Disorder "Nephrotic Syndrome"
Found 1 record
Disorder information
Disorder name:
Nephrotic Syndrome
Disoder ID:
Definition:
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| NPHS2 | NPHS2:c.-52C>G | Expressivity | Altered severity | P<0.01 | One of these (i.e., -52C>G) is associated with a poor clinical outcome and evolution to end-stage renal failuremore | more |
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