus infection","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Infectious Disease","Tag_Category__c":"Disease Category;Specialist","category_description":"Infectious diseases are caused by bacteria, viruses, fungi, or parasites entering the body, multiplying, and spreading illness.","curated_tag_name":"Infectious 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":"Infectious Embryofetopathy","Tag_Category__c":"Cause","curated_tag_name":"Congenital Infectious Diseases"},{"Tag_Name__c":"Rare Viral Disease","Tag_Category__c":"Cause","curated_tag_name":"Viral Infectious Diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:70596"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:70596"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=908580","Source__c":"C4274357","Xref__c":"MEDGEN:908580"},{"URL__c":"https://www.orpha.net/en/disease/detail/70596","Source__c":"C4274357; MONDO:0019094; ORPHA:70596","Xref__c":"ORPHA:70596"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716660007","Source__c":"C4274357; MONDO:0019094","Xref__c":"716660007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274357","Source__c":"C4274357","Xref__c":"C4274357"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019094","Source__c":"GARD:0018903","Xref__c":"MONDO:0019094"}],"tags":{"Disease Category":["Infectious Disease","Congenital Abnormality"],"Specialist":["Infectious Disease","Pediatrics"],"Cause":["Infectious Embryofetopathy","Rare Viral Disease"]},"synonyms":["antenatal ebv infection"," antenatal epstein-barr virus infection"," congenital ebv infection"," congenital infection caused by epstein-barr virus"," congenital infection caused by human herpesvirus 4"," mother-to-child transmission of epstein-barr virus infection"]}