{"Name":"Cutaneous photosensitivity-lethal colitis syndrome","DiseaseID__c":"GARD:0001633","id":1633,"encodedName":"cutaneous-photosensitivity-lethal-colitis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cutaneous photosensitivity-lethal colitis syndrome","Xref_IDs__c":"C1857449; C536224; MEDGEN:347455; MONDO:0009051; OMIM:219095; ORPHA:2881","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009051","Disease_Description__c":"A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.","GARD_Name__c":"Cutaneous photosensitivity-lethal colitis syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0009051","Curated_Disease_Description__c":"A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.","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:2881","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009051","ORPHANET_ID__c":"ORPHA:2881","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fotosensibilidad cutánea-colitis letal","Spanish_Description_Source__c":"ORPHA:2881","Spanish_Description__c":"Es una enfermedad inflamatoria intestinal poco frecuente caracterizada por fotosensibilidad cutánea temprana que se manifiesta con lesiones eritematosas y vesiculares faciales inducidas por el sol y colitis recurrente grave que conduce a diarrea intratable. No ha habido más descripciones en la literatura desde 1991.","Spanish_Disease_Name__c":"síndrome de fotosensibilidad cutánea-colitis letal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97935","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":"A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.","Curated_Disease_Description_Source__c":"MONDO:0009051","Name":"Cutaneous photosensitivity-lethal colitis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2881"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2881"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=347455","Source__c":"C1857449","Xref__c":"MEDGEN:347455"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536224","Source__c":"MONDO:0009051","Xref__c":"C536224"},{"URL__c":"https://www.orpha.net/en/disease/detail/2881","Source__c":"C1857449; MONDO:0009051","Xref__c":"ORPHA:2881"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1857449","Source__c":"C1857449","Xref__c":"C1857449"},{"URL__c":"https://www.omim.org/entry/219095","Source__c":"C1857449; MONDO:0009051; ORPHA:2881","Xref__c":"OMIM:219095"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009051","Source__c":"GARD:0001633","Xref__c":"MONDO:0009051"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:219095","Feature__r":{"HPO_Description__c":"Photosensitivity of the skin occurring early in life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007396","HPO_Synonym__c":"Sun sensitivity occurring early in life","HPO_Name__c":"Early cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219095","Feature__r":{"HPO_Description__c":"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002583","HPO_Name__c":"Colitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219095","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:219095","Feature__r":{"HPO_Description__c":"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010783","HPO_Synonym__c":"Redness of skin or mucous membrane","HPO_Name__c":"Erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Gastroenterology"],"Specialist":["Gastroenterology","Pediatrics"]},"synonyms":[""]}