MCID: PX2001
MIFTS: 13

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 74
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 74 C1852759

Summaries for Pax2-Related Disorder

MalaCards based summary : Pax2-Related Disorder, also known as papillorenal syndrome, is related to papillorenal syndrome and congenital anomalies of kidney and urinary tract 1. Affiliated tissues include eye and kidney.

GeneReviews: NBK1451

Related Diseases for Pax2-Related Disorder

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

# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 12.7
2 congenital anomalies of kidney and urinary tract 1 11.2
3 oligomeganephronia 11.1
4 coloboma of macula 10.2
5 retinoschisis 1, x-linked, juvenile 10.1
6 renal hypoplasia 9.9
7 graves' disease 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:

42
Eye, Kidney

Publications for Pax2-Related Disorder

Articles related to Pax2-Related Disorder:

(show all 18)
# 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 PAX2 Gene Mutations in Patients with Papillorenal Syndrome. ( 29339962 )
2017
3
Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome. ( 27107352 )
2016
4
Retinoschisis and outer retinal hole formation in a patient with papillorenal syndrome. ( 25932727 )
2015
5
Papillorenal syndrome in a family with unusual complications. ( 23686327 )
2013
6
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). ( 24032291 )
2013
7
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. ( 21326282 )
2011
8
A surviving case of papillorenal syndrome with the phenotype of Potter sequence. ( 21696512 )
2011
9
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. ( 20221250 )
2010
10
Papillorenal syndrome after Beta-interferon treatment in pregnancy. ( 19839859 )
2009
11
Diagnosing papillorenal syndrome: see the optic papilla. ( 18512081 )
2008
12
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. ( 18609495 )
2008
13
Abnormal optic discs and renal failure: papillorenal syndrome. ( 17083547 )
2006
14
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. ( 15808183 )
2005
15
Early diagnosis of the papillorenal syndrome by optic disc morphology. ( 16148630 )
2005
16
Multifocal visual evoked potentials and multifocal electroretinograms in papillorenal syndrome. ( 12049607 )
2002
17
Papillorenal syndrome in a Brazilian family. ( 12470164 )
2002
18
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. ( 11297491 )
2001

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
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10 dbSNP
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20 FMA
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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