{"Name":"Lethal arteriopathy syndrome due to fibulin-4 deficiency","DiseaseID__c":"GARD:0017432","id":17432,"encodedName":"lethal-arteriopathy-syndrome-due-to-fibulin-4-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Lethal arteriopathy syndrome due to fibulin-4 deficiency","Xref_IDs__c":"782773005; C5190604; MEDGEN:1673111; MONDO:0017818; ORPHA:314718","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:314718","Disease_Description__c":"Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.","GARD_Name__c":"Lethal arteriopathy syndrome due to fibulin-4 deficiency","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:314718","Curated_Disease_Description__c":"A rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.","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:314718","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017818","ORPHANET_ID__c":"ORPHA:314718","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de arteriopatía letal por deficiencia de fibulina-4","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de arteriopatía letal por deficiencia de fibulina-4","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98028","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, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities.","Curated_Disease_Description_Source__c":"ORPHA:314718","Name":"Lethal arteriopathy syndrome due to fibulin-4 deficiency","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":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:314718"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314718"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK54467","Source__c":"Gene Review","Xref__c":"NBK54467"},{"URL__c":"https://www.orpha.net/en/disease/detail/314718","Source__c":"C5190604; MONDO:0017818; ORPHA:314718","Xref__c":"ORPHA:314718"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1673111","Source__c":"C5190604","Xref__c":"MEDGEN:1673111"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5190604","Source__c":"C5190604","Xref__c":"C5190604"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017818","Source__c":"GARD:0017432","Xref__c":"MONDO:0017818"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782773005","Source__c":"C5190604","Xref__c":"782773005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EFEMP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/efemp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Rheumatology","Gastroenterology","Dermatology","Orthopedics","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":[""]}