01
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 24
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
Core Information
- Disease Name
- Lynch Syndrome I
- Standard Disease Name
- lynch syndrome i
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 120435
- UMLS ID
- C1333991|C2936783
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.|MSH2017_2016_08_12:Hereditary nonpolyposis colorectal neoplasms associated with other malignancies, more commonly of ovarian or uterine origin. When also associated with SEBACEOUS GLAND NEOPLASMS, it is called MUIR-TORRE SYNDROME.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease8 Targets
