Galloway Mowat syndrome

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.