MCID: PX6002
MIFTS: 22

Pax6-Related Aniridia

Aliases & Classifications for Pax6-Related Aniridia

MalaCards integrated aliases for Pax6-Related Aniridia:

Name: Pax6-Related Aniridia 24

Characteristics:

GeneReviews:

24
Penetrance Isolated aniridia has almost complete penetrance....

Summaries for Pax6-Related Aniridia

MalaCards based summary : Pax6-Related Aniridia is related to aniridia 1 and wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. An important gene associated with Pax6-Related Aniridia is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways is Cardiac Progenitor Differentiation. Affiliated tissues include brain, eye and testes, and related phenotypes are embryo and digestive/alimentary

GeneReviews: NBK1360

Related Diseases for Pax6-Related Aniridia

Diseases related to Pax6-Related Aniridia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 aniridia 1 29.5 WT1 PAX6 IGF2
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 29.3 WT1 PAX6 IGF2
3 wilms tumor 1 26.8 WT1 PAX6 IGF2 H19 GPC4 GPC3
4 keratopathy 10.4
5 pathologic nystagmus 10.4
6 simpson-golabi-behmel syndrome 10.3 GPC4 GPC3
7 coloboma of macula 10.2
8 attention deficit-hyperactivity disorder 10.2
9 obsessive-compulsive disorder 10.2
10 strabismus 10.2
11 cryptorchidism, unilateral or bilateral 10.2
12 gonadoblastoma 10.2
13 wilms tumor 5 10.2
14 yemenite deaf-blind hypopigmentation syndrome 10.2
15 alacrima, achalasia, and mental retardation syndrome 10.2
16 autism spectrum disorder 10.2
17 suppression amblyopia 10.2
18 amblyopia 10.2
19 microphthalmia 10.2
20 hypospadias 10.2
21 lens subluxation 10.2
22 cataract 10.2
23 mechanical strabismus 10.2
24 refractive error 10.2
25 isolated aniridia 10.2
26 simpson-golabi-behmel syndrome, type 1 10.2 GPC4 GPC3
27 breast giant fibroadenoma 10.2 WT1 BRCA2
28 peritoneum cancer 10.2 WT1 BRCA2
29 dysgerminoma of ovary 10.2 WT1 BRCA2
30 ovary epithelial cancer 10.1 WT1 BRCA2
31 embryoma 10.1 IGF2 GPC3
32 malignant ovarian surface epithelial-stromal neoplasm 10.1 WT1 BRCA2
33 ovarian cancer 1 10.1 WT1 BRCA2
34 proteus syndrome 10.0 IGF2 GPC3
35 silver-russell syndrome 10.0 IGF2 H19
36 silver-russell syndrome due to 11p15 microduplication 10.0 IGF2 H19
37 silver-russell syndrome due to an imprinting defect of 11p15 10.0 IGF2 H19
38 beckwith-wiedemann syndrome due to imprinting defect of 11p15 10.0 IGF2 H19
39 umbilical hernia 10.0 IGF2 H19
40 congenital mesoblastic nephroma 9.9 WT1 IGF2
41 fetal macrosomia 9.9 IGF2 H19
42 rhabdoid tumor predisposition syndrome 1 9.9 WT1 IGF2
43 muscle cancer 9.9 WT1 IGF2
44 wilson-turner x-linked mental retardation syndrome 9.9 WT1 IGF2
45 clear cell sarcoma 9.8 WT1 IGF2
46 choriocarcinoma 9.8 H19 GPC3
47 endocrine gland cancer 9.8 IGF2 GPC3 BRCA2
48 leiomyosarcoma 9.7 WT1 IGF2
49 germ cell cancer 9.7 IGF2 H19
50 hepatoblastoma 9.6 IGF2 H19 GPC3

Graphical network of the top 20 diseases related to Pax6-Related Aniridia:



Diseases related to Pax6-Related Aniridia

Symptoms & Phenotypes for Pax6-Related Aniridia

MGI Mouse Phenotypes related to Pax6-Related Aniridia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.65 BRCA2 GPC3 IGF2 PAX6 WT1
2 digestive/alimentary MP:0005381 9.62 BRCA2 GPC3 IGF2 PAX6
3 renal/urinary system MP:0005367 9.46 GPC3 IGF2 PAX6 WT1
4 reproductive system MP:0005389 9.35 BRCA2 GPC3 IGF2 PAX6 WT1
5 respiratory system MP:0005388 8.92 GPC3 IGF2 PAX6 WT1

Drugs & Therapeutics for Pax6-Related Aniridia

Search Clinical Trials , NIH Clinical Center for Pax6-Related Aniridia

Genetic Tests for Pax6-Related Aniridia

Anatomical Context for Pax6-Related Aniridia

MalaCards organs/tissues related to Pax6-Related Aniridia:

