{"Name":"Immunodeficiency due to a late component of complement deficiency","DiseaseID__c":"GARD:0017050","id":17050,"encodedName":"immunodeficiency-due-to-a-late-component-of-complement-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency due to a late component of complement deficiency","Xref_IDs__c":"C0398765; MEDGEN:585067; MONDO:0015700; ORPHA:169150","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":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0015700","Disease_Description__c":"A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection.","GARD_Name__c":"Immunodeficiency due to a late component of complement deficiency","GARD_Synonym__c":"deficiency of complement of terminal pathway; immunodeficiency due to a c5 to c9 component complement deficiency; immunodeficiency due to c5 to c9 component complement deficiency; terminal complement pathway deficiency; terminal component deficiency","Curated_Disease_Description_Source__c":"ORPHA:169150","Curated_Disease_Description__c":"Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to recurrent meningococcal infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:169150","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015700","ORPHANET_ID__c":"ORPHA:169150","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia por deficiencia de un componente tardío del complemento","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia por deficiencia de un componente tardío del complemento","Spanish_GARD_Synonym__c":"deficiencia en la vía terminal del complemento; inmunodeficiencia por deficiencia de los componentes c5 a c9 del complemento","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 a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to recurrent meningococcal infections.","Curated_Disease_Description_Source__c":"ORPHA:169150","GARD_Synonym__c":"deficiency of complement of terminal pathway; immunodeficiency due to a c5 to c9 component complement deficiency; immunodeficiency due to c5 to c9 component complement deficiency; terminal complement pathway deficiency; terminal component deficiency","Name":"Immunodeficiency due to a late component of complement deficiency","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://www.orpha.net/en/disease/detail/169150","Source__c":"C0398765; MONDO:0015700; ORPHA:169150","Xref__c":"ORPHA:169150"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398765","Source__c":"C0398765","Xref__c":"C0398765"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=585067","Source__c":"C0398765","Xref__c":"MEDGEN:585067"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015700","Source__c":"GARD:0017050","Xref__c":"MONDO:0015700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234608003","Source__c":"C0398765","Xref__c":"234608003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C8A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c8a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C8B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c8b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C8G","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["deficiency of complement of terminal pathway"," immunodeficiency due to a c5 to c9 component complement deficiency"," immunodeficiency due to c5 to c9 component complement deficiency"," terminal complement pathway deficiency"," terminal component deficiency"]}