PAPRS
MCID: PPL048
MIFTS: 50

Papillorenal Syndrome (PAPRS)

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 57 12 53 25 75 13 40 73
Renal Coloboma Syndrome 12 53 25 59 37 29 6 15
Coloboma of Optic Nerve with Renal Disease 57 12 53 25 59 75
Renal-Coloboma Syndrome 57 25 75 55
Congenital Anomalies of the Kidney and Urinary Tract with or Without Ocular Abnormalities 57 12 75
Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies 57 53 25
Renal-Coloboma Syndrome with Macular Abnormalities 57 12 75
Cakut with or Without Ocular Abnormalities 57 12 75
Optic Nerve Coloboma with Renal Disease 57 53 75
Paprs 57 75
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 75
Optic Nerve Coloboma Renal Syndrome 25
Coloboma-Ureteral-Renal Syndrome 25
Papillo-Renal Syndrome 59
Oncr 25
Rcs 25

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:



Summaries for Papillorenal Syndrome

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...

Related Diseases for Papillorenal Syndrome

Diseases related to Papillorenal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pax2-related disorder 11.5
2 congenital anomalies of kidney and urinary tract 1 11.0
3 scleral staphyloma 10.0 PAX2 PAX6
4 congenital aphakia 9.9 PAX2 PAX6
5 retinitis 9.9
6 axenfeld-rieger syndrome, type 1 9.8 PAX2 PAX6
7 ovarian brenner tumor 9.7 PAX2 SALL4
8 wilms tumor 5 9.5 PAX2 PAX6
9 coloboma of macula 9.0 GCNT2 PAX2 PAX6

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:

57
Laboratory Abnormalities:
proteinuria

Skeletal:
joint laxity

Genitourinary Kidneys:
renal hypoplasia
renal cysts
congenital anomalies of the kidney and urinary tract (cakut)
end stage renal failure
multicystic dysplastic kidneys
more
Neurologic Central Nervous System:
normal intelligence
mental retardation (one patient)
seizure disorder
arnold chiari type i malformation

Head And Neck Eyes:
microphthalmia
optic nerve coloboma
retinal coloboma
optic disc dysplasia
excavation of optic disc (pits)
more
Genitourinary Ureters:
vesicoureteral reflux
pyeloureteral duplication (rare)

Skin Nails Hair Skin:
hyperextensible skin
soft skin

Head And Neck Ears:
sensorineural hearing loss (rare)


Clinical features from OMIM:

120330

Human phenotypes related to Papillorenal Syndrome:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
3 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
4 renal insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000083
5 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
6 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
7 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
8 multicystic kidney dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000003
9 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
10 renal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000089
11 optic nerve coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000588
12 renal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000110
13 retinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000480
14 optic nerve dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001093
15 intellectual disability 32 HP:0001249
16 seizures 32 HP:0001250
17 cataract 32 occasional (7.5%) HP:0000518
18 sensorineural hearing impairment 32 HP:0000407
19 proteinuria 32 HP:0000093
20 edema 32 occasional (7.5%) HP:0000969
21 horseshoe kidney 32 occasional (7.5%) HP:0000085
22 microphthalmia 32 HP:0000568
23 retinal detachment 32 occasional (7.5%) HP:0000541
24 lens luxation 32 occasional (7.5%) HP:0012019
25 joint laxity 32 HP:0001388
26 nephrolithiasis 32 occasional (7.5%) HP:0000787
27 macular degeneration 32 occasional (7.5%) HP:0000608
28 hyperextensible skin 32 HP:0000974
29 stage 5 chronic kidney disease 32 frequent (33%) HP:0003774
30 gliosis 32 HP:0002171
31 renal malrotation 32 occasional (7.5%) HP:0004712
32 arnold-chiari type i malformation 32 HP:0007099
33 chorioretinal atrophy 32 HP:0000533
34 soft skin 32 HP:0000977
35 macular hyperpigmentation 32 occasional (7.5%) HP:0011509
36 orbital cyst 32 HP:0001144
37 morning glory anomaly 32 HP:0025514

MGI Mouse Phenotypes related to Papillorenal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.65 KIF26B OTX1 PAX2 PAX6 SALL4
2 hearing/vestibular/ear MP:0005377 9.46 OTX1 PAX2 PAX6 SALL4
3 renal/urinary system MP:0005367 9.35 GCNT2 KIF26B PAX2 PAX6 SALL4
4 vision/eye MP:0005391 8.92 PAX2 PAX6 SALL4 OTX1

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:

# Genetic test Affiliating Genes
1 Renal Coloboma Syndrome 29 PAX2

Anatomical Context for Papillorenal Syndrome

MalaCards organs/tissues related to Papillorenal Syndrome:

41
Kidney, Eye, Skin, Retina, Brain

Publications for Papillorenal Syndrome

Articles related to Papillorenal Syndrome:

