Details of Disease

General Information of Disease (ID: DISXUNXN)

Disease Name 3MC syndrome 1
Synonyms
oculopalatoskeletal syndrome; Michels syndrome, formerly; Michels syndrome; 3MC1; craniosynostosis with 51D anomalies; 3Mc syndrome type 1; 3MC syndrome caused by mutation in MASP1; 3MC syndrome 1; MASP1 3MC syndrome; 3MC syndrome type 1
Definition Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.
Disease Hierarchy
DISJUBAL: 3MC syndrome
DISXUNXN: 3MC syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009770
MESH ID
C537738
UMLS CUI
C0796059
OMIM ID
257920
MedGen ID
167100
Orphanet ID
2506

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COLEC11 OT4GC46Y Strong Biomarker [1]
MASP1 OTWWCNZP Definitive Autosomal recessive [1]
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References

1 Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet. 2011 Mar;43(3):197-203. doi: 10.1038/ng.757. Epub 2011 Jan 23.