MCID: ISL011
MIFTS: 32

Isolated Aniridia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Aniridia

MalaCards integrated aliases for Isolated Aniridia:

Name: Isolated Aniridia 58

Characteristics:

Orphanet epidemiological data:

58
isolated aniridia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q13.1
UMLS via Orphanet 72 C0003076
Orphanet 58 ORPHA250923

Summaries for Isolated Aniridia

MalaCards based summary : Isolated Aniridia is related to aniridia 1 and aniridia and absent patella. An important gene associated with Isolated Aniridia is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye and brain, and related phenotypes are nystagmus and visual loss

Related Diseases for Isolated Aniridia

Graphical network of the top 20 diseases related to Isolated Aniridia:



Diseases related to Isolated Aniridia

Symptoms & Phenotypes for Isolated Aniridia

Human phenotypes related to Isolated Aniridia:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
3 aplasia/hypoplasia of the macula 58 31 hallmark (90%) Very frequent (99-80%) HP:0008059
4 aniridia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000526
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
7 peters anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000659

Drugs & Therapeutics for Isolated Aniridia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 WAGR Syndrome and Other 11p Contiguous Gene Deletions: Clinical Characterization and Correlation With Genotype Completed NCT00758108

Search NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

Anatomical Context for Isolated Aniridia

MalaCards organs/tissues related to Isolated Aniridia:

40
Eye, Brain

Publications for Isolated Aniridia

Articles related to Isolated Aniridia:

(show all 42)
# Title Authors PMID Year
1
PAX6-Related Aniridia 61 6
20301534 2003
2
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. 6
24290376 2013
3
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. 6
19876904 2009
4
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 6
17595013 2007
5
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 6
17406642 2007
6
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 6
17148041 2006
7
Molecular analysis of a human PAX6 homeobox mutant. 6
16493447 2006
8
Heterozygous mutations of OTX2 cause severe ocular malformations. 6
15846561 2005
9
PAX6 and congenital eye malformations. 6
14561779 2003
10
Missense mutations in the DNA-binding region and termination codon in PAX6. 6
12552561 2003
11
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 6
11826019 2002
12
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. 6
11553050 2001
13
Six3, a medaka homologue of the Drosophila homeobox gene sine oculis is expressed in the anterior embryonic shield and the developing eye. 6
9651515 1998
14
PAX6 mutations reviewed. 6
9482572 1998
15
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. 6
8689689 1996
16
A new PAX6 mutation in familial aniridia. 6
7666404 1995
17
Three novel aniridia mutations in the human PAX6 gene. 6
7550230 1995
18
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. 6
7951315 1994
19
Mutations in the PAX6 gene in patients with hereditary aniridia. 6
8111379 1993
20
The human PAX6 gene is mutated in two patients with aniridia. 6
1302030 1992
21
Heterogeneity in dominant anterior segment malformations. 6
1954207 1991
22
Anterior segment dysgenesis keratolenticular adhesion and aniridia. 6
6988567 1980
23
Congenital central corneal leukoma (Peters' anomaly). 6
1251879 1976
24
A novel PAX6 mutation causes congenital aniridia with or without retinal detachment. 61
30985247 2019
25
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism. 61
30334364 2018
26
Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency. 61
29343077 2018
27
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants. 61
28488383 2017
28
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. 61
28231309 2017
29
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. 61
25696017 2015
30
Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye. 61
23571254 2014
31
[Clinical Findings in Family with Aniridia due the PAX6 Mutation]. 61
25354820 2014
32
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome. 61
23517654 2013
33
Guidelines for genetic study of aniridia. 61
23597644 2013
34
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. 61
22509105 2012
35
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. 61
19793656 2009
36
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. 61
18241071 2008
37
A rare case of aniridia and balanced translocation (5;11) (p15.3;q22) arising in the same subject: a challenge for genetic counseling. 61
16719277 2006
38
Corneal laceration with total but isolated aniridia caused by a pecking injury. 61
11020631 2000
39
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. 61
9132491 1997
40
Aniridia: recent achievements in paediatric practice. 61
8529675 1995
41
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. 61
2817003 1989
42
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. 61
3754537 1986

Variations for Isolated Aniridia

ClinVar genetic disease variations for Isolated Aniridia:

