PAPRS
MCID: PPL048
MIFTS: 62

Papillorenal Syndrome (PAPRS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Papillorenal Syndrome

MalaCards integrated aliases for Papillorenal Syndrome:

Name: Papillorenal Syndrome 57 11 19 42 73 38 71 75
Renal Coloboma Syndrome 11 19 42 58 28 5 14
Coloboma of Optic Nerve with Renal Disease 57 11 19 42 58 73
Optic Nerve Coloboma with Renal Disease 57 19 73 12
Renal-Coloboma Syndrome 57 42 73 53
Congenital Anomalies of the Kidney and Urinary Tract with or Without Ocular Abnormalities 57 11 73
Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies 57 19 42
Renal-Coloboma Syndrome with Macular Abnormalities 57 11 73
Cakut with or Without Ocular Abnormalities 57 11 73
Paprs 57 73
Papillo-Renal Syndrome, Optic Nerve Coloboma with Renal Disease 11
Optic Coloboma, Vesicoureteral Reflux and Renal Anomalies 11
Optic Coloboma Vesicoureteral Reflux and Renal Anomalies 73
Optic Nerve Coloboma Renal Syndrome 42
Coloboma-Ureteral-Renal Syndrome 42
Papillo-Renal Syndrome 58
Oncr 42
Rcs 42

Characteristics:


Inheritance:

Papillorenal Syndrome: Autosomal dominant 57
Renal Coloboma Syndrome: Autosomal dominant 58

Age Of Onset:

Renal Coloboma Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Papillorenal Syndrome

OMIM®: 57 Papillorenal syndrome (PAPRS) 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) (Updated 08-Dec-2022)

MalaCards based summary: Papillorenal Syndrome, also known as renal coloboma syndrome, is related to coloboma of optic nerve and scleral staphyloma. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Nervous system development and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and retina, and related phenotypes are renal insufficiency and optic nerve dysplasia

MedlinePlus Genetics: 42 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.Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision.Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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 genetic changes in the PAX2 gene. In about half of cases, the underlying cause can not be determined.

Disease Ontology: 11 A syndrome characterized by optic nerve coloboma and renal disease that has material basis in heterozygous mutation in the PAX2 gene on chromosome 10q24.

Orphanet: 58 A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

Wikipedia: 75 Papillorenal syndrome is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia)... more...

