{"Name":"Properdin deficiency, X-linked","DiseaseID__c":"GARD:0004513","id":4513,"encodedName":"properdin-deficiency-x-linked","IsDeleted":false,"Disease_Name_Full__c":"Properdin deficiency, X-linked","Xref_IDs__c":"81166004; C1839454; C537241; DOID:0111768; MEDGEN:333322; MONDO:0010713; OMIM:312060; ORPHA:2966","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010713","Disease_Description__c":"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.","GARD_Name__c":"Properdin deficiency, X-linked","GARD_Synonym__c":"cfpd; complement factor properdin deficiency; properdin deficiency; properdin deficiency, type 1; properdin deficiency, type i; properdin deficiency, x-linked, x-linked recessive; properdin p factor deficiency","Curated_Disease_Description_Source__c":"MONDO:0010713","Curated_Disease_Description__c":"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:2966","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010713","ORPHANET_ID__c":"ORPHA:2966","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de properdina","Spanish_Description_Source__c":"ORPHA:2966","Spanish_Description__c":"La deficiencia de properdina es una inmunodeficiencia primaria hereditaria poco frecuente debida a una anomalía de las proteínas del sistema del complemento. Está caracterizada por una susceptibilidad significativamente mayor a infecciones por especies de Neisseria. Afecta únicamente a varones, que suelen presentar enfermedad meningocócica grave o fulminante.","Spanish_Disease_Name__c":"deficiencia de properdina","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":"Properdin deficiency is a rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease.","Curated_Disease_Description_Source__c":"MONDO:0010713","GARD_Synonym__c":"cfpd; complement factor properdin deficiency; properdin deficiency; properdin deficiency, type 1; properdin deficiency, type i; properdin deficiency, x-linked, x-linked recessive; properdin p factor deficiency","Name":"Properdin deficiency, X-linked","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004513","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/2966","Source__c":"C1839454; MONDO:0010713","Xref__c":"ORPHA:2966"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839454","Source__c":"C1839454","Xref__c":"C1839454"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=333322","Source__c":"C1839454","Xref__c":"MEDGEN:333322"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=81166004","Source__c":"MONDO:0010713","Xref__c":"81166004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111768","Source__c":"MONDO:0010713","Xref__c":"DOID:0111768"},{"URL__c":"https://www.omim.org/entry/312060","Source__c":"C1839454; MONDO:0010713; ORPHA:2966","Xref__c":"OMIM:312060"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537241","Source__c":"MONDO:0010713","Xref__c":"C537241"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010713","Source__c":"GARD:0004513","Xref__c":"MONDO:0010713"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CFP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:312060","Feature__r":{"HPO_Description__c":"An abnormality of the functioning of any aspect of the alternative complement pathway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005423","HPO_Name__c":"Dysfunctional alternative complement pathway","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:312060","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["cfpd"," complement factor properdin deficiency"," properdin deficiency"," properdin deficiency, type 1"," properdin deficiency, type i"," properdin deficiency, x-linked, x-linked recessive"," properdin p factor deficiency"]}