loading...| Preferred Name |
Turcot syndrome |
|
| Synonyms |
MMRCS2 |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536928 |
|
| altLabel |
MMRCS2 mismatch repair cancer syndrome 4 CNS tumors with Familial polyposis of the colon Brain Tumor-Polyposis Syndrome 1 Mismatch Repair Cancer Syndrome Mismatch Repair Deficiency mismatch repair cancer syndrome 3 MMRCS3 MMRCS1 mismatch repair cancer syndrome 1 mismatch repair cancer syndrome 2 MMRCS4 MMR Deficiency |
|
| cui |
C5399763 C5436807 C0265325 C5436806 C5436817 |
|
| HM |
D001932 D015179 D009386 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D015179 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
344 |
|
| MMR |
20210520 |
|
| notation |
C536928 |
|
| prefLabel |
Turcot syndrome |
|
| SC |
3 |
|
| Scope Statement |
Constitutional mismatch repair deficiency is a rare hereditary, autosomal recessive childhood cancer predisposition syndrome with four main tumor types: HEMATOLOGIC NEOPLASMS; BRAIN NEOPLASMS and CENTRAL NERVOUS SYSTEM NEOPLASMS; COLORECTAL NEOPLASMS and multiple INTESTINAL POLYPS, and other malignancies including embryonic tumors and RHABDOMYOSARCOMA. Many patients show signs reminiscent of NEUROFIBROMATOSIS TYPE I (OMIM: 162200). 'Turcot syndrome' classically refers to the combination of colorectal polyposis and primary tumors of the central nervous system. Mutations in the MLH1, MSH2, MSH6, and PMS2 genes have been identified. OMIM: 276300 |
|
| TERMUI |
T001103247 T001103251 T001103249 T001103252 T800888 T800887 T824908 T800893 T001103254 T001103248 T740902 T001103253 T740900 T001103250 |
|
| TH |
OMIM (2013) NLM (2022) ORD (2010) |
|
| tui |
T047 |