{"Name":"Hyper-IgM syndrome type 4","DiseaseID__c":"GARD:0010580","id":10580,"encodedName":"hyper-igm-syndrome-type-4","IsDeleted":false,"Disease_Name_Full__c":"Hyper-IgM syndrome type 4","Xref_IDs__c":"C1842413; C564277; DOID:0060760; MEDGEN:330847; MONDO:0011985; OMIM:608184; ORPHA:101091","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0011985","Disease_Description__c":"A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.","GARD_Name__c":"Hyper-IgM syndrome type 4","GARD_Synonym__c":"higm4","Curated_Disease_Description_Source__c":"MONDO:0011985","Curated_Disease_Description__c":"A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101091","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011985","ORPHANET_ID__c":"ORPHA:101091","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome hiper-igm tipo 4","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome hiper-igm tipo 4","Spanish_GARD_Synonym__c":"higm4","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":"A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.","Curated_Disease_Description_Source__c":"MONDO:0011985","GARD_Synonym__c":"higm4","Name":"Hyper-IgM syndrome type 4","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hyper IgM Foundation","Website__c":"https://hyperigm.org/"},{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1842413"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564277","Source__c":"MONDO:0011985","Xref__c":"C564277"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060760","Source__c":"MONDO:0011985","Xref__c":"DOID:0060760"},{"URL__c":"https://www.omim.org/entry/608184","Source__c":"C1842413; MONDO:0011985; ORPHA:101091","Xref__c":"OMIM:608184"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330847","Source__c":"C1842413","Xref__c":"MEDGEN:330847"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842413","Source__c":"C1842413","Xref__c":"C1842413"},{"URL__c":"https://www.orpha.net/en/disease/detail/101091","Source__c":"C1842413; MONDO:0011985; ORPHA:101091","Xref__c":"ORPHA:101091"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011985","Source__c":"GARD:0010580","Xref__c":"MONDO:0011985"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001973","HPO_Synonym__c":"Idiopathic thrombocytopenia; Immune thrombocytopenia","HPO_Name__c":"Autoimmune thrombocytopenia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002788","HPO_Synonym__c":"Frequent upper respiratory infections; Frequent upper respiratory tract infections; Recurrent colds; Recurrent upper respiratory and lower respiratory infections; Recurrent upper respiratory infection; Recurrent upper respiratory infections; Recurrent URI; Upper respiratory tract infections; Upper respiratory tract infections, recurrent","HPO_Name__c":"Recurrent upper respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002849","HPO_Synonym__c":"Lymph nodes lack germinal center; Lymphoid germinal center defect","HPO_Name__c":"Absence of lymph node germinal center","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"Recurrent infection of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004798","HPO_Synonym__c":"Recurrent gastrointestinal infections; Recurrent infection of the gastrointestinal tract; Recurrent infection of the GI tract","HPO_Name__c":"Recurrent infection of the gastrointestinal tract","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"An autoimmune form of hemolytic anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001890","HPO_Synonym__c":"Autoimmune haemolytic anemia; Hemolytic anemia, autoimmune","HPO_Name__c":"Autoimmune hemolytic anemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002959","HPO_Synonym__c":"Impaired B-lymphocyte isotype switching","HPO_Name__c":"Impaired Ig class switch recombination","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608184","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["higm4"]}