Related Diseases for Papillorenal Syndrome

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

(show top 50) (show all 208)
# Related Disease Score Top Affiliating Genes
1 coloboma of optic nerve 30.6 PAX6 PAX2 CRYAA
2 scleral staphyloma 30.4 PAX2 CRYAA
3 end stage renal disease 30.2 ROBO2 PAX2 COL4A4 COL4A3
4 keratitis, hereditary 30.1 PAX6 PAX2 CRYAA
5 retinochoroidal coloboma 30.1 PAX6 CHD7
6 coloboma, ocular, autosomal dominant 30.1 PAX6 PAX2
7 glaucoma, primary open angle 30.1 SIX1 PAX6 CRYAA
8 oligomeganephronia 30.0 SALL1 PAX2 HNF1B EYA1
9 esotropia 30.0 PAX6 CRYAA CHD7
10 coloboma of iris 29.9 PAX6 CHD7
11 focal segmental glomerulosclerosis 29.8 PAX2 EYA1 COL4A4 COL4A3
12 renal hypoplasia 29.6 SIX5 SIX2 SIX1 SALL1 ROBO2 PAX2
13 oligohydramnios 29.6 PAX2 HNF1B FREM2 FRAS1
14 microphthalmia 29.5 SALL1 PAX6 PAX2 EYA1 CRYAA BMP4
15 alport syndrome 29.5 PAX2 EYA1 CRYAA COL4A4 COL4A3
16 strabismus 29.3 PAX6 CRYAA CHD7 BMP4
17 sensorineural hearing loss 29.3 PAX2 EYA1 COL4A4 COL4A3 CHD7
18 kidney disease 29.2 SIX1 PAX2 HNF1B EYA1 COL4A4 COL4A3
19 coloboma of macula 28.8 SIX1 SALL1 PAX6 PAX2 FREM2 FRAS1
20 eye disease 28.5 PAX6 GDNF CRYAA CHD7 BMP4
21 cataract 28.4 SIX5 PAX6 PAX2 EYA1 CRYAA COL4A4
22 cakut 28.3 UPK3A SIX5 SIX2 SIX1 SALL1 ROBO2
23 vesicoureteral reflux 27.4 UPK3A SIX5 SIX2 SIX1 SALL1 ROBO2
24 pax2-related disorder 11.3
25 congenital anomalies of kidney and urinary tract 1 11.1
26 peripheral retinal degeneration 10.8
27 retinal degeneration 10.8
28 retinitis pigmentosa 10.6
29 fundus dystrophy 10.6
30 inherited retinal disorder 10.6
31 branchiootic syndrome 1 10.3 SIX1 EYA1
32 eustachian tube disease 10.3 SIX5 EYA1
33 retinal disease 10.3
34 ureterocele 10.3 ROBO2 PAX2
35 nephrogenic adenoma 10.3 UPK3A PAX2
36 lacrimal duct obstruction 10.3 SIX5 EYA1
37 congenital aphakia 10.3 PAX6 CRYAA
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
39 hypoparathyroidism-deafness-renal disease syndrome 10.2 PAX2 EYA1
40 patulous eustachian tube 10.2 SIX5 SIX1 EYA1
41 bladder clear cell adenocarcinoma 10.2 UPK3A PAX2
42 sarcoma 10.2
43 deafness, autosomal dominant 10 10.2 SIX5 SIX1 EYA1
44 intellectual developmental disorder, x-linked, syndromic, wilson-turner type 10.2 SIX2 SIX1 PAX2
45 leukocoria 10.2 PAX6 CRYAA
46 persistent hyperplastic primary vitreous 10.2 PAX6 PAX2 CRYAA
47 medullary sponge kidney 10.2 HNF1B GDNF
48 focal segmental glomerulosclerosis 7 10.2
49 fallopian tube endometrioid adenocarcinoma 10.2 PAX2 HNF1B
50 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.2 PAX2 HNF1B

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



Diseases related to Papillorenal Syndrome

Symptoms & Phenotypes for Papillorenal Syndrome

Human phenotypes related to Papillorenal Syndrome:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000083
2 optic nerve dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001093
3 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
4 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
5 vesicoureteral reflux 58 30 Very rare (1%) Frequent (79-30%)
HP:0000076
6 renal hypoplasia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000089
7 multicystic kidney dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000003
8 renal dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000110
9 nystagmus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000639
10 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
11 strabismus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000486
12 joint hyperflexibility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005692
13 retinal coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000480
14 cataract 30 Occasional (7.5%) HP:0000518
15 horseshoe kidney 30 Occasional (7.5%) HP:0000085
16 nephrolithiasis 30 Occasional (7.5%) HP:0000787
17 lens luxation 30 Occasional (7.5%) HP:0012019
18 retinal detachment 30 Occasional (7.5%) HP:0000541
19 macular degeneration 30 Occasional (7.5%) HP:0000608
20 edema 30 Occasional (7.5%) HP:0000969
21 renal malrotation 30 Occasional (7.5%) HP:0004712
22 macular hyperpigmentation 30 Occasional (7.5%) HP:0011509
23 optic disc coloboma 30 Very rare (1%) HP:0000588
24 scoliosis 30 Very rare (1%) HP:0002650
25 hypertension 30 Very rare (1%) HP:0000822
26 sensorineural hearing impairment 30 Very rare (1%) HP:0000407
27 short stature 30 Very rare (1%) HP:0004322
28 hematuria 30 Very rare (1%) HP:0000790
29 reduced visual acuity 30 Very rare (1%) HP:0007663
30 stage 5 chronic kidney disease 30 Very rare (1%) HP:0003774
31 chronic kidney disease 30 Very rare (1%) HP:0012622
32 high myopia 30 Very rare (1%) HP:0011003
33 mild proteinuria 30 Very rare (1%) HP:0012595
34 elevated circulating creatinine concentration 30 Very rare (1%) HP:0003259
35 absence of renal corticomedullary differentiation 30 Very rare (1%) HP:0005564
36 scleral staphyloma 30 Very rare (1%) HP:0030854
37 intellectual disability 30 HP:0001249
38 seizure 30 HP:0001250
39 proteinuria 30 HP:0000093
40 joint laxity 30 HP:0001388
41 microphthalmia 30 HP:0000568
42 hyperextensible skin 30 HP:0000974
43 optic nerve coloboma 58 Occasional (29-5%)
44 soft skin 30 HP:0000977
45 chiari type i malformation 30 HP:0007099
46 gliosis 30 HP:0002171
47 chorioretinal atrophy 30 HP:0000533
48 morning glory anomaly 30 HP:0025514
49 orbital cyst 30 HP:0001144

