3MC syndrome 3

Summary
Definition
A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
Super Class
3MC syndrome
Disease Ontology
DOID:0060577
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10584 COLEC10 collectin subfamily member 10
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9Y6Z7 Collectin-10
The Human Phenotype Ontology
Displaying entries 41 - 45 of 45 in total
HPO ID HPO Term
HP:0005105 Abnormal nasal morphology
HP:0008689 Bilateral cryptorchidism
HP:0011968 Feeding difficulties
HP:0007957 Corneal opacity
HP:0100258 Preaxial polydactyly
Displaying all 3 entries
Gene ID Gene Symbol Description
10584 COLEC10 collectin subfamily member 10
5648 MASP1 MBL associated serine protease 1
78989 COLEC11 collectin subfamily member 11

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.4.0

Last updated: December 8, 2025