Papillorenal Syndrome (PAPRS)

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Disease Ontology 12 DOID:0090006 OMIM 56 120330 KEGG 36 H01026 MeSH 43 D003103 D014718 D051437 ICD10 32 Q60.4 ICD10 via Orphanet 33 Q60.4

UMLS via Orphanet 72 C1852759 Orphanet 58 ORPHA1475 MedGen 41 C1852759 SNOMED-CT via HPO 68 103276001 128306009 128602000 128613002 15188001 17541006 193570009 197811007 204108000 204949001 204962002 20741006 22066006 228156007 236423003 246545002 246635007 247053007 247578003 253185002 263681008 267038008 27911000 29738008 298203008 31021007 313307000 32659003 343087000 359580009 39302008 397540003 41729002 42059000 422338006 423666004 42399005 433146000 44295002 49008000 563001 57190000 60700002 61142002 79654002 7973008 81415000 82525005 84757009 91138005 91175000 95686007 95828007 more UMLS 71 C1852759

OMIM : ⁵⁶ 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 oligomeganephronia and scleral staphyloma. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and retina, and related phenotypes are renal insufficiency and optic nerve dysplasia

Disease Ontology : ¹² A syndrome 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. Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision. Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.

NIH Rare Diseases : ⁵² 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.

KEGG : ³⁶ Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of RCS.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Papillorenal syndrome, is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia)... more...

Clinical features from OMIM:

120330

Search NIH Clinical Center for Papillorenal Syndrome

Search GEO for disease gene expression data for Papillorenal Syndrome.