{"Name":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome","DiseaseID__c":"GARD:0020448","id":20448,"encodedName":"leukonychia-totalis-acanthosis-nigricans-like-lesions-abnormal-hair-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome","Xref_IDs__c":"C4751169; MEDGEN:1654873; MONDO:0016213; ORPHA:210133","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016213","Disease_Description__c":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.","GARD_Name__c":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome","GARD_Synonym__c":"leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome","Curated_Disease_Description_Source__c":"MONDO:0016213","Curated_Disease_Description__c":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.","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:210133","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016213","ORPHANET_ID__c":"ORPHA:210133","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de leuconiquia total-lesiones tipo acantosis nigricans-cabello anómalo","Spanish_Description_Source__c":"ORPHA:210133","Spanish_Description__c":"Es un trastorno sindrómico y poco frecuente caracterizado por la asociación de una leuconiquia completa con lesiones tipo acantosis nigricans (que ocurren en el cuello, axilas y zonas del abdomen) así como con una displasia capilar que se manifiesta con un cabello seco y quebradizo y que presenta un patrón irregular de giros completos o incompletos, y una superficie irregular con surcos longitudinales en el examen con microscopía electrónica.","Spanish_Disease_Name__c":"síndrome de leuconiquia total-lesiones tipo acantosis nigricans-cabello anómalo","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":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.","Curated_Disease_Description_Source__c":"MONDO:0016213","GARD_Synonym__c":"leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome","Name":"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair 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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:210133"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:210133"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1654873","Source__c":"C4751169","Xref__c":"MEDGEN:1654873"},{"URL__c":"https://www.orpha.net/en/disease/detail/210133","Source__c":"C4751169; MONDO:0016213; ORPHA:210133","Xref__c":"ORPHA:210133"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751169","Source__c":"C4751169","Xref__c":"C4751169"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773700005","Source__c":"C4751169","Xref__c":"773700005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016213","Source__c":"GARD:0020448","Xref__c":"MONDO:0016213"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome"]}