{"Name":"Siegler-Brewer-Carey syndrome","DiseaseID__c":"GARD:0004867","id":4867,"encodedName":"siegler-brewer-carey-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Siegler-Brewer-Carey syndrome","Xref_IDs__c":"721076000; C2931473; C537335; MEDGEN:419088; MONDO:0017849; ORPHA:3167","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017849","Disease_Description__c":"A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.","GARD_Name__c":"Siegler-Brewer-Carey syndrome","GARD_Synonym__c":"siegler brewer carey syndrome","Curated_Disease_Description_Source__c":"MONDO:0017849","Curated_Disease_Description__c":"A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.","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:3167","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017849","ORPHANET_ID__c":"ORPHA:3167","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de siegler-brewer-carey","Spanish_Description_Source__c":"ORPHA:3167","Spanish_Description__c":"Es una enfermedad respiratoria sindrómica poco frecuente, de origen genético, caracterizada por la presencia de cataratas, otitis media, malabsorción intestinal, infecciones respiratorias crónicas y fallo de medro. También se observa neumonía recurrente y azotemia progresiva, que evoluciona a enfermedad renal terminal y muerte prematura. No ha habido más descripciones en la literatura desde 1992.","Spanish_Disease_Name__c":"síndrome de siegler-brewer-carey","Spanish_GARD_Synonym__c":null,"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, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992.","Curated_Disease_Description_Source__c":"MONDO:0017849","GARD_Synonym__c":"siegler brewer carey syndrome","Name":"Siegler-Brewer-Carey 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":"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3167"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3167"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537335","Source__c":"MONDO:0017849","Xref__c":"C537335"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721076000","Source__c":"C2931473; MONDO:0017849","Xref__c":"721076000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419088","Source__c":"C2931473","Xref__c":"MEDGEN:419088"},{"URL__c":"https://www.orpha.net/en/disease/detail/3167","Source__c":"C2931473; MONDO:0017849; ORPHA:3167","Xref__c":"ORPHA:3167"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931473","Source__c":"C2931473","Xref__c":"C2931473"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017849","Source__c":"GARD:0004867","Xref__c":"MONDO:0017849"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Ophthalmology","Anterior segment of Eye","Pediatrics"]},"synonyms":["siegler brewer carey syndrome"]}