Polycystic kidney disease 1
| Disorder | |
|---|---|
| OMIM #: | #173900 (Click to access OMIM database) |
| Disorder: | Polycystic kidney disease 1 |
| Also known as: | POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE PKD1 POLYCYSTIC KIDNEY DISEASE, ADULT ADPKD POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I APKD1 POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, FORMERLY |
| Clinical | |
| Phenotype: | renal cysts, liver cysts, intracranial aneurysm, acute and chronic pain, nephrolithiasis, , end-stage renal disease, renal failure |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | PKD1 |
| Base Change: | c.12138+2T>C |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| References |
|---|
| Personal communication; seen at CSC. |
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