Details of Disease

General Information of Disease (ID: DISJUBAL)

• Disease Name: 3MC syndrome
• Synonyms: Malpuech-Michels-Mingarelli-Carnevale syndrome; oculopalatoskeletal syndrome; craniofacial-ulnar-renal syndrome
• Definition: 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISJUBAL: 3MC syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0017398
  UMLS CUI: C4303860
  MedGen ID: 929529
  Orphanet ID: 293843
  SNOMED CT ID: 720756005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COLEC10	OTMBADGZ	Supportive	Autosomal recessive	[1]
COLEC11	OT4GC46Y	Supportive	Autosomal recessive	[2]
MASP1	OTWWCNZP	Supportive	Autosomal recessive	[2]

References

• [1] COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genet. 2017 Mar 16;13(3):e1006679. doi: 10.1371/journal.pgen.1006679. eCollection 2017 Mar.
• [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.