Galloway Mowat syndrome
| Galloway Mowat syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 251300 |
| DiseasesDB | 31334 |
| Patient UK | Galloway Mowat syndrome |
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]
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
Genetics
Galloway Mowat syndrome is an autosomal recessive disorder,[1] which means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Cause
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]
