{"Name":"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","DiseaseID__c":"GARD:0022313","id":22313,"encodedName":"infantile-onset-pulmonary-alveolar-proteinosis-hypogammaglobulinemia","IsDeleted":false,"Disease_Name_Full__c":"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","Xref_IDs__c":"C5680364; MEDGEN:1810375; MONDO:0035529; OMIM:618042; ORPHA:572428","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0035529","Disease_Description__c":"A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.","GARD_Name__c":"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","GARD_Synonym__c":"2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; oas1 deficiency; oas1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia; oas1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia","Curated_Disease_Description_Source__c":"MONDO:0035529","Curated_Disease_Description__c":"A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:572428","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035529","ORPHANET_ID__c":"ORPHA:572428","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Proteinosis alveolar pulmonar-hipogammaglobulinemia de inicio en el lactante","Spanish_Description_Source__c":"ORPHA:572428","Spanish_Description__c":"Es una enfermedad respiratoria de base genética poco frecuente caracterizada por proteinosis alveolar pulmonar con hipogammaglobulinemia de inicio en la lactancia. Los pacientes presentan una función respiratoria normal al nacimiento, aunque posteriormente desarrollan infecciones recurrentes, principalmente virales, e insuficiencia respiratoria progresiva, ocasionando, a menudo, el fallecimiento en la lactancia o en la primera infancia. Otros hallazgos descritos son leucocitosis y esplenomegalia.","Spanish_Disease_Name__c":"proteinosis alveolar pulmonar-hipogammaglobulinemia de inicio en el lactante","Spanish_GARD_Synonym__c":"deficiencia de oas1; proteinosis alveolar pulmonar-hipogammaglobulinemia en el lactante asociada a oas1","Category_Linearization__c":"ORPHA:97955","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 rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.","Curated_Disease_Description_Source__c":"MONDO:0035529","GARD_Synonym__c":"2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; oas1 deficiency; oas1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia; oas1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia","Name":"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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":"Infancy","Provided_By__c":"ORPHA:572428"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1810375","Source__c":"C5680364","Xref__c":"MEDGEN:1810375"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680364","Source__c":"C5680364","Xref__c":"C5680364"},{"URL__c":"https://www.orpha.net/en/disease/detail/572428","Source__c":"C5680364; MONDO:0035529; ORPHA:572428","Xref__c":"ORPHA:572428"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197476009","Source__c":"C5680364","Xref__c":"1197476009"},{"URL__c":"https://www.omim.org/entry/618042","Source__c":"ORPHA:572428","Xref__c":"OMIM:618042"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035529","Source__c":"GARD:0022313","Xref__c":"MONDO:0035529"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OAS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006517","HPO_Synonym__c":"Alveolar proteinosis; Detection of PAS-positive extracellular material in broncho-alveolar lavage; Pulmonary alveolar proteinosis","HPO_Name__c":"Intraalveolar phospholipid accumulation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618042","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:618042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia"," infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia"," oas1 deficiency"," oas1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"," oas1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia"]}