Galloway Mowat syndrome

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DiseasesDB = 31334
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OMIM = 251300
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Galloway Mowat syndrome is a very rare autosomal recessive [cite journal |pmid=8213914 |year=1993 |month=Aug |author=Cooperstone, Bg; Friedman, A; Kaplan, Bs |title=Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy |volume=47 |issue=2 |pages=250–4 |doi=10.1002/ajmg.1320470221 |journal=American journal of medical genetics |url=http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html |format=Free full text] genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly and nephrotic syndrome. [cite journal |pmid=5713646 |pmc=1468664 |year=1968 |month=Dec |author=Galloway, Wh; Mowat, Ap |title=Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs |volume=5 |issue=4 |pages=319–21 |issn=0022-2593 |journal=Journal of medical genetics |url=http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=5713646 |format=Free full text]

ynonyms

* 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. [cite journal |pmid=11793093 |doi=10.1007/s004670100018 |year=2001 |month=Dec |author=Srivastava, T; Whiting, Jm; Garola, Re; Dasouki, Mj; Ruotsalainen, V; Tryggvason, K; Hamed, R; Alon, Us |title=Podocyte proteins in Galloway-Mowat syndrome |volume=16 |issue=12 |pages=1022–9 |journal=Pediatric nephrology (Berlin, Germany) ]

References

External links

* [http://webcenter.health.webmd.netscape.com/hw/health_guide_atoz/nord1042.asp WebMD article]
*RareDiseases|65|Microcephaly, hiatal hernia and nephrotic syndrome