MCID: PX2001
MIFTS: 15

Pax2-Related Disorder

Categories: Nephrological diseases

Aliases & Classifications for Pax2-Related Disorder

MalaCards integrated aliases for Pax2-Related Disorder:

Name: Pax2-Related Disorder 25
Papillorenal Syndrome 25 70
Renal Coloboma Syndrome 25

Characteristics:

GeneReviews:

25
Penetrance Only one individual with a pathogenic variant in pax2 in whom renal and ophthalmologic examinations were performed and documented as 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:



External Ids:

UMLS 70 C1852759

Summaries for Pax2-Related Disorder

MalaCards based summary : Pax2-Related Disorder, also known as papillorenal syndrome, is related to oligomeganephronia and cakut. An important gene associated with Pax2-Related Disorder is PAX2 (Paired Box 2). Affiliated tissues include eye and retina.

GeneReviews: NBK1451

Related Diseases for Pax2-Related Disorder

Diseases related to Pax2-Related Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 54, show less)
# Related Disease Score Top Affiliating Genes
1 oligomeganephronia 11.1
2 cakut 11.1
3 congenital anomalies of kidney and urinary tract 1 11.0
4 cavitary optic disc anomalies 11.0
5 end stage renal disease 10.2
6 coloboma of macula 10.1
7 papillorenal syndrome 10.1
8 focal segmental glomerulosclerosis 10.1
9 chronic kidney disease 10.1
10 retinoschisis 1, x-linked, juvenile 10.1
11 microphthalmia 10.1
12 teratoma, ovarian 10.0
13 retinal detachment 10.0
14 vesicoureteral reflux 1 10.0
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
16 proteinuria, chronic benign 10.0
17 renal hypoplasia 10.0
18 sensorineural hearing loss 10.0
19 microcephaly 10.0
20 gout 10.0
21 ventricular septal defect 10.0
22 heart septal defect 10.0
23 teratoma 10.0
24 ovarian germ cell teratoma 10.0
25 nephrolithiasis 10.0
26 branchiootic syndrome 1 9.9
27 glaucoma, normal tension 9.9
28 pyelonephritis 9.9
29 myopia 9.9
30 oligohydramnios 9.9
31 kidney disease 9.9
32 central serous chorioretinopathy 9.9
33 optic disc pit 9.9
34 coloboma, ocular, autosomal dominant 9.9
35 optic nerve hypoplasia, bilateral 9.9
36 strabismus 9.9
37 corneal dystrophy, band-shaped 9.9
38 abnormal hair, joint laxity, and developmental delay 9.9
39 astigmatism 9.9
40 cytomegalovirus retinitis 9.9
41 x-linked alport syndrome 9.9
42 neuroretinitis 9.9
43 hydrocephalus 9.9
44 alport syndrome 9.9
45 scleral staphyloma 9.9
46 graves' disease 9.9
47 epilepsy 9.9
48 keratopathy 9.9
49 acute kidney failure 9.9
50 retinitis 9.9
51 eye disease 9.9
52 mechanical strabismus 9.9
53 retinochoroidal coloboma 9.9
54 renal dysplasia 9.9

Graphical network of the top 20 diseases related to Pax2-Related Disorder:



Diseases related to Pax2-Related Disorder

Symptoms & Phenotypes for Pax2-Related Disorder

Drugs & Therapeutics for Pax2-Related Disorder

Search Clinical Trials , NIH Clinical Center for Pax2-Related Disorder

Genetic Tests for Pax2-Related Disorder

Anatomical Context for Pax2-Related Disorder

MalaCards organs/tissues related to Pax2-Related Disorder:

40
Eye, Retina

Publications for Pax2-Related Disorder

Articles related to Pax2-Related Disorder:

(showing 69, show less)
# Title Authors PMID Year
1
Mutations in PAX2 associate with adult-onset FSGS. 61 25
24676634 2014
2
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. 61 25
22213154 2012
3
PAX2 mutations in fetal renal hypodysplasia. 25 61
20358591 2010
4
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 61 25
12721955 2003
5
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. 25 61
11297491 2001
6
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 25
28566479 2017
7
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. 25
28574513 2017
8
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys. 25
25257335 2014
9
Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification. 25
23756089 2013
10
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. 25
22361651 2012
11
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). 25
22121240 2011
12
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. 25
21285886 2011
13
A clinico-genetic study of renal coloboma syndrome in children. 25
17541647 2007
14
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. 25
17403695 2007
15
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 25
16971658 2006
16
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 25
16049068 2005
17
Best cases from the AFIP: intrarenal teratoma. 25
15798064 2005
18
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. 25
14566649 2003
19
Renal-coloboma syndrome: report of a novel PAX2 gene mutation. 25
11730657 2001
20
Renal coloboma syndrome. 25
11581073 2001
21
PAX2 gene mutation in a family with isolated renal hypoplasia. 25
11461952 2001
22
[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure]. 25
11434182 2001
23
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. 25
11241473 2001
24
PAX2 mutations in oligomeganephronia. 25
11168927 2001
25
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. 25
11093271 2000
26
PAX2 suppresses apoptosis in renal collecting duct cells. 25
10980123 2000
27
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. 25
10869107 2000
28
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. 25
10587573 2000
29
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. 25
10533062 1999
30
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. 25
9132492 1997
31
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. 25
8588587 1995
32
Mutation of PAX2 in two siblings with renal-coloboma syndrome. 25
8589702 1995
33
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. 25
7795640 1995
34
[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome]. 61
32820507 2020
35
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features. 61
33067217 2020
36
[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome]. 61
32761592 2020
37
Papillorenal Syndrome With Macular Retinoschisis and Subretinal Fluid. 61
32789520 2020
38
Clinical and genetic variability of PAX2-related disorder in the Japanese population. 61
32203253 2020
39
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease. 61
31538321 2020
40
A new mutation in the PAX2 gene in a Papillorenal Syndrome patient. 61
31692565 2019
41
Diverse phenotypes in children with PAX2-related disorder. 61
31060108 2019
42
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. 61
29781739 2018
43
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. 61
29054766 2018
44
Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome. 61
29339962 2017
45
Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome. 61
27107352 2016
46
PERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a Hereditary Isolated Ocular Disorder. 61
26225485 2016
47
Retinoschisis and outer retinal hole formation in a patient with papillorenal syndrome. 61
25932727 2015
48
Optic disc dysplasia in poland syndrome. 61
23647425 2014
49
Papillorenal syndrome in a family with unusual complications. 61
23686327 2013
50
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). 61
24032291 2013
51
PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies. 61
21108633 2011
52
Renal coloboma syndrome. 61
21654726 2011
53
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. 61
21326282 2011
54
A surviving case of papillorenal syndrome with the phenotype of Potter sequence. 61
21696512 2011
55
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype. 61
20943750 2011
56
Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence. 61
21151632 2010
57
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. 61
20221250 2010
58
Papillorenal syndrome after Beta-interferon treatment in pregnancy. 61
19839859 2009
59
Diagnosing papillorenal syndrome: see the optic papilla. 61
18512081 2008
60
Cavitary anomalies of the optic disc: neurologic significance. 61
18713577 2008
61
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. 61
18609495 2008
62
Optic nerve axon number in mouse is regulated by PAX2. 61
18083586 2008
63
PAX2-Related Disorder 61
20301624 2007
64
Abnormal optic discs and renal failure: papillorenal syndrome. 61
17083547 2006
65
Early diagnosis of the papillorenal syndrome by optic disc morphology. 61
16148630 2005
66
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. 61
15808183 2005
67
Papillorenal syndrome in a Brazilian family. 61
12470164 2002
68
[Renal-coloboma syndrome]. 61
12410411 2002
69
Multifocal visual evoked potentials and multifocal electroretinograms in papillorenal syndrome. 61
12049607 2002

Variations for Pax2-Related Disorder

Expression for Pax2-Related Disorder

Search GEO for disease gene expression data for Pax2-Related Disorder.

Pathways for Pax2-Related Disorder

GO Terms for Pax2-Related Disorder

Sources for Pax2-Related Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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