Oncology · Oncology / Hereditary cancer syndromes
Constitutional mismatch repair deficiency syndrome
also: CMMRD; Turcot syndrome type 1
Biallelic mismatch repair mutations with childhood cancers.
- Specialty
- Oncology
- Subspecialty
- Oncology / Hereditary cancer syndromes
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- MLH1, MSH2, MSH6, PMS2
- Alternative names & eponyms
- CMMRD; Turcot syndrome type 1
Etiology & mechanism
Biallelic MMR gene loss.
Gene(s) involved (4)
Symptoms & signs (5)
In plain terms, someone with Constitutional mismatch repair deficiency syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Bloom syndrome
leukemia, lymphoma
1 shared
Fanconi anemia
café-au-lait macules
1 shared
Gardner syndrome
colorectal cancer
1 shared
Jaffe–Campanacci syndrome
café-au-lait macules
1 shared
Li–Fraumeni syndrome
leukemia
1 shared
Lynch syndrome
colorectal cancer
1 shared
McCune–Albright syndrome
café-au-lait macules
1 shared
Muir–Torre syndrome
colorectal cancer
1 shared
Myelodysplastic syndromes
leukemia
1 shared
Neurofibromatosis type 1
café-au-lait macules
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