Gitelman Syndrome
| Disorder | |
|---|---|
| OMIM #: | #263800 (Click to access OMIM database) |
| Disorder: | Gitelman Syndrome |
| Also known as: | HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA, POTASSIUM AND MAGNESIUM DEPLETION |
| Clinical | |
| Phenotype: | muscle weakness, hypokalemic alkalosis, polydipsia, hypocalciuria, polyuria, hypomagnesemia, renal insufficiency, hypotension, seizures, paralysis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | SLC12A3 |
| Base Change: | C>G, at nucleotide 1924 |
| Amino Acid Change: | arg 642 --> gly |
| 2 Amish | |
| Gene: | SLC12A3 |
| Base Change: | 8627 bp deletion |
| Amino Acid Change: | |
| Last updated: | 2022-11-04 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
| Wan X, Perry J, Zhang H, Jin F, Ryan KA, Van Hout C, Reid J, Overton J, Baras A, Han Z, Streeten E, Li Y, Mitchell BD, Shuldiner AR, Fu M, Regeneron Genetics Center. (2021) Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium. J Am Soc Nephrol Mar;32(3):756-765. PubMed ID: 33542107 |
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