{"Name":"Familial chilblain lupus","DiseaseID__c":"GARD:0017874","id":17874,"encodedName":"familial-chilblain-lupus","IsDeleted":false,"Disease_Name_Full__c":"Familial chilblain lupus","Xref_IDs__c":"C5688224; MEDGEN:1807766; MONDO:0018827; OMIMPS:610448; ORPHA:481662","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018827","Disease_Description__c":"An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Familial chilblain lupus","GARD_Synonym__c":"chbl; familial chilblain lupus erythematosus; hereditary chilblain lupus","Curated_Disease_Description_Source__c":"ORPHA:481662","Curated_Disease_Description__c":"A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:481662","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018827","ORPHANET_ID__c":"ORPHA:481662","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lupus pernio familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"lupus pernio familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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 monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.","Curated_Disease_Description_Source__c":"ORPHA:481662","GARD_Synonym__c":"chbl; familial chilblain lupus erythematosus; hereditary chilblain lupus","Name":"Familial chilblain lupus","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lupus Foundation of America","Website__c":"https://www.lupus.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":"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":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"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:481662"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:481662"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5688224","Source__c":"C5688224","Xref__c":"C5688224"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1807766","Source__c":"C5688224","Xref__c":"MEDGEN:1807766"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS610448","Source__c":"MONDO:0018827","Xref__c":"OMIMPS:610448"},{"URL__c":"https://www.orpha.net/en/disease/detail/481662","Source__c":"C5688224; MONDO:0018827; ORPHA:481662","Xref__c":"ORPHA:481662"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018827","Source__c":"GARD:0017874","Xref__c":"MONDO:0018827"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1220590003","Source__c":"C5688224","Xref__c":"1220590003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SAMHD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/samhd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TREX1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/trex1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"STING1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sting1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Dermatology"],"Specialist":["Genetics","Neurology","Rheumatology","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["chbl"," familial chilblain lupus erythematosus"," hereditary chilblain lupus"]}