Mismatch Repair Cancer Syndrome 1 (MMRCS1)

Alias:
Turcot Syndrome
Constitutional Mismatch Repair Deficiency Syndrome
Mismatch Repair Deficiency
Brain Tumor-Polyposis Syndrome 1
Childhood Cancer Syndrome
Mmr Deficiency
Btp1 Syndrome
Childhood Cancer
Mmrcs1
Cmmrds
Btps1
Biallelic Mismatch Repair Deficiency Syndrome
Cancer Syndrome, Mismatch Repair
Mismatch Repair Cancer Syndrome
Cmmr-D Syndrome
Bmmrd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mismatch Repair Cancer Syndrome 1, also known as turcot syndrome, is related to mismatch repair cancer syndrome and lynch syndrome 4. An important gene associated with Mismatch Repair Cancer Syndrome 1 is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are Infectious disease and Regulation of TP53 Activity. The drugs Ciprofloxacin and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain and colon, and related phenotypes are multiple cafe-au-lait spots and astrocytoma
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
10
221
60

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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