{"Name":"Immunodeficiency due to ficolin3 deficiency","DiseaseID__c":"GARD:0017513","id":17513,"encodedName":"immunodeficiency-due-to-ficolin3-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency due to ficolin3 deficiency","Xref_IDs__c":"766705006; C3151226; MEDGEN:462576; MONDO:0013467; OMIM:613860; ORPHA:331190","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:331190","Disease_Description__c":"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.","GARD_Name__c":"Immunodeficiency due to ficolin3 deficiency","GARD_Synonym__c":"fcn3 deficiency; ficolin 3 deficiency; lectin complement activation pathway, defect in, 3","Curated_Disease_Description_Source__c":"ORPHA:331190","Curated_Disease_Description__c":"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:331190","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013467","ORPHANET_ID__c":"ORPHA:331190","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia por deficiencia de ficolina3","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia por deficiencia de ficolina3","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98004","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":"Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.","Curated_Disease_Description_Source__c":"ORPHA:331190","GARD_Synonym__c":"fcn3 deficiency; ficolin 3 deficiency; lectin complement activation pathway, defect in, 3","Name":"Immunodeficiency due to ficolin3 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:331190"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/613860","Source__c":"C3151226; MONDO:0013467; ORPHA:331190","Xref__c":"OMIM:613860"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462576","Source__c":"C3151226","Xref__c":"MEDGEN:462576"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151226","Source__c":"C3151226","Xref__c":"C3151226"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766705006","Source__c":"MONDO:0013467","Xref__c":"766705006"},{"URL__c":"https://www.orpha.net/en/disease/detail/331190","Source__c":"C3151226; MONDO:0013467","Xref__c":"ORPHA:331190"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013467","Source__c":"GARD:0017513","Xref__c":"MONDO:0013467"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FCN3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613860","Feature__r":{"HPO_Description__c":"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002783","HPO_Synonym__c":"Chronic lung infections; Lower respiratory tract infections; Recurrent chest infections","HPO_Name__c":"Recurrent lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613860","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033165","HPO_Name__c":"Necrotizing enterocolitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613860","Feature__r":{"HPO_Description__c":"An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002722","HPO_Name__c":"Recurrent abscess formation","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613860","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002726","HPO_Synonym__c":"Staphylococcus aureus infections, recurrent","HPO_Name__c":"Recurrent Staphylococcus aureus infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613860","Feature__r":{"HPO_Description__c":"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200043","HPO_Synonym__c":"Warts","HPO_Name__c":"Verrucae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["fcn3 deficiency"," ficolin 3 deficiency"," lectin complement activation pathway, defect in, 3"]}