6 (show top 50) (show all 98) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 28 genes: ANK2 NC_000004.10:g.111994000_115504000del3510001deletion Pathogenic 267201 4:111774551-115284551 4:110853395-114363395
2 FOXC1 , GMDS NC_000006.10:g.1543591_1675085del131495deletion Pathogenic 267200 6:1598592-1730086
3 ELP4 , LOC105980003 , LOC106007485 , LOC106007493 , LOC106014249 , PAX6 NC_000011.8:g.31698271_31794414del96144deletion Pathogenic 267194 11:31741695-31837838 11:31720147-31816290
4 DCDC1 , DNAJC24 , ELP4 , IMMP1L , LOC105980005 , PAX6DRR , PAX6_HS8 NC_000011.8:g.30874642_31654833del780192deletion Pathogenic 267195 11:30918066-31698257 11:30896521-31676711
5 DCDC1 , DNAJC24 , ELP4 , IMMP1L , LOC105980005 , LOC105980073 , PAX6DRR , PAX6_HS8 NC_000011.8:g.30967000_31704000del737001deletion Pathogenic 267196 11:31010424-31747424 11:30988877-31725876
6 DCDC1 , DNAJC24 , ELP4 , IMMP1L , LOC105980005 , PAX6DRR , PAX6_HS8 NC_000011.8:g.31108579_31649842del541264deletion Pathogenic 267197 11:31152003-31693266 11:31130456-31671718
7 DCDC1 , DNAJC24 , ELP4 , IMMP1L , PAX6 NC_000011.8:g.31199000_31849000del650001deletion Pathogenic 267191 11:31242424-31892424
8 DCDC1 , DNAJC24 , ELP4 , IMMP1L , PAX6 NC_000011.8:g.31199000_31914000del715001deletion Pathogenic 267192 11:31242424-31957424
9 DCDC1 , DNAJC24 , ELP4 , IMMP1L , LOC105980003 , LOC105980005 , LOC105980073 , PAX6DRR , PAX6_HS8 NC_000011.8:g.31234395_31751815del517421deletion Pathogenic 267198 11:31277819-31795239 11:31256273-31773692
10 DNAJC24 , ELP4 , IMMP1L , LOC105980005 , LOC105980073 , PAX6DRR , PAX6_HS8 NC_000011.8:g.31379000_31708000del329001deletion Pathogenic 267199 11:31422424-31751424 11:31400877-31729876
11 PAX6 NC_000011.8:g.31779000_31933000del154001deletion Pathogenic 267193 11:31822424-31976424
12 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
13 PAX6 NM_019040.5(ELP4):c.*2334T>GSNV Uncertain significance 304299 rs886048183 11:31807406-31807406 11:31785858-31785858
14 PAX6 NM_019040.5(ELP4):c.*2407C>ASNV Uncertain significance 304300 rs886048184 11:31807479-31807479 11:31785931-31785931
15 PAX6 NM_019040.5(ELP4):c.*3703_*3705deldeletion Uncertain significance 304320 rs886048189 11:31808775-31808777 11:31787227-31787229
16 PAX6 NM_019040.5(ELP4):c.*4889G>ASNV Uncertain significance 304337 rs886048196 11:31809961-31809961 11:31788413-31788413
17 PAX6 NM_019040.5(ELP4):c.*5016T>GSNV Uncertain significance 304339 rs776894983 11:31810088-31810088 11:31788540-31788540
18 PAX6 NM_000280.4(PAX6):c.142-8C>TSNV Uncertain significance 304360 rs886048203 11:31823332-31823332 11:31801784-31801784
19 PAX6 NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTGindel Uncertain significance 304290 rs886048180 11:31806561-31806563 11:31785013-31785015
20 PAX6 NM_019040.5(ELP4):c.*2049A>GSNV Uncertain significance 304296 rs886048181 11:31807121-31807121 11:31785573-31785573
21 PAX6 NM_019040.5(ELP4):c.*2502G>ASNV Uncertain significance 304302 rs886048185 11:31807574-31807574 11:31786026-31786026
22 PAX6 NM_019040.5(ELP4):c.*4017A>GSNV Uncertain significance 304329 rs886048193 11:31809089-31809089 11:31787541-31787541
23 PAX6 NM_019040.5(ELP4):c.*4023C>ASNV Uncertain significance 304330 rs886048194 11:31809095-31809095 11:31787547-31787547
24 PAX6 NM_019040.5(ELP4):c.*4025C>GSNV Uncertain significance 304331 rs886048195 11:31809097-31809097 11:31787549-31787549
25 PAX6 NM_019040.5(ELP4):c.*3859G>ASNV Uncertain significance 304323 rs886048190 11:31808931-31808931 11:31787383-31787383
26 PAX6 NM_019040.5(ELP4):c.*5357A>GSNV Uncertain significance 304343 rs886048197 11:31810429-31810429 11:31788881-31788881
27 PAX6 NM_019040.5(ELP4):c.*5471T>CSNV Uncertain significance 304344 rs886048198 11:31810543-31810543 11:31788995-31788995
28 PAX6 NM_019040.5(ELP4):c.*6054A>TSNV Uncertain significance 304350 rs774392481 11:31811126-31811126 11:31789578-31789578
