{"Name":"X-linked severe congenital neutropenia","DiseaseID__c":"GARD:0003981","id":3981,"encodedName":"x-linked-severe-congenital-neutropenia","IsDeleted":false,"Disease_Name_Full__c":"X-linked severe congenital neutropenia","Xref_IDs__c":"718882006; C176818; C1845987; C564539; DOID:0112128; MEDGEN:335314; MONDO:0010294; OMIM:300299; ORPHA:86788","USA_Estimate__c":"1,000","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":"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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010294","Disease_Description__c":"This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.","GARD_Name__c":"X-linked severe congenital neutropenia","GARD_Synonym__c":"neutropenia, severe congenital, x-linked, x-linked recessive; scnx; severe congenital neutropenia, x-linked","Curated_Disease_Description_Source__c":"MONDO:0010294","Curated_Disease_Description__c":"This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:86788","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010294","ORPHANET_ID__c":"ORPHA:86788","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neutropenia congénita grave ligada al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neutropenia congénita grave ligada al cromosoma x","Spanish_GARD_Synonym__c":null,"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":"This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.","Curated_Disease_Description_Source__c":"MONDO:0010294","GARD_Synonym__c":"neutropenia, severe congenital, x-linked, x-linked recessive; scnx; severe congenital neutropenia, x-linked","Name":"X-linked severe congenital neutropenia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Neutropenia Network","Website__c":"https://neutropenianet.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:86788"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:86788"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1845987"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003981","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1178","Source__c":"Gene Review","Xref__c":"NBK1178"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845987","Source__c":"C1845987","Xref__c":"C1845987"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335314","Source__c":"C1845987","Xref__c":"MEDGEN:335314"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564539","Source__c":"MONDO:0010294","Xref__c":"C564539"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718882006","Source__c":"C1845987; MONDO:0010294","Xref__c":"718882006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112128","Source__c":"MONDO:0010294","Xref__c":"DOID:0112128"},{"URL__c":"https://www.omim.org/entry/300299","Source__c":"C1845987; MONDO:0010294; ORPHA:86788","Xref__c":"OMIM:300299"},{"URL__c":"https://www.orpha.net/en/disease/detail/86788","Source__c":"C1845987; MONDO:0010294; ORPHA:86788","Xref__c":"ORPHA:86788"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C176818","Source__c":"C1845987","Xref__c":"C176818"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010294","Source__c":"GARD:0003981","Xref__c":"MONDO:0010294"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/was","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86788","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86788","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":"ORPHA:86788","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012312","HPO_Synonym__c":"Low blood monocyte number; Monocytopenia","HPO_Name__c":"Decreased total monocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["neutropenia, severe congenital, x-linked, x-linked recessive"," scnx"," severe congenital neutropenia, x-linked"]}