PAPRS
MCID: PPL048
MIFTS: 58

Papillorenal Syndrome (PAPRS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Papillorenal Syndrome

MalaCards integrated aliases for Papillorenal Syndrome:

Name: Papillorenal Syndrome 56 12 52 25 73 13 39 71
Renal Coloboma Syndrome 12 52 25 58 36 29 6 15
Coloboma of Optic Nerve with Renal Disease 56 12 52 25 58 73
Renal-Coloboma Syndrome 56 25 73 54
Congenital Anomalies of the Kidney and Urinary Tract with or Without Ocular Abnormalities 56 12 73
Optic Coloboma, Vesicoureteral Reflux, and Renal Anomalies 56 52 25
Renal-Coloboma Syndrome with Macular Abnormalities 56 12 73
Cakut with or Without Ocular Abnormalities 56 12 73
Optic Nerve Coloboma with Renal Disease 56 52 73
Paprs 56 73
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 73
Optic Nerve Coloboma Renal Syndrome 25
Coloboma-Ureteral-Renal Syndrome 25
Papillo-Renal Syndrome 58
Oncr 25
Rcs 25

Characteristics:

Orphanet epidemiological data:

58
renal coloboma syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
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:

31
papillorenal syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

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


Summaries for Papillorenal Syndrome

OMIM : 56 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 oligomeganephronia and scleral staphyloma. An important gene associated with Papillorenal Syndrome is PAX2 (Paired Box 2), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Neural Stem Cells and Lineage-specific Markers. The drugs Pembrolizumab and Immunoglobulins 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

Disease Ontology : 12 A syndrome 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. 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.

NIH Rare Diseases : 52 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.

KEGG : 36 Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition comprising optic nerve dysplasia and oligomeganephronic renal hypodysplasia. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with clinical findings suggestive of RCS.

UniProtKB/Swiss-Prot : 73 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 : 74 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 243)
# Related Disease Score Top Affiliating Genes
1 oligomeganephronia 32.9 PAX2 HNF1B EYA1
2 scleral staphyloma 30.6 PAX2 CRYAA
3 renal dysplasia 30.0 SALL1 PAX2 HNF1B GDNF
4 cataract 29.6 SIX5 PAX6 PAX2 EYA1 CRYAA
5 myopia 29.2 SIX1 PAX6 CRYAA CHD7
6 coloboma of macula 29.0 SALL1 PAX6 PAX2 FREM2 FRAS1 EYA1
7 renal hypoplasia 28.8 SIX2 SIX1 SALL1 ROBO2 PAX2 HNF1B
8 microphthalmia 28.7 SALL1 PAX6 PAX2 FRAS1 EYA1 CRYAA
9 cakut 28.4 UPK3A SIX5 SIX2 SIX1 SALL1 ROBO2
10 vesicoureteral reflux 1 26.3 UPK3A SIX5 SIX2 SIX1 SALL1 ROBO2
11 pax2-related disorder 11.8
12 congenital anomalies of kidney and urinary tract 1 11.3
13 cavitary optic disc anomalies 11.3
14 retinal degeneration 10.8
15 fundus dystrophy 10.6
16 inherited retinal disorder 10.6
17 retinitis pigmentosa 10.6
18 bilateral renal aplasia 10.5 PAX2 EYA1
19 yemenite deaf-blind hypopigmentation syndrome 10.4
20 retinal disease 10.3
21 deafness, autosomal dominant 10 10.3 SIX1 EYA1
22 axenfeld-rieger syndrome, type 3 10.3 PAX6 EYA1 CRYAA
23 mayer-rokitansky-kuster-hauser syndrome 10.3 PAX2 HNF1B
24 syndromic microphthalmia 10.3 PAX6 EYA1 CRYAA
25 end stage renal disease 10.3
26 nephrogenic adenoma of urinary bladder 10.3 PAX8 PAX2
27 nephrogenic adenoma 10.3 PAX8 PAX2
28 rete testis adenoma 10.3 PAX8 PAX2
29 wolffian duct adenoma 10.2 PAX8 PAX2
30 bladder benign neoplasm 10.2 PAX8 PAX2
31 keratitis, hereditary 10.2 PAX6 PAX2 CRYAA
32 helix syndrome 10.2
33 covid-19 10.2
34 severe acute respiratory syndrome 10.2
35 branchiootorenal spectrum disorder 10.2 SIX5 SIX1 EYA1
36 nephrogenic adenoma of the urethra 10.2 PAX8 PAX2
37 branchiootorenal syndrome 2 10.2 SIX5 SIX1 EYA1
38 ureterocele 10.2 PAX8 PAX2
39 bladder cancer 10.2
40 rectum cancer 10.2
41 retinal vascular disease 10.2
42 branchiootorenal syndrome 1 10.2 SIX5 SIX1 EYA1
43 renal adenoma 10.2 PAX8 PAX2
44 endosalpingiosis 10.2 PAX8 PAX2
45 nasal cavity olfactory neuroblastoma 10.2 PAX8 PAX2
46 axenfeld-rieger syndrome, type 1 10.2 PAX6 CRYAA
47 epididymis adenocarcinoma 10.2 PAX8 PAX2
48 axenfeld-rieger syndrome 10.2 PAX6 PAX2 EYA1 CRYAA
49 ureteral disease 10.2 UPK3A ROBO2 PAX2
50 aniridia 1 10.2 PAX6 PAX2 EYA1 CRYAA

