Disease #00516 (MMRCS (cancer syndrome, mismatch repair (MMRCS)), OMIM:276300)

Official abbreviation MMRCS
Name cancer syndrome, mismatch repair (MMRCS)
OMIM ID 276300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 39
Phenotype entries for this disease 34
Associated with 4 genes MLH1, MSH2, MSH6, PMS2
Associated tissues -
Disease features -
Remarks -
Date created 2014-08-22 11:41:11 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

39 entries on 1 page. Showing entries 1 - 39.
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00065192 FamPatV3 PubMed: Vogt 2016, Journal: Vogt 2016 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes - - - - - - MMRCS brain tumour PMS2 - 2 1 Julia Vogt
00201829 - PubMed: Freha 2018, PubMed: Levi 2015 - F - Israel - - - - - CRC, MMRCS - - PMS2 1 1 InSiGHT - John-Paul Plazzer
00201870 - PubMed: Nguyen 2016 CMMRD syndrome in a family with a bi-allelic MLH1 mutation; 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. F - - - - - - - MMRCS - - MLH1 1 1 InSiGHT - John-Paul Plazzer
00202332 - PubMed: Suerink et al 2017 CMMRD diagnosis. Child of consanguineous parents; 4‚Äźgeneration family history negative for malignancies F - Netherlands - - - - - MMRCS - - PMS2 1 1 InSiGHT - John-Paul Plazzer
00204124 - PubMed: Bush 2018 sisters both diagnosed with CMMRD syndrome in their early 20s F - - - - - pedigree - MMRCS - - MSH6 2 1 InSiGHT - John-Paul Plazzer
00204176 - PubMed: Tesch 2018 - - - - - - - - - MMRCS - - MSH6 2 1 InSiGHT - John-Paul Plazzer
00204177 - PubMed: Tesch 2018 - - - - - - - - - MMRCS - - PMS2 1 1 InSiGHT - John-Paul Plazzer
00432528 - - - M - Netherlands - - - - - MMRCS - MLH1 MLH1 1 1 Richarda M de Voer
00432922 - - - F - Netherlands - - - - - MMRCS - MLH1 MLH1 1 1 Richarda M de Voer
00432923 - - - M - Netherlands - - - - - MMRCS - MLH1 MLH1 1 1 Richarda M de Voer
00432924 - - - F - Netherlands - - - - - MMRCS - MLH1 MLH1 1 1 Richarda M de Voer
00432925 - - - M - Netherlands - - - - - MMRCS - MLH1 MLH1 2 1 Richarda M de Voer
00432926 - - - F - Netherlands - - - - - MMRCS - MLH1 MLH1 1 1 Richarda M de Voer
00432927 - - - F - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432928 - - - M - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432929 - - - M - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432930 - - - F - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432931 - - - F - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432932 - - - M - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432933 - - - M - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432934 - - - F - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432935 - - - M - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432936 - - - M - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432937 - - - F - Netherlands - - - - - MMRCS - MSH2 MSH2 1 1 Richarda M de Voer
00432938 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432939 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432940 - - - F - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432941 - - - F - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432942 - - - F - Netherlands - - - - - MMRCS - PMS2 PMS2 1 1 Richarda M de Voer
00432943 - - - F - Netherlands - - - - - MMRCS - PMS2 PMS2 1 1 Richarda M de Voer
00432944 - - - M - Netherlands - - - - - MMRCS - PMS2 PMS2 1 1 Richarda M de Voer
00432945 - - - M - Netherlands - - - - - MMRCS - PMS2 PMS2 1 1 Richarda M de Voer
00432947 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432948 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432949 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432950 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432951 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
00432952 - - - F - Netherlands - - - - - MMRCS - MSH6 MSH6 2 1 Richarda M de Voer
00432953 - - - M - Netherlands - - - - - MMRCS - MSH6 MSH6 1 1 Richarda M de Voer
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