Galloway Mowat syndrome

From Wikipedia, the free encyclopedia

Galloway Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly and nephrotic syndrome.

Synonyms

  • Galloway Syndrome
  • Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
  • Microcephaly-Hiatal Hernia-Nephrosis, Galloway Type
  • Nephrosis-Microcephaly Syndrome
  • Nephrosis-Neuronal Dysmigration Syndrome
  • Microcephaly-Hiatal Hernia-Nephrotic Syndrome

    • Pathogenesis

    The exact genetic defect in Galloway Mowat syndrome is yet to be discovered. However, mutations in podocyte proteins, such as nephrin, alpha-actinin 4, and podocin, are associated with proteinuria and nephrotic syndrome. There is reduced expression of synaptopodin, GLEPP1, and nephrin in Galloway-Mowat syndrome, but these are likely secondary to the proteinuria, likely not the proteins mutated in Galloway-Mowat syndrome.Pediatric Nephrology article

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