Details of Disease

General Information of Disease (ID: DISNR0AY)

• Disease Name: Mungan syndrome
• Synonyms: visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett oesophagus and cardiac abnormalities; visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities; pseudoobstruction chronic idiopathic intestinal with Barrett oesophagus and cardiac abnormalities; visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities; pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities; pseudoobstruction, chronic idiopathic intestinal, with Barrett oesophagus and Cardiac abnormalities; pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities; MUNGAN syndrome; MGS
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISNR0AY: Mungan syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0012657
  MESH ID: C548078
  UMLS CUI: C1969653
  OMIM ID: 611376
  MedGen ID: 369554

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GMNN	TT390KA	Strong	Genetic Variation	[1]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAD21	OTQS84ZF	Limited	Unknown	[2]
CDC45	OT6NNLOD	moderate	Biomarker	[3]
MCM5	OTAHLB62	moderate	Genetic Variation	[1]
ORC6	OTKQN3KP	moderate	Genetic Variation	[4]
CASK	OT8EF7ZF	Strong	Biomarker	[5]
CDC6	OTX93FE7	Strong	Genetic Variation	[6]

References

• [1] Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast.PLoS Genet. 2017 Oct 16;13(10):e1007041. doi: 10.1371/journal.pgen.1007041. eCollection 2017 Oct.
• [2] Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology. 2015 Apr;148(4):771-782.e11. doi: 10.1053/j.gastro.2014.12.034. Epub 2015 Jan 6.
• [3] Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature.Eur J Med Genet. 2020 Feb;63(2):103652. doi: 10.1016/j.ejmg.2019.04.009. Epub 2019 Apr 13.
• [4] Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6.Am J Med Genet A. 2015 Nov;167A(11):2533-40. doi: 10.1002/ajmg.a.37214. Epub 2015 Jul 2.
• [5] Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.
• [6] Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype.Hum Mol Genet. 2017 Nov 1;26(21):4168-4180. doi: 10.1093/hmg/ddx305.