Galloway Mowat syndrome

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Galloway Mowat syndrome
OMIM 251300
DiseasesDB 31334

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Keywords: 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; nephrosis-microcephaly-hiatus hernia syndrome

Overview

Galloway Mowat syndrome is a very rare autosomal recessive genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly and 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.[1]

References

fi:Galloway-Mowatin oireyhtymä



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