Nephrosis syndrome, Type 1
| Disorder | |
|---|---|
| OMIM #: | #256300 (Click to access OMIM database) |
| Disorder: | Nephrosis syndrome, Type 1 |
| Also known as: | NPHS1 Congenital nephrotic syndrome 1 Finnish congenital nephrosis |
| Clinical | |
| Phenotype: | premature birth, large placenta, nephrotic syndrome, renal insufficiency, renal failure, proteinuria, urinary tract infections, growth deficiency, hypoproteinemia,, edema, hypertension |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | NPHS1 |
| Base Change: | del.C, at nucleotide 1481 |
| Amino Acid Change: | Frame shift |
| 2 Old Order Mennonite | |
| Gene: | NPHS1 |
| Base Change: | del.G, at nucleotide 3250 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2022-11-11 |
| References |
|---|
| Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A. (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the Old Order Mennonites. Am. J. Hum. Genet. 65:1785-1790. PubMed ID: 10577936 |
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