(show all 49)
# Title Authors Year
1
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication. ( 29054766 )
2018
2
Three New<i>PAX2</i>Gene Mutations in Patients with Papillorenal Syndrome. ( 29339962 )
2017
3
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. ( 28820764 )
2017
4
Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome. ( 27107352 )
2016
5
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. ( 26571382 )
2015
6
Retinoschisis and outer retinal hole formation in a patient with papillorenal syndrome. ( 25932727 )
2015
7
Association between graves' disease and renal coloboma syndrome: a case report. ( 23966757 )
2013
8
Papillorenal syndrome in a family with unusual complications. ( 23686327 )
2013
9
Renal coloboma syndrome associated with double- chambered right ventricle. ( 23443859 )
2013
10
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). ( 24032291 )
2013
11
Successful ABO-Incompatible Living-Donor Renal Transplant Without Splenectomy For Renal Coloboma Syndrome: A Case Report. ( 23902562 )
2013
12
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. ( 22213154 )
2012
13
Alport-like glomerular basement membrane changes with renal-coloboma syndrome. ( 22350371 )
2012
14
Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. ( 22581475 )
2012
15
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation. ( 22660956 )
2012
16
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. ( 22361651 )
2012
17
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. ( 21326282 )
2011
18
Renal coloboma syndrome. ( 21654726 )
2011
19
A surviving case of papillorenal syndrome with the phenotype of Potter sequence. ( 21696512 )
2011
20
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. ( 20221250 )
2010
21
Papillorenal syndrome after Beta-interferon treatment in pregnancy. ( 19839859 )
2009
22
A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. ( 19954729 )
2009
23
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. ( 18609495 )
2008
24
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. ( 28221651 )
2008
25
Diagnosing papillorenal syndrome: see the optic papilla. ( 18512081 )
2008
26
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. ( 17269592 )
2007
27
A clinico-genetic study of renal coloboma syndrome in children. ( 17541647 )
2007
28
Abnormal optic discs and renal failure: papillorenal syndrome. ( 17083547 )
2006
29
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. ( 15808183 )
2005
30
Early diagnosis of the papillorenal syndrome by optic disc morphology. ( 16148630 )
2005
31
Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk. ( 14747376 )
2004
32
Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. ( 14569086 )
2003
33
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. ( 14566649 )
2003
34
Multifocal visual evoked potentials and multifocal electroretinograms in papillorenal syndrome. ( 12049607 )
2002
35
[Renal-coloboma syndrome]. ( 12410411 )
2002
36
Papillorenal syndrome in a Brazilian family. ( 12470164 )
2002
37
Renal-coloboma syndrome in a Brazilian family. ( 11594973 )
2001
38
Renal coloboma syndrome. ( 11581073 )
2001
39
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. ( 11297491 )
2001
40
Renal-coloboma syndrome: report of a novel PAX2 gene mutation. ( 11730657 )
2001
41
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. ( 11241473 )
2001
42
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. ( 11093271 )
2000
43
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. ( 10533062 )
1999
44
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. ( 10466411 )
1999
45
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). ( 9760197 )
1998
46
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. ( 9106533 )
1997
47
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. ( 8943028 )
1996
48
Mutation of PAX2 in two siblings with renal-coloboma syndrome. ( 8589702 )
1995
49
Renal Coloboma Syndrome ( 20301624 )
1993

Variations for Papillorenal Syndrome

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

75 (show all 17)
# 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 rs893370744
17 PAX2 p.Thr329Ala VAR_071947

ClinVar genetic disease variations for Papillorenal Syndrome:

