{"Name":"EMILIN-1-related connective tissue disease","DiseaseID__c":"GARD:0021994","id":21994,"encodedName":"emilin-1-related-connective-tissue-disease","IsDeleted":false,"Disease_Name_Full__c":"EMILIN-1-related connective tissue disease","Xref_IDs__c":"1237511005; C5681244; MEDGEN:1814474; MONDO:0044622; ORPHA:485418","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:485418","Disease_Description__c":"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.","GARD_Name__c":"EMILIN-1-related connective tissue disease","GARD_Synonym__c":"elastin microfibril interfacer 1 related connective tissue disease","Curated_Disease_Description_Source__c":"ORPHA:485418","Curated_Disease_Description__c":"A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:485418","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0044622","ORPHANET_ID__c":"ORPHA:485418","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad del tejido conectivo asociada al gen emilin-1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad del tejido conectivo asociada al gen emilin-1","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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 hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.","Curated_Disease_Description_Source__c":"ORPHA:485418","GARD_Synonym__c":"elastin microfibril interfacer 1 related connective tissue disease","Name":"EMILIN-1-related connective tissue disease","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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:485418"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814474","Source__c":"C5681244","Xref__c":"MEDGEN:1814474"},{"URL__c":"https://www.orpha.net/en/disease/detail/485418","Source__c":"C5681244; MONDO:0044622; ORPHA:485418","Xref__c":"ORPHA:485418"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681244","Source__c":"C5681244","Xref__c":"C5681244"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237511005","Source__c":"C5681244","Xref__c":"1237511005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044622","Source__c":"GARD:0021994","Xref__c":"MONDO:0044622"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EMILIN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["elastin microfibril interfacer 1 related connective tissue disease"]}