MCID: PPL048
MIFTS: 51

Papillorenal Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Papillorenal Syndrome

MalaCards integrated aliases for Papillorenal Syndrome:

Name: Papillorenal Syndrome 54 12 23 50 24 25 71 13 69
Renal Coloboma Syndrome 12 23 50 24 25 56 29 14
Coloboma of Optic Nerve with Renal Disease 12 50 25 56 71
Renal-Coloboma Syndrome 24 25 71 52
Congenital Anomalies of the Kidney and Urinary Tract with or Without Ocular Abnormalities 12 71
Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies 50 25
Renal-Coloboma Syndrome with Macular Abnormalities 12 71
Cakut with or Without Ocular Abnormalities 12 71
Optic Nerve Coloboma with Renal Disease 50 71
Papillo-Renal Syndrome, Optic Nerve Coloboma with Renal Disease 12
Optic Coloboma, Vesicoureteral Reflux and Renal Anomalies 12
Optic Coloboma Vesicoureteral Reflux and Renal Anomalies 71
Optic Nerve Coloboma Renal Syndrome 25
Coloboma-Ureteral-Renal Syndrome 25
Papillo-Renal Syndrome 56
Paprs 71
Oncr 25
Rcs 25

Characteristics:

Orphanet epidemiological data:

56
renal coloboma syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable phenotype
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


GeneReviews:

23
Penetrance One individual with a pathogenic variant in whom renal and ophthalmologic examinations are normal has been reported [bower et al 2012]. thus, penetrance appears to be greater than 99%. in individuals with pathogenic variants in pax2, the penetrance of eye malformations is at least 77% [bower et al 2012]. this should be viewed as a minimum figure, as fully 21% of individuals with pax2 pathogenic variants have not had a dilated eye examination to evaluate for subclinical abnormalities of the optic nerve. the penetrance for renal malformations or renal disease is at least 92%. again, this figure should be viewed as a minimum, as some individuals with pathogenic variants have not had full renal evaluations...

Classifications:



Summaries for Papillorenal Syndrome

OMIM : 54
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 congenital anomalies of kidney and urinary tract and oligomeganephronic renal hypoplasia, and has symptoms including visual impairment, nystagmus and strabismus. 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 cellular and embryo

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 : 50 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. last updated: 1/6/2012

UniProtKB/Swiss-Prot : 71 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 : 72 Papillorenal syndrome, also called renal-coloboma syndrome or isolated renal hypoplasia, is an autosomal... more...

GeneReviews: NBK1451

Related Diseases for Papillorenal Syndrome

Graphical network of the top 20 diseases related to Papillorenal Syndrome:



Diseases related to Papillorenal Syndrome

Symptoms & Phenotypes for Papillorenal Syndrome

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
proteinuria

Head And Neck- Eyes:
microphthalmia
retinal detachment (rare)
abnormal retinal vessels
retinal coloboma
optic nerve coloboma
more
Genitourinary- Kidneys:
renal cysts
renal hypoplasia
congenital anomalies of the kidney and urinary tract (cakut)
horseshoe kidney (rare)
end stage renal failure
more
Skin Nails & Hair- Skin:
soft skin
hyperextensible skin

Skeletal:
joint laxity

Genitourinary- Ureters:
vesicoureteral reflux
pyeloureteral duplication (rare)

Neurologic- Central Nervous System:
normal intelligence
mental retardation (one patient)
seizure disorder
arnold chiari type i malformation

Head And Neck- Ears:
sensorineural hearing loss (rare)


Clinical features from OMIM:

120330

Human phenotypes related to Papillorenal Syndrome:

56 32 (show all 36)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
5 renal insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0000083
6 vesicoureteral reflux 56 32 frequent (33%) Frequent (79-30%) HP:0000076
7 renal hypoplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000089
8 renal dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000110
9 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
10 optic nerve dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001093
11 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
12 retinal coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000480
13 optic nerve coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000588
14 multicystic kidney dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0000003
15 nephrolithiasis 32 occasional (7.5%) HP:0000787
16 retinal detachment 32 occasional (7.5%) HP:0000541
17 seizures 32 HP:0001250
18 proteinuria 32 HP:0000093
19 joint laxity 32 HP:0001388
20 microphthalmia 32 HP:0000568
21 macular degeneration 32 occasional (7.5%) HP:0000608
22 intellectual disability 32 HP:0001249
23 cataract 32 occasional (7.5%) HP:0000518
24 horseshoe kidney 32 occasional (7.5%) HP:0000085
25 edema 32 occasional (7.5%) HP:0000969
26 gliosis 32 HP:0002171
27 sensorineural hearing impairment 32 HP:0000407
28 chorioretinal atrophy 32 HP:0000533
29 soft skin 32 HP:0000977
30 hyperextensible skin 32 HP:0000974
31 renal malrotation 32 occasional (7.5%) HP:0004712
32 lens luxation 32 occasional (7.5%) HP:0012019
33 stage 5 chronic kidney disease 32 frequent (33%) HP:0003774
34 arnold-chiari type i malformation 32 HP:0007099
35 macular hyperpigmentation 32 occasional (7.5%) HP:0011509
36 orbital cyst 32 HP:0001144

