Nephronophthisis 3
| Disorder | |
|---|---|
| OMIM #: | #604387 (Click to access OMIM database) |
| Disorder: | Nephronophthisis 3 |
| Also known as: | Lethal cystic kidney disease NPHP3 |
| Clinical | |
| Phenotype: | Respiratory distress, oligohydramnios, cystic kidneys, low-set ears, small lungs, liver fibrosis, polydipsia, polyuria |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | NPHP3 |
| Base Change: | C>T, at nucleotide 2104 |
| Amino Acid Change: | arg 702 --> term |
| Last updated: | 2022-11-11 |
| References |
|---|
| Simpson MA, Cross HE, Cross L, Helmuth M, Crosby AH. (2009) Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. Am J Kidney Dis May;53(5):790-5. PubMed ID: 19303681 |
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