COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5

General Information (adopted from Orphanet):

Synonyms, Signs: HNPCC5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012114) Endometrial carcinoma 5 / 7739
2
(HPO:0006716) Hereditary nonpolyposis colorectal carcinoma 6 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wijnen et al. (1999) found that atypical HNPCC families with MSH6 mutations displayed a very high frequency of atypical hyperplastic lesions and carcinomas of the endometrium: 73% in female MSH6 mutation carriers compared with 29% in MSH2 and ...