Galloway Mowat syndrome: Difference between revisions
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{{SK}} 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 | |||
==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]]. | '''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== | ==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.<ref>[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11793093&dopt=Abstract ''Pediatric Nephrology'' article]</ref> | 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 ''Pediatric Nephrology'' article]</ref> | ||
== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Disease]] | |||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Kidney diseases]] | [[Category:Kidney diseases]] | ||
Revision as of 07:21, 29 September 2012
| Galloway Mowat syndrome | |
| OMIM | 251300 |
|---|---|
| DiseasesDB | 31334 |
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
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]