Constitutional Mismatch Repair Deficiency (CMMRD) is an extremely rare genetic condition that significantly increases the risk of various cancers, particularly in children and young adults.
Here's a breakdown of CMMRD:
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Definition: CMMRD is a genetic disorder characterized by a deficiency in the mismatch repair (MMR) system. This system normally corrects errors that occur during DNA replication. When defective, these errors accumulate, leading to an increased risk of cancer. (OMIM #276300, ORPHA 252202)
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Rarity: CMMRD is exceptionally rare, affecting approximately 1 in 1,000,000 newborns.
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Cancer Risk: Individuals with CMMRD have a significantly elevated risk of developing a broad spectrum of tumors, including:
- Brain tumors
- Hematological malignancies (e.g., leukemia, lymphoma)
- Colorectal cancers
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Age of Onset: A defining characteristic of CMMRD is the early onset of cancers, often in childhood or young adulthood.
| Feature | Description |
|---|---|
| Name | Constitutional Mismatch Repair Deficiency (CMMRD) |
| Genetic Nature | Genetic disorder affecting the mismatch repair system |
| Rarity | Extremely rare (1 in 1,000,000 newborns) |
| Cancer Types | Broad spectrum, including brain tumors, hematological malignancies, and colorectal cancers |
| Age of Cancer Onset | Typically in children and young adults |
| Identifiers | OMIM #276300, ORPHA 252202 |
