{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0012594/OMIM:610984","label":"Complement factor I deficiency","mondoId":"MONDO:0012594","onsetQualifier":null,"recordKeys":["224288a4f426585d4506e30d1574a7938fd8a958b765beccbfc1ff10dbf79e51","24086ae77151bfebf52cc65001f188191bc6294e6fa68252ad7b2d8c0a8492d1","26ff216dac4ca36b36b1b6826fe633263514426a0766cfdddecdf31499e7755e","3ece96c10726b917f10fb55df14b6f6691c3f904c16cba61b43f1be5cc702dd1","48f0036f808f6062720b910a89abd4be0d4a6787f7d6e9652bef0fc4b1096cb5","4cf7a41a6c849d750ca4652029bba0cb0013d88d7672ea5b05714bc855c3dfd8","70a02476bd4cfbf02e3512a777f0d5e585a8be73f1e3d181009031433c5e7c7d","96547993e788a301a6a27ef17eb5048380b953a877b005f30cd327094b59763e","966a7c16785a71928f2ea38894ed0e536d3fc34dda6ef677ea443fb4c010be44","9926fd88d26df9dd011a24ca6483578c90b0e39d752dfcfb67102d8dd4e57230","a0e90e93a37338835a17b003faeabe9113edb31db4ae6d91c54ce2395e4bf4de","a6191c059d1234bd31f6c433bfec373972b1925719a5acbf552313e05d1285ac","a9ebcdcf8530e69a598e14c00e0ce45742ae20024a33ef45a2cf9b10adc5e76a","bf8ee097be89bf0246f12a044093bfe598b3345a7b1178f420aedace39394755","bfb2364cd83e11daf9e7b84debe1219288858cc27aec20c68df0ad168723eaed","c8c959bdb4ed5c97ac3698d19684178eb9518c54d199627d33da2a18450c2020","ffdf88ffeeafa5d85152c2186736798076a83404e38ff9f1b168a66d3def1b0b"],"recordQualifiers":{},"scopeLabel":"OMIM:610984","sourceIds":["OMIM:610984"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0012594/OMIM:610984"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":8,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":17,"sourceGroups":{"omim":9,"orphanet":0,"published":8}},"features":[{"hpoId":"HP:0005421","label":"Decreased circulating complement C3 concentration","primary":false},{"hpoId":"HP:0005416","label":"Decreased circulating complement factor B concentration","primary":false},{"hpoId":"HP:0005369","label":"Decreased circulating complement factor H concentration","primary":false},{"hpoId":"HP:0005356","label":"Decreased circulating complement factor I concentration","primary":false},{"hpoId":"HP:0000099","label":"Glomerulonephritis","primary":false},{"hpoId":"HP:0012330","label":"Pyelonephritis","primary":false},{"hpoId":"HP:0005376","label":"Recurrent Haemophilus influenzae infection","primary":false},{"hpoId":"HP:0006946","label":"Recurrent meningitis","primary":false},{"hpoId":"HP:0005381","label":"Recurrent Neisseria meningitidis infection","primary":false},{"hpoId":"HP:0000403","label":"Recurrent otitis media","primary":false},{"hpoId":"HP:0011108","label":"Recurrent sinusitis","primary":false},{"hpoId":"HP:0001581","label":"Recurrent skin infections","primary":false},{"hpoId":"HP:0005366","label":"Recurrent streptococcus pneumoniae infections","primary":false},{"hpoId":"HP:0000010","label":"Recurrent urinary tract infections","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0003095","label":"Septic arthritis","primary":false},{"hpoId":"HP:0002633","label":"Vasculitis","primary":false}],"ledeHtml":"Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening.","mondoId":"MONDO:0012594","records":[{"frequencyKind":"count","key":"224288a4f426585d4506e30d1574a7938fd8a958b765beccbfc1ff10dbf79e51","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0006946","is_excluded":false,"label":"Recurrent meningitis","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"24086ae77151bfebf52cc65001f188191bc6294e6fa68252ad7b2d8c0a8492d1","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005376","is_excluded":false,"label":"Recurrent Haemophilus influenzae infection","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"26ff216dac4ca36b36b1b6826fe633263514426a0766cfdddecdf31499e7755e","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0005381","is_excluded":false,"label":"Recurrent Neisseria meningitidis infection","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3ece96c10726b917f10fb55df14b6f6691c3f904c16cba61b43f1be5cc702dd1","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0011108","is_excluded":false,"label":"Recurrent sinusitis","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"48f0036f808f6062720b910a89abd4be0d4a6787f7d6e9652bef0fc4b1096cb5","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0005416","is_excluded":false,"label":"Decreased circulating complement factor B concentration","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"4cf7a41a6c849d750ca4652029bba0cb0013d88d7672ea5b05714bc855c3dfd8","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005369","is_excluded":false,"label":"Decreased