{"Name":"Immunodeficiency due to MASP-2 deficiency","DiseaseID__c":"GARD:0017512","id":17512,"encodedName":"immunodeficiency-due-to-masp-2-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency due to MASP-2 deficiency","Xref_IDs__c":"C3151085; C565360; MEDGEN:462435; MONDO:0013423; OMIM:613791; ORPHA:331187","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":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013423","Disease_Description__c":"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.","GARD_Name__c":"Immunodeficiency due to MASP-2 deficiency","GARD_Synonym__c":"lectin complement activation pathway, defect in, 2; masp2 deficiency","Curated_Disease_Description_Source__c":"MONDO:0013423","Curated_Disease_Description__c":"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:331187","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013423","ORPHANET_ID__c":"ORPHA:331187","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia por deficiencia de masp-2","Spanish_Description_Source__c":"ORPHA:331187","Spanish_Description__c":"La inmunodeficiencia por deficiencia de MASP-2, es una inmunodeficiencia genética poco frecuente debida a anomalías de la cascada proteica del complemento, caracterizada por niveles séricos de MASP-2 bajos, susceptibilidad variable a infecciones bacterianas (p. ej., tuberculosis pulmonar, neumonía neumocócica, abscesos cutáneos y sepsis) y enfermedades autoinmunes (p. ej. enfermedad pulmonar inflamatoria, fibrosis quística, lupus eritematoso sistémico). En muchos casos permanece asintomática.","Spanish_Disease_Name__c":"inmunodeficiencia por deficiencia de masp-2","Spanish_GARD_Synonym__c":null,"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":"Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.","Curated_Disease_Description_Source__c":"MONDO:0013423","GARD_Synonym__c":"lectin complement activation pathway, defect in, 2; masp2 deficiency","Name":"Immunodeficiency due to MASP-2 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:331187"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/331187","Source__c":"C3151085; MONDO:0013423","Xref__c":"ORPHA:331187"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462435","Source__c":"C3151085","Xref__c":"MEDGEN:462435"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565360","Source__c":"MONDO:0013423","Xref__c":"C565360"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151085","Source__c":"C3151085","Xref__c":"C3151085"},{"URL__c":"https://www.omim.org/entry/613791","Source__c":"C3151085; MONDO:0013423; ORPHA:331187","Xref__c":"OMIM:613791"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013423","Source__c":"GARD:0017512","Xref__c":"MONDO:0013423"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MASP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613791","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:613791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004431","HPO_Synonym__c":"Complement deficiency","HPO_Name__c":"Reduced circulating complement concentration","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613791","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100279","HPO_Synonym__c":"Colitis ulcerosa","HPO_Name__c":"Ulcerative colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["lectin complement activation pathway, defect in, 2"," masp2 deficiency"]}