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
proteinuria

Head And Neck Eyes:
microphthalmia
optic nerve coloboma
retinal coloboma
chorioretinal degeneration
optic disc dysplasia
more
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

Skeletal:
joint laxity

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Papillorenal Syndrome:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.41 BMP4 COL4A3 COL4A4 EYA1 FRAS1 FREM2
2 growth/size/body region MP:0005378 10.34 BMP4 CHD7 COL4A3 COL4A4 EYA1 FRAS1
3 cellular MP:0005384 10.25 BMP4 CHD7 COL4A3 CRYAA EYA1 FRAS1
4 digestive/alimentary MP:0005381 10.23 BMP4 CHD7 COL4A4 EYA1 FRAS1 GDNF
5 muscle MP:0005369 10.22 BMP4 CHD7 EYA1 FREM2 GDNF HNF1B
6 hearing/vestibular/ear MP:0005377 10.21 BMP4 CHD7 COL4A3 COL4A4 EYA1 FREM2
7 embryo MP:0005380 10.18 BMP4 CHD7 EYA1 FREM2 HNF1B PAX2
8 cardiovascular system MP:0005385 10.18 BMP4 CHD7 COL4A3 EYA1 FRAS1 FREM2
9 craniofacial MP:0005382 10.03 BMP4 CHD7 EYA1 FRAS1 FREM2 PAX6
10 reproductive system MP:0005389 9.96 BMP4 CHD7 EYA1 FREM2 GDNF PAX2
11 respiratory system MP:0005388 9.92 BMP4 CHD7 EYA1 FRAS1 FREM2 PAX6
12 skeleton MP:0005390 9.81 BMP4 CHD7 EYA1 FRAS1 FREM2 PAX6
13 vision/eye MP:0005391 9.73 BMP4 CHD7 COL4A3 COL4A4 CRYAA EYA1
14 mortality/aging MP:0010768 9.5 BMP4 CHD7 COL4A3 COL4A4 EYA1 FRAS1

Drugs & Therapeutics for Papillorenal Syndrome

Drugs for Papillorenal Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 1 1374853-91-4 254741536
2 Antineoplastic Agents, Immunological Phase 1
3 Liver Extracts Phase 1
4 Immunoglobulins Phase 1
5 Antibodies, Monoclonal Phase 1
6 Antibodies Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1, Open-Label, Multicenter, Dose Escalation and Expansion Study of ONCR-177, an Oncolytic Herpes Simplex Virus for Intratumoral Injection, Alone and in Combination With PD-1 Blockade in Adult Subjects With Advanced and/or Refractory Cutaneous, Subcutaneous or Metastatic Nodal Solid Tumors or With Liver Metastases of Solid Tumors Recruiting NCT04348916 Phase 1

