{"Name":"Immunodeficiency due to a classical component pathway complement deficiency","DiseaseID__c":"GARD:0015025","id":15025,"encodedName":"immunodeficiency-due-to-a-classical-component-pathway-complement-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency due to a classical component pathway complement deficiency","Xref_IDs__c":"C0398750; MEDGEN:585054; MONDO:0015699; ORPHA:169147","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:169147","Disease_Description__c":"Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.","GARD_Name__c":"Immunodeficiency due to a classical component pathway complement deficiency","GARD_Synonym__c":"classical complement pathway abnormality; immunodeficiency due to a c1, c4, or c2 component complement deficiency; immunodeficiency due to an early component of complement deficiency; immunodeficiency due to c1, c4, or c2 component complement deficiency","Curated_Disease_Description_Source__c":"ORPHA:169147","Curated_Disease_Description__c":"Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:169147","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015699","ORPHANET_ID__c":"ORPHA:169147","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia por deficiencia de un componente de la vía clásica del complemento","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia por deficiencia de un componente de la vía clásica del complemento","Spanish_GARD_Synonym__c":"inmunodeficiencia por deficiencia de componentes precoces del complemento; inmunodeficiencia por deficiencia de los componentes c1, c4 o c2 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 classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.","Curated_Disease_Description_Source__c":"ORPHA:169147","GARD_Synonym__c":"classical complement pathway abnormality; immunodeficiency due to a c1, c4, or c2 component complement deficiency; immunodeficiency due to an early component of complement deficiency; immunodeficiency due to c1, c4, or c2 component complement deficiency","Name":"Immunodeficiency due to a classical component pathway complement deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.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/169147","Source__c":"C0398750; MONDO:0015699; ORPHA:169147","Xref__c":"ORPHA:169147"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398750","Source__c":"C0398750","Xref__c":"C0398750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=585054","Source__c":"C0398750","Xref__c":"MEDGEN:585054"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015699","Source__c":"GARD:0015025","Xref__c":"MONDO:0015699"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234593008","Source__c":"C0398750","Xref__c":"234593008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C4B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C1QC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C1QB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C4A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C1QA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C1S","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"C1R","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":["classical complement pathway abnormality"," immunodeficiency due to a c1, c4, or c2 component complement deficiency"," immunodeficiency due to an early component of complement deficiency"," immunodeficiency due to c1, c4, or c2 component complement deficiency"]}