loading...| Preferred Name |
familial adenomatous polyposis |
|
| Synonyms |
polyposis coli |
|
| Definitions |
An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea. Patients have an increased incidence of developing abdominal or retroperitoneal desmoid tumors, bone exostoses, dental abnormalities, and epidermal cysts. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3339" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3339" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000042839 |
|
| altLabel |
polyposis coli familial adenomatous polyposis coli APC - adenomatous polyposis coli polyposis, familial adenomatous hereditary adenomatous polyposis coli FAP familial adenomatous polyposis syndrome adenomatous polyposis coli |
|
| Associated disease |
http://purl.bioontology.org/ontology/PDQ/CDR0000038828 http://purl.bioontology.org/ontology/PDQ/CDR0000729962 http://purl.bioontology.org/ontology/PDQ/CDR0000038736 http://purl.bioontology.org/ontology/PDQ/CDR0000043722 http://purl.bioontology.org/ontology/PDQ/CDR0000041487 http://purl.bioontology.org/ontology/PDQ/CDR0000550688 |
|
| cui |
C0032580 |
|
| Date last modified |
2012-03-01 |
|
| definition |
An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea. Patients have an increased incidence of developing abdominal or retroperitoneal desmoid tumors, bone exostoses, dental abnormalities, and epidermal cysts. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3339" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3339" NCI Thesaurus) |
|
| Legacy PDQ ID |
6640 |
|
| MENU PARENT |
precancerous condition |
|
| MENU TYPE |
Clinical Trials--CancerType |
|
| NCI ID |
C3339 |
|
| notation |
CDR0000042839 |
|
| ORIG STY |
Genetic condition |
|
| prefLabel |
familial adenomatous polyposis |
|
| tui |
T191 |
|
| subClassOf |