Papillorenal Syndrome (PAPRS)

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OMIM 57 120330 Disease Ontology 12 DOID:0090006 ICD10 33 Q60.4 Orphanet 59 ORPHA1475 UMLS via Orphanet 74 C1852759 ICD10 via Orphanet 34 Q60.4

MedGen 42 C1852759 MeSH 44 D003103 D014718 D051437 KEGG 37 H01026 SNOMED-CT via HPO 69 204962002 82525005 263681008 197811007 236423003 42399005 41729002 32659003 29738008 204949001 103276001 15188001 343087000 95828007 60700002 39302008 128602000 22066006 246635007 397540003 7973008 128306009 193570009 247053007 95686007 42059000 57190000 204108000 61142002 17541006 44295002 422338006 563001 20741006 267038008 423666004 79654002 31021007 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 27911000 298203008 359580009 81415000 433146000 49008000 253185002 more UMLS 73 C1852759

OMIM : ⁵⁷ Papillorenal syndrome is an autosomal dominant disorder characterized by both ocular and renal anomalies. Less common findings include high frequency hearing loss, central nervous system anomalies, soft skin, ligamentous laxity, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development (summary by Eccles and Schimmenti, 1999; Negrisolo et al., 2011). The disorder shows wide inter- and intrafamilial variability. The renal features are part of a spectrum of malformations termed congenital anomalies of the kidney and urinary tract (CAKUT; see, e.g., 610805), and some patients with PAX2 mutations may present with CAKUT without obvious ocular abnormalities. In these patients, ocular abnormalities may be subtle and difficult to detect without advanced screening methods or may be normal (summary by Negrisolo et al., 2011; Iatropoulos et al., 2012). Eye anomalies associated with PAX2 mutations consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, designated optic nerve 'coloboma' or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease (summary by Schimmenti, 2011). (120330)

MalaCards based summary : Papillorenal Syndrome, also known as renal coloboma syndrome, is related to pax2-related disorder and congenital anomalies of kidney and urinary tract 1. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, eye and skin, and related phenotypes are nystagmus and hearing impairment

Disease Ontology : ¹² An autosomal dominant disease characterized by optic nerve coloboma and renal disease that has material basis in heterozygous mutation in the PAX2 gene on chromosome 10q24.

Genetics Home Reference : ²⁵ Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys.

NIH Rare Diseases : ⁵³ Renal coloboma syndrome is a rare condition that affects kidney and eye development. It is characterized by small underdeveloped kidneys, malformation of the optic nerve, and sometimes a hole (coloboma) in the retina. People with renal coloboma syndrome may progress to end stage kidney disease and some people experience vision loss. Less common symptoms include vesicoureteral reflux, multiple kidney cysts, loose joints, and mild hearing loss. The syndrome has an autosomal dominant pattern of inheritance and can be caused by mutations in the PAX2 gene. In about half of cases, the underlying cause can not be determined.

UniProtKB/Swiss-Prot : ⁷⁵ Papillorenal syndrome: An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease.

Wikipedia : ⁷⁶ Papillorenal syndrome, also called renal-coloboma syndrome or isolated renal hypoplasia, is an autosomal... more...

Clinical features from OMIM:

120330

Search Clinical Trials , NIH Clinical Center for Papillorenal Syndrome

Search GEO for disease gene expression data for Papillorenal Syndrome.