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1.

Neoplasm of the pancreas

A tumor (abnormal growth of tissue) of the pancreas. [from HPO]

MedGen UID:
425115
Concept ID:
CN002617
Finding
2.

increased risk of pancreatic cancer

A tumor (abnormal growth of tissue) of the pancreas. [from HPO]

MedGen UID:
330845
Concept ID:
C1842408
Finding
3.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
4.

Carcinoma of pancreas

Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic Cancer Somatic mutations in pancreatic cancer occur in the KRAS (190070), CDKN2A (600160), MADH4 (600993), TP53 (191170), ARMET (601916), STK11 (602216), ACVR1B (601300), and RBBP8 (604124) genes. Susceptibility loci for pancreatic cancer include PNCA1 (606856), related to mutation in the PALLD gene on chromosome 4q32 (608092); PNCA2 (613347), related to mutation in the BRCA2 gene on chromosome 13q12 (600185); PNCA3 (613348), related to mutation in the PALB2 gene on chromosome 16p12 (610355); and PNCA4 (614320), related to mutation in the BRCA1 gene on chromosome 17q21 (113705). Occurrence of Pancreatic Cancer in Other Disorders Several familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see 120435); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (175200); the melanoma-pancreatic cancer syndrome (606719), caused by mutations in CDKN2A (600160); von Hippel-Lindau syndrome (193300), ataxia-telangiectasia (208900) (Swift et al., 1976), and juvenile polyposis syndrome (174900). Patients with hereditary pancreatitis (167800) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1; 276000) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997). [from OMIM]

MedGen UID:
65917
Concept ID:
C0235974
Neoplastic Process
5.

Diabetes mellitus

Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
6.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance. [from HPO]

MedGen UID:
504609
Concept ID:
CN000766
Finding
7.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Finding; Neoplastic Process
8.

Multiple endocrine neoplasia

An inherited condition that may result in the development of cancers of the endocrine system. There are several types of multiple endocrine neoplasia syndrome, and patients with each type may develop different types of cancer. The altered genes that cause each type can be detected with a blood test. [from NCI]

MedGen UID:
45036
Concept ID:
C0027662
Neoplastic Process
9.

ABO blood group system

The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither A nor B is present and AB when both are present. A and B are genetic factors that determine the presence of enzymes for the synthesis of certain glycoproteins mainly in the red cell membrane. [from MeSH]

MedGen UID:
1677
Concept ID:
C0000778
Body System
10.

Intestinal polyposis

The presence of multiple polyps in the intestine. [from HPO]

MedGen UID:
219797
Concept ID:
C1257915
Disease or Syndrome
11.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
12.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
13.

Disorder of skin

Your skin is your body's largest organ. It covers and protects your body. Your skin. -Holds body fluids in, preventing dehydration. -Keeps harmful microbes out, preventing infections. -Helps you feel things like heat, cold, and pain. -Keeps your body temperature even. -Makes vitamin D when the sun shines on it. Anything that irritates, clogs, or inflames your skin can cause symptoms such as redness, swelling, burning, and itching. Allergies, irritants, your genetic makeup, and certain diseases and immune system problems can cause rashes, hives, and other skin conditions. Many skin problems, such as acne, also affect your appearance. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
14.

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition characterized by the association of gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition. Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. Gastrointestinal polyps can result in chronic bleeding and anemia and also cause recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors (LCST) of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated. [from GeneReviews]

MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
15.

Pancreatic Neoplasms

Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA). [from MeSH]

MedGen UID:
18279
Concept ID:
C0030297
Neoplastic Process
16.

Pancreatitis

The pancreas is a large gland behind the stomach and close to the first part of the small intestine. It secretes digestive juices into the small intestine through a tube called the pancreatic duct. The pancreas also releases the hormones insulin and glucagon into the bloodstream. Pancreatitis is inflammation of the pancreas. It happens when digestive enzymes start digesting the pancreas itself. Pancreatitis can be acute or chronic. Either form is serious and can lead to complications. Acute pancreatitis occurs suddenly and usually goes away in a few days with treatment. It is often caused by gallstones. Common symptoms are severe pain in the upper abdomen, nausea, and vomiting. Treatment is usually a few days in the hospital for intravenous (IV) fluids, antibiotics, and medicines to relieve pain. Chronic pancreatitis does not heal or improve. It gets worse over time and leads to permanent damage. The most common cause is heavy alcohol use. Other causes include cystic fibrosis and other inherited disorders, high levels of calcium or fats in the blood, some medicines, and autoimmune conditions. Symptoms include nausea, vomiting, weight loss, and oily stools. Treatment may also be a few days in the hospital for intravenous (IV) fluids, medicines to relieve pain, and nutritional support. After that, you may need to start taking enzymes and eat a special diet. It is also important to not smoke or drink alcohol. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
14586
Concept ID:
C0030305
Disease or Syndrome
17.

Disorder of pancreas

The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include. -Pancreatitis, or inflammation of the pancreas: This happens when digestive enzymes start digesting the pancreas itself. - Pancreatic cancer. - Cystic fibrosis, a genetic disorder in which thick, sticky mucus can also block tubes in your pancreas. The pancreas also plays a role in diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked them. In type 2 diabetes, the pancreas loses the ability to secrete enough insulin in response to meals. .  [from MedlinePlus]

MedGen UID:
14583
Concept ID:
C0030286
Disease or Syndrome
18.

Hereditary cancer-predisposing syndrome

The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance. [from MeSH]

MedGen UID:
14326
Concept ID:
C0027672
Neoplastic Process
19.

Disorder of gastrointestinal tract

A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. [from NCI]

MedGen UID:
8970
Concept ID:
C0017178
Disease or Syndrome
20.

Lentigines

Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome). [from MeSH]

MedGen UID:
7301
Concept ID:
C0023321
Disease or Syndrome
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