6
(show all 31)
# 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.561delC (p.Asn188Metfs) deletion Pathogenic rs77777862 GRCh38 Chromosome 10, 100781310: 100781310
3 PAX2 NM_003990.4(PAX2): c.130_151del22 (p.Leu44Profs) deletion Pathogenic rs76675173 GRCh37 Chromosome 10, 102509589: 102509610
4 PAX2 NM_003990.4(PAX2): c.130_151del22 (p.Leu44Profs) deletion Pathogenic rs76675173 GRCh38 Chromosome 10, 100749832: 100749853
5 PAX2 PAX2, 6-BP DEL deletion Pathogenic
6 PAX2 NM_003990.4(PAX2): c.226G> A (p.Gly76Ser) single nucleotide variant Pathogenic rs79555199 GRCh37 Chromosome 10, 102510464: 102510464
7 PAX2 NM_003990.4(PAX2): c.226G> A (p.Gly76Ser) single nucleotide variant Pathogenic rs79555199 GRCh38 Chromosome 10, 100750707: 100750707
8 PAX2 NM_000278.3(PAX2): c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) duplication Pathogenic rs387906530 GRCh37 Chromosome 10, 102510459: 102510464
9 PAX2 NM_000278.3(PAX2): c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) duplication Pathogenic rs387906530 GRCh38 Chromosome 10, 100750702: 100750707
10 PAX2 NM_003990.4(PAX2): c.76delG (p.Val26Cysfs) deletion Pathogenic rs75462234 GRCh37 Chromosome 10, 102509535: 102509535
11 PAX2 NM_003990.4(PAX2): c.76delG (p.Val26Cysfs) deletion Pathogenic rs75462234 GRCh38 Chromosome 10, 100749778: 100749778
12 PAX2 NM_003990.4(PAX2): c.75_76dupGG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh37 Chromosome 10, 102509534: 102509535
13 PAX2 NM_003990.4(PAX2): c.75_76dupGG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh38 Chromosome 10, 100749777: 100749778
14 PAX2 NM_003990.4(PAX2): c.1023C> A (p.Tyr341Ter) single nucleotide variant Pathogenic rs78122364 GRCh37 Chromosome 10, 102584439: 102584439
15 PAX2 NM_003990.4(PAX2): c.1023C> A (p.Tyr341Ter) single nucleotide variant Pathogenic rs78122364 GRCh38 Chromosome 10, 100824682: 100824682
16 PAX2 NM_000278.4(PAX2): c.706C> T (p.Gln236Ter) single nucleotide variant Pathogenic rs75399846 GRCh38 Chromosome 10, 100806519: 100806519
17 PAX2 NM_000278.4(PAX2): c.706C> T (p.Gln236Ter) single nucleotide variant Pathogenic rs75399846 GRCh37 Chromosome 10, 102566276: 102566276
18 PAX2 NM_003990.4(PAX2): c.76dupG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh38 Chromosome 10, 100749778: 100749778
19 PAX2 NM_003990.4(PAX2): c.76dupG (p.Val26Glyfs) duplication Pathogenic rs77453353 GRCh37 Chromosome 10, 102509535: 102509535
20 PAX2 NM_000278.4(PAX2): c.909A> C (p.Pro303=) single nucleotide variant Benign rs1800898 GRCh38 Chromosome 10, 100809226: 100809226
21 PAX2 NM_000278.4(PAX2): c.909A> C (p.Pro303=) single nucleotide variant Benign rs1800898 GRCh37 Chromosome 10, 102568983: 102568983
22 PAX2 NM_003988.4(PAX2): c.1102A> T (p.Thr368Ser) single nucleotide variant Uncertain significance rs606231415 GRCh38 Chromosome 10, 100824982: 100824982
23 PAX2 NM_003988.4(PAX2): c.1102A> T (p.Thr368Ser) single nucleotide variant Uncertain significance rs606231415 GRCh37 Chromosome 10, 102584739: 102584739
24 PAX2 NM_003990.4(PAX2): c.1160G> A (p.Ser387Asn) single nucleotide variant Uncertain significance rs138490772 GRCh38 Chromosome 10, 100827078: 100827078
25 PAX2 NM_003990.4(PAX2): c.1160G> A (p.Ser387Asn) single nucleotide variant Uncertain significance rs138490772 GRCh37 Chromosome 10, 102586835: 102586835
26 PAX2 NM_003988.4(PAX2): c.239C> T (p.Pro80Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 102510477: 102510477
27 PAX2 NM_003988.4(PAX2): c.239C> T (p.Pro80Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 100750720: 100750720
28 PAX2 NM_003988.4(PAX2): c.740G> A (p.Arg247His) single nucleotide variant Uncertain significance rs747639879 GRCh37 Chromosome 10, 102566310: 102566310
29 PAX2 NM_003988.4(PAX2): c.740G> A (p.Arg247His) single nucleotide variant Uncertain significance rs747639879 GRCh38 Chromosome 10, 100806553: 100806553
30 PAX2 NM_003988.4(PAX2): c.867C> G (p.Asn289Lys) single nucleotide variant Likely benign rs199724772 GRCh37 Chromosome 10, 102568941: 102568941
31 PAX2 NM_003988.4(PAX2): c.867C> G (p.Asn289Lys) single nucleotide variant Likely benign rs199724772 GRCh38 Chromosome 10, 100809184: 100809184

Copy number variations for Papillorenal Syndrome from CNVD:

7
# 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

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 OTX1 PAX2 PAX6 SALL4
2 axonogenesis GO:0007409 9.48 PAX2 PAX6
3 anterior/posterior pattern specification GO:0009952 9.46 OTX1 PAX6
4 neural tube closure GO:0001843 9.43 PAX2 SALL4
5 forebrain development GO:0030900 9.4 OTX1 PAX6
6 inner ear morphogenesis GO:0042472 9.37 OTX1 PAX2
7 camera-type eye development GO:0043010 9.32 PAX2 PAX6
8 transcription by RNA polymerase II GO:0006366 9.26 OTX1 PAX2 PAX6 SALL4
9 cell fate determination GO:0001709 9.16 PAX2 PAX6
10 multicellular organism development GO:0007275 9.1 GCNT2 KIF26B OTX1 PAX2 PAX6 SALL4

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.46 OTX1 PAX2 PAX6 SALL4
2 sequence-specific DNA binding GO:0043565 9.43 OTX1 PAX6 SALL4
3 transcription factor binding GO:0008134 9.13 PAX2 PAX6 SALL4
4 transcription regulatory region DNA binding GO:0044212 8.8 PAX2 PAX6 SALL4

Sources for Papillorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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