Papillorenal syndrome

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 the kidney and colobomas of the optic 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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