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CTDP1
No data
Diseases
Charcot-Marie-Tooth Disease, Type 4D
charcot-marie-tooth disease, type 4d
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Charcot-Marie-Tooth Disease, Type 4D
- Standard Disease Name
- charcot-marie-tooth disease, type 4d
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C535972
- OMIM ID
- 609309|120435
- UMLS ID
- 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 a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation 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 colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.