Salla Disease
| Disorder | |
|---|---|
| OMIM #: | #604369 (Click to access OMIM database) |
| Disorder: | Salla Disease |
| Also known as: | SALLA DISEASE SD, SIALURIA, FINNISH TYPE |
| Clinical | |
| Phenotype: | spasticity, dysarthria, ataxia, hypotonia, developmental delay, growth deficiency, short stature, high levels of sialic acid in the urine |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | SLC17A5 |
| Base Change: | C>T, at nucleotide 115 |
| Amino Acid Change: | arg 39 --> cys |
| Last updated: | 2022-11-14 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
| Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH. (2005) Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. Am J Med Genet A 138A(3):262-7. PubMed ID: 16158439 |
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