Details of Disease

General Information of Disease (ID: DIS8ZPZT)

• Disease Name: Orofaciodigital syndrome V
• Synonyms: OFD syndrome 5; orofaciodigital syndrome 5; oral-Facial-digital syndrome, type 5; oral facial digital syndrome type 5; oral facial digital syndrome 5; oral-facial-digital syndrome 5; polydactyly, postaxial, with Median cleft of upper lip; Ofds 5; Thurston syndrome; orofaciodigital syndrome V; orofaciodigital syndrome, Thurston type; OFD5; polydactyly postaxial with median cleft of upper lip; orofaciodigital syndrome type 5; orofaciodigital syndrome Thurston type; oral-facial-digital syndrome type 5; polydactyly, postaxial, with median cleft of upper lip; orofaciodigital syndrome type V
• Definition: Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
• Disease Hierarchy:
  DISSB296: Orofaciodigital syndrome
  DIS8ZPZT: Orofaciodigital syndrome V
• Disease Identifiers:
  MONDO ID: MONDO_0008267
  MESH ID: C557819
  UMLS CUI: C1868118
  OMIM ID: 174300
  MedGen ID: 358131
  Orphanet ID: 2919
  SNOMED CT ID: 722105002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DDX59	OTHJANS0	Supportive	Autosomal recessive	[1]

References

• [1] Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. Am J Hum Genet. 2013 Sep 5;93(3):555-60. doi: 10.1016/j.ajhg.2013.07.012. Epub 2013 Aug 22.