Details of Disease

General Information of Disease (ID: DISAXCJJ)

Disease Name 3MC syndrome 2
Synonyms
Carnevale syndrome; Osa syndrome; Carnevale syndrome, formerly; oculo-skeletal-abdominal syndrome; 3MC2; ptosis of eyelids with diastasis recti and hip dysplasia; 3MC syndrome caused by mutation in COLEC11; 3MC syndrome type 2; 3MC syndrome 2; COLEC11 3MC syndrome; 3Mc syndrome type 2
Definition Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.
Disease Hierarchy
DISJUBAL: 3MC syndrome
DISAXCJJ: 3MC syndrome 2
Disease Identifiers
MONDO ID
MONDO_0009927
MESH ID
C535586
UMLS CUI
C0796279
OMIM ID
265050
MedGen ID
167115
Orphanet ID
2998

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CENPJ OTZCQZN5 Strong Biomarker [1]
MASP1 OTWWCNZP Strong Biomarker [2]
COLEC11 OT4GC46Y Definitive Autosomal recessive [3]
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References

1 Determinants of Unintentional Leaks During CPAP Treatment in OSA.Chest. 2018 Apr;153(4):834-842. doi: 10.1016/j.chest.2017.08.017. Epub 2017 Aug 26.
2 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.
3 Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am J Med Genet. 1989 Jun;33(2):186-9. doi: 10.1002/ajmg.1320330210.