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
External Links
Disease Ontology
DOID:0060577
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
5648 MASP1 MBL associated serine protease 1
10584 COLEC10 collectin subfamily member 10
78989 COLEC11 collectin subfamily member 11
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P48740 Mannan-binding lectin serine protease 1
Q9Y6Z7 Collectin-10
The Human Phenotype Ontology
Displaying entries 41 - 45 of 45 in total
HPO ID HPO Term
HP:0000204 Cleft upper lip
HP:0000960 Sacral dimple
HP:0011968 Feeding difficulties
HP:0001263 Global developmental delay
HP:0000085 Horseshoe kidney
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024