Papillorenal syndrome

A hereditary autosomal dominant disorder characterized by both ocular abnormalities including coloboma and renal anomalies such as renal hypoplasia, insufficiency and vesicoureteral reflux. Less common findings include HIGH FREQUENCY HEARING LOSS, central nervous system anomalies, soft skin, ligamentous laxity, and/or genital anomalies. The disorder shows wide inter- and intrafamilial variability and is caused by mutations in the PAX2 gene. OMIM: 120330

Also Known As:

Coloboma of optic nerve with renal disease; Coloboma-Ureteral-Renal Syndrome; Optic Nerve Coloboma Renal Syndrome; Optic coloboma, vesicoureteral reflux, and renal anomalies; Optic nerve coloboma with renal disease; Renal Coloboma Syndrome; Renal Hypoplasia, Isolated; Renal-Coloboma Syndrome With Macular Abnormalities; Renal-coloboma syndrome

Networked: 20 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Leber Congenital Amaurosis
2.	Retinoschisis (Retinoschisis, Juvenile)
3.	Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)
4.	Kallmann Syndrome (Kallmann's Syndrome)
5.	Aniridia

Experts

1.	Cho, Heeyeon: 1 article (01/2021)
2.	Furuichi, Kengo: 1 article (01/2021)
3.	Hirabayashi, Shigeki: 1 article (01/2021)
4.	Hosomichi, Kazuyoshi: 1 article (01/2021)
5.	Iwata, Yasunori: 1 article (01/2021)
6.	Jung, Jiwon: 1 article (01/2021)
7.	Kaneko, Shuichi: 1 article (01/2021)
8.	Kang, Hee Gyung: 1 article (01/2021)
9.	Keum, Changwon: 1 article (01/2021)
10.	Kitajima, Shinji: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Papillorenal syndrome:

1.	Retinaldehyde (Retinal)IBA 01/01/2022 - "Tipping the apoptotic balance towards apoptosis imparts a ureteric bud and retinal vascular branching phenotype similar to one that occurs in papillorenal syndrome. " 04/01/2001 - "Superonasal visual field defects, typical for papillorenal syndrome, corresponded to inferotemporal areas of anomalous retinal and choroidal perfusion and hypoplastic retina. " 02/01/2001 - "Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and retinal defects, and in humans, PAX2 mutations have been described in the renal-coloboma syndrome. " 08/30/2023 - "However, other kidney syndromes with cysts have ocular features including papillorenal syndrome (optic disc dysplasia), Hereditary Angiopathy Nephropathy, Aneurysms and muscle Cramps (HANAC) (tortuous retinal vessels), tuberous sclerosis (retinal hamartomas), von Hippel-Lindau syndrome (retinal hemangiomas), and Alport syndrome (lenticonus, fleck retinopathy). "
2.	PAX2 Transcription FactorIBA 04/01/2008 - "Papillorenal syndrome is an autosomal-dominant disease caused by mutations in the PAX2 transcription factor gene. " 08/01/2000 - "Some of these disorders are associated with congenital anomalies in multiple organ systems, and two such syndromes are considered in detail: first, the renal-coloboma syndrome, in which mutations of the PAX2 transcription factor cause partial failure of urinary tract growth; second, Kallmann's syndrome, in which mutations of a cell-signaling molecule are associated with the absence of the urinary tract. " 03/01/2003 - "The renal-coloboma syndrome is an autosomal dominant human disease, secondary to mutation of the PAX2 transcription factor, characterized by optic nerve coloboma, renal anomalies and vesicoureteral reflux. "
3.	Proteins (Proteins, Gene)FDA Link 10/28/2023 - "Paired box protein 2 (PAX2) gene variant causes renal coloboma syndrome (MIM#120330). " 01/01/2016 - "A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. "
4.	Vitamin D3 24-HydroxylaseIBA 01/01/2021 - "WES identified eight different conditions in these patients, i.e., autosomal dominant tubulointerstitial kidney disease associated with UMOD mutation; recurrent urinary stones associated with APRT deficiency; Ayme-Gripp syndrome associated with MAF mutation; short rib-thoracic dysplasia associated with IFT140 mutation; renal coloboma syndrome associated with PAX2 mutations; idiopathic infantile hypercalcemia associated with CYP24A1 mutation; and hypomagnesemia associated with TRPM mutation. "
5.	CaspasesIBA 02/01/2004 - "Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk."
6.	Interferon-betaIBA 01/01/2009 - "Papillorenal syndrome after Beta-interferon treatment in pregnancy."
7.	Transcription Factors (Transcription Factor)IBA 01/01/2021 - "PAX2 is a transcription factor essential for kidney development and the main causative gene for renal coloboma syndrome (RCS). "
8.	Prostaglandins DIBA 01/01/2018 - "Thirty-five unrelated mothers underwent PGD, and the following hereditary conditions were identified in their families: albinism (10 families); retinitis pigmentosa (7 families); retinoblastoma (4 families); blue cone monochromatism, achromatopsia, and aniridia (2 families each); and Hermansky-Pudlak syndrome, Leber congenital amaurosis, Norrie disease, papillorenal syndrome, primary congenital cataract, congenital glaucoma, Usher syndrome type 1F, and microphthalmia with coloboma (1 family each). "
9.	NucleotidesIBA 01/01/2007 - "Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype."
10.	DNA (Deoxyribonucleic Acid)IBA 12/01/1999 - "The coding region single nucleotide polymorphisms (cSNPs) were identified by sequencing of amplimers of PAX2 exon 8 exhibiting variant migration patterns in the course of genomic DNA mutation screening from patients with renal-coloboma syndrome. "

Therapies and Procedures

1.	Renal Replacement Therapy (Therapies, Renal Replacement) 04/01/2014 - "Many patients with renal coloboma syndrome develop end-stage renal disease requiring renal replacement therapy. "
2.	Kidney Transplantation 04/01/2015 - "A history of prior renal transplantation due to poor kidney development led to the diagnosis of papillorenal syndrome."
3.	Vitrectomy 08/01/2023 - "Vitrectomy for Retinoschisis in Papillorenal Syndrome Related to PAX2 Mutation."
4.	Splenectomy 04/01/2014 - "To our knowledge, this is the first report of an ABO-incompatible living-donor renal transplant without a splenectomy performed in a patient with renal coloboma syndrome, a rare disorder caused by PAX2 gene mutations, and that presents with renal and optic nerve hypodysplasia and disorders of the central nervous system. " 04/01/2014 - "Successful ABO-incompatible living-donor renal transplant without splenectomy for renal coloboma syndrome: a case report."