Disease #00040

Official abbreviation MMRCS
Name cancer syndrome, mismatch repair (MMRCS)
OMIM ID 276300
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 6
Phenotype entries for this disease 1
Associated with 0 genes -
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Disease features -
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Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00034085 Freha et al. 2018,Levi et al. 2015 F Israel - - - - - CRC, MMRCS - - PMS2 1 1 John Paul Plazzer
00034128 Nguyen et al. 2016 F (France) - CMMRD syndrome in a family with a bi-allelic MLH1 mutation Yes "maternal uncle developed a CRC, which had a standard MSI-H phenotype and a loss of MLH1 protein expression (family pedigree in Fig.2a). Moreover, we discovered at this time that a cousin deceased at 8 years from an aggressive brain tumor and that several family members had a history of CRC at a young age." - MMRCS - - MLH1 1 1 John Paul Plazzer
00034593 Suerink et al 2017 F Netherlands - CMMRD diagnosis. Child of consanguineous parents - 4‚Äźgeneration family history negative for malignancies - MMRCS - - PMS2 1 1 John Paul Plazzer
00036444 Bush et al. 2018 F - - - Yes sisters both diagnosed with CMMRD syndrome in their early 20s - MMRCS - - MSH6 2 1 John Paul Plazzer
00036503 Tesch et al. 2018 - - - - - - - MMRCS - - MSH6 2 1 John Paul Plazzer
00036504 Tesch et al. 2018 - - - - - - - MMRCS - - PMS2 1 1 John Paul Plazzer
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