{"Name":"Hereditary pancreatitis","DiseaseID__c":"GARD:0006632","id":6632,"encodedName":"hereditary-pancreatitis","IsDeleted":false,"Disease_Name_Full__c":"Hereditary pancreatitis","Xref_IDs__c":"68072000; C0238339; C537262; C95436; MEDGEN:116056; MONDO:0008185; OMIM:167800; ORPHA:676","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008185","Disease_Description__c":"A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.","GARD_Name__c":"Hereditary pancreatitis","GARD_Synonym__c":"familial chronic pancreatitis; hereditary chronic pancreatitis; pctt","Curated_Disease_Description_Source__c":"GARD:0006632","Curated_Disease_Description__c":"Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls levels of blood glucose, also called blood sugar. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function. Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer. Hereditary pancreatitis progresses to recurrent acute pancreatitis with multiple episodes of acute pancreatitis that recur over a period of at least a year; the number of episodes a person experiences varies. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Chronic pancreatitis usually develops by early adulthood in affected individuals. Signs and symptoms of chronic pancreatitis include occasional or frequent abdominal pain of varying severity, flatulence, and bloating. Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood. Years of inflammation damage the pancreas, causing the formation of scar tissue (fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of developing diabetes increases with age. Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer. In affected individuals who develop pancreatic cancer, it is typically diagnosed in mid-adulthood. Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:676","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008185","ORPHANET_ID__c":"ORPHA:676","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pancreatitis crónica hereditaria autosómica dominante","Spanish_Description_Source__c":"ORPHA:676","Spanish_Description__c":"Es una enfermedad gastroenterológica poco frecuente caracterizada por pancreatitis aguda recurrente y/o pancreatitis crónica que está presente en al menos dos familiares de primer grado o en tres o más familiares de segundo grado en dos o más generaciones, para los que no se ha identificado ningún factor de predisposición. Esta forma hereditaria e infrecuente de pancreatitis se caracteriza por daño irreversible en los componentes pancreáticos, tanto exocrinos como endocrinos.","Spanish_Disease_Name__c":"pancreatitis crónica hereditaria autosómica dominante","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":"Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls levels of blood glucose, also called blood sugar. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function. Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer. Hereditary pancreatitis progresses to recurrent acute pancreatitis with multiple episodes of acute pancreatitis that recur over a period of at least a year; the number of episodes a person experiences varies. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Chronic pancreatitis usually develops by early adulthood in affected individuals. Signs and symptoms of chronic pancreatitis include occasional or frequent abdominal pain of varying severity, flatulence, and bloating. Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood. Years of inflammation damage the pancreas, causing the formation of scar tissue (fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of developing diabetes increases with age. Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer. In affected individuals who develop pancreatic cancer, it is typically diagnosed in mid-adulthood. Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy.","Curated_Disease_Description_Source__c":"GARD:0006632","GARD_Synonym__c":"familial chronic pancreatitis; hereditary chronic pancreatitis; pctt","Name":"Hereditary pancreatitis","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Pancreatitis Supporters Network","Website__c":"http://www.pancreatitis.org.uk/"},{"Account_Name__c":"National Pancreas Foundation","Website__c":"https://pancreasfoundation.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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:676"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:676"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006632","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK84399","Source__c":"Gene Review","Xref__c":"NBK84399"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK190101","Source__c":"Gene Review","Xref__c":"NBK190101"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537262","Source__c":"MONDO:0008185","Xref__c":"C537262"},{"URL__c":"https://www.omim.org/entry/167800","Source__c":"C0238339; MONDO:0008185","Xref__c":"OMIM:167800"},{"URL__c":"https://www.orpha.net/en/disease/detail/676","Source__c":"C0238339; MONDO:0008185; ORPHA:676","Xref__c":"ORPHA:676"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=116056","Source__c":"C0238339","Xref__c":"MEDGEN:116056"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0238339","Source__c":"C0238339","Xref__c":"C0238339"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=68072000","Source__c":"C0238339; MONDO:0008185","Xref__c":"68072000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C95436","Source__c":"C0238339; MONDO:0008185","Xref__c":"C95436"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008185","Source__c":"GARD:0006632","Xref__c":"MONDO:0008185"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-pancreatitis","Source__c":"GARD:0006632","Xref__c":"https://medlineplus.gov/genetics/condition/hereditary-pancreatitis"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=235956004","Source__c":"C0238339","Xref__c":"235956004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTRC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRSS2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SPINK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CFTR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cftr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PRSS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030247","HPO_Synonym__c":"Blood clot in splanchnic vein","HPO_Name__c":"Splanchnic vein thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A recurrent form of pancreatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100027","HPO_Synonym__c":"Recurring pancreas inflammation; Recurring pancreatitis","HPO_Name__c":"Recurrent pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:676","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormal calcium deposition lesions in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005213","HPO_Synonym__c":"Pancreatic calcifications","HPO_Name__c":"Pancreatic calcification","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Gastroenterology"],"Specialist":["Genetics","Endocrine","Gastroenterology","Pediatrics"]},"synonyms":["familial chronic pancreatitis"," hereditary chronic pancreatitis"," pctt"]}