{"Name":"Factor I deficiency","DiseaseID__c":"GARD:0017098","id":17098,"encodedName":"factor-i-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Factor I deficiency","Xref_IDs__c":"234621005; C3463916; C572568; DOID:0050419; MEDGEN:483045; MONDO:0012594; OMIM:610984; ORPHA:200418","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:200418","Disease_Description__c":"Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by <i>Neisseria meningitidis</i>, <i>Haemophilus influenzae</i> and <i>Streptococcus pneumoniae</i>), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.","GARD_Name__c":"Factor I deficiency","GARD_Synonym__c":"c3 inactivator deficiency; cfid; complement component 3 inactivator deficiency; complement factor 3i deficiency; complement factor i deficiency; complete factor i deficiency; immunodeficiency with factor i anomaly","Curated_Disease_Description_Source__c":"ORPHA:200418","Curated_Disease_Description__c":"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. 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's tissues and organs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:200418","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012594","ORPHANET_ID__c":"ORPHA:200418","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia con anomalía del factor i","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia con anomalía del factor i","Spanish_GARD_Synonym__c":"deficiencia completa del factor i","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":"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. 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's tissues and organs.","Curated_Disease_Description_Source__c":"ORPHA:200418","GARD_Synonym__c":"c3 inactivator deficiency; cfid; complement component 3 inactivator deficiency; complement factor 3i deficiency; complement factor i deficiency; complete factor i deficiency; immunodeficiency with factor i anomaly","Name":"Factor I deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:200418"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:200418"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:200418"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1425","Source__c":"Gene Review","Xref__c":"NBK1425"},{"URL__c":"https://www.orpha.net/en/disease/detail/200418","Source__c":"C3463916; MONDO:0012594","Xref__c":"ORPHA:200418"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=483045","Source__c":"C3463916","Xref__c":"MEDGEN:483045"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C572568","Source__c":"MONDO:0012594","Xref__c":"C572568"},{"URL__c":"https://www.omim.org/entry/610984","Source__c":"C3463916; MONDO:0012594; ORPHA:200418","Xref__c":"OMIM:610984"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3463916","Source__c":"C3463916","Xref__c":"C3463916"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050419","Source__c":"MONDO:0012594","Xref__c":"DOID:0050419"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012594","Source__c":"GARD:0017098","Xref__c":"MONDO:0012594"},{"URL__c":"https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency","Source__c":"GARD:0017098","Xref__c":"https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234621005","Source__c":"C3463916","Xref__c":"234621005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CFI","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cfi","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component factor I in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005356","HPO_Synonym__c":"Decreased serum complement factor I","HPO_Name__c":"Decreased circulating complement factor I concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component factor B in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005416","HPO_Synonym__c":"Decreased serum complement factor B; Decreased serum factor b","HPO_Name__c":"Decreased circulating complement factor B concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012330","HPO_Name__c":"Pyelonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005366","HPO_Name__c":"Recurrent streptococcus pneumoniae infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"Repeated infections of the urinary tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000010","HPO_Synonym__c":"Frequent urinary tract infections; Recurrent UTIs; Repeated bladder infections; Repeated urinary tract infections; Urinary tract infections; Urinary tract infections, recurrent","HPO_Name__c":"Recurrent urinary tract infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"Inflammation of blood vessel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002633","HPO_Synonym__c":"Angiitis; Inflammation of blood vessel","HPO_Name__c":"Vasculitis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005376","HPO_Synonym__c":"Recurrent H. influenzae infections","HPO_Name__c":"Recurrent Haemophilus influenzae infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A recurrent form of sinusitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011108","HPO_Synonym__c":"Recurrent sinus infections; Sinusitis, recurrent","HPO_Name__c":"Recurrent sinusitis","Feature_System__c":"Musculoskeletal System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","HPO_Frequency__c":"Frequent (30-79%)","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:610984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of the complement component C3 in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005421","HPO_Synonym__c":"Decreased serum C3; Decreased serum complement C3; Decreased serum complement C3 level","HPO_Name__c":"Decreased circulating complement C3 concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003095","HPO_Name__c":"Septic arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000403","HPO_Synonym__c":"Frequent otitis media; Multiple episodes of otitis media; Otitis media, recurrent; Recurrent episodes of otitis media; Recurrent middle ear infection; Susceptibility to otitis media","HPO_Name__c":"Recurrent otitis media","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006946","HPO_Name__c":"Recurrent meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610984","Feature__r":{"HPO_Description__c":"Concentration of the complement component factor H in the blood circulation below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005369","HPO_Synonym__c":"Decreased serum complement factor H","HPO_Name__c":"Decreased circulating complement factor H concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["c3 inactivator deficiency"," cfid"," complement component 3 inactivator deficiency"," complement factor 3i deficiency"," complement factor i deficiency"," complete factor i deficiency"," immunodeficiency with factor i anomaly"]}