Pax2-Related Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PX2001 MIFTS: 15	Pax2-Related Disorder Categories: Nephrological diseases
Genes Tissues Related diseases Publications Collapse all tables

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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:

MalaCards categories:
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁰ C1852759

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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

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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
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:

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Symptoms & Phenotypes for Pax2-Related Disorder

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Drugs & Therapeutics for Pax2-Related Disorder

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

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Genetic Tests for Pax2-Related Disorder

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Anatomical Context for Pax2-Related Disorder

MalaCards organs/tissues related to Pax2-Related Disorder:

⁴⁰

Eye, Retina

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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	Barua M...Pollak MR	24676634	2014
2	Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. ⁶¹ ²⁵	Bower M...Heidet L	22213154	2012
3	PAX2 mutations in fetal renal hypodysplasia. ²⁵ ⁶¹	Martinovic-Bouriel J...Gubler MC	20358591	2010
4	Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. ⁶¹ ²⁵	Azuma N...Yamada M	12721955	2003
5	Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. ²⁵ ⁶¹	Parsa CF...Hunter DG	11297491	2001
6	Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. ²⁵	Heidet L...Jeanpierre C	28566479	2017
7	Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. ²⁵	Pfundt R...Hehir-Kwa JY	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	Peltekova IT...Armour CM	25257335	2014
9	Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification. ²⁵	Karger AB...Thyagarajan B	23756089	2013
10	A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. ²⁵	Hoefele J...Kunstmann E	22361651	2012
11	Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT). ²⁵	Renkema KY...EUCAKUT consortium	22121240	2011
12	Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. ²⁵	Raca G...Schimmenti LA	21285886	2011
13	A clinico-genetic study of renal coloboma syndrome in children. ²⁵	Cheong HI...Choi Y	17541647	2007
14	Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. ²⁵	Benetti E...Murer L	17403695	2007
15	Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. ²⁵	Weber S...Salomon R	16971658	2006
16	Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. ²⁵	Fletcher J...Alexander SI	16049068	2005
17	Best cases from the AFIP: intrarenal teratoma. ²⁵	Choi DJ...Baiyee D	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	Schimmenti LA...Sieving PA	14566649	2003
19	Renal-coloboma syndrome: report of a novel PAX2 gene mutation. ²⁵	Chung GW...Ritter R	11730657	2001
20	Renal coloboma syndrome. ²⁵	Dureau P...Dufier JL	11581073	2001
21	PAX2 gene mutation in a family with isolated renal hypoplasia. ²⁵	Nishimoto K...Yoshikawa N	11461952	2001
22	[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure]. ²⁵	Sikora P...Niedzielska G	11434182	2001
23	Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. ²⁵	Ford B...Friedman JM	11241473	2001
24	PAX2 mutations in oligomeganephronia. ²⁵	Salomon R...Broyer M	11168927	2001
25	PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. ²⁵	Amiel J...Attie-Bitach T	11093271	2000
26	PAX2 suppresses apoptosis in renal collecting duct cells. ²⁵	Torban E...Goodyer PR	10980123	2000
27	Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome. ²⁵	Tellier AL...Attie-Bitach T	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	Porteous S...Eccles M	10587573	2000
29	Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. ²⁵	Schimmenti LA...Dobyns WB	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	Narahara K...Richards RI	9132492	1997
31	Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. ²⁵	Schimmenti LA...Dobyns WB	8588587	1995
32	Mutation of PAX2 in two siblings with renal-coloboma syndrome. ²⁵	Sanyanusin P...Eccles MR	8589702	1995
33	Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. ²⁵	Sanyanusin P...Eccles MR	7795640	1995