Search 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 28 PAX2

Anatomical Context for Papillorenal Syndrome

Organs/tissues related to Papillorenal Syndrome:

MalaCards : Kidney, Eye, Retina, Skin, Brain, Liver, Spinal Cord
ODiseA: Kidney

Publications for Papillorenal Syndrome

Articles related to Papillorenal Syndrome:

(show top 50) (show all 216)
# Title Authors PMID Year
1
PAX2 gene mutation in a family with isolated renal hypoplasia. 53 62 57 5
11461952 2001
2
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. 53 62 57 5
11093271 2000
3
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. 53 62 57 5
10466411 1999
4
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. 53 62 57 5
10533062 1999
5
Mutation of PAX2 in two siblings with renal-coloboma syndrome. 53 62 57 5
8589702 1995
6
Mutations in PAX2 associate with adult-onset FSGS. 62 57 5
24676634 2014
7
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. 62 57 5
22213154 2012
8
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. 62 57 5
11241473 2001
9
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. 57 5
7795640 1995
10
Optic nerve coloboma associated with renal disease. 57 5
3377002 1988
11
PAX2 mutations in fetal renal hypodysplasia. 53 62 57
20358591 2010
12
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 53 62 57
16971658 2006
13
Renal-coloboma syndrome: report of a novel PAX2 gene mutation. 53 62 57
11730657 2001
14
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 53 62 57
9783702 1998
15
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). 53 62 5
9760197 1998
16
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. 53 62 5
9106533 1997
17
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. 53 62 5
8943028 1996
18
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort. 62 5
34696790 2021
19
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia. 62 5
32776440 2020
20
Clinical and genetic variability of PAX2-related disorder in the Japanese population. 62 5
32203253 2020
21
A new mutation in the PAX2 gene in a Papillorenal Syndrome patient. 62 5
31692565 2019
22
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature. 62 5
30241513 2018
23
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. 62 5
29054766 2018
24
Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2. 62 5
27226968 2016
25
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation. 62 57
22660956 2012
26
PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies. 62 57
21108633 2011
27
Renal coloboma syndrome. 62 57
21654726 2011
28
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. 62 5
20221250 2010
29
Papillorenal ("renal coloboma") syndrome. 62 57
12140054 2002
30
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. 62 57
11297491 2001
31
Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature. 62 57
2685703 1989
32
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 5
33532864 2022
33
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families. 5
31576025 2020
34
Diverse phenotypes in children with PAX2-related disorder. 5
31060108 2019
35
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms? 5
29973660 2018
36
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study. 5
30076350 2018
37
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 5
27657687 2017
38
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
39
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 5
24429398 2014
40
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. 57
21380624 2011
41
Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. 57
15652857 2005
42
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. 57
8588587 1995
43
Nature of renal involvement in the acro-renal-ocular syndrome. 57
2644560 1989
44
[The morning glory syndrome]. 57
552012 1979
45
[On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)]. 57
894968 1977
46
Bilateral renal agenesis with multiple congenital ocular anomalies. 57
826161 1976
47
Morning glory syndrome: unusual congenital optic disk anomaly. 57
5418855 1970
48
WNT5A is regulated by PAX2 and may be involved in blastemal predominant Wilms tumorigenesis. 53 62
19048125 2008
49
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. 53 62
18485342 2008
50
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. 53 62
18609495 2008

Variations for Papillorenal Syndrome

ClinVar genetic disease variations for Papillorenal Syndrome:

