Phenotypes associated with the disease Familial pancreatic carcinoma (ORPHA:1333):
- Pancreatic adenocarcinoma (HP:0006725): The presence of an adenocarcinoma of the pancreas. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:1333)
- Exocrine pancreatic insufficiency (HP:0001738): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1333)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1333)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1333)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1333)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1333)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1333)
- Chronic fatigue (HP:0012432): Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1333)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1333)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1333)
- Intestinal pseudo-obstruction (HP:0004389): 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. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1333)
- Functional intestinal obstruction (HP:0005249). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1333)
- Extrahepatic cholestasis (HP:0012334): Impairment of bile flow due to obstruction in large bile ducts outside the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1333)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Nausea and vomiting (HP:0002017): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Intermittent diarrhea (HP:0002254): Repeated episodes of diarrhea separated by periods without diarrhea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Melanoma (HP:0002861): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Neoplasm of the liver (HP:0002896): A tumor (abnormal growth of tissue) of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Elevated circulating hepatic transaminase concentration (HP:0002910): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Colon cancer (HP:0003003). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Ovarian carcinoma (HP:0025318): A malignant neoplasm originating from the surface ovarian epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)
- Peritoneal abscess (HP:0100592): The presence of an abscess of the peritoneum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1333)