Disorder "Nephronophthisis"
Found 1 record
Disorder information
Disorder name:
Nephronophthisis
Disoder ID:
OMIM entry:
Synonyms:
medullary cystic disease,medullary cystic kidney
Definition:
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered sensorimotor symptoms(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| AHI1 | AHI1:c.2488C>T(p.Arg830Trp) | Expressivity | Altered sensorimotor symptoms | Pedigree analysis | AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisismore | more |
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