{"Name":"Hyper-IgM syndrome type 5","DiseaseID__c":"GARD:0010581","id":10581,"encodedName":"hyper-igm-syndrome-type-5","IsDeleted":false,"Disease_Name_Full__c":"Hyper-IgM syndrome type 5","Xref_IDs__c":"C1720958; DOID:0060759; MEDGEN:328420; MONDO:0011971; OMIM:608106; ORPHA:101092","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:0011971","Disease_Description__c":"Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.","GARD_Name__c":"Hyper-IgM syndrome type 5","GARD_Synonym__c":"autosomal recessive hyperimmunoglobulin m syndrome due to ung deficiency; autosomal recessive hyperimmunoglobulin m syndrome due to uracil dna glycosylase deficiency; higm5; hyper-igm immunodeficiency syndrome, type 5; hyper-igm syndrome 5; hyper-igm syndrome caused by mutation in ung; hyper-igm syndrome due to ung; hyper-igm syndrome due to ung deficiency; hyper-igm syndrome due to uracil n-glycosylase; immunodeficiency with hyper igm, type 5; ung hyper-igm syndrome","Curated_Disease_Description_Source__c":"MONDO:0011971","Curated_Disease_Description__c":"Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101092","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011971","ORPHANET_ID__c":"ORPHA:101092","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiper-igm tipo 5","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hiper-igm tipo 5","Spanish_GARD_Synonym__c":"higm5; síndrome de hiper-igm por deficiencia de ung; síndrome de hiper-igm por deficiencia de uracil n glicosilasa","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":"Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.","Curated_Disease_Description_Source__c":"MONDO:0011971","GARD_Synonym__c":"autosomal recessive hyperimmunoglobulin m syndrome due to ung deficiency; autosomal recessive hyperimmunoglobulin m syndrome due to uracil dna glycosylase deficiency; higm5; hyper-igm immunodeficiency syndrome, type 5; hyper-igm syndrome 5; hyper-igm syndrome caused by mutation in ung; hyper-igm syndrome due to ung; hyper-igm syndrome due to ung deficiency; hyper-igm syndrome due to uracil n-glycosylase; immunodeficiency with hyper igm, type 5; ung hyper-igm syndrome","Name":"Hyper-IgM syndrome type 5","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010581","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060759","Source__c":"MONDO:0011971","Xref__c":"DOID:0060759"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1720958","Source__c":"C1720958","Xref__c":"C1720958"},{"URL__c":"https://www.omim.org/entry/608106","Source__c":"C1720958; MONDO:0011971; ORPHA:101092","Xref__c":"OMIM:608106"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=328420","Source__c":"C1720958","Xref__c":"MEDGEN:328420"},{"URL__c":"https://www.orpha.net/en/disease/detail/101092","Source__c":"C1720958; MONDO:0011971; ORPHA:101092","Xref__c":"ORPHA:101092"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011971","Source__c":"GARD:0010581","Xref__c":"MONDO:0011971"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1351569004","Source__c":"C1720958","Xref__c":"1351569004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UNG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608106","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608106","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:608106","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin M in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003496","HPO_Synonym__c":"Increased IgM levels; Increased levels of IgM","HPO_Name__c":"Increased circulating IgM level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:608106","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200117","HPO_Name__c":"Recurrent upper and lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608106","HPO_Frequency__c":"Very frequent (80-99%)","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:608106","HPO_Frequency__c":"Very frequent (80-99%)","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:608106","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of inflammation of the epididymis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000031","HPO_Name__c":"Epididymitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608106","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["autosomal recessive hyperimmunoglobulin m syndrome due to ung deficiency"," autosomal recessive hyperimmunoglobulin m syndrome due to uracil dna glycosylase deficiency"," higm5"," hyper-igm immunodeficiency syndrome, type 5"," hyper-igm syndrome 5"," hyper-igm syndrome caused by mutation in ung"," hyper-igm syndrome due to ung"," hyper-igm syndrome due to ung deficiency"," hyper-igm syndrome due to uracil n-glycosylase"," immunodeficiency with hyper igm, type 5"," ung hyper-igm syndrome"]}