5 (show top 50) (show all 174)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX2 NM_000278.5(PAX2):c.561del (p.Asn188fs) DEL Pathogenic
13795 rs77777862 GRCh37: 10:102541067-102541067
GRCh38: 10:100781310-100781310
2 PAX2 NM_000278.5(PAX2):c.131_152del (p.Leu44fs) DEL Pathogenic
13797 rs76675173 GRCh37: 10:102509589-102509610
GRCh38: 10:100749832-100749853
3 PAX2 NM_000278.5(PAX2):c.75_76dup (p.Val26fs) DUP Pathogenic
13802 rs75462234 GRCh37: 10:102509528-102509529
GRCh38: 10:100749771-100749772
4 PAX2 NM_000278.5(PAX2):c.706C>T (p.Gln236Ter) SNV Pathogenic
156296 rs75399846 GRCh37: 10:102566276-102566276
GRCh38: 10:100806519-100806519
5 PAX2 NM_000278.5(PAX2):c.785C>A (p.Ser262Ter) SNV Pathogenic
1419850 GRCh37: 10:102566355-102566355
GRCh38: 10:100806598-100806598
6 PAX2 NM_000278.5(PAX2):c.483del (p.Gly162fs) DEL Pathogenic
1351546 GRCh37: 10:102539327-102539327
GRCh38: 10:100779570-100779570
7 PAX2 NC_000010.10:g.(?_102566167)_(102566382_?)del DEL Pathogenic
1073074 GRCh37: 10:102566167-102566382
GRCh38:
8 PAX2 NM_000278.5(PAX2):c.430C>T (p.Gln144Ter) SNV Pathogenic
1076561 GRCh37: 10:102539274-102539274
GRCh38: 10:100779517-100779517
9 PAX2 NM_000278.5(PAX2):c.685C>T (p.Arg229Ter) SNV Pathogenic
156294 rs76492282 GRCh37: 10:102566255-102566255
GRCh38: 10:100806498-100806498
10 PAX2 NM_000278.5(PAX2):c.756_792+4del DEL Pathogenic
1686004 GRCh37: 10:102566323-102566363
GRCh38: 10:100806566-100806606
11 PAX2 NM_000278.5(PAX2):c.76del (p.Val26fs) DEL Pathogenic
13801 rs75462234 GRCh37: 10:102509529-102509529
GRCh38: 10:100749772-100749772
12 PAX2 NM_000278.5(PAX2):c.250G>A (p.Gly84Ser) SNV Pathogenic
1072593 GRCh37: 10:102510488-102510488
GRCh38: 10:100750731-100750731
13 PAX2 NM_000278.5(PAX2):c.906C>A (p.Tyr302Ter) SNV Pathogenic
1072594 GRCh37: 10:102568980-102568980
GRCh38: 10:100809223-100809223
14 PAX2 NM_000278.5(PAX2):c.310C>T (p.Arg104Ter) SNV Pathogenic
1301902 GRCh37: 10:102510548-102510548
GRCh38: 10:100750791-100750791
15 PAX2 NM_000278.5(PAX2):c.239C>T (p.Pro80Leu) SNV Pathogenic
465775 rs1554856032 GRCh37: 10:102510477-102510477
GRCh38: 10:100750720-100750720
16 PAX2 NM_000278.5(PAX2):c.76dup (p.Val26fs) DUP Pathogenic
Pathogenic
156297 rs75462234 GRCh37: 10:102509528-102509529
GRCh38: 10:100749771-100749772
17 PAX2 NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter) SNV Pathogenic
13803 rs78122364 GRCh37: 10:102584439-102584439