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 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000083
2 optic nerve dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001093
3 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
4 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
5 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
6 renal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000089
7 multicystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000003
8 renal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000110
9 stage 5 chronic kidney disease 31 frequent (33%) HP:0003774
10 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
11 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
12 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
13 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
14 optic nerve coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000588
15 retinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000480
16 cataract 31 occasional (7.5%) HP:0000518
17 edema 31 occasional (7.5%) HP:0000969
18 horseshoe kidney 31 occasional (7.5%) HP:0000085
19 lens luxation 31 occasional (7.5%) HP:0012019
20 retinal detachment 31 occasional (7.5%) HP:0000541
21 nephrolithiasis 31 occasional (7.5%) HP:0000787
22 macular degeneration 31 occasional (7.5%) HP:0000608
23 renal malrotation 31 occasional (7.5%) HP:0004712
24 macular hyperpigmentation 31 occasional (7.5%) HP:0011509
25 intellectual disability 31 HP:0001249
26 sensorineural hearing impairment 31 HP:0000407
27 proteinuria 31 HP:0000093
28 joint laxity 31 HP:0001388
29 microphthalmia 31 HP:0000568
30 hyperextensible skin 31 HP:0000974
31 soft skin 31 HP:0000977
32 arnold-chiari type i malformation 31 HP:0007099
33 gliosis 31 HP:0002171
34 chorioretinal atrophy 31 HP:0000533
35 morning glory anomaly 31 HP:0025514
36 seizure 31 HP:0001250
37 orbital cyst 31 HP:0001144

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Papillorenal Syndrome:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 CHD7 EYA1 FRAS1 FREM2 GDNF PAX2
2 cellular MP:0005384 10.33 CHD7 EYA1 FRAS1 GDNF HNF1B PAX2
3 growth/size/body region MP:0005378 10.22 CHD7 EYA1 FRAS1 FREM2 GDNF HNF1B
4 mortality/aging MP:0010768 10.22 CHD7 EYA1 FRAS1 FREM2 GDNF HNF1B
5 embryo MP:0005380 10.16 CHD7 EYA1 FREM2 HNF1B PAX2 PAX6
6 endocrine/exocrine gland MP:0005379 10.15 CHD7 EYA1 GDNF HNF1B PAX2 PAX6
7 digestive/alimentary MP:0005381 10.13 CHD7 EYA1 FRAS1 GDNF PAX6 ROBO2
8 craniofacial MP:0005382 10.08 CHD7 EYA1 FRAS1 FREM2 PAX6 PAX8
9 renal/urinary system MP:0005367 10.07 EYA1 FRAS1 FREM2 GDNF HNF1B PAX2
10 hearing/vestibular/ear MP:0005377 10.06 CHD7 EYA1 FREM2 PAX2 PAX6 PAX8
11 nervous system MP:0003631 10.06 CHD7 EYA1 FREM2 GDNF PAX2 PAX6
12 muscle MP:0005369 10.02 CHD7 EYA1 FREM2 GDNF HNF1B PAX6
13 limbs/digits/tail MP:0005371 9.91 CHD7 FRAS1 FREM2 PAX8 SALL1 SIX1
14 reproductive system MP:0005389 9.81 CHD7 EYA1 FREM2 GDNF PAX2 PAX6
15 respiratory system MP:0005388 9.5 CHD7 EYA1 FRAS1 FREM2 PAX6 ROBO2
16 vision/eye MP:0005391 9.28 CHD7 EYA1 FRAS1 FREM2 PAX2 PAX6

Drugs & Therapeutics for Papillorenal Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 1 1374853-91-4
2 Immunoglobulins Phase 1
3 Antibodies Phase 1
4 Antibodies, Monoclonal Phase 1
5 Antineoplastic Agents, Immunological 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 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 29 PAX2

