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Items: 20

1.

Diabetes mellitus, permanent neonatal, with cerebellar agenesis

MedGen UID:
332288
Concept ID:
C1836780
Disease or Syndrome
2.

Neoplasm of the pancreas

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

MedGen UID:
330845
Concept ID:
C1842408
Finding
3.

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
4.

Senility

MedGen UID:
115903
Concept ID:
C0231337
Finding
5.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
6.

SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 2, PSEUDOGENE

MedGen UID:
854820
Concept ID:
C3888213
Finding
7.

Older Adulthood

The process of growing old and showing the effects of time. [from NCI]

MedGen UID:
468998
Concept ID:
C1999167
Finding; Population Group; Temporal Concept
8.

Disease Response

The pathologic and/or clinical changes that result from treatment. The changes may include eradication of detectable disease, stabilization of disease, or disease progression. [from NCI]

MedGen UID:
309976
Concept ID:
C1704632
Finding
9.

Neoplasm

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

MedGen UID:
227011
Concept ID:
C1306459
Finding; Neoplastic Process
10.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
11.

Mediator brand of benfluorex hydrochloride

An agent that acts as a link between parties, objects, or actions. [from NCI]

MedGen UID:
93010
Concept ID:
C0127400
Organic Chemical; Pharmacologic Substance
12.

Elderly person

A person 65 through 79 years of age. For a person older than 79 years, AGED, 80 AND OVER is available. [from MeSH]

MedGen UID:
7927
Concept ID:
C0001792
Finding; Population Group
13.

Pancreatic Neoplasms

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

MedGen UID:
18279
Concept ID:
C0030297
Neoplastic Process
14.

Abnormality of the 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
15.

Neoplasm by Site

A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc. [from MeSH]

MedGen UID:
10296
Concept ID:
C0027653
Neoplastic Process
16.

Digestive System Neoplasms

new abnormal digestive system tissue that grows by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease; includes neoplasms of any of the organs that are associated with ingestion, digestion, and absorption of food. [from CRISP]

MedGen UID:
8398
Concept ID:
C0012243
Neoplastic Process
17.

Neoplasm of the endocrine system

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

MedGen UID:
4044
Concept ID:
C0014132
Neoplastic Process
18.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
19.

Abnormality of the gastrointestinal tract

When you eat, your body breaks food down to a form it can use to build and nourish cells and provide energy. This process is called digestion. . Your digestive system is a series of hollow organs joined in a long, twisting tube. It runs from your mouth to your anus and includes your esophagus, stomach, and small and large intestines. Your liver, gallbladder and pancreas are also involved. They produce juices to help digestion. . There are many types of digestive disorders. The symptoms vary widely depending on the problem. In general, you should see your doctor if you have . -Blood in your stool. -Changes in bowel habits. -Severe abdominal pain. -Unintentional weight loss. -Heartburn not relieved by antacids. NIH: National Institute of Diabetes and Digestive and Kidney Diseases .  [from MedlinePlus]

MedGen UID:
3828
Concept ID:
C0012242
Disease or Syndrome
20.

DNA Damage Response Deficiency

A decrease in the ability of cells to respond to damaged DNA and to repair the damage. This DNA repair deficiency can be caused by mutations in the genes involved in the DNA damage response and/or DNA repair. [from NCI]

MedGen UID:
884791
Concept ID:
C4050123
Cell or Molecular Dysfunction
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