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Items: 17

1.

Cystic fibrosis

Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include progressive obstructive lung disease with bronchiectasis, frequent hospitalizations for pulmonary disease, pancreatic insufficiency and malnutrition, recurrent sinusitis and bronchitis, and male infertility. Pulmonary disease is the major cause of morbidity and mortality in CF. Meconium ileus occurs at birth in 15%-20% of newborns with CF. More than 95% of males with CF are infertile. Congenital absence of the vas deferens (CAVD) is generally identified during evaluation of infertility or as an incidental finding at the time of a surgical procedure. Hypoplasia or aplasia of the vas deferens and seminal vesicles may occur either bilaterally or unilaterally. Testicular development and function and spermatogenesis are usually normal. [from GeneReviews]

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
2.

Trypsin

A serine endopeptidase that is formed from TRYPSINOGEN in the pancreas. It is converted into its active form by ENTEROPEPTIDASE in the small intestine. It catalyzes hydrolysis of the carboxyl group of either arginine or lysine. EC 3.4.21.4. [from MeSH]

MedGen UID:
21715
Concept ID:
C0041236
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
3.

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
4.

Fibrosis

formation of excess fibrous connective tissue [from CHV]

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
5.

Idiopathic chronic pancreatitis

MedGen UID:
574410
Concept ID:
C0341471
Disease or Syndrome
6.

Chronic pancreatitis

A recurrent form of pancreatitis. [from HPO]

MedGen UID:
101753
Concept ID:
C0149521
Disease or Syndrome
7.

Pancreatic Trypsin Secretory Inhibitor, Kazal

Pancreatic secretory trypsin inhibitor (79 aa, ~9 kDa) is encoded by the human SPINK1 gene. This protein plays a role in the modulation of trypsin activity. [from NCI]

MedGen UID:
43232
Concept ID:
C0085741
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
9.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
10.

Cholestasis of pregnancy

Intrahepatic cholestasis of pregnancy is a reversible form of cholestasis that occurs most often in the third trimester of pregnancy and recurs in 45 to 70% of subsequent pregnancies. Symptoms include pruritus, jaundice, increased serum bile salts, and abnormal liver enzymes, all of which resolve rapidly after delivery. However, the condition is associated with fetal complications, including placental insufficiency, premature labor, fetal distress, and intrauterine death. Some women with ICP may also be susceptible to oral contraceptive-induced cholestasis (OCIC) (summary by Pasmant et al., 2012). Genetic Heterogeneity of Intrahepatic Cholestasis of Pregnancy See also ICP3 (614972), caused by mutation in the ABCB4 gene (171060). [from OMIM]

MedGen UID:
82788
Concept ID:
C0268318
Disease or Syndrome
11.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. (NCI) [from NCI_CDISC]

MedGen UID:
59964
Concept ID:
C0205161
Finding
12.

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
13.

Protein secretory trypsin inhibitor

A pancreatic trypsin inhibitor common to all mammals. It is secreted with the zymogens into the pancreatic juice. It is a protein composed of 56 amino acid residues and is different in amino acid composition and physiological activity from the Kunitz bovine pancreatic trypsin inhibitor (APROTININ). [from MeSH]

MedGen UID:
90234
Concept ID:
C0311443
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
14.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
15.

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
16.

Chronic disease

Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed) [from MeSH]

MedGen UID:
3453
Concept ID:
C0008679
Disease or Syndrome
17.

Pancreatitis, chronic, susceptibility to

MedGen UID:
409826
Concept ID:
C1969419
Finding
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