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1.

MUTYH-Associated Polyposis

An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. [from NCI]

MedGen UID:
474474
Concept ID:
C3272841
Neoplastic Process
2.

Polyposis

The development of numerous polyps (growths that protrude from a mucous membrane). [from NCI_NCI-GLOSS]

MedGen UID:
137722
Concept ID:
C0334108
Neoplastic Process
3.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
4.

Familial multiple polyposis syndrome

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis. [from GTR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
5.

Colorectal Carcinoma

A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. [from NCI]

MedGen UID:
3170
Concept ID:
C0009402
Neoplastic Process
6.

Carcinoma

A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed) [from MeSH]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
7.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
8.

Familial adenomatous polyposis

MedGen UID:
910615
Concept ID:
CN240755
Disease or Syndrome
9.

Mode of transmission

The process by which an infection is transmitted to a person. [from NCI]

MedGen UID:
731117
Concept ID:
C1443844
Finding
10.

Familial adenomatous polyposis 1

APC-associated polyposis conditions include: familial adenomatous polyposis (FAP), attenuated FAP, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colon cancer predisposition syndrome in which hundreds to thousands of adenomatous colonic polyps develop, beginning, on average, at age 16 years (range 7-36 years). By age 35 years, 95% of individuals with FAP have polyps; without colectomy, colon cancer is inevitable. The mean age of colon cancer diagnosis in untreated individuals is 39 years (range 34-43 years). Extracolonic manifestations are variably present and include: polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers. Attenuated FAP is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of colon cancer at a later age than in FAP. Certain extracolonic manifestations, such as gastric and duodenal polyps or cancers, are variably present in attenuated FAP; risk management may be substantially different between FAP and attenuated FAP. GAPPS is characterized by gastric fundic gland polyposis, increased risk of gastric cancer, and limited colonic involvement in most individuals reported. [from GTR]

MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
11.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
12.

Transmission

A passage or transfer, as of a disease from one individual to another. [from NCI]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function
13.

Oxidation

The process of oxidizing; the addition of oxygen to a compound accompanied by a loss of electrons. [from NCI]

MedGen UID:
18242
Concept ID:
C0030011
Molecular Function
14.

Endoglycosidases

MedGen UID:
760845
Concept ID:
C3537242
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
15.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
16.

Intestinal polyposis

The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps). [from MeSH]

MedGen UID:
219797
Concept ID:
C1257915
Disease or Syndrome
17.

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
18.

Salivary Gland Monomorphic Adenoma

A benign epithelial neoplasm arising from the salivary glands. It is characterized by the presence of a monomorphic cellular infiltrate. [from NCI]

MedGen UID:
64421
Concept ID:
C0205649
Neoplastic Process
19.

Microcystic Adenoma

A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. [from NCI]

MedGen UID:
64420
Concept ID:
C0205648
Neoplastic Process
20.

Adenomatous Polyp

A polypoid neoplasm arising from the glandular epithelium. There is proliferation of glandular cells which may display dysplastic cytologic features. Representative examples include the adenomatous polyps of the colon and rectum. [from NCI]

MedGen UID:
61657
Concept ID:
C0206677
Neoplastic Process
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