34	[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome]. ⁶¹	Zhao X...Shi M	32820507	2020
35	A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features. ⁶¹	Oh SH...Kim T	33067217	2020
36	[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome]. ⁶¹	Li J...Lyu Y	32761592	2020
37	Papillorenal Syndrome With Macular Retinoschisis and Subretinal Fluid. ⁶¹	Wibbelsman TD...Garg SJ	32789520	2020
38	Clinical and genetic variability of PAX2-related disorder in the Japanese population. ⁶¹	Rossanti R...Iijima K	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	Saida K...Ito S	31538321	2020
40	A new mutation in the PAX2 gene in a Papillorenal Syndrome patient. ⁶¹	Rachwani Anil R...Contreras ME	31692565	2019
41	Diverse phenotypes in children with PAX2-related disorder. ⁶¹	Deng H...Ding J	31060108	2019
42	Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. ⁶¹	Yahalom C...Blumenfeld A	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	Liu J...Yu Z	29054766	2018
44	Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome. ⁶¹	Galvez-Ruiz A...Schatz P	29339962	2017
45	Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome. ⁶¹	Rahimy E...Rahimy E	27107352	2016
46	PERIPHERAL AVASCULAR RETINA WITH DISK ANOMALY AND HIGH MYOPIA: A Novel Association in a Hereditary Isolated Ocular Disorder. ⁶¹	Habib AM...Abd El-Salam MM	26225485	2016
47	Retinoschisis and outer retinal hole formation in a patient with papillorenal syndrome. ⁶¹	Droms RJ...Duker JS	25932727	2015
48	Optic disc dysplasia in poland syndrome. ⁶¹	Maxfield SD...Strominger MB	23647425	2014
49	Papillorenal syndrome in a family with unusual complications. ⁶¹	Megaw RD...Wright AF	23686327	2013
50	Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). ⁶¹	Aydin B...Okumus N	24032291	2013
51	PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies. ⁶¹	Negrisolo S...Artifoni L	21108633	2011
52	Renal coloboma syndrome. ⁶¹	Schimmenti LA	21654726	2011
53	Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. ⁶¹	Bower M...Schimmenti LA	21326282	2011
54	A surviving case of papillorenal syndrome with the phenotype of Potter sequence. ⁶¹	Fujioka K...Matsuo M	21696512	2011
55	The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype. ⁶¹	Cross SH...Jackson IJ	20943750	2011
56	Bilateral Optic Disc Anomalies Associated with PAX2 Mutation in a Case of Potter Sequence. ⁶¹	Tagami M...Negi A	21151632	2010
57	Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. ⁶¹	Alur RP...Brooks BP	20221250	2010
58	Papillorenal syndrome after Beta-interferon treatment in pregnancy. ⁶¹	Gucev ZS...Tasic V	19839859	2009
59	Diagnosing papillorenal syndrome: see the optic papilla. ⁶¹	Parsa CF...Parsa A	18512081	2008
60	Cavitary anomalies of the optic disc: neurologic significance. ⁶¹	Golnik KC	18713577	2008
61	Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. ⁶¹	Samimi S...Korobelnik JF	18609495	2008
62	Optic nerve axon number in mouse is regulated by PAX2. ⁶¹	Alur RP...Brooks BP	18083586	2008
63	PAX2-Related Disorder ⁶¹	Bower MA...Eccles MR	20301624	2007
64	Abnormal optic discs and renal failure: papillorenal syndrome. ⁶¹	Nguyen D...Riordan-Eva P	17083547	2006
65	Early diagnosis of the papillorenal syndrome by optic disc morphology. ⁶¹	Khan AO...Nowilaty SR	16148630	2005
66	De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. ⁶¹	Yoshimura K...Ishibashi T	15808183	2005
67	Papillorenal syndrome in a Brazilian family. ⁶¹	Parsa CF...Hunter DG	12470164	2002
68	[Renal-coloboma syndrome]. ⁶¹	Asensio Sanchez VM...De Paz Garcia M	12410411	2002
69	Multifocal visual evoked potentials and multifocal electroretinograms in papillorenal syndrome. ⁶¹	Chen CS...Hood DC	12049607	2002

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Genes for Pax2-Related Disorder

Genes related to Pax2-Related Disorder (0 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PAX2	Paired Box 2	Protein Coding	7.36	GeneCards inferred via : Publications (show sections)

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Variations for Pax2-Related Disorder

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Expression for Pax2-Related Disorder

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

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Pathways for Pax2-Related Disorder

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GO Terms for Pax2-Related Disorder

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