Cystinuria
| Disorder | |
|---|---|
| OMIM #: | #220100 (Click to access OMIM database) |
| Disorder: | Cystinuria |
| Also known as: | CSNU, CYSTINURIA, TYPE I, FORMERLY CSNU1, FORMERLY, CYSTINURIA, TYPE II, FORMERLY, CYSTINURIA, TYPE III, FORMERLY CSNU3, FORMERLY, CYSTINURIA, TYPE NON-I, FORMERLY, CYSTINURIA, TYPE A, INCLUDED, CYSTINURIA, TYPE B, INCLUDED, CYSTINURIA, TYPE A/B, INCLUDED |
| Clinical | |
| Phenotype: | renal stones, urinary tract obstruction, urinary tract infections, renal insufficiency, cystinuria, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant/recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | SLC3A1 |
| Base Change: | c.1136+2T>C |
| Amino Acid Change: | splicing defect |
| References 2 Old Order Mennonite |
|
| Gene: | SLC3A1 |
| Base Change: | C>T, at nucleotide 1354 |
| Amino Acid Change: | arg 452 --> trp |
| 3 Old Order Mennonite | |
| Gene: | SLC7A9 |
| Base Change: | C>T, at nucleotide 201 |
| Amino Acid Change: | ile 67 --> ile |
| 4 Old Order Mennonite | |
| Gene: | SLC7A9 |
| Base Change: | C>T, at nucleotide 1166 |
| Amino Acid Change: | thr 389 --> met |
| Last updated: | 2022-11-03 |
| References |
|---|
| Endsley J, Phillips J, III, Hruska K, Denneberg T, Carlson J, and George A, Jr. (1997) Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney International 51: 1893-1899. PubMed ID: 9186880 |
| Puffenberger EG. (2003) Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet C Semin Med Genet 15;121C(1):18-31. PubMed ID: 12888983 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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