{"Name":"Lichtenstein syndrome","DiseaseID__c":"GARD:0003248","id":3248,"encodedName":"lichtenstein-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lichtenstein syndrome","Xref_IDs__c":"763668009; C1855502; C535894; MEDGEN:340889; MONDO:0009523; OMIM:246550; ORPHA:2390","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009523","Disease_Description__c":"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.","GARD_Name__c":"Lichtenstein syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0009523","Curated_Disease_Description__c":"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.","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:2390","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009523","ORPHANET_ID__c":"ORPHA:2390","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de lichtenstein","Spanish_Description_Source__c":"ORPHA:2390","Spanish_Description__c":"Es una enfermedad genética poco frecuente caracterizada por infecciones frecuentes asociadas a neutropenia y deficiencia de IgA, en combinación con osteoporosis y anomalías esqueléticas, como defecto de fusión del arco vertebral posterior, subluxación metacarpiana, sindactilia y camptodactilia. Entre los rasgos dismórficos descritos se encuentran la sinofridia, la anteversión de las fosas nasales y el pliegue palmar único. No ha habido más descripciones en la literatura desde 1972.","Spanish_Disease_Name__c":"síndrome de lichtenstein","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":"A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.","Curated_Disease_Description_Source__c":"MONDO:0009523","Name":"Lichtenstein syndrome","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":"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:2390"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2390"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763668009","Source__c":"C1855502; MONDO:0009523","Xref__c":"763668009"},{"URL__c":"https://www.orpha.net/en/disease/detail/2390","Source__c":"C1855502; MONDO:0009523; ORPHA:2390","Xref__c":"ORPHA:2390"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535894","Source__c":"MONDO:0009523","Xref__c":"C535894"},{"URL__c":"https://www.omim.org/entry/246550","Source__c":"C1855502; MONDO:0009523; ORPHA:2390","Xref__c":"OMIM:246550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=340889","Source__c":"C1855502","Xref__c":"MEDGEN:340889"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855502","Source__c":"C1855502","Xref__c":"C1855502"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009523","Source__c":"GARD:0003248","Xref__c":"MONDO:0009523"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":[""]}