Disorder "Autosomal Dominant Polycystic Kidney Disease"
Found 11 records
Disorder information
Disorder name:
Autosomal Dominant Polycystic Kidney Disease
Disoder ID:
Synonyms:
Congenital biliary ectasias, POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Definition:
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.
Modifier statisitcs
Record:
11
Gene:
4
Variant:
11
Reference:
4
Effect type:
Expressivity(11)
Modifier effect:
Altered severity(9)
,Altered onset time(1)
,Altered progression of CKD(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| AGT | AGT:c.620C>T(p.Thr207Met) | Expressivity | Altered progression of CKD | P<0.05 | Significant association between Thr207Met polymorphism of AGT and CKD progression and acts as an effect modifier of renal disease progression in ADPKD.more | more |