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 |
|---|---|---|---|---|---|---|
| PKD2 | PKD2:c.1444T>G | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more |
| PKD1 | PKD1:c.12413G>A(p.R4138H) | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more |
| PKD1:c.3820G>A(p.V1274M) | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more | |
| PKD1:c.5307T>C(p.His1769His) | Expressivity | Altered severity | Pedigree analysis | The PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.more | more | |
| PKD1:c.6763C>T(p.R2255C) | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more | |
| PKD1:c.8259C>G(p.Y2753X) | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more | |
| PKD1:c.9484C>T(p.R3162C) | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more | |
| PKD1:rs201238819 | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more | |
| PKD1:rs530832015 | Expressivity | Altered severity | Pedigree analysis | Mutations in PKD genes are likely aggravate the phenotype.more | more | |
| NOS3 | NOS3:c.894T>G(p.Asp298Glu) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | The T allele of the Glu298Asp polymorphism of NOS3 gene is associated with earlier progression to ESRD in ADPKD patients.more | more |