GRCh38: 10:100824682-100824682
18 PAX2 NM_000278.5(PAX2):c.409A>T (p.Arg137Ter) SNV Pathogenic
1705469 GRCh37: 10:102510647-102510647
GRCh38: 10:100750890-100750890
19 PAX2 PAX2, 6-BP DEL DEL Pathogenic
13798 GRCh37:
GRCh38:
20 PAX2 NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) SNV Pathogenic
974490 rs1845412705 GRCh37: 10:102510581-102510581
GRCh38: 10:100750824-100750824
21 PAX2 NM_000278.5(PAX2):c.418C>T (p.Arg140Trp) SNV Pathogenic
1066591 GRCh37: 10:102539262-102539262
GRCh38: 10:100779505-100779505
22 PAX2 GRCh37/hg19 10q24.31(chr10:102568846-102589718) CN LOSS Pathogenic
1179209 GRCh37: 10:102568846-102589718
GRCh38:
23 PAX2 NM_000278.5(PAX2):c.497-1G>A SNV Pathogenic
974492 rs1846609262 GRCh37: 10:102541002-102541002
GRCh38: 10:100781245-100781245
24 PAX2 NM_000278.5(PAX2):c.493_495delinsTCTTCCCTGA (p.Ile165fs) INDEL Pathogenic
974491 rs1846531969 GRCh37: 10:102539337-102539339
GRCh38: 10:100779580-100779582
25 PAX2 NM_000278.5(PAX2):c.*7C>A SNV Pathogenic
974489 rs1848626159 GRCh37: 10:102587383-102587383
GRCh38: 10:100827626-100827626
26 PAX2 NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup) DUP Likely Pathogenic
Likely Pathogenic
13800 rs387906530 GRCh37: 10:102510456-102510457
GRCh38: 10:100750699-100750700
27 PAX2 NC_000010.10:g.(?_102510431)_(102510668_?)del DEL Likely Pathogenic
1068209 GRCh37: 10:102510431-102510668
GRCh38:
28 PAX2 NM_000278.5(PAX2):c.226G>A (p.Gly76Ser) SNV Likely Pathogenic
13799 rs79555199 GRCh37: 10:102510464-102510464
GRCh38: 10:100750707-100750707
29 PAX2 NM_000278.5(PAX2):c.841_845del (p.Lys281fs) MICROSAT Likely Pathogenic
1687409 GRCh37: 10:102568910-102568914
GRCh38: 10:100809153-100809157
30 PAX2 NC_000010.10:g.(?_102539235)_(102569013_?)dup DUP Likely Pathogenic
1509780 GRCh37: 10:102539235-102569013
GRCh38:
31 PAX2 NM_000278.5(PAX2):c.220del (p.Glu74fs) DEL Likely Pathogenic
635482 rs1589813539 GRCh37: 10:102510458-102510458
GRCh38: 10:100750701-100750701
32 PAX2 NM_000278.5(PAX2):c.419G>T (p.Arg140Leu) SNV Likely Pathogenic
915266 rs865906227 GRCh37: 10:102539263-102539263
GRCh38: 10:100779506-100779506
33 PAX2 NM_000278.5(PAX2):c.70G>T (p.Gly24Trp) SNV Likely Pathogenic
974525 rs1845366198 GRCh37: 10:102509529-102509529
GRCh38: 10:100749772-100749772
34 PAX2 NM_000278.5(PAX2):c.148C>T (p.Arg50Trp) SNV Likely Pathogenic
829843 rs759356936 GRCh37: 10:102509607-102509607
