Pierson syndrome
| Disorder | |
|---|---|
| OMIM #: | #609049 (Click to access OMIM database) |
| Disorder: | Pierson syndrome |
| Also known as: | Nephrotic Syndrome, Type 5, with ocular abnormalities |
| Clinical | |
| Phenotype: | Chronic kidney disease, nephrotic syndrome, proteinuria, edema bilateral chorioretinal pigmentary changes, retinal detachment |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | LAMB2 |
| Base Change: | A>G, at nucleotide 440 |
| Amino Acid Change: | his 147 --> arg |
| Last updated: | 2022-11-15 |
| References |
|---|
| Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. (2011) A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. Ophthalmology 6:1137-44. PubMed ID: 3223484 |
Back