{"Name":"X-linked erythropoietic protoporphyria","DiseaseID__c":"GARD:0017755","id":17755,"encodedName":"x-linked-erythropoietic-protoporphyria","IsDeleted":false,"Disease_Name_Full__c":"X-linked erythropoietic protoporphyria","Xref_IDs__c":"C172807; C2677889; C567464; MEDGEN:394385; MONDO:0010420; OMIM:300752; ORPHA:443197","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010420","Disease_Description__c":"X-linked form of erythropoietic protoporphyria.","GARD_Name__c":"X-linked erythropoietic protoporphyria","GARD_Synonym__c":"alas2-related erythropoietic protoporphyria; erythrohepatic protoporphyria, x-linked; erythropoietic protoporphyria, x-linked; erythropoietic protoporphyria, x-linked dominant; x-linked dominant erythropoietic protoporphyria; x-linked dominant protoporphyria; x-linked protoporphyria; xldpp; xlpp","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"X-linked erythropoietic protoporphyria (XLEPP) is a rare genetic disorder. It affects the body's ability to handle sunlight. Symptoms usually start in early infancy or childhood. Males with XLEPP experience severe skin symptoms when exposed to light, especially sunlight. These symptoms include tingling, burning, and itching of the skin within minutes of light exposure. Swelling and redness of the skin may also occur. The pain can last for hours or days after light exposure. Some patients may also have liver problems and develop gallstones. Symptoms in females with XLEPP vary, with some displaying severe symptoms while others having few to none.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:443197","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010420","ORPHANET_ID__c":"ORPHA:443197","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Protoporfiria eritropoyética ligada al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"protoporfiria eritropoyética ligada al cromosoma x","Spanish_GARD_Synonym__c":"protoporfiria dominante ligada al cromosoma x; protoporfiria eritropoyética dominante ligada al cromosoma x; xldpp; xlpp","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":"X-linked erythropoietic protoporphyria (XLEPP) is a rare genetic disorder. It affects the body's ability to handle sunlight. Symptoms usually start in early infancy or childhood. Males with XLEPP experience severe skin symptoms when exposed to light, especially sunlight. These symptoms include tingling, burning, and itching of the skin within minutes of light exposure. Swelling and redness of the skin may also occur. The pain can last for hours or days after light exposure. Some patients may also have liver problems and develop gallstones. Symptoms in females with XLEPP vary, with some displaying severe symptoms while others having few to none.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"alas2-related erythropoietic protoporphyria; erythrohepatic protoporphyria, x-linked; erythropoietic protoporphyria, x-linked; erythropoietic protoporphyria, x-linked dominant; x-linked dominant erythropoietic protoporphyria; x-linked dominant protoporphyria; x-linked protoporphyria; xldpp; xlpp","Name":"X-linked erythropoietic protoporphyria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Sociedad Mexicana para Porfiria"}],"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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:443197"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK121284","Source__c":"Gene Review","Xref__c":"NBK121284"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677889","Source__c":"C2677889","Xref__c":"C2677889"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=394385","Source__c":"C2677889","Xref__c":"MEDGEN:394385"},{"URL__c":"https://www.omim.org/entry/300752","Source__c":"C2677889; MONDO:0010420; ORPHA:443197","Xref__c":"OMIM:300752"},{"URL__c":"https://www.orpha.net/en/disease/detail/443197","Source__c":"C2677889; MONDO:0010420; ORPHA:443197","Xref__c":"ORPHA:443197"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567464","Source__c":"MONDO:0010420","Xref__c":"C567464"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010420","Source__c":"GARD:0017755","Xref__c":"MONDO:0010420"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1197360001","Source__c":"C2677889","Xref__c":"1197360001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C172807","Source__c":"C2677889","Xref__c":"C172807"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ALAS2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/alas2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300752","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300752","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300752","Feature__r":{"HPO_Description__c":"Concentration of protoporphyrins in erythrocytes above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012187","HPO_Name__c":"Increased erythrocyte protoporphyrin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:300752","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300752","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Dermatology","Pediatrics"],"Account":["Nephrology","Dermatology"]},"synonyms":["alas2-related erythropoietic protoporphyria"," erythrohepatic protoporphyria, x-linked"," erythropoietic protoporphyria, x-linked"," erythropoietic protoporphyria, x-linked dominant"," x-linked dominant erythropoietic protoporphyria"," x-linked dominant protoporphyria"," x-linked protoporphyria"," xldpp"," xlpp"]}