Senior-Loken Syndrome 1
| Disorder | |
|---|---|
| OMIM #: | #266900 (Click to access OMIM database) |
| Disorder: | Senior-Loken Syndrome 1 |
| Also known as: | SLSN1, SENIOR-LOKEN SYNDROME, LOKEN-SENIOR SYNDROME, RENAL-RETINAL SYNDROME, JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS, RENAL DYSPLASIA AND RETINAL APLASIA |
| Clinical | |
| Phenotype: | renal insufficiency, weakness, lethargy, polyuria, polydipsia, renal failure, proteinuria, anemia, congenital amaurosis, retinitis pigmentosa, retinal dystrophy, diabetes insipidus |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | NPHP1 |
| Base Change: | |
| Amino Acid Change: | |
| Last updated: | 2022-11-14 |
| References |
|---|
| Schimke RN. (1969) Hereditary renal-retinal dysplasia. Ann Intern Med 70(4): 735-744. PubMed ID: 5771531 |
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