{"Name":"Familial generalized lentiginosis","DiseaseID__c":"GARD:0017158","id":17158,"encodedName":"familial-generalized-lentiginosis","IsDeleted":false,"Disease_Name_Full__c":"Familial generalized lentiginosis","Xref_IDs__c":"765195000; C3492944; C573023; MEDGEN:486897; MONDO:0007891; OMIM:151001; ORPHA:231040","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007891","Disease_Description__c":"Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.","GARD_Name__c":"Familial generalized lentiginosis","GARD_Synonym__c":"familial lentigines profusa; familial multiple lentigines syndrome without systemic involvement; lentiginosis profusa; lentiginosis, diffuse; lentiginosis, generalized; lentiginosis, inherited patterned","Curated_Disease_Description_Source__c":"MONDO:0007891","Curated_Disease_Description__c":"Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:231040","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007891","ORPHANET_ID__c":"ORPHA:231040","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lentiginosis generalizada familiar","Spanish_Description_Source__c":"ORPHA:231040","Spanish_Description__c":"La lentiginosis generalizada familiar es un proceso hereditario poco frecuente de hiperpigmentación cutánea caracterizado por léntigos generalizados sin alteraciones extracutáneas asociadas. Los individuos afectos presentan múltiples máculas no elevadas de color pardo a marrón oscuro, de 0,2 a 1 cm de diámetro, localizadas en todo el cuerpo, incluyendo, en ocasiones, las palmas de las manos o plantas de los pies, pero siempre respetando la mucosa oral.","Spanish_Disease_Name__c":"lentiginosis generalizada familiar","Spanish_GARD_Synonym__c":"síndrome de lentígines múltiples familiar sin afectación sistémica","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":"Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.","Curated_Disease_Description_Source__c":"MONDO:0007891","GARD_Synonym__c":"familial lentigines profusa; familial multiple lentigines syndrome without systemic involvement; lentiginosis profusa; lentiginosis, diffuse; lentiginosis, generalized; lentiginosis, inherited patterned","Name":"Familial generalized lentiginosis","estimateUsa":""}],"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":"All ages","Provided_By__c":"ORPHA:231040"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/231040","Source__c":"C3492944; MONDO:0007891","Xref__c":"ORPHA:231040"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C573023","Source__c":"MONDO:0007891","Xref__c":"C573023"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765195000","Source__c":"MONDO:0007891","Xref__c":"765195000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=486897","Source__c":"C3492944","Xref__c":"MEDGEN:486897"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3492944","Source__c":"C3492944","Xref__c":"C3492944"},{"URL__c":"https://www.omim.org/entry/151001","Source__c":"C3492944; MONDO:0007891; ORPHA:231040","Xref__c":"OMIM:151001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007891","Source__c":"GARD:0017158","Xref__c":"MONDO:0007891"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SASH1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:151001","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["familial lentigines profusa"," familial multiple lentigines syndrome without systemic involvement"," lentiginosis profusa"," lentiginosis, diffuse"," lentiginosis, generalized"," lentiginosis, inherited patterned"]}