Anatomical Context for Papillorenal Syndrome

MalaCards organs/tissues related to Papillorenal Syndrome:

40
Kidney, Eye, Retina, Skin, Brain

Publications for Papillorenal Syndrome

Articles related to Papillorenal Syndrome:

(show top 50) (show all 106)
# Title Authors PMID Year
1
PAX2 gene mutation in a family with isolated renal hypoplasia. 54 61 6 56
11461952 2001
2
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. 6 56 61 54
11093271 2000
3
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. 61 6 56 54
10533062 1999
4
Mutation of PAX2 in two siblings with renal-coloboma syndrome. 61 54 56 6
8589702 1995
5
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. 61 6 56
22213154 2012
6
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. 6 56 61
11241473 2001
7
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. 6 56
7795640 1995
8
Optic nerve coloboma associated with renal disease. 6 56
3377002 1988
9
PAX2 mutations in fetal renal hypodysplasia. 56 54 61
20358591 2010
10
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 61 54 56
16971658 2006
11
Renal-coloboma syndrome: report of a novel PAX2 gene mutation. 61 54 56
11730657 2001
12
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. 61 54 56
10466411 1999
13
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 56 54 61
9783702 1998
14
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). 6 61 54
9760197 1998
15
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. 61 54 6
9106533 1997
16
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. 61 6 54
8943028 1996
17
Mutations in PAX2 associate with adult-onset FSGS. 61 56
24676634 2014
18
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation. 61 56
22660956 2012
19
PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies. 61 56
21108633 2011
20
Renal coloboma syndrome. 56 61
21654726 2011
21
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. 6 61
21326282 2011
22
PAX2-Related Disorder 6 61
20301624 2007
23
Papillorenal ("renal coloboma") syndrome. 61 56
12140054 2002
24
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. 61 56
11297491 2001
25
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. 56
21380624 2011
26
Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation. 56
15652857 2005
27
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. 56
8588587 1995
28
Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature. 56
2685703 1989
29
Nature of renal involvement in the acro-renal-ocular syndrome. 56
2644560 1989
30
[The morning glory syndrome]. 56
552012 1979
31
[On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)]. 56
894968 1977
32
Bilateral renal agenesis with multiple congenital ocular anomalies. 56
826161 1976
33
Morning glory syndrome: unusual congenital optic disk anomaly. 56
5418855 1970
34
WNT5A is regulated by PAX2 and may be involved in blastemal predominant Wilms tumorigenesis. 54 61
19048125 2008
35
Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation. 61 54
18609495 2008
36
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. 54 61
18485342 2008
37
Vesico-ureteric reflux and urinary tract development in the Pax2 1Neu+/- mouse. 54 61
17881463 2007
38
A common variant of the PAX2 gene is associated with reduced newborn kidney size. 54 61
17513325 2007
39
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. 54 61
17269592 2007
40
Early diagnosis of the papillorenal syndrome by optic disc morphology. 61 54
16148630 2005
41
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. 61 54
15808183 2005
42
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. 61 54
14566649 2003
43
Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. 61 54
14569086 2003
44
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 61 54
12721955 2003
45
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 54 61
12503095 2003
46
PAX2 mutations in oligomeganephronia. 61 54
11168927 2001
47
Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1. 61 54
10739767 2000
48
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. 61 54
10587573 2000
49
Identification of two single nucleotide polymorphisms in exon 8 of PAX2. 54 61
10607481 1999
50
Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus. 54 61
9439670 1997

