{"Name":"SFTPC-related interstitial lung disease","DiseaseID__c":"GARD:0017744","id":17744,"encodedName":"sftpc-related-interstitial-lung-disease","IsDeleted":false,"Disease_Name_Full__c":"SFTPC-related interstitial lung disease","Xref_IDs__c":"CN294154; MEDGEN:976169; MONDO:0018603; ORPHA:440392","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"ORPHA:440392","Disease_Description__c":"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.","GARD_Name__c":"SFTPC-related interstitial lung disease","GARD_Synonym__c":"interstitial lung disease due to sp-c deficiency; interstitial lung disease due to surfactant protein c deficiency; sftpc-related ild","Curated_Disease_Description_Source__c":"ORPHA:440392","Curated_Disease_Description__c":"A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:440392","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018603","ORPHANET_ID__c":"ORPHA:440392","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad pulmonar intersticial por deficiencia de sp-c","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad pulmonar intersticial por deficiencia de sp-c","Spanish_GARD_Synonym__c":"enfermedad pulmonar intersticial por deficiencia de la proteína c surfactante","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 genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.","Curated_Disease_Description_Source__c":"ORPHA:440392","GARD_Synonym__c":"interstitial lung disease due to sp-c deficiency; interstitial lung disease due to surfactant protein c deficiency; sftpc-related ild","Name":"SFTPC-related interstitial lung disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Interstitial Lung Disease Foundation","Website__c":"https://child-foundation.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:440392"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:440392"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:440392"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:440392"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:440392"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/440392","Source__c":"CN294154; MONDO:0018603","Xref__c":"ORPHA:440392"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294154","Source__c":"CN294154","Xref__c":"CN294154"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=976169","Source__c":"CN294154","Xref__c":"MEDGEN:976169"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018603","Source__c":"GARD:0017744","Xref__c":"MONDO:0018603"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SFTPC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sftpc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["interstitial lung disease due to sp-c deficiency"," interstitial lung disease due to surfactant protein c deficiency"," sftpc-related ild"]}