Lynch Syndrome (COCA1) malady

Genetics Home Reference:²² Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.

MalaCards based summary: Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to male breast cancer and muir-torre syndrome, and has symptoms including weight loss, anemia and constipation. An important gene associated with Lynch Syndrome is MLH1 (mutL homolog 1), and among its related pathways are Busulfan Pathway, Pharmacodynamics and Doxorubicin Pathway, Pharmacokinetics. The compounds 6 thioguanine and n-methyl-n-nitrosourea have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and skin, and related mouse phenotypes are endocrine/exocrine gland and integument.

NIH Rare Diseases:⁴² Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. individuals with lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. women with lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with lynch syndrome may occasionally have colon polyps. lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the mlh1, msh2, msh6, pms2 or epcam gene. last updated: 10/18/2013

Wikipedia:⁶⁴ Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic... more...

Descriptions from OMIM:⁴⁶ 609310,613244,120435

GeneReviews summary for hnpcc

External Ids:

Disease Ontology9 DOID:3883 OMIM46 609310, 613244, 120435 SNOMED-CT56 315058005

MeSH34 D003123 UMLS61 C1333990, C0009405

Clinical features from OMIM:

609310,613244,120435

HPO human phenotypes related to Lynch Syndrome:

(show all 20)

id	Description	Frequency	HPO Source Accession
1	weight loss	hallmark (90%)	HP:0001824
2	anemia	hallmark (90%)	HP:0001903
3	constipation	hallmark (90%)	HP:0002019
4	malabsorption	hallmark (90%)	HP:0002024
5	gastrointestinal hemorrhage	hallmark (90%)	HP:0002239
6	intestinal obstruction	hallmark (90%)	HP:0005214
7	neoplasm of the colon	hallmark (90%)	HP:0100273
8	neoplasm of the rectum	hallmark (90%)	HP:0100743
9	neoplasm of the pancreas	typical (50%)	HP:0002894
10	neoplasm of the nervous system	typical (50%)	HP:0004375
11	neoplasm of the stomach	typical (50%)	HP:0006753
12	renal neoplasm	typical (50%)	HP:0009726
13	uterine neoplasm	typical (50%)	HP:0010784
14	biliary tract neoplasm	typical (50%)	HP:0100574
15	ovarian neoplasm	typical (50%)	HP:0100615
16	neoplasm of the small intestine	typical (50%)	HP:0100833
17	recurrent urinary tract infections	occasional (7.5%)	HP:0000010
18	ascites	occasional (7.5%)	HP:0001541
19	nausea and vomiting	occasional (7.5%)	HP:0002017
20	hepatomegaly	occasional (7.5%)	HP:0002240