41
Brain, Eye, Testes, Endothelial, Pineal

Publications for Pax6-Related Aniridia

Articles related to Pax6-Related Aniridia:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation. 4
29217025 2017
2
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 4
28321846 2017
3
Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia. 4
28624217 2017
4
A CGH array procedure to detect PAX6 gene structural defects. 4
27919838 2017
5
Structural brain abnormalities in 12 persons with aniridia. 4
29034075 2017
6
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. 4
28231309 2017
7
Clinical utility gene card for: Aniridia. 4
27381094 2016
8
Assessment of PAX6 alleles in 66 families with aniridia. 4
26661695 2016
9
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. 4
27108797 2016
10
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. 4
27124303 2016
11
Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4. 4
24357251 2014
12
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. 4
23942204 2014
13
Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. 4
24355924 2014
14
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. 4
24290376 2013
15
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. 4
23517654 2013
16
Stem cell-based therapy for corneal epithelial reconstruction: present and future. 4
23419294 2013
17
The culture of limbal stromal cells and corneal endothelial cells. 4
23690009 2013
18
Anterior segment optical coherence tomography in congenital corneal opacities. 4
22959105 2012
19
PAX6 mutations identified in 4 of 35 families with microcornea. 4
22893676 2012
20
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 4
22382802 2012
21
Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. 4
22361317 2012
22
Bilateral Wilms' tumor: Mansoura multi-centers 15 years experience. 4
22235062 2012
23
PAX6 3' deletion in a family with aniridia. 4
21985185 2012
24
Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study. 4
22167549 2012
25
Concurrent presentation of aniridia and megalocornea without glaucoma. 4
21665500 2011
26
Clinical utility gene card for: WAGR syndrome. 4
21224893 2011
27
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia. 4
21633710 2011
28
Corneal involvement in congenital aniridia. 4
20567200 2010
29
Complications and visual prognosis in children with aniridia. 4
20635810 2010
30
Midterm results of cultivated autologous and allogeneic limbal epithelial transplantation in limbal stem cell deficiency. 4
20502027 2010
31
PAX6 aniridia and interhemispheric brain anomalies. 4
19862335 2009
32
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. 4
19279310 2009
33
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations. 4
19218613 2009
34
Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations. 4
20054790 2009
35
Aniridia: current pathology and management. 4
18937825 2008
36
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. 4
18484311 2008
37
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. 4
18483559 2008
38
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. 4
18241071 2008
39
Congenital corneal opacities - a surgical approach to nomenclature and classification. 4
17914436 2007
40
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. 4
17485622 2007
41
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. 4
17417613 2007
42
Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). 4
17106362 2006
43
Congenital iris ectropion as an indicator of variant aniridia. 4
16622108 2006
44
A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia. 4
16376654 2005
45
End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System. 4
16217371 2005
46
WAGR syndrome: a clinical review of 54 cases. 4
16199712 2005
47
Artificial iris-lens diaphragm in reconstructive surgery for aniridia and aphakia. 4
16246779 2005
48
Central corneal thickness in patients with congenital aniridia. 4
16163015 2005
49
Aniridia and optic nerve hypoplasia. 4
15359227 2005
50
Implantation of iris devices in congenital and traumatic aniridias: surgery solutions and complications. 4
16001376 2005

Variations for Pax6-Related Aniridia

Expression for Pax6-Related Aniridia

Search GEO for disease gene expression data for Pax6-Related Aniridia.

Pathways for Pax6-Related Aniridia

Pathways related to Pax6-Related Aniridia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.35 PAX6 IGF2

GO Terms for Pax6-Related Aniridia

Cellular components related to Pax6-Related Aniridia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 GPC4 GPC3
2 anchored component of plasma membrane GO:0046658 8.62 GPC4 GPC3

Biological processes related to Pax6-Related Aniridia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.63 WT1 PAX6 GPC3
2 camera-type eye development GO:0043010 9.43 WT1 PAX6
3 negative regulation of epithelial cell proliferation GO:0050680 9.4 PAX6 GPC3
4 retinoid metabolic process GO:0001523 9.37 GPC4 GPC3
5 branching involved in ureteric bud morphogenesis GO:0001658 9.32 WT1 GPC3
6 regulation of signal transduction GO:0009966 9.26 GPC4 GPC3
7 glycosaminoglycan biosynthetic process GO:0006024 9.16 GPC4 GPC3
8 glycosaminoglycan catabolic process GO:0006027 8.96 GPC4 GPC3
9 animal organ morphogenesis GO:0009887 8.8 PAX6 IGF2 GPC3

Sources for Pax6-Related Aniridia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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