GRCh38: 10:100749850-100749850
35 PAX2 NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro) SNV Likely Pathogenic
1077009 GRCh37: 10:102586802-102586802
GRCh38: 10:100827045-100827045
36 PAX2 NM_000278.5(PAX2):c.757G>A (p.Val253Ile) SNV Uncertain Significance
Uncertain Significance
1184398 GRCh37: 10:102566327-102566327
GRCh38: 10:100806570-100806570
37 PAX2 NM_000278.5(PAX2):c.350G>C (p.Arg117Pro) SNV Uncertain Significance
661636 rs773306707 GRCh37: 10:102510588-102510588
GRCh38: 10:100750831-100750831
38 PAX2 NM_000278.5(PAX2):c.211A>G (p.Arg71Gly) SNV Uncertain Significance
1333615 GRCh37: 10:102509670-102509670
GRCh38: 10:100749913-100749913
39 PAX2 NM_000278.5(PAX2):c.641A>G (p.Asn214Ser) SNV Uncertain Significance
424189 rs148402788 GRCh37: 10:102566211-102566211
GRCh38: 10:100806454-100806454
40 PAX2 NM_000278.5(PAX2):c.608G>C (p.Arg203Pro) SNV Uncertain Significance
1356228 GRCh37: 10:102541114-102541114
GRCh38: 10:100781357-100781357
41 PAX2 NM_000278.5(PAX2):c.337G>A (p.Glu113Lys) SNV Uncertain Significance
1358769 GRCh37: 10:102510575-102510575
GRCh38: 10:100750818-100750818
42 PAX2 NM_000278.5(PAX2):c.1021+238A>G SNV Uncertain Significance
1369751 GRCh37: 10:102584744-102584744
GRCh38: 10:100824987-100824987
43 PAX2 NM_000278.5(PAX2):c.794G>A (p.Gly265Glu) SNV Uncertain Significance
983348 rs1847901674 GRCh37: 10:102568868-102568868
GRCh38: 10:100809111-100809111
44 PAX2 NM_000278.5(PAX2):c.361G>C (p.Glu121Gln) SNV Uncertain Significance
1379439 GRCh37: 10:102510599-102510599
GRCh38: 10:100750842-100750842
45 PAX2 NM_000278.5(PAX2):c.616+4G>A SNV Uncertain Significance
1377452 GRCh37: 10:102541126-102541126
GRCh38: 10:100781369-100781369
46 PAX2 NM_000278.5(PAX2):c.775C>A (p.His259Asn) SNV Uncertain Significance
1378270 GRCh37: 10:102566345-102566345
GRCh38: 10:100806588-100806588
47 PAX2 NM_000278.5(PAX2):c.814G>A (p.Ala272Thr) SNV Uncertain Significance
1381462 GRCh37: 10:102568888-102568888
GRCh38: 10:100809131-100809131
48 PAX2 NM_000278.5(PAX2):c.506C>T (p.Thr169Met) SNV Uncertain Significance
1408870 GRCh37: 10:102541012-102541012
GRCh38: 10:100781255-100781255
49 PAX2 NM_000278.5(PAX2):c.76G>T (p.Val26Leu) SNV Uncertain Significance
1409546 GRCh37: 10:102509535-102509535
GRCh38: 10:100749778-100749778
50 PAX2 NM_000278.5(PAX2):c.8T>A (p.Met3Lys) SNV Uncertain Significance
1379778 GRCh37: 10:102506025-102506025
GRCh38: 10:100746268-100746268

