Galloway Mowat syndrome
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191604512
2008-02-15T07:55:31Z
Rcej
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added image, 3 categories
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OMIM = 251300 |
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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]].
==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==
[[Image:autorecessive.jpg|thumb|right|{{PAGENAME}} 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.<ref>http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11793093&dopt=Abstract <br> ''Pediatric Nephrology'' article</ref>
==External links==
*[http://webcenter.health.webmd.netscape.com/hw/health_guide_atoz/nord1042.asp WebMD article]
==References==
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{{Genetic-disorder-stub}}
[[Category:Genetic disorders]]
[[Category:Autosomal recessive disorders]]
[[Category:Syndromes]]
[[Category:Rare diseases]]
[[Category:Kidney diseases]]
[[Category:Neurological disorders]]
[[fi:Galloway-Mowatin oireyhtymä]]