{"Name":"Immunodeficiency 61","DiseaseID__c":"GARD:0010007","id":10007,"encodedName":"immunodeficiency-61","IsDeleted":false,"Disease_Name_Full__c":"Immunodeficiency 61","Xref_IDs__c":"C1845903; C538057; DOID:0111999; MEDGEN:337462; MONDO:0010296; OMIM:300310; ORPHA:696945","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:300310","Disease_Description__c":"Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by {1:Keller et al., 2018}).\\n\\nFor a general phenotypic description of X-linked agammaglobulinemia, see {300755}.","GARD_Name__c":"Immunodeficiency 61","GARD_Synonym__c":"agmx2; imd61; immunodeficiency 61, x-linked recessive","Curated_Disease_Description_Source__c":"MEDGEN:C1845903","Curated_Disease_Description__c":"Immunodeficiency-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by Keller et al., 2018).For a general phenotypic description of X-linked agammaglobulinemia, see 300755.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300310","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010296","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fenotipo de inmunodeficiencia común variable ligada al cromosoma x por deficiencia de sh3kbp1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"fenotipo de inmunodeficiencia común variable ligada al cromosoma x por deficiencia de sh3kbp1","Spanish_GARD_Synonym__c":"fenotipo de idcv ligada al cromosoma x por deficiencia de sh3kbp1; fenotipo de inmunodeficiencia común variable  ligada al cromosoma x por deficiencia de la proteína 1 de unión a la cinasa del dominio sh3","Category_Linearization__c":null,"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-61 (IMD61) is an X-linked recessive primary immunodeficiency characterized by onset of recurrent infections in early childhood due to impaired antibody production. Affected individuals have normal numbers of circulating B and T cells, but B cells have an intrinsic defect in antibody production (summary by Keller et al., 2018).For a general phenotypic description of X-linked agammaglobulinemia, see 300755.","Curated_Disease_Description_Source__c":"MEDGEN:C1845903","GARD_Synonym__c":"agmx2; imd61; immunodeficiency 61, x-linked recessive","Name":"Immunodeficiency 61","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1845903"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010007","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538057","Source__c":"MONDO:0010296","Xref__c":"C538057"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845903","Source__c":"C1845903","Xref__c":"C1845903"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111999","Source__c":"MONDO:0010296","Xref__c":"DOID:0111999"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337462","Source__c":"C1845903","Xref__c":"MEDGEN:337462"},{"URL__c":"https://www.omim.org/entry/300310","Source__c":"C1845903; MONDO:0010296; ORPHA:696945","Xref__c":"OMIM:300310"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010296","Source__c":"GARD:0010007","Xref__c":"MONDO:0010296"},{"URL__c":"https://www.orpha.net/en/disease/detail/696945","Source__c":"MONDO:0010296","Xref__c":"ORPHA:696945"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SH3KBP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300310","HPO_Frequency__c":"Very frequent (80-99%)","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:300310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300310","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:300310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032138","HPO_Synonym__c":"Decreased circulating IgG4 level; Decreased IgG4 level in blood","HPO_Name__c":"Decreased circulating IgG4 concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300310","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008348","HPO_Synonym__c":"Decreased circulating IgG2 level; Decreased IgG2 level in blood; Immunoglobulin IgG2 deficiency; Reduced IgG2 levels","HPO_Name__c":"Decreased circulating IgG2 concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300310","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{},"synonyms":["agmx2"," imd61"," immunodeficiency 61, x-linked recessive"]}