{"Name":"Type I complement component 8 deficiency","DiseaseID__c":"GARD:0010626","id":10626,"encodedName":"type-i-complement-component-8-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Type I complement component 8 deficiency","Xref_IDs__c":"C3151081; DOID:0060301; MEDGEN:462431; MONDO:0013422; OMIM:613790","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:0013422","Disease_Description__c":"Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.","GARD_Name__c":"Type I complement component 8 deficiency","GARD_Synonym__c":"c8 alpha-gamma deficiency; c8 deficiency, type i; c8a classic complement early component deficiency; c8ag deficiency; classic complement early component deficiency caused by mutation in c8a; complement c8 deficiency, type i","Curated_Disease_Description_Source__c":"MEDGEN:C3151081","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 kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (613789), in which only C8 beta (C8B; 120960) 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:613790","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013422","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 kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (613789), in which only C8 beta (C8B; 120960) 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:C3151081","GARD_Synonym__c":"c8 alpha-gamma deficiency; c8 deficiency, type i; c8a classic complement early component deficiency; c8ag deficiency; classic complement early component deficiency caused by mutation in c8a; complement c8 deficiency, type i","Name":"Type I 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:C3151081"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010626","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060301","Source__c":"MONDO:0013422","Xref__c":"DOID:0060301"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151081","Source__c":"C3151081","Xref__c":"C3151081"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462431","Source__c":"C3151081","Xref__c":"MEDGEN:462431"},{"URL__c":"https://www.omim.org/entry/613790","Source__c":"C3151081; MONDO:0013422","Xref__c":"OMIM:613790"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013422","Source__c":"GARD:0010626","Xref__c":"MONDO:0013422"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C8A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/c8a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613790","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:613790","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:613790","Feature__r":{"HPO_Description__c":"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002725","HPO_Synonym__c":"SLE","HPO_Name__c":"Systemic lupus erythematosus","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["c8 alpha-gamma deficiency"," c8 deficiency, type i"," c8a classic complement early component deficiency"," c8ag deficiency"," classic complement early component deficiency caused by mutation in c8a"," complement c8 deficiency, type i"]}