UMLS symptoms related to Papillorenal Syndrome:


joint laxity

MGI Mouse Phenotypes related to Papillorenal Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.88 EN1 EYA1 OTX1 PAX2 PAX6
2 embryo MP:0005380 9.85 EN1 EYA1 OTX1 PAX2 PAX6
3 mortality/aging MP:0010768 9.85 EN1 EYA1 KIF26B OTX1 PAX2 PAX6
4 endocrine/exocrine gland MP:0005379 9.83 PAX2 PAX6 EN1 EYA1 OTX1
5 nervous system MP:0003631 9.72 EN1 EYA1 OTX1 PAX2 PAX6
6 hearing/vestibular/ear MP:0005377 9.71 EYA1 OTX1 PAX2 PAX6
7 renal/urinary system MP:0005367 9.46 EYA1 KIF26B PAX2 PAX6
8 pigmentation MP:0001186 9.43 EN1 PAX2 PAX6
9 reproductive system MP:0005389 9.35 EN1 EYA1 OTX1 PAX2 PAX6
10 vision/eye MP:0005391 8.92 EYA1 OTX1 PAX2 PAX6

Drugs & Therapeutics for Papillorenal Syndrome

Search Clinical Trials , NIH Clinical Center for Papillorenal Syndrome

Genetic Tests for Papillorenal Syndrome

Genetic tests related to Papillorenal Syndrome:

id Genetic test Affiliating Genes
1 Renal Coloboma Syndrome 29 24 PAX2

Anatomical Context for Papillorenal Syndrome

MalaCards organs/tissues related to Papillorenal Syndrome:

39
Kidney, Eye, Skin, Retina

Publications for Papillorenal Syndrome

Articles related to Papillorenal Syndrome:

(show all 17)
id Title Authors Year
1
Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome. ( 27107352 )
2016
2
Retinoschisis and outer retinal hole formation in a patient with papillorenal syndrome. ( 25932727 )
2015
3
Papillorenal syndrome in a family with unusual complications. ( 23686327 )
2013
4
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). ( 24032291 )
2013
5
A surviving case of papillorenal syndrome with the phenotype of Potter sequence. ( 21696512 )
2011
6
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. ( 21326282 )
2011
7
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. ( 20221250 )
2010
8
Papillorenal syndrome after Beta-interferon treatment in pregnancy. ( 19839859 )
2009
9
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. ( 18609495 )
2008
10
Diagnosing papillorenal syndrome: see the optic papilla. ( 18512081 )
2008
11
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. ( 28221651 )
2008
12
Abnormal optic discs and renal failure: papillorenal syndrome. ( 17083547 )
2006
13
Early diagnosis of the papillorenal syndrome by optic disc morphology. ( 16148630 )
2005
14
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. ( 15808183 )
2005
15
Papillorenal syndrome in a Brazilian family. ( 12470164 )
2002
16
Multifocal visual evoked potentials and multifocal electroretinograms in papillorenal syndrome. ( 12049607 )
2002
17
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. ( 11297491 )
2001

Variations for Papillorenal Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Papillorenal Syndrome:

71 (show all 17)
id Symbol AA change Variation ID SNP ID
1 PAX2 p.Gly76Ser VAR_003789 rs79555199
2 PAX2 p.Gly25Val VAR_068080
3 PAX2 p.Leu33Arg VAR_068081
4 PAX2 p.Ser61Ile VAR_068082
5 PAX2 p.Ser61Asn VAR_068083
6 PAX2 p.Leu69Pro VAR_068085
7 PAX2 p.Arg71Thr VAR_068086 rs104894170
8 PAX2 p.Gly84Ser VAR_068089
9 PAX2 p.Arg117Pro VAR_068090
10 PAX2 p.Pro130His VAR_068091
11 PAX2 p.Pro130Ser VAR_068092
12 PAX2 p.Asp2Gly VAR_071937
13 PAX2 p.Ile139Val VAR_071941
14 PAX2 p.Ala295Val VAR_071944
15 PAX2 p.Leu296Pro VAR_071945
16 PAX2 p.Pro298Ser VAR_071946
17 PAX2 p.Thr329Ala VAR_071947