Variations for Papillorenal Syndrome

ClinVar genetic disease variations for Papillorenal Syndrome:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX2 NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)SNV Pathogenic 465775 rs1554856032 10:102510477-102510477 10:100750720-100750720
2 PAX2 NM_000278.5(PAX2):c.561del (p.Asn188fs)deletion Pathogenic 13795 rs77777862 10:102541067-102541067 10:100781310-100781310
3 PAX2 NM_000278.5(PAX2):c.131_152del (p.Leu44fs)deletion Pathogenic 13797 rs76675173 10:102509589-102509610 10:100749832-100749853
4 PAX2 PAX2, 6-BP DELdeletion Pathogenic 13798
5 PAX2 NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)SNV Pathogenic 13799 rs79555199 10:102510464-102510464 10:100750707-100750707
6 PAX2 NM_000278.5(PAX2):c.76del (p.Val26fs)deletion Pathogenic 13801 rs75462234 10:102509529-102509529 10:100749772-100749772
7 PAX2 NM_000278.5(PAX2):c.75_76dup (p.Val26fs)duplication Pathogenic 13802 rs75462234 10:102509528-102509529 10:100749771-100749772
8 PAX2 NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)SNV Pathogenic 13803 rs78122364 10:102584439-102584439 10:100824682-100824682
9 PAX2 NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)SNV Pathogenic 156296 rs75399846 10:102566276-102566276 10:100806519-100806519
10 PAX2 NM_000278.5(PAX2):c.76dup (p.Val26fs)duplication Pathogenic 156297 rs75462234 10:102509528-102509529 10:100749771-100749772
11 PAX2 NM_000278.5(PAX2):c.419G>T (p.Arg140Leu)SNV Likely pathogenic 915266 10:102539263-102539263 10:100779506-100779506
12 PAX2 NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr)duplication Likely pathogenic 13800 rs387906530 10:102510456-102510457 10:100750699-100750700
13 PAX2 NM_000278.5(PAX2):c.220del (p.Glu74fs)deletion Likely pathogenic 635482 10:102510458-102510458 10:100750701-100750701
14 PAX2 NM_000278.5(PAX2):c.360C>T (p.Ala120=)SNV Conflicting interpretations of pathogenicity 94386 rs41291450 10:102510598-102510598 10:100750841-100750841
15 PAX2 NM_000278.5(PAX2):c.350G>C (p.Arg117Pro)SNV Uncertain significance 661636 10:102510588-102510588 10:100750831-100750831
16 PAX2 NM_000278.5(PAX2):c.460G>A (p.Ala154Thr)SNV Uncertain significance 657141 10:102539304-102539304 10:100779547-100779547
17 PAX2 NM_000278.5(PAX2):c.740G>A (p.Arg247His)SNV Uncertain significance 534187 rs747639879 10:102566310-102566310 10:100806553-100806553
18 PAX2 NM_000278.5(PAX2):c.70G>C (p.Gly24Arg)SNV Uncertain significance 836075 10:102509529-102509529 10:100749772-100749772
19 PAX2 NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)SNV Uncertain significance 862725 10:102541069-102541069 10:100781312-100781312
20 PAX2 NM_000278.5(PAX2):c.616+6G>CSNV Uncertain significance 860696 10:102541128-102541128 10:100781371-100781371
21 PAX2 NM_000278.5(PAX2):c.478G>A (p.Ala160Thr)SNV Uncertain significance 569063 rs201383632 10:102539322-102539322 10:100779565-100779565
22 PAX2 NM_000278.5(PAX2):c.1021+233A>TSNV Uncertain significance 157678 rs606231415 10:102584739-102584739 10:100824982-100824982
23 PAX2 NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn)SNV Uncertain significance 157679 rs138490772 10:102586835-102586835 10:100827078-100827078
24 PAX2 NM_000278.5(PAX2):c.932C>T (p.Ala311Val)SNV Likely benign 156301 rs78738655 10:102584417-102584417 10:100824660-100824660
25 PAX2 NM_000278.5(PAX2):c.867C>G (p.Asn289Lys)SNV Likely benign 534188 rs199724772 10:102568941-102568941 10:100809184-100809184
26 PAX2 NM_000278.5(PAX2):c.213-8C>TSNV Benign 707348 10:102510443-102510443 10:100750686-100750686
27 PAX2 NM_000278.5(PAX2):c.43+10G>CSNV Benign 94387 rs4472867 10:102506070-102506070 10:100746313-100746313
28 PAX2 NM_000278.5(PAX2):c.909A>C (p.Pro303=)SNV Benign 156300 rs1800898 10:102568983-102568983 10:100809226-100809226

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
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 rs140334581
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:

7
# 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

Pathways related to Papillorenal Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.46 PAX6 PAX2 HNF1B
2 10.7 PAX6 PAX2 GDNF
3 10.16 PAX8 PAX2

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 transcription factor complex GO:0005667 9.26 SIX5 SIX2 SIX1 HNF1B
2 nuclear chromatin GO:0000790 9.17 SIX5 SIX2 SIX1 PAX8 PAX6 PAX2