29 PAX6 NM_019040.5(ELP4):c.*6075A>GSNV Uncertain significance 304351 rs766518284 11:31811147-31811147 11:31789599-31789599
30 PAX6 NM_019040.5(ELP4):c.*6203C>TSNV Uncertain significance 304353 rs886048199 11:31811275-31811275 11:31789727-31789727
31 PAX6 NM_019040.5(ELP4):c.*6227dupduplication Uncertain significance 304354 rs886048200 11:31811298-31811299 11:31789750-31789751
32 PAX6 NM_000280.4(PAX6):c.-368G>ASNV Uncertain significance 304366 rs886048206 11:31832714-31832714 11:31811166-31811166
33 PAX6 NM_000280.4(PAX6):c.-501deldeletion Uncertain significance 304368 rs886048208 11:31832847-31832847 11:31811299-31811299
34 PAX6 NM_019040.5(ELP4):c.*1877A>GSNV Uncertain significance 304294 rs745626044 11:31806949-31806949 11:31785401-31785401
35 PAX6 NM_019040.5(ELP4):c.*2282G>ASNV Uncertain significance 304298 rs886048182 11:31807354-31807354 11:31785806-31785806
36 PAX6 NM_000280.4(PAX6):c.-59G>TSNV Uncertain significance 304361 rs886048204 11:31828404-31828404 11:31806856-31806856
37 PAX6 NM_000280.4(PAX6):c.-147_-146dupduplication Uncertain significance 304363 rs886048205 11:31832392-31832393 11:31810844-31810845
38 PAX6 NM_019040.5(ELP4):c.*3528A>GSNV Uncertain significance 304319 rs143185259 11:31808600-31808600 11:31787052-31787052
39 PAX6 NM_019040.5(ELP4):c.*3920C>TSNV Uncertain significance 304325 rs886048191 11:31808992-31808992 11:31787444-31787444
40 PAX6 NM_019040.5(ELP4):c.*5519C>TSNV Uncertain significance 304345 rs530259403 11:31810591-31810591 11:31789043-31789043
41 PAX6 NM_019040.5(ELP4):c.*6184A>GSNV Uncertain significance 304352 rs753595935 11:31811256-31811256 11:31789708-31789708
42 PAX6 NM_000280.4(PAX6):c.-507T>CSNV Uncertain significance 304369 rs886048209 11:31832853-31832853 11:31811305-31811305
43 PAX6 NM_019040.5(ELP4):c.*2710_*2711CA[2]short repeat Uncertain significance 304306 rs886048186 11:31807781-31807782 11:31786233-31786234
44 PAX6 NM_019040.5(ELP4):c.*3504T>CSNV Uncertain significance 304315 rs886048187 11:31808576-31808576 11:31787028-31787028
45 PAX6 NM_019040.5(ELP4):c.*3523deldeletion Uncertain significance 304318 rs886048188 11:31808595-31808595 11:31787047-31787047
46 PAX6 NM_019040.5(ELP4):c.*3978T>CSNV Uncertain significance 304326 rs886048192 11:31809050-31809050 11:31787502-31787502
47 PAX6 NM_019040.5(ELP4):c.*6053T>ASNV Uncertain significance 304348 rs774473337 11:31811125-31811125 11:31789577-31789577
48 PAX6 NM_019040.5(ELP4):c.*6067deldeletion Uncertain significance 304349 rs200391530 11:31811126-31811126 11:31789578-31789578
49 PAX6 NM_019040.5(ELP4):c.*6303C>GSNV Uncertain significance 304355 rs886048201 11:31811375-31811375 11:31789827-31789827
50 PAX6 NM_000280.4(PAX6):c.547G>C (p.Gly183Arg)SNV Uncertain significance 304358 rs886048202 11:31816313-31816313 11:31794765-31794765

Expression for Isolated Aniridia

Search GEO for disease gene expression data for Isolated Aniridia.

Pathways for Isolated Aniridia

Pathways related to Isolated Aniridia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 PAX6 FOXC1
2 10.25 PAX6 FOXC1

GO Terms for Isolated Aniridia

Biological processes related to Isolated Aniridia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.5 TRIM44 PAX6 FOXC1
2 brain development GO:0007420 9.43 PAX6 FOXC1
3 regulation of gene expression GO:0010468 9.4 TRIM44 PAX6
4 camera-type eye development GO:0043010 9.37 PAX6 FOXC1
5 blood vessel development GO:0001568 9.26 PAX6 FOXC1
6 eye development GO:0001654 9.16 PAX6 FOXC1
7 positive regulation of core promoter binding GO:1904798 8.96 PAX6 FOXC1
8 lacrimal gland development GO:0032808 8.62 PAX6 FOXC1

Molecular functions related to Isolated Aniridia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 8.96 PAX6 FOXC1
2 transcription regulatory region DNA binding GO:0044212 8.62 PAX6 FOXC1

Sources for Isolated Aniridia

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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