| Galloway Mowat syndrome | |
| Classification and external resources | |
| OMIM | 251300 |
|---|---|
| DiseasesDB | 31334 |
| eMedicine | / |
Galloway Mowat syndrome is a very rare autosomal recessive[1] genetic disorder, consisting of a variety of features including hiatal hernia, microcephaly and nephrotic syndrome.[2]
Contents |
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
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.[3]
References
- ^ Cooperstone, Bg; Friedman, A; Kaplan, Bs (August 1993). "Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy" (Free full text). American journal of medical genetics 47 (2): 250–4. doi:. PMID 8213914. http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html.
- ^ Galloway, Wh; Mowat, Ap (December 1968). "Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs" (Free full text). Journal of medical genetics 5 (4): 319–21. doi:. ISSN 0022-2593. PMID 5713646. PMC: 1468664. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=5713646.
- ^ Srivastava, T; Whiting, Jm; Garola, Re; Dasouki, Mj; Ruotsalainen, V; Tryggvason, K; Hamed, R; Alon, Us (December 2001). "Podocyte proteins in Galloway-Mowat syndrome". Pediatric nephrology (Berlin, Germany) 16 (12): 1022–9. doi:. PMID 11793093.
External links
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