Nephrotic Syndrome, Type 2
| Disorder | |
|---|---|
| OMIM #: | #600995 (Click to access OMIM database) |
| Disorder: | Nephrotic Syndrome, Type 2 |
| Also known as: | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE SRN1, NEPHROTIC SYNDROME, IDIOPATHIC, NPHS2 |
| Clinical | |
| Phenotype: | renal insufficiency, renal failure, proteinuria, hyperlipidemia, nephrotic syndrome, hypoalbuminemia, edema |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | NPHS2 |
| Base Change: | G>A, at nucleotide 413 |
| Amino Acid Change: | arg 138 --> gln |
| Last updated: | 2022-11-11 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2008) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
Back