Details of Disease

General Information of Disease (ID: DISDQEL1)

Disease Name Turcot syndrome with polyposis
Definition
Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions.
Disease Hierarchy
DISW53RE: Familial adenomatous polyposis
DISDQEL1: Turcot syndrome with polyposis
Disease Identifiers
MONDO ID
MONDO_0020497
UMLS CUI
C5681818
MedGen ID
1826134
Orphanet ID
99818

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APC OTKV0TIK Supportive Autosomal dominant [1]
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References

1 APC-Associated Polyposis Conditions. 1998 Dec 18 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.