This website provides information on patients with mutations in the MASP1 gene, including clinical data, molecular data, management and research options.

3MC syndrome, caused by biallelic pathogenic variants in MASP1, COLEC11, or COLEC10, is a rare multisystem disorder characterized by distinctive craniofacial features, postnatal growth deficiency, hearing loss, genitourinary anomalies, and various skeletal malformations. Additional findings may include cardiac defects, anterior chamber anomalies of the eye, omphalocele or umbilical hernia, and mild developmental delay. However, these features do not occur in all individuals with a pathogenic variant in the MASP1 gene.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MASP1 gene.

Ceren Damla Durmaz, MD, Medical Geneticist, Department of Medical Genetics, Hacettepe University Medical Faculty, Ankara, Turkey, ceren.damla.durmaz@hacettepe.edu.tr
Sule Altiner, MD, Medical Geneticist, Department of Medical Genetics, Ankara University Medical Faculty, Ankara, Turkey, bicers@ankara.edu.tr