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


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • Androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Saethre-Chotzen syndrome — Classification and external resources OMIM 101400 DiseasesDB 29331 MeSH …   Wikipedia

  • Complete androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …   Wikipedia

  • Mild androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 E …   Wikipedia

  • Nail–patella syndrome — Classification and external resources Nail of a patient with nail patella syndrome ICD 10 Q …   Wikipedia

  • Partial androgen insensitivity syndrome — Classification and external resources AIS results when the function of the androgen receptor (AR) is impaired. The AR protein (pictured) mediates the effects of androgens in the human body. ICD 10 …   Wikipedia

  • Tietz syndrome — Not to be confused with Tietze syndrome. Tietz syndrome Classification and external resources ICD 10 E70.3 (ILDS E70.358) OMIM 103500 …   Wikipedia

  • Kabuki syndrome — Classification and external resources ICD 10 Q89.8 …   Wikipedia

  • Greig cephalopolysyndactyly syndrome — Classification and external resources OMIM 175700 …   Wikipedia

  • Pallister-Hall syndrome — Classification and external resources OMIM 146510 DiseasesDB 32013 MeSH …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”