Galloway Mowat syndrome

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Galloway Mowat syndrome Classification and external resources
OMIM	251300
DiseasesDB	31334

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

1 Synonyms
2 Pathogenesis
3 External links
4 References

[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

Galloway Mowat syndrome has an autosomal recessive pattern of inheritance.

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]