{"Name":"Complement component 5 deficiency","DiseaseID__c":"GARD:0002191","id":2191,"encodedName":"complement-component-5-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Complement component 5 deficiency","Xref_IDs__c":"C0343047; C9469; DOID:8158; MEDGEN:91003; MONDO:0012295; OMIM:609536","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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012295","Disease_Description__c":"A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.","GARD_Name__c":"Complement component 5 deficiency","GARD_Synonym__c":"c5 complement deficiency; c5 deficiency; complement 5 dysfunction; complement deficiency caused by mutation in c5","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Complement component 5 deficiency (C5D) is a condition caused by changes in a gene called C5. This condition happens when a person has two copies of the changed gene or one copy of two different changed genes. The C5 gene is located on chromosome 9q33.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:609536","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012295","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":"Complement component 5 deficiency (C5D) is a condition caused by changes in a gene called C5. This condition happens when a person has two copies of the changed gene or one copy of two different changed genes. The C5 gene is located on chromosome 9q33.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"c5 complement deficiency; c5 deficiency; complement 5 dysfunction; complement deficiency caused by mutation in c5","Name":"Complement component 5 deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002191","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0343047","Source__c":"C0343047","Xref__c":"C0343047"},{"URL__c":"https://www.omim.org/entry/609536","Source__c":"C0343047; MONDO:0012295","Xref__c":"OMIM:609536"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9469","Source__c":"C0343047; MONDO:0012295","Xref__c":"C9469"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8158","Source__c":"MONDO:0012295","Xref__c":"DOID:8158"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=91003","Source__c":"C0343047","Xref__c":"MEDGEN:91003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012295","Source__c":"GARD:0002191","Xref__c":"MONDO:0012295"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=263661007","Source__c":"C0343047","Xref__c":"263661007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"C5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:609536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component C5 in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033060","HPO_Synonym__c":"Decreased serum complement C5","HPO_Name__c":"Decreased circulating complement C5 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609536","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002041","HPO_Name__c":"Intractable diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025434","HPO_Synonym__c":"Decreased total hemolytic complement activity; Reduced CH50; Reduced circulating 50% hemolytic complement (CH50) activity; Reduced hemolytic complement activity","HPO_Name__c":"Reduced circulating CH50 activity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609536","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005381","HPO_Synonym__c":"Increased susceptibility to neisseria meningitidis infections","HPO_Name__c":"Recurrent meningococcal disease","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:609536","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"}},{"Provided_By__c":"OMIM:609536","Feature__r":{"HPO_Description__c":"Seborrheic dermatitis that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007569","HPO_Synonym__c":"Generalized seborrheic eczema","HPO_Name__c":"Generalized seborrheic dermatitis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["c5 complement deficiency"," c5 deficiency"," complement 5 dysfunction"," complement deficiency caused by mutation in c5"]}