{"Name":"Type II complement component 8 deficiency","DiseaseID__c":"GARD:0010625","id":10625,"encodedName":"type-ii-complement-component-8-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Type II complement component 8 deficiency","Xref_IDs__c":"C3151080; DOID:0060302; MEDGEN:462430; MONDO:0013421; OMIM:613789","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013421","Disease_Description__c":"Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B gene.","GARD_Name__c":"Type II complement component 8 deficiency","GARD_Synonym__c":"c8 beta deficiency; c8 deficiency, type ii; c8b classic complement early component deficiency; c8b deficiency; classic complement early component deficiency caused by mutation in c8b; complement c8 deficiency, type ii; complement component 8b deficiency","Curated_Disease_Description_Source__c":"MEDGEN:C3151080","Curated_Disease_Description__c":"Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two types of inherited C8 deficiency have been reported in man: type I (613790), in which only C8 alpha (C8A, 120950) and C8 gamma (C8G; 120930) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:613789","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013421","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two types of inherited C8 deficiency have been reported in man: type I (613790), in which only C8 alpha (C8A, 120950) and C8 gamma (C8G; 120930) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).","Curated_Disease_Description_Source__c":"MEDGEN:C3151080","GARD_Synonym__c":"c8 beta deficiency; c8 deficiency, type ii; c8b classic complement early component deficiency; c8b deficiency; classic complement early component deficiency caused by mutation in c8b; complement c8 deficiency, type ii; complement component 8b deficiency","Name":"Type II complement component 8 deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3151080"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010625","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/613789","Source__c":"C3151080; MONDO:0013421","Xref__c":"OMIM:613789"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462430","Source__c":"C3151080","Xref__c":"MEDGEN:462430"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060302","Source__c":"MONDO:0013421","Xref__c":"DOID:0060302"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151080","Source__c":"C3151080","Xref__c":"C3151080"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013421","Source__c":"GARD:0010625","Xref__c":"MONDO:0013421"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C8B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c8b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613789","Feature__r":{"HPO_Description__c":"Inflammation of the meninges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001287","HPO_Name__c":"Meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613789","Feature__r":{"HPO_Description__c":"Concentration of the complement component C8 in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004434","HPO_Synonym__c":"C8 deficiency; Decreased serum complement C8","HPO_Name__c":"Decreased circulating complement C8 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613789","Feature__r":{"HPO_Description__c":"Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005430","HPO_Synonym__c":"Episodes of neisserial infection; Recurrent neisseria infections","HPO_Name__c":"Recurrent Neisserial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["c8 beta deficiency"," c8 deficiency, type ii"," c8b classic complement early component deficiency"," c8b deficiency"," classic complement early component deficiency caused by mutation in c8b"," complement c8 deficiency, type ii"," complement component 8b deficiency"]}