Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Certain disorders involving the immune mechanism
Autosomal recessive
2p21-p16.3
Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I may be present. Microsatellite instability may be detected in tumor samples. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613217.2 | United Arab Emirates | Male | No | Yes | Intractable diarrhea; Failure to thrive;... Intractable diarrhea; Failure to thrive; Metabolic acidosis; Abnormal blood ion concentration; Medulloblastoma; Death in infancy  | NC_000002.12:g.47584496_47665383del | Homozygous | Autosomal, Recessive | Alabdullatif et al. 2017 |