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1.

Attenuated FAP

A mild form of familial adenomatous polyposis with main features described as the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features. [from SNOMEDCT_US]

MedGen UID:
436213
Concept ID:
C2674616
Disease or Syndrome
2.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Quantitative Concept
3.

Familial adenomatous polyposis

MedGen UID:
910615
Concept ID:
CN240755
Disease or Syndrome
4.

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 GeneReviews]

MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
5.

Schinzel-Giedion syndrome

Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010). [from OMIM]

MedGen UID:
341423
Concept ID:
C1849294
Disease or Syndrome
6.

Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome (SGS) is characterized by: craniosynostosis of the coronal, sagittal, or lambdoid sutures; dolichocephaly; distinctive craniofacial features; skeletal changes (dolichostenomelia, arachnodactyly, camptodactyly, pes planus, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures and C1/C2 spine malformation); neurologic abnormalities; intellectual disability; and brain anomalies (hydrocephalus, dilatation of the lateral ventricles, and Chiari 1 malformation). Cardiovascular anomalies may include mitral valve prolapse, mitral regurgitation/incompetence, aortic regurgitation, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, myopia, and cryptorchidism in males are also characteristic findings. [from GeneReviews]

MedGen UID:
231160
Concept ID:
C1321551
Congenital Abnormality; Disease or Syndrome
7.

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
8.

Schinzel-Giedion syndrome

Developmental delay, midface retraction, hirsutism, multiple skeletal anomalies, seizures, and cardiac and renal malformations. [from MCA/MR]

MedGen UID:
120517
Concept ID:
C0265227
Congenital Abnormality; Disease or Syndrome
9.

Ameliorated by

Weakened or thinned. Attenuated strains of disease-causing bacteria and viruses are often used as vaccines. The weakened strains are used as vaccines because they stimulate a protective immune response while causing no disease or only mild disease in the person receiving the vaccine. [from NCI_NCI-GLOSS]

MedGen UID:
83049
Concept ID:
C0332161
Qualitative Concept
10.

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 GHR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
11.

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
12.

Intestinal polyposis

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

MedGen UID:
219797
Concept ID:
C1257915
Disease or Syndrome
13.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
14.

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
15.

Rare Diseases

A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases. -May involve chronic illness, disability, and often premature death. -Often have no treatment or not very effective treatment. -Are frequently not diagnosed correctly. -Are often very complex. -Are often caused by changes in genes. It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health.  [from MedlinePlus]

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome
16.

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
17.

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
18.

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
19.

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
20.

Follicular adenoma

MedGen UID:
61429
Concept ID:
C0205647
Neoplastic Process
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