Galloway Mowat syndrome

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

Contents 1 Synonyms 2 Pathogenesis 3 External links 4 Notes

[edit] 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

[edit] 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.^[1]

[edit] External links

• WebMD article

[edit] Notes

1. ^ Pediatric Nephrology article