- Papillorenal syndrome
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 32086
ICD10 =
ICD9 =
ICDO =
OMIM = 120330
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =Papillorenal syndrome, also called Renal-coloboma syndrome, is an
autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of thekidney andcoloboma s of theoptic nerve .OMIM|120330]Pathophysiology
The syndrome results from mutation of a copy of the PAX2 gene, a gene which is important in the development of both the eye and the kidney.
References
External Links
*RareDiseases|4106|Papillorenal syndrome
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