{"Name":"PrP systemic amyloidosis","DiseaseID__c":"GARD:0021632","id":21632,"encodedName":"prp-systemic-amyloidosis","IsDeleted":false,"Disease_Name_Full__c":"PrP systemic amyloidosis","Xref_IDs__c":"733422008; C4518776; MEDGEN:1377371; MONDO:0018339; ORPHA:397606","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018339","Disease_Description__c":"A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene <i>PRNP</i> (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.","GARD_Name__c":"PrP systemic amyloidosis","GARD_Synonym__c":"chronic diarrhea with hereditary sensory and autonomic neuropathy; chronic diarrhea with hsan; chronic diarrhoea with hereditary sensory and autonomic neuropathy; chronic diarrhoea with hsan; prion protein systemic amyloidosis; prp (prion protein) systemic amyloidosis","Curated_Disease_Description_Source__c":"MONDO:0018339","Curated_Disease_Description__c":"A rare, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:397606","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018339","ORPHANET_ID__c":"ORPHA:397606","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Amiloidosis sistémica prp","Spanish_Description_Source__c":"ORPHA:397606","Spanish_Description__c":"Es un trastorno neurológico autosómico dominante poco frecuente causado por mutaciones truncantes del gen de la proteína priónica <i>PRNP</i> (20p13), que resultan en la deposición de proteína amiloide priónica. Suele debutar en la cuarta década de vida y las manifestaciones clínicas incluyen diarrea, náuseas, insuficiencia autónoma (arreflexia, debilidad), vejiga neurogénica e infecciones urinarias.","Spanish_Disease_Name__c":"amiloidosis sistémica prp","Spanish_GARD_Synonym__c":"amiloidosis sistémica de proteína priónica; diarrea crónica con hsan; diarrea crónica con neuropatía sensitiva autonómica hereditaria; diarrea crónica con nsah","Category_Linearization__c":"ORPHA:98006","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, autosomal dominant neurological disorder due to truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. Onset is usually in the fourth decade of life and reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections.","Curated_Disease_Description_Source__c":"MONDO:0018339","GARD_Synonym__c":"chronic diarrhea with hereditary sensory and autonomic neuropathy; chronic diarrhea with hsan; chronic diarrhoea with hereditary sensory and autonomic neuropathy; chronic diarrhoea with hsan; prion protein systemic amyloidosis; prp (prion protein) systemic amyloidosis","Name":"PrP systemic amyloidosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Amyloidosis Foundation","Website__c":"https://www.amyloidosis.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:397606"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1377371","Source__c":"C4518776","Xref__c":"MEDGEN:1377371"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733422008","Source__c":"C4518776; MONDO:0018339","Xref__c":"733422008"},{"URL__c":"https://www.orpha.net/en/disease/detail/397606","Source__c":"C4518776; MONDO:0018339; ORPHA:397606","Xref__c":"ORPHA:397606"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518776","Source__c":"C4518776","Xref__c":"C4518776"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018339","Source__c":"GARD:0021632","Xref__c":"MONDO:0018339"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRNP","GHR_URL__c":"https://medlineplus.gov/genetics/gene/prnp","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Gastroenterology"],"Specialist":["Genetics","Neurology","Gastroenterology","Psychiatry"],"Account":["Peripheral Neuropathy"]},"synonyms":["chronic diarrhea with hereditary sensory and autonomic neuropathy"," chronic diarrhea with hsan"," chronic diarrhoea with hereditary sensory and autonomic neuropathy"," chronic diarrhoea with hsan"," prion protein systemic amyloidosis"," prp (prion protein) systemic amyloidosis"]}