{"Name":"Familial isolated congenital asplenia","DiseaseID__c":"GARD:0016944","id":16944,"encodedName":"familial-isolated-congenital-asplenia","IsDeleted":false,"Disease_Name_Full__c":"Familial isolated congenital asplenia","Xref_IDs__c":"726708009; C0685889; C563028; MEDGEN:151935; MONDO:0010066; OMIM:271400; ORPHA:101351","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010066","Disease_Description__c":"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.","GARD_Name__c":"Familial isolated congenital asplenia","GARD_Synonym__c":"asplenia, familial; asplenia, isolated congenital; congenital hypoplasia of spleen; congenital microsplenia; congenital small spleen; hypoplasia of spleen; hyposplenia, isolated congenital","Curated_Disease_Description_Source__c":"MONDO:0010066","Curated_Disease_Description__c":"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101351","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010066","ORPHANET_ID__c":"ORPHA:101351","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Asplenia congénita familiar aislada","Spanish_Description_Source__c":"ORPHA:101351","Spanish_Description__c":"La asplenia congénita aislada familiar es una malformación visceral no sindrómica poco frecuente y potencialmente letal, caracterizada por la ausencia de una función esplénica normal, resultando en una inmunodeficiencia primaria. Típicamente, la enfermedad se manifiesta con infecciones abrumadoras, graves y recurrentes (especialmente sepsis neumocócica) en lactantes sin otra patología médica previa. En adultos sin un historial médico de sepsis grave en la infancia, la trombocitosis puede ser el signo de presentación. La presencia de cuerpos de Howell-Jolly en frotis de sangre y la ausencia de bazo en un examen mediante ecografía abdominal, son hallazgos asociados altamente sugerentes de esta enfermedad.","Spanish_Disease_Name__c":"asplenia congénita familiar aislada","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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":"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.","Curated_Disease_Description_Source__c":"MONDO:0010066","GARD_Synonym__c":"asplenia, familial; asplenia, isolated congenital; congenital hypoplasia of spleen; congenital microsplenia; congenital small spleen; hypoplasia of spleen; hyposplenia, isolated congenital","Name":"Familial isolated congenital asplenia","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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726708009","Source__c":"MONDO:0010066","Xref__c":"726708009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0685889","Source__c":"C0685889","Xref__c":"C0685889"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563028","Source__c":"MONDO:0010066","Xref__c":"C563028"},{"URL__c":"https://www.omim.org/entry/271400","Source__c":"C0685889; MONDO:0010066; ORPHA:101351","Xref__c":"OMIM:271400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=151935","Source__c":"C0685889","Xref__c":"MEDGEN:151935"},{"URL__c":"https://www.orpha.net/en/disease/detail/101351","Source__c":"C0685889; MONDO:0010066","Xref__c":"ORPHA:101351"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=93292008","Source__c":"C0685889","Xref__c":"93292008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205735005","Source__c":"C0685889","Xref__c":"205735005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010066","Source__c":"GARD:0016944","Xref__c":"MONDO:0010066"},{"URL__c":"https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia","Source__c":"GARD:0016944","Xref__c":"https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RPSA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rpsa","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:271400","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:271400","Feature__r":{"HPO_Description__c":"Absence (aplasia) of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001746","HPO_Synonym__c":"Absent spleen","HPO_Name__c":"Asplenia","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:271400","Feature__r":{"HPO_Description__c":"Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032550","HPO_Name__c":"Howell-Jolly bodies","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Immunology","Gastroenterology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["asplenia, familial"," asplenia, isolated congenital"," congenital hypoplasia of spleen"," congenital microsplenia"," congenital small spleen"," hypoplasia of spleen"," hyposplenia, isolated congenital"]}