ClinVar genetic disease variations for Papillorenal Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PAX2 NM_003990.4(PAX2): c.561delC (p.Asn188Metfs) deletion Pathogenic rs77777862 GRCh37 Chromosome 10, 102541067: 102541067
2 PAX2 NM_003990.4(PAX2): c.130_151del22 (p.Leu44Profs) deletion Pathogenic rs76675173 GRCh37 Chromosome 10, 102509589: 102509610
3 PAX2 PAX2, 6-BP DEL deletion Pathogenic
4 PAX2 NM_003990.4(PAX2): c.226G> A (p.Gly76Ser) single nucleotide variant Pathogenic rs79555199 GRCh37 Chromosome 10, 102510464: 102510464
5 PAX2 NM_000278.3(PAX2): c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) duplication Pathogenic rs387906530 GRCh37 Chromosome 10, 102510459: 102510464
6 PAX2 NM_003990.4(PAX2): c.76delG (p.Val26Cysfs) deletion Pathogenic rs75462234 GRCh37 Chromosome 10, 102509535: 102509535
7 PAX2 NM_003990.4(PAX2): c.75_76dupGG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh37 Chromosome 10, 102509534: 102509535
8 PAX2 NM_003990.4(PAX2): c.1023C> A (p.Tyr341Ter) single nucleotide variant Pathogenic rs78122364 GRCh37 Chromosome 10, 102584439: 102584439
9 PAX2 NM_000278.4(PAX2): c.706C> T (p.Gln236Ter) single nucleotide variant Pathogenic rs75399846 GRCh38 Chromosome 10, 100806519: 100806519
10 PAX2 NM_003990.4(PAX2): c.76dupG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh38 Chromosome 10, 100749778: 100749778

Copy number variations for Papillorenal Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38428 10 102495457 102579688 Deletion PAX2 Renal-coloboma syndrome

Expression for Papillorenal Syndrome

Search GEO for disease gene expression data for Papillorenal Syndrome.

Pathways for Papillorenal Syndrome

GO Terms for Papillorenal Syndrome

Cellular components related to Papillorenal Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 8.62 EYA1 PAX2

Biological processes related to Papillorenal Syndrome according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.91 EN1 EYA1 OTX1 PAX2 PAX6
2 positive regulation of transcription, DNA-templated GO:0045893 9.75 EYA1 PAX2 PAX6
3 transcription from RNA polymerase II promoter GO:0006366 9.74 OTX1 PAX2 PAX6
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.65 EN1 EYA1 OTX1 PAX2 PAX6
5 anatomical structure morphogenesis GO:0009653 9.6 EN1 EYA1
6 animal organ morphogenesis GO:0009887 9.59 EYA1 PAX6
7 axonogenesis GO:0007409 9.58 PAX2 PAX6
8 anterior/posterior pattern specification GO:0009952 9.56 OTX1 PAX6
9 forebrain development GO:0030900 9.55 OTX1 PAX6
10 camera-type eye development GO:0043010 9.54 PAX2 PAX6
11 positive regulation of epithelial cell proliferation GO:0050679 9.52 EYA1 PAX2
12 cell fate commitment GO:0045165 9.49 EYA1 PAX6
13 branching involved in ureteric bud morphogenesis GO:0001658 9.48 EYA1 PAX2
14 dorsal/ventral pattern formation GO:0009953 9.46 EN1 PAX6
15 midbrain development GO:0030901 9.43 EN1 OTX1
16 cochlea morphogenesis GO:0090103 9.4 EYA1 PAX2
17 establishment of mitotic spindle orientation GO:0000132 9.37 EYA1 PAX6
18 cell fate determination GO:0001709 9.32 PAX2 PAX6
19 mesodermal cell fate specification GO:0007501 9.16 EYA1 PAX2
20 inner ear morphogenesis GO:0042472 9.13 EYA1 OTX1 PAX2
21 multicellular organism development GO:0007275 9.1 EN1 EYA1 KIF26B OTX1 PAX2 PAX6

Molecular functions related to Papillorenal Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.13 EN1 OTX1 PAX6
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 8.8 EN1 OTX1 PAX6

Sources for Papillorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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