{"Name":"Familial progressive hyper- and hypopigmentation","DiseaseID__c":"GARD:0017298","id":17298,"encodedName":"familial-progressive-hyper-and-hypopigmentation","IsDeleted":false,"Disease_Name_Full__c":"Familial progressive hyper- and hypopigmentation","Xref_IDs__c":"C4706423; MEDGEN:1643385; MONDO:0017239; ORPHA:280628","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:0017239","Disease_Description__c":"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.","GARD_Name__c":"Familial progressive hyper- and hypopigmentation","GARD_Synonym__c":"familial progressive hyper and hypopigmentation; familial progressive hyperpigmentation and hypopigmentation of skin; fphh","Curated_Disease_Description_Source__c":"MONDO:0017239","Curated_Disease_Description__c":"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.","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:280628","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017239","ORPHANET_ID__c":"ORPHA:280628","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiper- e hipopigmentación familiar progresiva","Spanish_Description_Source__c":"ORPHA:280628","Spanish_Description__c":"Es un trastorno genético y poco común de anomalías de la pigmentación de la piel, caracterizado por lesiones hiperpigmentadas progresivas, difusas, parcialmente manchadas , que se entremezclan con múltiples manchas café con leche, máculas hipopigmentadas y lentigos, localizadas en el rostro, cuello, tronco y extremidades, así como, con frecuencia, en las palmas de las manos, plantas de los pies y mucosa oral. El patrón de despigmentación puede variar desde un patrón de manchas café con leche aisladas, alternado con zonas de hipopigmentación sobre un fondo de piel con apariencia normal, hasta una apariencia moteada o ''en confeti''.","Spanish_Disease_Name__c":"hiper- e hipopigmentación familiar progresiva","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":"Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.","Curated_Disease_Description_Source__c":"MONDO:0017239","GARD_Synonym__c":"familial progressive hyper and hypopigmentation; familial progressive hyperpigmentation and hypopigmentation of skin; fphh","Name":"Familial progressive hyper- and hypopigmentation","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":"Neonatal","Provided_By__c":"ORPHA:280628"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:280628"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706423","Source__c":"C4706423","Xref__c":"C4706423"},{"URL__c":"https://www.orpha.net/en/disease/detail/280628","Source__c":"C4706423; MONDO:0017239; ORPHA:280628","Xref__c":"ORPHA:280628"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1643385","Source__c":"C4706423","Xref__c":"MEDGEN:1643385"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763368004","Source__c":"C4706423","Xref__c":"763368004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017239","Source__c":"GARD:0017298","Xref__c":"MONDO:0017239"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KITLG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["familial progressive hyper and hypopigmentation"," familial progressive hyperpigmentation and hypopigmentation of skin"," fphh"]}