Galloway Mowat syndrome
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| Galloway Mowat syndrome Classification and external resources | |
| OMIM | 251300 |
|---|---|
| DiseasesDB | 31334 |
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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
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]
External links
Notes
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

