{"Name":"Familial porphyria cutanea tarda","DiseaseID__c":"GARD:0017750","id":17750,"encodedName":"familial-porphyria-cutanea-tarda","IsDeleted":false,"Disease_Name_Full__c":"Familial porphyria cutanea tarda","Xref_IDs__c":"59229005; C0268323; MEDGEN:75669; MONDO:0008296; NBK143129; ORPHA:443062","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008296","Disease_Description__c":"An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.","GARD_Name__c":"Familial porphyria cutanea tarda","GARD_Synonym__c":"hereditary porphyria cutanea tarda; pct; pct (porphyria cutanea tarda) type ii; pct, ''familial'' type; pct, type ii; porphyria cutanea tarda type ii; porphyria cutanea tarda, susceptibility to; porphyria cutanea tarda, type ii; urod deficiency; uroporphyrinogen decarboxylase deficiency","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Familial porphyria cutanea tarda (F-PCT) is a genetic metabolic disorder. It is caused by a mutation in the UROD gene. This gene is involved in producing heme. The mutation limits how much heme is made and causes porphyrins to build up in the body, especially in the skin and liver. Not everyone with F-PCT develops symptoms. When symptoms do occur, sun exposed skin may be fragile and blister. The skin in the affected area may become infected, scar, grow excess hair, or change color. Symptoms may worsen with alcohol use, certain chemical exposures, viral infections (hepatitis C or HIV), estrogen drugs, and high iron levels. F-PCT is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:443062","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008296","ORPHANET_ID__c":"ORPHA:443062","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Porfiria cutánea tarda familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"porfiria cutánea tarda familiar","Spanish_GARD_Synonym__c":"porfiria cutánea tarda tipo ii","Category_Linearization__c":"ORPHA:68367","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 porphyria cutanea tarda (F-PCT) is a genetic metabolic disorder. It is caused by a mutation in the UROD gene. This gene is involved in producing heme. The mutation limits how much heme is made and causes porphyrins to build up in the body, especially in the skin and liver. Not everyone with F-PCT develops symptoms. When symptoms do occur, sun exposed skin may be fragile and blister. The skin in the affected area may become infected, scar, grow excess hair, or change color. Symptoms may worsen with alcohol use, certain chemical exposures, viral infections (hepatitis C or HIV), estrogen drugs, and high iron levels. F-PCT is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"hereditary porphyria cutanea tarda; pct; pct (porphyria cutanea tarda) type ii; pct, ''familial'' type; pct, type ii; porphyria cutanea tarda type ii; porphyria cutanea tarda, susceptibility to; porphyria cutanea tarda, type ii; urod deficiency; uroporphyrinogen decarboxylase deficiency","Name":"Familial porphyria cutanea tarda","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Porphyrias Association","Website__c":"https://www.porphyria.org/"},{"Account_Name__c":"American Porphyria Foundation","Website__c":"https://porphyriafoundation.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK169003","Xref__c":"NBK169003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK143129","Source__c":"Gene Review","Xref__c":"NBK143129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75669","Source__c":"C0268323","Xref__c":"MEDGEN:75669"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59229005","Source__c":"C0268323; MONDO:0008296","Xref__c":"59229005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268323","Source__c":"C0268323","Xref__c":"C0268323"},{"URL__c":"https://www.orpha.net/en/disease/detail/443062","Source__c":"C0268323; MONDO:0008296; ORPHA:443062","Xref__c":"ORPHA:443062"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008296","Source__c":"GARD:0017750","Xref__c":"MONDO:0008296"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UROD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/urod","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Gastroenterology","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Gastroenterology","Dermatology"],"Account":["Nephrology","Dermatology"]},"synonyms":["hereditary porphyria cutanea tarda"," pct"," pct (porphyria cutanea tarda) type ii"," pct, ''familial'' type"," pct, type ii"," porphyria cutanea tarda type ii"," porphyria cutanea tarda, susceptibility to"," porphyria cutanea tarda, type ii"," urod deficiency"," uroporphyrinogen decarboxylase deficiency"]}