Preferred Name |
Lynch syndrome |
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Synonyms |
hereditary defective mismatch repair syndrome Hereditary colorectal endometrial cancer syndrome Lynch syndrome familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) hereditary non-polyposis colon cancer type 1 Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) hereditary nonpolyposis colorectal cancer HNPCC - hereditary nonpolyposis colon cancer hereditary nonpolyposis colorectal neoplasm |
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Definitions |
Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0005835 |
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comment |
Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. |
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closeMatch | ||
database_cross_reference |
MedDRA:10051981 Orphanet:144 EFO:0007354 UMLS:C0009405 DOID:3883 NCIT:C8494 GARD:9905 SCTID:716318002 NORD:1386 |
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definition |
An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. |
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exactMatch |
http://purl.obolibrary.org/obo/NCIT_C8494 http://identifiers.org/snomedct/716318002 |
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has_broad_synonym |
hereditary nonpolyposis colorectal cancer HNPCC - hereditary nonpolyposis colon cancer hereditary nonpolyposis colorectal neoplasm |
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has_exact_synonym |
hereditary defective mismatch repair syndrome Hereditary colorectal endometrial cancer syndrome Lynch syndrome familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) hereditary non-polyposis colon cancer type 1 Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) |
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IAO_0000233 | ||
id |
MONDO:0005835 |
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in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
label |
Lynch syndrome |
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notation |
MONDO:0005835 |
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prefLabel |
Lynch syndrome |
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relatedMatch | ||
seeAlso |
https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria |
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treeView | ||
subClassOf |