circulating complement factor H concentration","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"70a02476bd4cfbf02e3512a777f0d5e585a8be73f1e3d181009031433c5e7c7d","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012330","is_excluded":false,"label":"Pyelonephritis","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"96547993e788a301a6a27ef17eb5048380b953a877b005f30cd327094b59763e","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005366","is_excluded":false,"label":"Recurrent streptococcus pneumoniae infections","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"966a7c16785a71928f2ea38894ed0e536d3fc34dda6ef677ea443fb4c010be44","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000099","is_excluded":false,"label":"Glomerulonephritis","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9926fd88d26df9dd011a24ca6483578c90b0e39d752dfcfb67102d8dd4e57230","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0000403","is_excluded":false,"label":"Recurrent otitis media","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a0e90e93a37338835a17b003faeabe9113edb31db4ae6d91c54ce2395e4bf4de","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"2/3","hpo_id":"HP:0005421","is_excluded":false,"label":"Decreased circulating complement C3 concentration","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"a6191c059d1234bd31f6c433bfec373972b1925719a5acbf552313e05d1285ac","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001581","is_excluded":false,"label":"Recurrent skin infections","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"a9ebcdcf8530e69a598e14c00e0ce45742ae20024a33ef45a2cf9b10adc5e76a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000010","is_excluded":false,"label":"Recurrent urinary tract infections","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"bf8ee097be89bf0246f12a044093bfe598b3345a7b1178f420aedace39394755","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"1/3","hpo_id":"HP:0003095","is_excluded":false,"label":"Septic arthritis","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"bfb2364cd83e11daf9e7b84debe1219288858cc27aec20c68df0ad168723eaed","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002633","is_excluded":false,"label":"Vasculitis","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c8c959bdb4ed5c97ac3698d19684178eb9518c54d199627d33da2a18450c2020","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"OMIM:610984","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"ffdf88ffeeafa5d85152c2186736798076a83404e38ff9f1b168a66d3def1b0b","raw":{"aspect":"P","body_system":"immune","disease_id":"OMIM:610984","disease_name":"Complement factor I deficiency","evidence":"PCS","frequency_raw":"3/3","hpo_id":"HP:0005356","is_excluded":false,"label":"Decreased circulating complement factor I concentration","onset_id":null,"reference":"PMID:8613545","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency\">Complement factor I deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body&#x27;s immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not attack the body&#x27;s healthy cells. Complement factor I and several related proteins protect healthy cells by preventing activation of the complement system when it is not needed.</p><p>Mutations in the CFI gene that cause complement factor I deficiency result in abnormal, nonfunctional, or absent complement factor I. The lack (deficiency) of functional complement factor I protein allows uncontrolled activation of the complement system. The unregulated activity of the complement system decreases blood levels of another complement protein called C3, reducing the immune system&#x27;s ability to fight infections. In addition, the immune system may malfunction and attack its own tissues, resulting in autoimmune disorders.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Complement factor I deficiency?"},{"bodyHtml":"<p>Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body&#x27;s tissues and organs.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"complement-factor-i-deficiency","sourceDocuments":[{"name":"Complement factor I deficiency","reviewed":"2010-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:30.344992+00:00","label":"Causes","pageSha256":"a1e2b27d945df74c417e80ab3a82a200ca87b4c66cee8a29c4de7402680d8bcf","sourceUrl":"https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Complement factor I deficiency"},"schemaVersion":1}