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

73 (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 rs773306707
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 rs1403345811
15 PAX2 p.Leu296Pro VAR_071945
16 PAX2 p.Pro298Ser VAR_071946 rs893370744
17 PAX2 p.Thr329Ala VAR_071947

Copy number variations for Papillorenal Syndrome from CNVD:

6
# CNVD ID Chromosome 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:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.86 SLF2 SIX5 SIX2 SIX1 PAX6 PAX2
2 collagen type IV trimer GO:0005587 9.46 COL4A4 COL4A3
3 basement membrane GO:0005604 9.23 FREM2 FRAS1 COL4A4 COL4A3

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.49 SIX1 SALL1 PAX6 PAX2 HNF1B EYA1
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.43 BMP4 CHD7 EYA1 GDNF HNF1B PAX2
3 negative regulation of apoptotic process GO:0043066 10.38 SIX1 PAX2 HNF1B GDNF CRYAA BMP4
4 sensory perception of sound GO:0007605 10.3 SIX1 EYA1 COL4A3 CHD7
5 anatomical structure morphogenesis GO:0009653 10.28 EYA1 FRAS1 FREM2 SIX2
6 regulation of gene expression GO:0010468 10.24 SIX1 PAX6 GDNF CHD7 BMP4
7 embryonic digit morphogenesis GO:0042733 10.16 BMP4 FREM2 SALL1
8 lens development in camera-type eye GO:0002088 10.14 SIX5 PAX6 CRYAA
9 embryonic cranial skeleton morphogenesis GO:0048701 10.11 SIX2 SIX1 BMP4
10 epithelial cell proliferation GO:0050673 10.1 HNF1B EYA1 BMP4
11 kidney development GO:0001822 10.1 BMP4 FREM2 HNF1B SALL1 SIX1 SIX2
12 outflow tract morphogenesis GO:0003151 10.08 SIX1 EYA1 BMP4
13 pituitary gland development GO:0021983 10.08 BMP4 PAX6 SALL1
14 inner ear morphogenesis GO:0042472 10.07 CHD7 EYA1 PAX2 SIX1
15 cochlea morphogenesis GO:0090103 10.05 SIX1 PAX2 EYA1
16 regulation of neuron differentiation GO:0045664 10.04 SIX1 PAX6 EYA1
17 middle ear morphogenesis GO:0042474 10.03 SIX2 SIX1 EYA1
18 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 10.02 SIX1 PAX2 GDNF
19 metanephric collecting duct development GO:0072205 10.01 PAX2 BMP4
20 glomerular basement membrane development GO:0032836 10.01 COL4A4 COL4A3
21 aorta morphogenesis GO:0035909 10.01 SIX1 EYA1 CHD7
22 metanephric mesenchyme development GO:0072075 10 PAX2 SIX1
23 blood vessel development GO:0001568 9.99 BMP4 CHD7 PAX6
24 pronephros development GO:0048793 9.97 PAX2 HNF1B
25 embryonic skeletal system morphogenesis GO:0048704 9.97 SIX2 SIX1 EYA1 BMP4
26 anatomical structure development GO:0048856 9.97 SIX1 PAX6 PAX2 EYA1 BMP4
27 semicircular canal morphogenesis GO:0048752 9.96 EYA1 CHD7
28 positive regulation of ureteric bud formation GO:0072107 9.95 GDNF SIX1
29 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.95 GDNF PAX2
30 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.94 EYA1 SIX1
31 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.93 PAX2 HNF1B
32 branching involved in ureteric bud morphogenesis GO:0001658 9.93 SIX1 SALL1 PAX2 GDNF EYA1 BMP4
33 ureter smooth muscle cell differentiation GO:0072193 9.92 SIX1 BMP4
34 mesenchymal cell differentiation involved in kidney development GO:0072161 9.92 SIX2 BMP4
35 metanephros development GO:0001656 9.92 SIX2 ROBO2 GDNF EYA1 BMP4
36 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.91 SIX1 HNF1B
37 olfactory nerve development GO:0021553 9.91 SALL1 CHD7
38 camera-type eye development GO:0043010 9.91 PAX6 PAX2 CHD7 BMP4
39 mesodermal cell fate specification GO:0007501 9.91 SIX2 PAX2 EYA1
40 cell fate commitment GO:0045165 9.89 PAX6 EYA1 BMP4
41 positive regulation of epithelial cell differentiation GO:0030858 9.88 PAX6 BMP4
42 organ induction GO:0001759 9.88 SIX1 GDNF BMP4
43 mesenchymal cell proliferation involved in ureter development GO:0072198 9.87 SIX1 BMP4
44 telencephalon regionalization GO:0021978 9.85 PAX6 BMP4
45 otic vesicle development GO:0071599 9.85 SIX1 EYA1
46 nephric duct formation GO:0072179 9.77 PAX2 HNF1B
47 regulation of morphogenesis of a branching structure GO:0060688 9.76 GDNF BMP4
48 epithelium development GO:0060429 9.76 HNF1B CHD7 BMP4
49 ear morphogenesis GO:0042471 9.65 EYA1 CHD7
50 ureteric bud development GO:0001657 9.65 SIX1 SALL1 ROBO2 GDNF EYA1 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.53 SIX5 SIX2 SIX1 SALL1 PAX6 PAX2
2 sequence-specific DNA binding GO:0043565 9.43 SIX5 SIX2 SIX1 PAX6 HNF1B

Sources for Papillorenal Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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