PAPRS
MCID: PPL048
MIFTS: 51
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Papillorenal Syndrome (PAPRS)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Papillorenal Syndrome:
Characteristics:Orphanet epidemiological data:59
renal coloboma syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype onset in infancy ocular abnormalities may be very mild end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported HPO:32
papillorenal syndrome:
Onset and clinical course phenotypic variability infantile onset Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Nephrological diseases Neuronal diseases
ICD10:
33
34
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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 coloboma of macula and renal hypoplasia. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2). 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... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:120330Human phenotypes related to Papillorenal Syndrome:59 32 (show all 37)
MGI Mouse Phenotypes related to Papillorenal Syndrome:46
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MalaCards organs/tissues related to Papillorenal Syndrome:41
Kidney,
Eye,
Skin,
Retina,
Bone,
B Cells,
Bone Marrow
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Articles related to Papillorenal Syndrome:(show all 50)
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UniProtKB/Swiss-Prot genetic disease variations for Papillorenal Syndrome:75 (show all 17)
ClinVar genetic disease variations for Papillorenal Syndrome:6 (show all 37)
Copy number variations for Papillorenal Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Papillorenal Syndrome.
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Cellular components related to Papillorenal Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Papillorenal Syndrome according to GeneCards Suite gene sharing:
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