UNC45A DEFICIENCY (OSTEO-OTO-HEPATO-ENTERIC SYNDROME (O2HE SYNDROME))

UNC45A deficiency causes osteo-oto-hepato-enteric syndrome. It is an autosomal recessive syndrome secondary to loss of function mutations in the UNC45A gene.60
Diagnosis

The main clinical features of osteo-oto-hepato-enteric syndrome include:60

  • Congenital diarrhoea
  • Congenital cholestasis
  • Bone fragility
  • Deafness

Diagnosis is confirmed by molecular and genetic testing.

Back to diagnostic algorithm
60. Esteve C, Francescatto L, Tan PL, et al. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility. Am J Hum Genet 2018;102:364-74.