{"Name":"Familial pancreatic carcinoma","DiseaseID__c":"GARD:0004206","id":4206,"encodedName":"familial-pancreatic-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Familial pancreatic carcinoma","Xref_IDs__c":"715414009; C2931038; C43298; C535837; MEDGEN:419700; MONDO:0015278; ORPHA:1333","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015278","Disease_Description__c":"Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.","GARD_Name__c":"Familial pancreatic carcinoma","GARD_Synonym__c":"familial pancreatic cancer; hereditary exocrine pancreatic carcinoma; hereditary pancreatic cancer; hereditary pancreatic carcinoma","Curated_Disease_Description_Source__c":"GARD:0004206","Curated_Disease_Description__c":"Familial pancreatic cancer (FPC) is the occurrence of pancreatic cancer in two or more first-degree relatives (parent and child, or two siblings). It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family. In 60% of cases it occurs within the head of the pancreas. Symptoms of pancreatic cancer are generally non-specific and may include pain in the upper abdomen that radiates to the back; loss of appetite; significant weight loss; and jaundice due to bile duct obstruction. Pancreatic cancer often goes undetected until the advanced stages of the disease, and rapid tumor growth and metastasis are common. A specific genetic cause of FPC (in the absence of a known syndrome) has not been identified. Familial cases of pancreatic cancer due to hereditary conditions may be caused by genetic changes in any of several genes. Individuals who carry a genetic change in one of these genes are often at an increased risk of other types of cancers as well. In many cases, inheritance of a predisposition to develop FPC is autosomal dominant. In some cases, is may be multifactorial.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1333","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015278","ORPHANET_ID__c":"ORPHA:1333","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma pancreático familiar","Spanish_Description_Source__c":"ORPHA:1333","Spanish_Description__c":"El carcinoma pancreático familiar se define por la presencia de cáncer pancreático (CP) en dos o más familiares de primer grado.","Spanish_Disease_Name__c":"carcinoma pancreático familiar","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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 pancreatic cancer (FPC) is the occurrence of pancreatic cancer in two or more first-degree relatives (parent and child, or two siblings). It is sometimes referred to as FPC only when there is not a known hereditary cancer syndrome in an affected family. In 60% of cases it occurs within the head of the pancreas. Symptoms of pancreatic cancer are generally non-specific and may include pain in the upper abdomen that radiates to the back; loss of appetite; significant weight loss; and jaundice due to bile duct obstruction. Pancreatic cancer often goes undetected until the advanced stages of the disease, and rapid tumor growth and metastasis are common. A specific genetic cause of FPC (in the absence of a known syndrome) has not been identified. Familial cases of pancreatic cancer due to hereditary conditions may be caused by genetic changes in any of several genes. Individuals who carry a genetic change in one of these genes are often at an increased risk of other types of cancers as well. In many cases, inheritance of a predisposition to develop FPC is autosomal dominant. In some cases, is may be multifactorial.","Curated_Disease_Description_Source__c":"GARD:0004206","GARD_Synonym__c":"familial pancreatic cancer; hereditary exocrine pancreatic carcinoma; hereditary pancreatic cancer; hereditary pancreatic carcinoma","Name":"Familial pancreatic carcinoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Pancreatic Cancer Action Network","Website__c":"https://www.pancan.org/"},{"Account_Name__c":"National Pancreas Foundation","Website__c":"https://pancreasfoundation.org/"},{"Account_Name__c":"Pancreatic Cancer UK","Website__c":"https://www.pancreaticcancer.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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":"Pancreatic tumor","Tag_Category__c":"Account","curated_tag_name":"Pancreatic tumors"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1333"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931038"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004206","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419700","Source__c":"C2931038","Xref__c":"MEDGEN:419700"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C43298","Source__c":"C2931038; MONDO:0015278","Xref__c":"C43298"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931038","Source__c":"C2931038","Xref__c":"C2931038"},{"URL__c":"https://www.orpha.net/en/disease/detail/1333","Source__c":"C2931038; MONDO:0015278; ORPHA:1333","Xref__c":"ORPHA:1333"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715414009","Source__c":"MONDO:0015278","Xref__c":"715414009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535837","Source__c":"MONDO:0015278","Xref__c":"C535837"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015278","Source__c":"GARD:0004206","Xref__c":"MONDO:0015278"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kras","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ACVR1B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"STK11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/stk11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TP53","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SMAD4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smad4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005249","HPO_Name__c":"Functional intestinal obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Frequent (30-79%)","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:1333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001738","HPO_Synonym__c":"Inability to properly digest food due to lack of pancreatic digestive enzymes","HPO_Name__c":"Exocrine pancreatic insufficiency","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012432","HPO_Synonym__c":"Chronic extreme exhaustion; Chronic fatigue","HPO_Name__c":"Chronic fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abscess of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100592","HPO_Name__c":"Peritoneal abscess","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002896","HPO_Synonym__c":"Liver cancer; Liver tumor","HPO_Name__c":"Neoplasm of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Repeated episodes of diarrhea separated by periods without diarrhea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002254","HPO_Synonym__c":"Episodic diarrhea","HPO_Name__c":"Intermittent diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant neoplasm originating from the surface ovarian epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025318","HPO_Synonym__c":"Ovarian epithelial cancer","HPO_Name__c":"Ovarian carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","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) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004389","HPO_Synonym__c":"Intestinal pseudoobstruction","HPO_Name__c":"Intestinal pseudo-obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","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"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003003","HPO_Synonym__c":"Colon cancer","HPO_Name__c":"Colon cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","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:1333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in large bile ducts outside the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012334","HPO_Name__c":"Extrahepatic cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","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:1333","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of an adenocarcinoma of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006725","HPO_Name__c":"Pancreatic adenocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1333","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Disease Category":["Cancer","Genetics","Gastroenterology"],"Cause":["Genetics"],"Account":["Pancreatic tumor"]},"synonyms":["familial pancreatic cancer"," hereditary exocrine pancreatic carcinoma"," hereditary pancreatic cancer"," hereditary pancreatic carcinoma"]}