Disorder "Congenital nephrotic syndrome"
Found 3 records
Disorder information
Disorder name:
Congenital nephrotic syndrome
Disoder ID:
Synonyms:
Congenital nephrosis
Definition:
Nephrotic syndrome with onset within the first three months of life.
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Altered severity(2)
,Altered onset time and severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| NPHS2 | NPHS2:rs61747728 | Expressivity | Altered onset time and severity | Assessment of genotype–phenotype associations | Being associated with a more severe and earlier onset presentationmore | more |
| NPHP4 | NPHP4:rs35641267 | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Modify ciliopathy phenotypesmore | more |
| BBS12 | BBS12:rs77731085 | Expressivity | Altered severity | Assessment of genotype–phenotype associations | Modify ciliopathy phenotypesmore | more |
Total 3,Each Page
,Jump To
Page