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.27 SIX5 SIX2 SIX1 SALL1 PAX8 PAX6
2 multicellular organism development GO:0007275 10.19 SIX5 SIX2 SIX1 ROBO2 PAX8 PAX6
3 positive regulation of transcription, DNA-templated GO:0045893 10.11 SIX1 SALL1 PAX8 PAX6 PAX2 HNF1B
4 negative regulation of transcription, DNA-templated GO:0045892 10.1 SIX5 SIX2 SIX1 SALL1 PAX2
5 negative regulation of apoptotic process GO:0043066 10.1 SIX1 PAX2 HNF1B GDNF CRYAA
6 positive regulation of transcription by RNA polymerase II GO:0045944 10 SIX5 SIX2 SIX1 SALL1 PAX8 PAX6
7 central nervous system development GO:0007417 9.95 ROBO2 PAX8 PAX6 CHD7
8 anatomical structure morphogenesis GO:0009653 9.89 SIX2 PAX8 EYA1
9 camera-type eye development GO:0043010 9.86 PAX6 PAX2 CHD7
10 embryonic skeletal system morphogenesis GO:0048704 9.85 SIX2 SIX1 EYA1
11 anatomical structure development GO:0048856 9.85 SIX5 SIX2 SIX1 EYA1
12 kidney development GO:0001822 9.85 UPK3A SIX2 SIX1 SALL1 PAX8 HNF1B
13 inner ear morphogenesis GO:0042472 9.83 SIX1 PAX8 PAX2 EYA1 CHD7
14 cochlea morphogenesis GO:0090103 9.76 SIX1 PAX2 EYA1
15 middle ear morphogenesis GO:0042474 9.75 SIX2 SIX1 EYA1
16 aorta morphogenesis GO:0035909 9.73 SIX1 EYA1 CHD7
17 ureteric bud development GO:0001657 9.72 SIX1 SALL1 ROBO2 GDNF EYA1
18 pharyngeal system development GO:0060037 9.71 SIX1 EYA1
19 embryonic digestive tract morphogenesis GO:0048557 9.71 SIX2 HNF1B
20 cell fate determination GO:0001709 9.71 PAX6 PAX2
21 neuron fate specification GO:0048665 9.71 SIX1 EYA1
22 urogenital system development GO:0001655 9.71 PAX8 PAX2
23 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.71 SIX1 PAX8 PAX2 GDNF
24 mesonephros development GO:0001823 9.7 PAX8 PAX2
25 organ induction GO:0001759 9.7 SIX1 GDNF
26 otic vesicle development GO:0071599 9.7 SIX1 PAX8 EYA1
27 epithelium development GO:0060429 9.69 HNF1B CHD7
28 outer ear morphogenesis GO:0042473 9.69 SALL1 EYA1
29 metanephric mesenchyme development GO:0072075 9.69 SIX1 PAX2
30 pronephros development GO:0048793 9.69 PAX8 PAX2 HNF1B
31 mesonephric tubule development GO:0072164 9.68 PAX8 HNF1B
32 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.68 PAX8 PAX2
33 semicircular canal morphogenesis GO:0048752 9.67 EYA1 CHD7
34 ear morphogenesis GO:0042471 9.67 EYA1 CHD7
35 mesodermal cell fate specification GO:0007501 9.67 SIX2 PAX2 EYA1
36 metanephric epithelium development GO:0072207 9.66 PAX8 PAX2
37 metanephric nephron tubule formation GO:0072289 9.66 PAX8 PAX2
38 metanephric distal convoluted tubule development GO:0072221 9.65 PAX8 PAX2
39 positive regulation of ureteric bud formation GO:0072107 9.65 SIX1 GDNF
40 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.65 PAX8 PAX2 GDNF
41 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.64 SIX1 EYA1
42 nephric duct formation GO:0072179 9.64 PAX2 HNF1B
43 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.63 SIX1 HNF1B
44 kidney epithelium development GO:0072073 9.63 SALL1 PAX8
45 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.63 PAX8 PAX2 HNF1B
46 olfactory nerve development GO:0021553 9.62 SALL1 CHD7
47 positive regulation of metanephric DCT cell differentiation GO:2000594 9.62 PAX8 PAX2
48 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.61 PAX8 PAX2
49 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.61 PAX8 PAX2
50 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.6 PAX8 PAX2

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 UPK3A SLF2 SIX5 SIX1 SALL1 ROBO2
2 DNA binding GO:0003677 10.06 SIX5 SIX2 SIX1 SALL1 PAX8 PAX6
3 DNA-binding transcription factor activity GO:0003700 9.87 SIX2 SIX1 SALL1 PAX8 PAX6 PAX2
4 sequence-specific DNA binding GO:0043565 9.85 SIX5 SIX2 SIX1 PAX8 PAX6 HNF1B
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.83 SIX5 SIX2 SIX1 PAX8 PAX6
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 SIX5 SIX2 SIX1 PAX8 PAX6 PAX2
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.65 SIX5 SIX2 SIX1 PAX8 PAX2
8 transcription regulatory region DNA binding GO:0044212 9.35 SIX1 PAX8 PAX6 PAX2 HNF1B
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.17 SIX5 SIX2 SIX1 SALL1 PAX8 PAX6

Sources for Papillorenal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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