{"Name":"Specific granule deficiency","DiseaseID__c":"GARD:0010778","id":10778,"encodedName":"specific-granule-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Specific granule deficiency","Xref_IDs__c":"234431006; 234587000; C0398593; C562873; MEDGEN:140766; MONDO:0009506; OMIMPS:245480; ORPHA:169142","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:169142","Disease_Description__c":"A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.","GARD_Name__c":"Specific granule deficiency","GARD_Synonym__c":"neutrophil lactoferrin deficiency; neutrophil-specific granule deficiency; recurrent infection due to specific granule deficiency; sgd - specific granule deficiency","Curated_Disease_Description_Source__c":"ORPHA:169142","Curated_Disease_Description__c":"A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:169142","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009506","ORPHANET_ID__c":"ORPHA:169142","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infecciones recurrentes por deficiencia de gránulos específicos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"infecciones recurrentes por deficiencia de gránulos específicos","Spanish_GARD_Synonym__c":"deficiencia de gránulos específicos de neutrófilos","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 rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails.","Curated_Disease_Description_Source__c":"ORPHA:169142","GARD_Synonym__c":"neutrophil lactoferrin deficiency; neutrophil-specific granule deficiency; recurrent infection due to specific granule deficiency; sgd - specific granule deficiency","Name":"Specific granule deficiency","estimateUsa":""}],"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":"Neonatal","Provided_By__c":"ORPHA:169142"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:169142"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0398593"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4479548"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010778","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/169142","Source__c":"C0398593; MONDO:0009506","Xref__c":"ORPHA:169142"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234587000","Source__c":"C0398593; MONDO:0009506","Xref__c":"234587000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140766","Source__c":"C0398593","Xref__c":"MEDGEN:140766"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562873","Source__c":"MONDO:0009506","Xref__c":"C562873"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS245480","Source__c":"MONDO:0009506","Xref__c":"OMIMPS:245480"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398593","Source__c":"C0398593","Xref__c":"C0398593"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234431006","Source__c":"C0398593","Xref__c":"234431006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009506","Source__c":"GARD:0010778","Xref__c":"MONDO:0009506"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CEBPE","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SMARCD2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["neutrophil lactoferrin deficiency"," neutrophil-specific granule deficiency"," recurrent infection due to specific granule deficiency"," sgd - specific granule deficiency"]}